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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF KIF1B 0 genome.wustl.edu 37 1 10364070 10364070 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 10364070 10364070 C T SNP KIF1B ENST00000377083 human ensembl 74_37 +1 known missense c.2827 p.R943W 0.427 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 160 0 0 136 47 25.6831 CASZ1 0 genome.wustl.edu 37 1 10700075 10700075 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 10700075 10700075 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.4204 p.R1402C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 108 0 0 82 19 18.8119 CASZ1 0 genome.wustl.edu 37 1 10713999 10713999 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 10713999 10713999 C T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.2115 p.L705 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 67 0 0 81 7 7.95455 CASZ1 0 genome.wustl.edu 37 1 10720396 10720396 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 10720396 10720396 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.703 p.R235W 0.928 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 57 0 0 44 20 31.25 PRMT6 0 genome.wustl.edu 37 1 107599519 107599519 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 107599519 107599519 T A SNP PRMT6 ENST00000370078 human ensembl 74_37 +1 known missense c.182 p.I61N 0.997 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_mo5U34_MeTrfas-like,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT6 HGNC ENSG00000198890 46 0 0 43 5 10.4167 VAV3 0 genome.wustl.edu 37 1 108303435 108303435 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 108303435 108303435 G A SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known missense c.988 p.R330C 0.988 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 84 0 0 71 15 17.4419 AMPD2 0 genome.wustl.edu 37 1 110173650 110173650 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 110173650 110173650 G A SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.2516 p.R839H 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 25 0 0 20 8 28.5714 KCNA3 0 genome.wustl.edu 37 1 111217053 111217053 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 111217053 111217053 C T SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.379 p.E127K 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1.3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 81 0 0 63 12 16 CHIA 0 genome.wustl.edu 37 1 111857901 111857901 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 111857901 111857901 C T SNP CHIA ENST00000343320 human ensembl 74_37 +1 known silent c.324 p.A108 0.994 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC ENSG00000134216 316 0 0 261 58 18.1818 DDX20 0 genome.wustl.edu 37 1 112305362 112305362 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 112305362 112305362 T C SNP DDX20 ENST00000369702 human ensembl 74_37 +1 known missense c.1168 p.W390R 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX20 HGNC ENSG00000064703 210 0 0 218 15 6.43777 DENND2C 0 genome.wustl.edu 37 1 115129947 115129947 + RNA SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 115129947 115129947 C T SNP DENND2C ENST00000481894 human ensembl 74_37 -1 known rna NULL NULL 0.322 - - - no_errors DENND2C HGNC ENSG00000175984 180 0 0 124 47 27.4854 VANGL1 0 genome.wustl.edu 37 1 116206712 116206712 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 116206712 116206712 G A SNP VANGL1 ENST00000310260 human ensembl 74_37 +1 known missense c.635 p.R212Q 0.983 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL1 HGNC ENSG00000173218 323 0 0 233 62 21.0169 NOTCH2 0 genome.wustl.edu 37 1 120465373 120465373 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 120465373 120465373 G A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.4888 p.R1630C 1.000 pirsf_Notch,pfam_Notch_NODP_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 247 1 0.403226 175 36 17.0616 CCNL2 0 genome.wustl.edu 37 1 1326184 1326184 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 1326184 1326184 C T SNP CCNL2 ENST00000400809 human ensembl 74_37 -1 known missense c.721 p.A241T 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 143 0 0 87 21 19.4444 PPIAL4G 0 genome.wustl.edu 37 1 143767651 143767651 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 143767651 143767651 G A SNP PPIAL4G ENST00000419275 human ensembl 74_37 -1 known silent c.198 p.D66 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,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 PPIAL4G HGNC ENSG00000236334 504 0 0 461 64 12.1905 PDE4DIP 0 genome.wustl.edu 37 1 145015864 145015864 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 145015864 145015864 T C SNP PDE4DIP ENST00000313382 human ensembl 74_37 -1 known missense c.224 p.E75G 1.000 pfam_Spindle_assoc pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 1650 1 0.0605694 1451 86 5.59532 HIST2H3D 0 genome.wustl.edu 37 1 149784833 149784833 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 149784833 149784833 C T SNP HIST2H3D ENST00000331491 human ensembl 74_37 -1 known missense c.404 p.R135Q 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST2H3D HGNC ENSG00000183598 93 0 0 77 18 18.9474 OTUD7B 0 genome.wustl.edu 37 1 149935967 149935967 + RNA SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 149935967 149935967 T C SNP OTUD7B ENST00000479905 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors OTUD7B HGNC ENSG00000163113 11 0 0 13 4 23.5294 CERS2 0 genome.wustl.edu 37 1 150940936 150940936 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 150940936 150940936 G A SNP CERS2 ENST00000271688 human ensembl 74_37 -1 known silent c.226 p.L76 0.999 superfamily_Homeodomain-like,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_Homeobox_dom pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS2 HGNC ENSG00000143418 60 0 0 69 6 8 ANXA9 0 genome.wustl.edu 37 1 150959137 150959137 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 150959137 150959137 G T SNP ANXA9 ENST00000368947 human ensembl 74_37 +1 known missense c.612 p.Q204H 0.993 pfam_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXXXI - no_errors ANXA9 HGNC ENSG00000143412 102 0 0 72 7 8.86076 FAM63A 0 genome.wustl.edu 37 1 150971889 150971889 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 150971889 150971889 C T SNP FAM63A ENST00000361738 human ensembl 74_37 -1 known missense c.1081 p.V361I 1.000 NULL pfam_DUF544 - no_errors FAM63A HGNC ENSG00000143409 349 0 0 298 61 16.9916 PIP5K1A 0 genome.wustl.edu 37 1 151206963 151206963 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 151206963 151206963 T C SNP PIP5K1A ENST00000368888 human ensembl 74_37 +1 known silent c.930 p.R310 0.976 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC ENSG00000143398 186 0 0 149 32 17.6796 ZNF687 0 genome.wustl.edu 37 1 151259493 151259493 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 151259493 151259493 C T SNP ZNF687 ENST00000324048 human ensembl 74_37 +1 known silent c.726 p.S242 0.011 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 133 0 0 141 16 10.1911 RORC 0 genome.wustl.edu 37 1 151785515 151785515 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 151785515 151785515 C T SNP RORC ENST00000392697 human ensembl 74_37 -1 known missense c.1355 p.S452N 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORC HGNC ENSG00000143365 81 0 0 57 23 28.75 SNAPIN 0 genome.wustl.edu 37 1 153631418 153631418 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 153631418 153631418 G A SNP SNAPIN ENST00000474959 human ensembl 74_37 +1 known rna NULL NULL 0.208 - - - no_errors SNAPIN HGNC ENSG00000143553 22 0 0 15 8 34.7826 KAZN 0 genome.wustl.edu 37 1 15386668 15386668 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 15386668 15386668 C T SNP KAZN ENST00000376030 human ensembl 74_37 +1 known missense c.917 p.A306V 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 97 0 0 75 23 23.4694 NUP210L 0 genome.wustl.edu 37 1 154042791 154042791 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 154042791 154042791 T C SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.2512 p.M838V 0.973 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 272 0 0 231 43 15.6934 ZBTB7B 0 genome.wustl.edu 37 1 154987838 154987838 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 154987838 154987838 G T SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known missense c.804 p.E268D 0.997 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7B HGNC ENSG00000160685 37 0 0 27 9 25 YY1AP1 0 genome.wustl.edu 37 1 155629928 155629928 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 155629928 155629928 G A SNP YY1AP1 ENST00000368339 human ensembl 74_37 -1 known silent c.2187 p.A729 1.000 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 78 0 0 69 21 23.3333 GON4L 0 genome.wustl.edu 37 1 155726824 155726824 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 155726824 155726824 C T SNP GON4L ENST00000368331 human ensembl 74_37 -1 known silent c.5442 p.E1814 0.989 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 129 0 0 105 25 19.2308 MEX3A 0 genome.wustl.edu 37 1 156047022 156047022 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 156047022 156047022 G A SNP MEX3A ENST00000532414 human ensembl 74_37 -1 known silent c.906 p.N302 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 92 0 0 78 16 17.0213 PAQR6 0 genome.wustl.edu 37 1 156215053 156215053 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 156215053 156215053 G A SNP PAQR6 ENST00000470198 human ensembl 74_37 -1 known rna NULL NULL 0.149 - - - no_errors PAQR6 HGNC ENSG00000160781 50 0 0 49 10 16.9492 MIB2 0 genome.wustl.edu 37 1 1563724 1563724 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 1563724 1563724 T C SNP MIB2 ENST00000505820 human ensembl 74_37 +1 known missense c.2258 p.L753P 0.969 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB2 HGNC ENSG00000197530 25 0 0 23 9 28.125 BCAN 0 genome.wustl.edu 37 1 156616629 156616629 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 156616629 156616629 C T SNP BCAN ENST00000329117 human ensembl 74_37 +1 known missense c.128 p.A43V 0.033 pfam_Ig_V-set,smart_Ig_sub pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 38 0 0 39 8 17.0213 BCAN 0 genome.wustl.edu 37 1 156621265 156621265 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 156621265 156621265 G A SNP BCAN ENST00000329117 human ensembl 74_37 +1 known missense c.1081 p.A361T 0.992 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 74 0 0 55 13 19.1176 NES 0 genome.wustl.edu 37 1 156641614 156641614 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 156641614 156641614 T G SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.2366 p.K789T 0.000 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 196 0 0 134 46 25.5556 HDGF 0 genome.wustl.edu 37 1 156713188 156713188 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 156713188 156713188 G A SNP HDGF ENST00000465180 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HDGF HGNC ENSG00000143321 110 0 0 100 12 10.7143 INSRR 0 genome.wustl.edu 37 1 156821927 156821927 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 156821927 156821927 C T SNP INSRR ENST00000368195 human ensembl 74_37 -1 known missense c.694 p.E232K 0.980 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 54 0 0 41 12 22.6415 CD5L 0 genome.wustl.edu 37 1 157803265 157803265 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 157803265 157803265 G T SNP CD5L ENST00000368174 human ensembl 74_37 -1 known silent c.756 p.L252 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 164 0 0 129 20 13.4228 KIRREL 0 genome.wustl.edu 37 1 158063221 158063221 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 158063221 158063221 C T SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.1612 p.R538W 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 123 0 0 102 35 25.5474 AGMAT 0 genome.wustl.edu 37 1 15905525 15905525 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 15905525 15905525 G A SNP AGMAT ENST00000375826 human ensembl 74_37 -1 known silent c.549 p.H183 0.259 pfam_Ureohydrolase,tigrfam_Agmatinase-rel pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ENSG00000116771 48 0 0 47 9 16.0714 CASQ1 0 genome.wustl.edu 37 1 160165298 160165298 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 160165298 160165298 C A SNP CASQ1 ENST00000368078 human ensembl 74_37 +1 known missense c.625 p.P209T 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 83 0 0 89 21 19.0909 ARHGAP30 0 genome.wustl.edu 37 1 161026241 161026241 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 161026241 161026241 G A SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known silent c.282 p.C94 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 36 0 0 37 13 26 FCRLB 0 genome.wustl.edu 37 1 161697329 161697329 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 161697329 161697329 C T SNP FCRLB ENST00000367948 human ensembl 74_37 +1 known silent c.1158 p.S386 0.989 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLB HGNC ENSG00000162746 72 0 0 67 12 15.1899 SPEN 0 genome.wustl.edu 37 1 16199371 16199371 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 16199371 16199371 T C SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.144 p.A48 0.995 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 121 1 0.819672 90 22 19.6429 SPEN 0 genome.wustl.edu 37 1 16261133 16261133 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 16261133 16261133 G A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.8398 p.A2800T 0.003 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 71 0 0 54 4 6.89655 CLCNKB 0 genome.wustl.edu 37 1 16377403 16377403 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 16377403 16377403 G A SNP CLCNKB ENST00000375679 human ensembl 74_37 +1 known missense c.1087 p.D363N 0.995 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKB HGNC ENSG00000184908 65 0 0 42 8 16 CLCNKB 0 genome.wustl.edu 37 1 16378782 16378782 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 16378782 16378782 C T SNP CLCNKB ENST00000375679 human ensembl 74_37 +1 known missense c.1498 p.P500S 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKB HGNC ENSG00000184908 60 0 0 82 20 19.6078 PBX1 0 genome.wustl.edu 37 1 164768972 164768972 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 164768972 164768972 C A SNP PBX1 ENST00000420696 human ensembl 74_37 +1 known missense c.547 p.L183M 1.000 pfam_PBX pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX1 HGNC ENSG00000185630 86 0 0 94 8 7.84314 LMX1A 0 genome.wustl.edu 37 1 165182974 165182974 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 165182974 165182974 G A SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known silent c.573 p.D191 0.997 superfamily_Homeodomain-like pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1A HGNC ENSG00000162761 371 0 0 319 54 14.4772 GPA33 0 genome.wustl.edu 37 1 167024259 167024259 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 167024259 167024259 A G SNP GPA33 ENST00000367868 human ensembl 74_37 -1 known missense c.781 p.C261R 0.537 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors GPA33 HGNC ENSG00000143167 113 0 0 95 22 18.8034 ADCY10 0 genome.wustl.edu 37 1 167792355 167792355 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 167792355 167792355 C T SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known silent c.4059 p.P1353 0.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 97 0 0 57 18 24 GPR161 0 genome.wustl.edu 37 1 168054846 168054846 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 168054846 168054846 T C SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known missense c.1573 p.S525G 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 209 2 0.947867 173 40 18.7793 ATP13A2 0 genome.wustl.edu 37 1 17314702 17314702 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 17314702 17314702 C T SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known silent c.2790 p.S930 0.035 tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 96 0 0 95 21 18.1034 SDHB 0 genome.wustl.edu 37 1 17371343 17371343 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 17371343 17371343 C T SNP SDHB ENST00000375499 human ensembl 74_37 -1 known missense c.113 p.R38H 1.000 superfamily_2Fe-2S_ferredoxin-type superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S - no_errors SDHB HGNC ENSG00000117118 113 0 0 86 21 19.6262 TNR 0 genome.wustl.edu 37 1 175372559 175372559 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 175372559 175372559 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.693 p.S231 0.000 smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 198 0 0 156 27 14.7541 PAPPA2 0 genome.wustl.edu 37 1 176525653 176525653 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 176525653 176525653 T G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.195 p.H65Q 1.000 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,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 PAPPA2 HGNC ENSG00000116183 272 0 0 216 58 21.1679 PAPPA2 0 genome.wustl.edu 37 1 176659457 176659457 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 176659457 176659457 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.2322 p.T774 0.011 pfam_Peptidase_M43 pfam_Notch_dom,pfam_Sushi_SCR_CCP,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 PAPPA2 HGNC ENSG00000116183 208 0 0 159 33 17.1875 ASTN1 0 genome.wustl.edu 37 1 177001708 177001708 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 177001708 177001708 C T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.749 p.R250H 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 128 1 0.775194 116 30 20.5479 TOR3A 0 genome.wustl.edu 37 1 179057302 179057302 + RNA SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 179057302 179057302 C T SNP TOR3A ENST00000495145 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TOR3A HGNC ENSG00000186283 36 0 0 45 13 22.4138 LHX4 0 genome.wustl.edu 37 1 180243505 180243505 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 180243505 180243505 T C SNP LHX4 ENST00000263726 human ensembl 74_37 +1 known missense c.964 p.S322P 0.979 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX4 HGNC ENSG00000121454 373 0 0 316 89 21.9753 MR1 0 genome.wustl.edu 37 1 181018395 181018395 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 181018395 181018395 A G SNP MR1 ENST00000367580 human ensembl 74_37 +1 known missense c.275 p.Q92R 1.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors MR1 HGNC ENSG00000153029 53 0 0 32 12 27.2727 RNASEL 0 genome.wustl.edu 37 1 182555837 182555837 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 182555837 182555837 G A SNP RNASEL ENST00000367559 human ensembl 74_37 -1 known silent c.105 p.N35 0.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors RNASEL HGNC ENSG00000135828 234 0 0 149 48 24.3655 COLGALT2 0 genome.wustl.edu 37 1 183920195 183920195 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 183920195 183920195 C T SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known missense c.1082 p.R361H 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 340 0 0 237 69 22.549 HMCN1 0 genome.wustl.edu 37 1 185962394 185962394 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 185962394 185962394 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.3458 p.T1153I 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 183 0 0 110 34 23.6111 HMCN1 0 genome.wustl.edu 37 1 186114613 186114613 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 186114613 186114613 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.14345 p.R4782H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 123 0 0 85 23 21.2963 BRINP3 0 genome.wustl.edu 37 1 190067293 190067293 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 190067293 190067293 C T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.2156 p.R719H 0.997 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 207 0 0 157 46 22.6601 CDC73 0 genome.wustl.edu 37 1 193205392 193205392 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 193205392 193205392 C T SNP CDC73 ENST00000367435 human ensembl 74_37 +1 known silent c.1323 p.R441 0.146 pfam_RNA_pol_access_fac_Cdc73 pfam_RNA_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 260 0 0 196 61 23.7354 ZNF281 0 genome.wustl.edu 37 1 200377909 200377909 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 200377909 200377909 T G SNP ZNF281 ENST00000294740 human ensembl 74_37 -1 known missense c.925 p.K309Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 476 0 0 332 92 21.6981 DDX59 0 genome.wustl.edu 37 1 200635401 200635401 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 200635401 200635401 A G SNP DDX59 ENST00000331314 human ensembl 74_37 -1 known silent c.468 p.S156 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 204 0 0 148 42 22.1053 LAD1 0 genome.wustl.edu 37 1 201356058 201356058 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 201356058 201356058 C T SNP LAD1 ENST00000367313 human ensembl 74_37 -1 known missense c.473 p.R158Q 0.141 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 168 0 0 159 19 10.6742 KDM5B 0 genome.wustl.edu 37 1 202722105 202722105 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 202722105 202722105 C T SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known silent c.1737 p.V579 0.998 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 121 0 0 89 23 20.5357 MDM4 0 genome.wustl.edu 37 1 204518448 204518448 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 204518448 204518448 G A SNP MDM4 ENST00000367182 human ensembl 74_37 +1 known missense c.1111 p.V371I 1.000 pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM4 HGNC ENSG00000198625 225 0 0 187 64 25.498 CNTN2 0 genome.wustl.edu 37 1 205031109 205031109 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 205031109 205031109 G A SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.1090 p.G364R 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 35 0 0 37 15 28.8462 TMEM81 0 genome.wustl.edu 37 1 205053001 205053001 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 205053001 205053001 C T SNP TMEM81 ENST00000367167 human ensembl 74_37 -1 known missense c.448 p.A150T 0.000 pfscan_Ig-like_dom pfscan_Ig-like_dom - no_errors TMEM81 HGNC ENSG00000174529 172 0 0 157 10 5.98802 PIGR 0 genome.wustl.edu 37 1 207111045 207111045 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 207111045 207111045 G A SNP PIGR ENST00000356495 human ensembl 74_37 -1 known missense c.440 p.T147M 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 36 0 0 31 11 26.1905 CR1 0 genome.wustl.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 207787753 207787753 C T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known nonsense c.6580 p.R2194* 0.477 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 91 0 0 104 7 6.30631 CR1 0 genome.wustl.edu 37 1 207787831 207787831 + Nonsense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 207787831 207787831 G T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known nonsense c.6658 p.E2220* 1.000 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 82 0 0 102 8 7.27273 LAMB3 0 genome.wustl.edu 37 1 209803987 209803987 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 209803987 209803987 C T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known missense c.916 p.E306K 0.999 smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 80 0 0 44 25 36.2319 TRAF3IP3 0 genome.wustl.edu 37 1 209933427 209933427 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 209933427 209933427 T C SNP TRAF3IP3 ENST00000367024 human ensembl 74_37 +1 known missense c.43 p.W15R 0.025 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 38 0 0 45 7 13.4615 SH2D5 0 genome.wustl.edu 37 1 21051063 21051063 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 21051063 21051063 C T SNP SH2D5 ENST00000444387 human ensembl 74_37 -1 known silent c.456 p.E152 1.000 smart_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH2 - no_errors SH2D5 HGNC ENSG00000189410 18 0 0 15 6 28.5714 HHAT 0 genome.wustl.edu 37 1 210637863 210637863 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 210637863 210637863 G A SNP HHAT ENST00000391905 human ensembl 74_37 +1 known missense c.871 p.A291T 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 386 0 0 293 79 21.2366 RCOR3 0 genome.wustl.edu 37 1 211444604 211444604 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 211444604 211444604 G T SNP RCOR3 ENST00000367005 human ensembl 74_37 +1 known missense c.80 p.G27V 1.000 pfam_ELM2_dom,pfscan_ELM2_dom pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR3 HGNC ENSG00000117625 150 0 0 141 18 11.3208 RPS6KC1 0 genome.wustl.edu 37 1 213445950 213445950 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 213445950 213445950 T C SNP RPS6KC1 ENST00000366960 human ensembl 74_37 +1 known silent c.3174 p.P1058 0.999 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors RPS6KC1 HGNC ENSG00000136643 137 0 0 90 26 22.4138 PTPN14 0 genome.wustl.edu 37 1 214638039 214638039 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 214638039 214638039 C T SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known silent c.108 p.T36 0.018 pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 95 0 0 81 8 8.98876 ESRRG 0 genome.wustl.edu 37 1 216850489 216850489 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 216850489 216850489 A G SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known missense c.401 p.I134T 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 209 0 0 162 49 23.2227 GPATCH2 0 genome.wustl.edu 37 1 217671577 217671577 + RNA SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 217671577 217671577 C A SNP GPATCH2 ENST00000485274 human ensembl 74_37 -1 known rna NULL NULL 0.019 - - - no_errors GPATCH2 HGNC ENSG00000092978 131 0 0 93 27 22.5 ALPL 0 genome.wustl.edu 37 1 21890655 21890655 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 21890655 21890655 C T SNP ALPL ENST00000374832 human ensembl 74_37 +1 known silent c.594 p.S198 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC ENSG00000162551 63 0 0 57 7 10.9375 HSPG2 0 genome.wustl.edu 37 1 22206641 22206641 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 22206641 22206641 C A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.2302 p.G768C 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 64 0 0 74 14 15.9091 DISP1 0 genome.wustl.edu 37 1 223176686 223176686 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 223176686 223176686 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.1947 p.V649 1.000 pfam_Patched,pfam_MMPL_dom,pfscan_SSD pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 247 0 0 197 44 18.2573 DISP1 0 genome.wustl.edu 37 1 223178672 223178672 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 223178672 223178672 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.3933 p.G1311 0.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 185 0 0 142 33 18.8571 SKI 0 genome.wustl.edu 37 1 2237529 2237529 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 2237529 2237529 G A SNP SKI ENST00000378536 human ensembl 74_37 +1 known missense c.1838 p.R613Q 1.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 8 0 0 6 4 40 ADCK3 0 genome.wustl.edu 37 1 227171262 227171262 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 227171262 227171262 G A SNP ADCK3 ENST00000366777 human ensembl 74_37 +1 known missense c.1090 p.V364M 0.999 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 97 0 0 75 22 22.6804 OBSCN 0 genome.wustl.edu 37 1 228466971 228466971 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 228466971 228466971 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.7222 p.R2408W 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 71 0 0 52 9 14.7541 OBSCN 0 genome.wustl.edu 37 1 228495060 228495060 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 228495060 228495060 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.12294 p.A4098 0.006 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 42 0 0 21 14 40 ACTA1 0 genome.wustl.edu 37 1 229568041 229568041 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 229568041 229568041 G A SNP ACTA1 ENST00000366684 human ensembl 74_37 -1 known missense c.592 p.R198C 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA1 HGNC ENSG00000143632 27 0 0 25 8 24.2424 URB2 0 genome.wustl.edu 37 1 229772467 229772467 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 229772467 229772467 G A SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.2107 p.D703N 0.167 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 378 0 0 270 37 12.0521 SIPA1L2 0 genome.wustl.edu 37 1 232649957 232649957 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 232649957 232649957 A G SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.1129 p.C377R 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 293 1 0.340136 199 17 7.87037 LUZP1 0 genome.wustl.edu 37 1 23419294 23419294 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 23419294 23419294 C T SNP LUZP1 ENST00000302291 human ensembl 74_37 -1 known silent c.1461 p.A487 0.000 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 374 1 0.266667 295 67 18.5083 RYR2 0 genome.wustl.edu 37 1 237777646 237777646 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 237777646 237777646 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.5212 p.P1738S 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 76 0 0 49 12 19.6721 ZBTB18 0 genome.wustl.edu 37 1 244218598 244218598 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 244218598 244218598 A G SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.1522 p.K508E 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 183 0 0 140 42 23.0769 PANK4 0 genome.wustl.edu 37 1 2445527 2445527 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 2445527 2445527 C T SNP PANK4 ENST00000378466 human ensembl 74_37 -1 known missense c.1489 p.A497T 1.000 superfamily_DUF89,pirsf_PanK_long pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK - no_errors PANK4 HGNC ENSG00000157881 140 0 0 177 15 7.8125 OR2B11 0 genome.wustl.edu 37 1 247614857 247614857 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 247614857 247614857 G A SNP OR2B11 ENST00000318749 human ensembl 74_37 -1 known missense c.428 p.A143V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B11 HGNC ENSG00000177535 100 0 0 92 13 12.381 OR2W5 0 genome.wustl.edu 37 1 247654874 247654874 + RNA SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 247654874 247654874 T C SNP OR2W5 ENST00000522351 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors OR2W5 HGNC ENSG00000203664 101 0 0 100 27 21.2598 RUNX3 0 genome.wustl.edu 37 1 25245743 25245743 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 25245743 25245743 G A SNP RUNX3 ENST00000338888 human ensembl 74_37 -1 known missense c.574 p.R192W 1.000 pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX3 HGNC ENSG00000020633 59 0 0 50 11 18.0328 RPS6KA1 0 genome.wustl.edu 37 1 26881655 26881655 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 26881655 26881655 C T SNP RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known missense c.797 p.T266M 1.000 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 47 0 0 56 8 12.5 SLC9A1 0 genome.wustl.edu 37 1 27426921 27426921 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 27426921 27426921 G A SNP SLC9A1 ENST00000263980 human ensembl 74_37 -1 known silent c.2325 p.D775 0.231 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 133 0 0 122 26 17.5676 SLC9A1 0 genome.wustl.edu 37 1 27436222 27436222 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 27436222 27436222 C T SNP SLC9A1 ENST00000263980 human ensembl 74_37 -1 known missense c.860 p.G287D 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 144 0 0 121 16 11.6788 ACTRT2 0 genome.wustl.edu 37 1 2938781 2938781 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 2938781 2938781 C T SNP ACTRT2 ENST00000378404 human ensembl 74_37 +1 known silent c.531 p.H177 0.958 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 82 0 0 61 16 20.7792 PTPRU 0 genome.wustl.edu 37 1 29587410 29587410 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 29587410 29587410 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.1139 p.C380Y 1.000 superfamily_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 52 0 0 49 12 19.6721 COL16A1 0 genome.wustl.edu 37 1 32148593 32148593 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 32148593 32148593 C A SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known missense c.2477 p.G826V 0.992 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 86 0 0 75 23 23.4694 BAI2 0 genome.wustl.edu 37 1 32221745 32221745 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 32221745 32221745 G A SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known silent c.693 p.A231 0.001 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 30 0 0 31 7 18.4211 SPOCD1 0 genome.wustl.edu 37 1 32280436 32280436 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 32280436 32280436 C T SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.499 p.A167T 0.003 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 154 0 0 134 34 20.2381 KHDRBS1 0 genome.wustl.edu 37 1 32508218 32508218 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 32508218 32508218 G A SNP KHDRBS1 ENST00000327300 human ensembl 74_37 +1 known missense c.1325 p.R442H 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS1 HGNC ENSG00000121774 64 0 0 59 12 16.9014 TMEM39B 0 genome.wustl.edu 37 1 32566073 32566073 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 32566073 32566073 C T SNP TMEM39B ENST00000336294 human ensembl 74_37 +1 known silent c.1146 p.G382 0.750 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39B HGNC ENSG00000121775 66 0 0 49 12 19.6721 TMEM39B 0 genome.wustl.edu 37 1 32568262 32568262 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 32568262 32568262 C T SNP TMEM39B ENST00000336294 human ensembl 74_37 +1 known silent c.1467 p.H489 0.996 NULL pfam_Uncharacterised_TMEM39 - no_errors TMEM39B HGNC ENSG00000121775 57 0 0 73 20 21.5054 KIAA1522 0 genome.wustl.edu 37 1 33237700 33237700 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 33237700 33237700 T G SNP KIAA1522 ENST00000401073 human ensembl 74_37 +1 known missense c.2920 p.F974V 1.000 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 28 0 0 25 6 19.3548 YARS 0 genome.wustl.edu 37 1 33276252 33276252 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 33276252 33276252 C A SNP YARS ENST00000373477 human ensembl 74_37 -1 known missense c.320 p.S107I 1.000 pfam_aa-tRNA-synth_Ic,tigrfam_Tyr-tRNA-ligase pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,prints_Tyr-tRNA-ligase,pfscan_tRNA-bd_dom,tigrfam_Tyr-tRNA-ligase - no_errors YARS HGNC ENSG00000134684 198 0 0 150 29 16.2011 CSMD2 0 genome.wustl.edu 37 1 34042964 34042964 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 34042964 34042964 C A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.7508 p.S2503I 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 112 1 0.884956 96 26 21.3115 CSMD2 0 genome.wustl.edu 37 1 34209180 34209180 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 34209180 34209180 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.1874 p.P625L 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 66 0 0 62 18 22.5 DLGAP3 0 genome.wustl.edu 37 1 35370066 35370066 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 35370066 35370066 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known missense c.919 p.G307R 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 86 0 0 77 12 13.4831 ADPRHL2 0 genome.wustl.edu 37 1 36557382 36557382 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 36557382 36557382 G A SNP ADPRHL2 ENST00000373178 human ensembl 74_37 +1 known missense c.472 p.A158T 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 - no_errors ADPRHL2 HGNC ENSG00000116863 47 0 0 47 13 21.6667 SH3D21 0 genome.wustl.edu 37 1 36785329 36785329 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 36785329 36785329 G A SNP SH3D21 ENST00000453908 human ensembl 74_37 +1 known missense c.1065 p.M355I 0.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC ENSG00000214193 33 0 0 20 10 33.3333 ZC3H12A 0 genome.wustl.edu 37 1 37948726 37948726 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 37948726 37948726 G A SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known silent c.1314 p.S438 0.001 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 36 0 0 35 7 16.6667 INPP5B 0 genome.wustl.edu 37 1 38338648 38338648 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 38338648 38338648 A G SNP INPP5B ENST00000373023 human ensembl 74_37 -1 known missense c.2381 p.M794T 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 103 0 0 92 21 18.5841 KCNQ4 0 genome.wustl.edu 37 1 41250056 41250056 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 41250056 41250056 G T SNP KCNQ4 ENST00000347132 human ensembl 74_37 +1 known missense c.291 p.W97C 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ4 HGNC ENSG00000117013 18 0 0 27 8 22.8571 FOXJ3 0 genome.wustl.edu 37 1 42657107 42657107 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 42657107 42657107 T C SNP FOXJ3 ENST00000361346 human ensembl 74_37 -1 known silent c.1218 p.Q406 0.999 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ3 HGNC ENSG00000198815 127 0 0 111 7 5.9322 WDR65 0 genome.wustl.edu 37 1 43664312 43664312 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 43664312 43664312 G A SNP WDR65 ENST00000528956 human ensembl 74_37 +1 known missense c.1423 p.G475R 0.996 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 91 0 0 76 17 18.2796 SZT2 0 genome.wustl.edu 37 1 43888980 43888980 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 43888980 43888980 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.2248 p.L750F 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 49 0 0 36 7 16.2791 EIF2B3 0 genome.wustl.edu 37 1 45407190 45407190 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 45407190 45407190 T C SNP EIF2B3 ENST00000360403 human ensembl 74_37 -1 known missense c.442 p.K148E 1.000 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 279 0 0 201 43 17.623 UROD 0 genome.wustl.edu 37 1 45480642 45480642 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 45480642 45480642 G T SNP UROD ENST00000246337 human ensembl 74_37 +1 known missense c.906 p.Q302H 1.000 pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE - no_errors UROD HGNC ENSG00000126088 200 0 0 142 29 16.9591 MMACHC 0 genome.wustl.edu 37 1 45973071 45973071 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 45973071 45973071 C T SNP MMACHC ENST00000401061 human ensembl 74_37 +1 known missense c.125 p.P42L 0.993 NULL NULL - no_errors MMACHC HGNC ENSG00000132763 84 0 0 65 7 9.72222 MAST2 0 genome.wustl.edu 37 1 46496962 46496962 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 46496962 46496962 G T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.2992 p.A998S 0.976 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 38 0 0 35 16 31.3725 SPATA6 0 genome.wustl.edu 37 1 48771536 48771536 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 48771536 48771536 T C SNP SPATA6 ENST00000371847 human ensembl 74_37 -1 known silent c.1209 p.L403 0.625 NULL NULL - no_errors SPATA6 HGNC ENSG00000132122 273 0 0 208 13 5.88235 RPL22 0 genome.wustl.edu 37 1 6246782 6246782 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 6246782 6246782 G A SNP RPL22 ENST00000234875 human ensembl 74_37 -1 known missense c.337 p.R113C 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 49 0 0 45 12 21.0526 PDE4B 0 genome.wustl.edu 37 1 66834549 66834549 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 66834549 66834549 G A SNP PDE4B ENST00000329654 human ensembl 74_37 +1 known missense c.1742 p.R581H 1.000 pfam_PDEase_catalytic_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 164 0 0 130 35 21.2121 TNFRSF9 0 genome.wustl.edu 37 1 7993307 7993307 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 7993307 7993307 C T SNP TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known silent c.594 p.A198 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9 - no_errors TNFRSF9 HGNC ENSG00000049249 56 0 0 52 9 14.7541 GBP6 0 genome.wustl.edu 37 1 89849285 89849285 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 89849285 89849285 C T SNP GBP6 ENST00000370456 human ensembl 74_37 +1 known silent c.1440 p.A480 0.032 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP6 HGNC ENSG00000183347 123 0 0 101 26 20.4724 LRRC8D 0 genome.wustl.edu 37 1 90398726 90398726 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 90398726 90398726 T C SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known silent c.99 p.V33 0.934 pfam_LRR_protein-8_N pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 226 0 0 167 48 22.3256 LRRC8D 0 genome.wustl.edu 37 1 90400443 90400443 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 90400443 90400443 A G SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known missense c.1816 p.I606V 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 197 0 0 186 14 7 EVI5 0 genome.wustl.edu 37 1 92979232 92979232 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 92979232 92979232 G A SNP EVI5 ENST00000543509 human ensembl 74_37 -1 known missense c.2447 p.S816L 0.428 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 283 0 0 183 39 17.5676 RPL5 0 genome.wustl.edu 37 1 93303108 93303108 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 93303108 93303108 T C SNP RPL5 ENST00000370321 human ensembl 74_37 +1 known missense c.623 p.M208T 1.000 prints_Rbsml_L5_euk/L18_arc pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc - no_errors RPL5 HGNC ENSG00000122406 110 0 0 72 5 6.49351 CNN3 0 genome.wustl.edu 37 1 95368702 95368702 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 95368702 95368702 G A SNP CNN3 ENST00000370206 human ensembl 74_37 -1 known silent c.222 p.N74 0.520 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_Calponin pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN3 HGNC ENSG00000117519 100 0 0 58 19 24.6753 COX15 0 genome.wustl.edu 37 10 101486739 101486739 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 101486739 101486739 G T SNP COX15 ENST00000016171 human ensembl 74_37 -1 known missense c.568 p.L190I 0.998 pfam_HemeA_syn pfam_HemeA_syn,superfamily_Trypsin-like_Pept_dom - no_errors COX15 HGNC ENSG00000014919 82 0 0 88 10 10.2041 COX15 0 genome.wustl.edu 37 10 101489383 101489383 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 101489383 101489383 G A SNP COX15 ENST00000016171 human ensembl 74_37 -1 known missense c.199 p.R67W 1.000 superfamily_Trypsin-like_Pept_dom pfam_HemeA_syn,superfamily_Trypsin-like_Pept_dom - no_errors COX15 HGNC ENSG00000014919 256 0 0 197 50 20.2429 LBX1 0 genome.wustl.edu 37 10 102987152 102987152 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 102987152 102987152 C T SNP LBX1 ENST00000370193 human ensembl 74_37 -1 known missense c.721 p.A241T 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 17 0 0 12 4 25 NFKB2 0 genome.wustl.edu 37 10 104160088 104160088 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 104160088 104160088 G T SNP NFKB2 ENST00000369966 human ensembl 74_37 +1 known silent c.1638 p.L546 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 110 0 0 105 17 13.9344 CALHM1 0 genome.wustl.edu 37 10 105215212 105215212 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 105215212 105215212 G A SNP CALHM1 ENST00000329905 human ensembl 74_37 -1 known missense c.848 p.A283V 0.003 NULL NULL - no_errors CALHM1 HGNC ENSG00000185933 34 0 0 27 5 15.625 COL17A1 0 genome.wustl.edu 37 10 105809853 105809853 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 105809853 105809853 G T SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.2158 p.L720I 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 48 0 0 42 12 22.2222 ADD3 0 genome.wustl.edu 37 10 111878421 111878421 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 111878421 111878421 C A SNP ADD3 ENST00000356080 human ensembl 74_37 +1 known missense c.644 p.P215H 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 120 0 0 99 50 33.557 SMC3 0 genome.wustl.edu 37 10 112338430 112338430 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 112338430 112338430 G A SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known missense c.395 p.R132Q 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 52 0 0 37 10 21.2766 AFAP1L2 0 genome.wustl.edu 37 10 116073684 116073684 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 116073684 116073684 G A SNP AFAP1L2 ENST00000545353 human ensembl 74_37 -1 known silent c.897 p.A299 0.220 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L2 HGNC ENSG00000169129 112 0 0 73 12 14.1176 PNLIPRP2 0 genome.wustl.edu 37 10 118404543 118404543 + Splice_Site SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 118404543 118404543 A G SNP PNLIPRP2 ENST00000537242 human ensembl 74_37 +1 known splice_site c.1344-2 e13-2 1.000 - - - no_errors PNLIPRP2 HGNC ENSG00000165862 52 0 0 37 18 32.7273 KIAA1598 0 genome.wustl.edu 37 10 118700118 118700118 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 118700118 118700118 G T SNP KIAA1598 ENST00000392903 human ensembl 74_37 -1 known missense c.717 p.F239L 1.000 NULL superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 145 0 0 126 20 13.6986 VAX1 0 genome.wustl.edu 37 10 118896101 118896101 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 118896101 118896101 C T SNP VAX1 ENST00000369206 human ensembl 74_37 -1 known missense c.311 p.R104H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors VAX1 HGNC ENSG00000148704 70 0 0 49 13 20.9677 EIF3A 0 genome.wustl.edu 37 10 120796733 120796733 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 120796733 120796733 G A SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known missense c.3817 p.R1273C 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 249 0 0 242 16 6.20155 RGS10 0 genome.wustl.edu 37 10 121275031 121275031 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 121275031 121275031 A G SNP RGS10 ENST00000369103 human ensembl 74_37 -1 known missense c.389 p.L130P 0.888 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS10 HGNC ENSG00000148908 79 0 0 70 21 23.0769 FGFR2 0 genome.wustl.edu 37 10 123279676 123279676 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 123279676 123279676 C T SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known silent c.756 p.S252 0.000 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 38 0 0 41 3 6.81818 TACC2 0 genome.wustl.edu 37 10 123843197 123843197 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 123843197 123843197 C T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known silent c.1182 p.G394 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 76 0 0 84 22 20.7547 C10orf90 0 genome.wustl.edu 37 10 128150089 128150089 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 128150089 128150089 T C SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.1891 p.T631A 0.000 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 78 0 0 39 8 17.0213 MKI67 0 genome.wustl.edu 37 10 129903773 129903773 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 129903773 129903773 T C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.6331 p.M2111V 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 767 0 0 711 48 6.32411 MKI67 0 genome.wustl.edu 37 10 129904519 129904519 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 129904519 129904519 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.5585 p.P1862L 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 548 0 0 485 118 19.5688 CYP2E1 0 genome.wustl.edu 37 10 135347279 135347279 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 135347279 135347279 G A SNP CYP2E1 ENST00000252945 human ensembl 74_37 +1 known missense c.845 p.R282H 0.004 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2E-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 122 0 0 110 25 18.5185 FRG2B 0 genome.wustl.edu 37 10 135438851 135438851 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 135438851 135438851 G T SNP FRG2B ENST00000425520 human ensembl 74_37 -1 known missense c.589 p.Q197K 0.559 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 150 0 0 141 25 15.0602 CDNF 0 genome.wustl.edu 37 10 14867588 14867588 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 14867588 14867588 G A SNP CDNF ENST00000465530 human ensembl 74_37 -1 known missense c.275 p.A92V 1.000 pfam_Armet_prot pfam_Armet_prot - no_errors CDNF HGNC ENSG00000185267 277 1 0.359712 213 34 13.7652 FAM171A1 0 genome.wustl.edu 37 10 15256478 15256478 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 15256478 15256478 G A SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.1109 p.A370V 0.856 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 79 0 0 49 18 26.8657 MYO3A 0 genome.wustl.edu 37 10 26454836 26454836 + RNA SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 26454836 26454836 G T SNP MYO3A ENST00000477691 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MYO3A HGNC ENSG00000095777 49 0 0 34 7 17.0732 ANKRD30A 0 genome.wustl.edu 37 10 37508154 37508154 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 37508154 37508154 A G SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.3346 p.I1116V 0.070 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 275 0 0 202 70 25.7353 ENSG00000272373 0 genome.wustl.edu 37 10 43127359 43127359 + RNA SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 43127359 43127359 C T SNP ENSG00000272373 ENST00000476796 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors ZNF33B Clone_based_vega_gene ENSG00000272373 564 0 0 399 91 18.5714 BMS1 0 genome.wustl.edu 37 10 43287077 43287077 + Silent SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 43287077 43287077 T G SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known silent c.639 p.G213 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 198 1 0.502513 179 17 8.67347 BMS1 0 genome.wustl.edu 37 10 43326431 43326431 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 43326431 43326431 G A SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known missense c.3736 p.E1246K 1.000 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 27 0 0 23 8 25.8065 HNRNPF 0 genome.wustl.edu 37 10 43882124 43882124 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 43882124 43882124 G A SNP HNRNPF ENST00000337970 human ensembl 74_37 -1 known silent c.1209 p.A403 0.113 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPF HGNC ENSG00000169813 184 0 0 142 45 24.0642 MARCH8 0 genome.wustl.edu 37 10 45956953 45956953 + RNA SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 45956953 45956953 A T SNP MARCH8 ENST00000476962 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors MARCH8 HGNC ENSG00000165406 26 0 0 18 4 18.1818 ANXA8L2 0 genome.wustl.edu 37 10 47751190 47751190 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 47751190 47751190 C A SNP ANXA8L2 ENST00000374277 human ensembl 74_37 +1 known missense c.67 p.P23T 1.000 prints_AnnexinIII pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVIII,prints_AnnexinIII - no_errors ANXA8L2 HGNC ENSG00000186807 10 0 0 9 5 35.7143 GDF2 0 genome.wustl.edu 37 10 48414360 48414360 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 48414360 48414360 C T SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known missense c.508 p.V170M 0.576 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 91 0 0 83 24 22.4299 ERCC6 0 genome.wustl.edu 37 10 50667115 50667115 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 50667115 50667115 C T SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.4228 p.G1410R 0.049 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 203 0 0 160 52 24.5283 ERCC6 0 genome.wustl.edu 37 10 50682250 50682250 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 50682250 50682250 G A SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known silent c.2421 p.N807 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 213 0 0 168 37 18.0488 ERCC6 0 genome.wustl.edu 37 10 50686478 50686478 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 50686478 50686478 A G SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known silent c.2208 p.D736 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 443 1 0.225225 349 68 16.307 CHAT 0 genome.wustl.edu 37 10 50863468 50863468 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 50863468 50863468 C T SNP CHAT ENST00000337653 human ensembl 74_37 +1 known missense c.1813 p.R605C 0.025 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 202 0 0 187 40 17.6211 DKK1 0 genome.wustl.edu 37 10 54074806 54074806 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 54074806 54074806 C T SNP DKK1 ENST00000373970 human ensembl 74_37 +1 known missense c.367 p.R123C 1.000 pfam_Dickkopf_N pfam_Dickkopf_N - no_errors DKK1 HGNC ENSG00000107984 64 0 0 37 16 30.1887 ANKRD16 0 genome.wustl.edu 37 10 5931081 5931081 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 5931081 5931081 G T SNP ANKRD16 ENST00000380092 human ensembl 74_37 -1 known silent c.237 p.A79 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD16 HGNC ENSG00000134461 24 0 0 28 3 9.67742 ANK3 0 genome.wustl.edu 37 10 61941099 61941099 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 61941099 61941099 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.2172 p.D724 0.984 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 292 1 0.341297 253 19 6.98529 HKDC1 0 genome.wustl.edu 37 10 71020998 71020998 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 71020998 71020998 C T SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known missense c.2320 p.R774C 0.941 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 88 0 0 77 17 18.0851 PSAP 0 genome.wustl.edu 37 10 73577214 73577214 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 73577214 73577214 C T SNP PSAP ENST00000394934 human ensembl 74_37 -1 known missense c.1565 p.R522H 0.994 pirsf_Saposin_chordata,pfam_SapA,smart_SapA,pfscan_SapA pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAP HGNC ENSG00000197746 230 0 0 206 29 12.3404 MICU1 0 genome.wustl.edu 37 10 74135630 74135630 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 74135630 74135630 A G SNP MICU1 ENST00000398761 human ensembl 74_37 -1 known missense c.1187 p.V396A 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU1 HGNC ENSG00000107745 22 0 0 21 3 12.5 USP54 0 genome.wustl.edu 37 10 75296060 75296060 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 75296060 75296060 A G SNP USP54 ENST00000339859 human ensembl 74_37 -1 known missense c.1111 p.Y371H 0.966 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 108 0 0 85 18 17.4757 USP54 0 genome.wustl.edu 37 10 75301542 75301542 + RNA SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 75301542 75301542 A G SNP USP54 ENST00000492357 human ensembl 74_37 -1 putative rna NULL NULL 0.006 - - - no_errors USP54 HGNC ENSG00000166348 36 0 0 27 6 18.1818 ADK 0 genome.wustl.edu 37 10 76074474 76074474 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 76074474 76074474 T G SNP ADK ENST00000286621 human ensembl 74_37 +1 known missense c.244 p.S82A 1.000 pfam_PfkB_dom pfam_PfkB_dom,prints_Adenokinase - no_errors ADK HGNC ENSG00000156110 93 0 0 61 22 26.506 ITIH5 0 genome.wustl.edu 37 10 7618870 7618870 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 7618870 7618870 G A SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known silent c.1524 p.N508 0.996 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 98 0 0 93 22 19.1304 KAT6B 0 genome.wustl.edu 37 10 76784854 76784854 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 76784854 76784854 C T SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known nonsense c.3511 p.Q1171* 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 76 0 0 78 8 9.30233 SAMD8 0 genome.wustl.edu 37 10 76910646 76910646 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 76910646 76910646 C T SNP SAMD8 ENST00000372690 human ensembl 74_37 +1 known silent c.549 p.D183 0.998 NULL pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD8 HGNC ENSG00000156671 156 0 0 142 17 10.6918 ACTA2 0 genome.wustl.edu 37 10 90699305 90699305 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 90699305 90699305 C T SNP ACTA2 ENST00000224784 human ensembl 74_37 -1 known missense c.767 p.R256H 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 171 0 0 147 34 18.7845 IFIT2 0 genome.wustl.edu 37 10 91066258 91066258 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 91066258 91066258 G T SNP IFIT2 ENST00000371826 human ensembl 74_37 +1 known missense c.545 p.S182I 0.009 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC ENSG00000119922 65 0 0 63 8 11.2676 KIF20B 0 genome.wustl.edu 37 10 91478615 91478615 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 91478615 91478615 G A SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known missense c.1420 p.A474T 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 135 0 0 94 25 21.0084 ANKRD1 0 genome.wustl.edu 37 10 92672639 92672639 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 92672639 92672639 C T SNP ANKRD1 ENST00000371697 human ensembl 74_37 -1 known missense c.944 p.R315H 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD1 HGNC ENSG00000148677 390 0 0 285 59 17.1512 TUBB8 0 genome.wustl.edu 37 10 93721 93721 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 93721 93721 T A SNP TUBB8 ENST00000309812 human ensembl 74_37 -1 known missense c.611 p.N204I 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 262 0 0 219 12 5.19481 HHEX 0 genome.wustl.edu 37 10 94452213 94452213 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 94452213 94452213 C T SNP HHEX ENST00000282728 human ensembl 74_37 +1 known silent c.450 p.I150 0.996 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HHEX HGNC ENSG00000152804 74 0 0 58 9 13.4328 LGI1 0 genome.wustl.edu 37 10 95518094 95518094 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 95518094 95518094 G A SNP LGI1 ENST00000371418 human ensembl 74_37 +1 known missense c.193 p.V65I 1.000 NULL pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC ENSG00000108231 192 0 0 162 47 22.488 ENTPD1-AS1 0 genome.wustl.edu 37 10 97779109 97779109 + RNA SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 97779109 97779109 A G SNP ENTPD1-AS1 ENST00000458228 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ENTPD1-AS1 HGNC ENSG00000226688 162 0 0 122 36 22.7848 FRAT1 0 genome.wustl.edu 37 10 99079988 99079988 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 99079988 99079988 C T SNP FRAT1 ENST00000371021 human ensembl 74_37 +1 known missense c.778 p.P260S 0.519 NULL pfam_GSK3-bd - no_errors FRAT1 HGNC ENSG00000165879 14 0 0 10 5 33.3333 DYNC2H1 0 genome.wustl.edu 37 11 102992131 102992131 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 102992131 102992131 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.1391 p.R464Q 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 74 0 0 48 6 11.1111 DYNC2H1 0 genome.wustl.edu 37 11 103041640 103041640 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 103041640 103041640 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.5177 p.R1726Q 0.997 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 44 0 0 33 5 13.1579 MUC2 0 genome.wustl.edu 37 11 1075884 1075884 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 1075884 1075884 T C SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.310 p.Y104H 0.996 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 9 0 0 7 5 41.6667 NPAT 0 genome.wustl.edu 37 11 108040522 108040522 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 108040522 108040522 C T SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.2959 p.V987I 0.021 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 318 0 0 211 63 22.9927 ATM 0 genome.wustl.edu 37 11 108160489 108160489 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 108160489 108160489 G A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.4397 p.R1466Q 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,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 ATM HGNC ENSG00000149311 127 0 0 73 20 21.5054 MUC2 0 genome.wustl.edu 37 11 1082685 1082685 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 1082685 1082685 T C SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.1934 p.M645T 0.029 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 14 0 0 15 7 31.8182 KDELC2 0 genome.wustl.edu 37 11 108351905 108351905 + Splice_Site SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 108351905 108351905 A G SNP KDELC2 ENST00000323468 human ensembl 74_37 -1 known splice_site c.1098+2 e5+2 1.000 - - - no_errors KDELC2 HGNC ENSG00000178202 328 0 0 196 66 25.1908 TTC12 0 genome.wustl.edu 37 11 113196305 113196305 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 113196305 113196305 C T SNP TTC12 ENST00000314756 human ensembl 74_37 +1 known missense c.382 p.R128C 0.000 superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC ENSG00000149292 115 0 0 88 23 20.7207 FXYD6-FXYD2 0 genome.wustl.edu 37 11 117710514 117710514 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 117710514 117710514 A G SNP FXYD6-FXYD2 ENST00000532984 human ensembl 74_37 -1 known missense c.254 p.V85A 0.291 NULL pfam_Ion-transport_regulator_FXYD - no_errors FXYD6-FXYD2 HGNC ENSG00000255245 190 1 0.52356 176 29 14.1463 KMT2A 0 genome.wustl.edu 37 11 118375926 118375926 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 118375926 118375926 T C SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known silent c.9310 p.L3104 0.993 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 419 1 0.238095 338 72 17.561 KMT2A 0 genome.wustl.edu 37 11 118379858 118379858 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 118379858 118379858 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.10834 p.A3612T 0.785 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 70 0 0 53 6 10.1695 IFT46 0 genome.wustl.edu 37 11 118427698 118427698 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 118427698 118427698 A G SNP IFT46 ENST00000264020 human ensembl 74_37 -1 known silent c.261 p.D87 0.561 NULL pfam_Intraflagellar_transp_cmplxB - no_errors IFT46 HGNC ENSG00000118096 170 1 0.584795 138 45 24.5902 PDZD3 0 genome.wustl.edu 37 11 119057184 119057184 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 119057184 119057184 C T SNP PDZD3 ENST00000392817 human ensembl 74_37 +1 known missense c.313 p.P105S 0.249 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC ENSG00000172367 98 0 0 86 25 22.5225 ARHGEF12 0 genome.wustl.edu 37 11 120298860 120298860 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 120298860 120298860 G A SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known silent c.432 p.P144 0.095 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 358 1 0.278552 279 75 21.1864 TECTA 0 genome.wustl.edu 37 11 121037453 121037453 + Silent SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 121037453 121037453 C A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.5550 p.I1850 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 99 0 0 76 22 22.449 SORL1 0 genome.wustl.edu 37 11 121460806 121460806 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 121460806 121460806 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.4136 p.G1379D 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 326 1 0.30581 257 55 17.6282 UBASH3B 0 genome.wustl.edu 37 11 122659877 122659877 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 122659877 122659877 A G SNP UBASH3B ENST00000284273 human ensembl 74_37 +1 known missense c.841 p.I281V 1.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 413 0 0 348 76 17.9245 CLMP 0 genome.wustl.edu 37 11 122944466 122944466 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 122944466 122944466 G C SNP CLMP ENST00000448775 human ensembl 74_37 -1 known missense c.838 p.P280A 0.999 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD47_Vset,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CLMP HGNC ENSG00000166250 166 0 0 134 32 19.2771 ZNF202 0 genome.wustl.edu 37 11 123597620 123597620 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 123597620 123597620 T C SNP ZNF202 ENST00000336139 human ensembl 74_37 -1 known silent c.1032 p.G344 0.419 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ENSG00000166261 539 0 0 539 35 6.09756 OR8G5 0 genome.wustl.edu 37 11 124135342 124135342 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 124135342 124135342 A G SNP OR8G5 ENST00000524943 human ensembl 74_37 +1 known missense c.620 p.D207G 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8G5 HGNC ENSG00000255298 410 0 0 341 60 14.9626 ESAM 0 genome.wustl.edu 37 11 124626554 124626554 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 124626554 124626554 G A SNP ESAM ENST00000278927 human ensembl 74_37 -1 known missense c.334 p.R112W 0.008 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ESAM HGNC ENSG00000149564 136 0 0 126 13 9.35252 ROBO3 0 genome.wustl.edu 37 11 124749423 124749423 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 124749423 124749423 C T SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.3748 p.R1250W 0.970 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 37 0 0 38 4 9.52381 STT3A 0 genome.wustl.edu 37 11 125472242 125472242 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 125472242 125472242 T C SNP STT3A ENST00000392708 human ensembl 74_37 +1 known missense c.194 p.F65S 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 97 0 0 56 10 15.1515 GLB1L2 0 genome.wustl.edu 37 11 134238664 134238664 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 134238664 134238664 T C SNP GLB1L2 ENST00000339772 human ensembl 74_37 +1 known missense c.1016 p.V339A 0.997 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L2 HGNC ENSG00000149328 83 0 0 49 19 27.9412 FAR1 0 genome.wustl.edu 37 11 13750163 13750163 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 13750163 13750163 C T SNP FAR1 ENST00000354817 human ensembl 74_37 +1 known missense c.1390 p.R464W 1.000 NULL pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase - no_errors FAR1 HGNC ENSG00000197601 368 0 0 229 55 19.3662 SOX6 0 genome.wustl.edu 37 11 16340017 16340017 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 16340017 16340017 C A SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known missense c.420 p.E140D 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 208 0 0 170 37 17.8744 ABCC8 0 genome.wustl.edu 37 11 17414551 17414551 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 17414551 17414551 C T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.4736 p.R1579H 0.932 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 127 0 0 112 8 6.66667 ABCC8 0 genome.wustl.edu 37 11 17452333 17452333 + RNA SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 17452333 17452333 A G SNP ABCC8 ENST00000528202 human ensembl 74_37 -1 putative rna NULL NULL 0.003 - - - no_errors ABCC8 HGNC ENSG00000006071 284 0 0 222 57 20.4301 ABCC8 0 genome.wustl.edu 37 11 17452571 17452571 + RNA SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 17452571 17452571 C T SNP ABCC8 ENST00000528202 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ABCC8 HGNC ENSG00000006071 17 0 0 17 7 29.1667 TSG101 0 genome.wustl.edu 37 11 18531139 18531139 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 18531139 18531139 C T SNP TSG101 ENST00000251968 human ensembl 74_37 -1 known missense c.431 p.R144H 1.000 superfamily_UBQ-conjugating_enzyme/RWD pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD - no_errors TSG101 HGNC ENSG00000074319 116 1 0.854701 69 17 19.7674 NAV2 0 genome.wustl.edu 37 11 20078096 20078096 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 20078096 20078096 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.4921 p.V1641M 0.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 104 0 0 79 27 25.4717 LGR4 0 genome.wustl.edu 37 11 27390022 27390022 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 27390022 27390022 C T SNP LGR4 ENST00000379214 human ensembl 74_37 -1 known missense c.2248 p.A750T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 361 0 0 227 79 25.817 HIPK3 0 genome.wustl.edu 37 11 33308272 33308272 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 33308272 33308272 G A SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known silent c.312 p.V104 0.559 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK3 HGNC ENSG00000110422 111 0 0 88 24 21.4286 LDLRAD3 0 genome.wustl.edu 37 11 36057669 36057669 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 36057669 36057669 C T SNP LDLRAD3 ENST00000315571 human ensembl 74_37 +1 known silent c.63 p.P21 0.001 superfamily_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLRAD3 HGNC ENSG00000179241 71 0 0 77 6 7.22892 LINC00610 0 genome.wustl.edu 37 11 36293368 36293368 + RNA SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 36293368 36293368 C T SNP LINC00610 ENST00000355500 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00610 HGNC ENSG00000196559 106 0 0 79 16 16.8421 API5 0 genome.wustl.edu 37 11 43364043 43364043 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 43364043 43364043 C T SNP API5 ENST00000531273 human ensembl 74_37 +1 known missense c.1558 p.R520W 1.000 NULL pfam_API5,superfamily_ARM-type_fold - no_errors API5 HGNC ENSG00000166181 104 0 0 70 19 21.3483 HSD17B12 0 genome.wustl.edu 37 11 43876365 43876365 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 43876365 43876365 C A SNP HSD17B12 ENST00000278353 human ensembl 74_37 +1 known missense c.785 p.T262K 0.998 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B12 HGNC ENSG00000149084 176 0 0 110 31 21.9858 ALKBH3 0 genome.wustl.edu 37 11 43918795 43918795 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 43918795 43918795 G A SNP ALKBH3 ENST00000532962 human ensembl 74_37 +1 known missense c.421 p.A141T 0.004 NULL NULL - no_errors ALKBH3 HGNC ENSG00000166199 120 0 0 116 9 7.2 ACCS 0 genome.wustl.edu 37 11 44102795 44102795 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 44102795 44102795 G A SNP ACCS ENST00000263776 human ensembl 74_37 +1 known missense c.1036 p.V346M 0.958 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 82 0 0 80 27 25.2336 PEX16 0 genome.wustl.edu 37 11 45935754 45935754 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 45935754 45935754 A G SNP PEX16 ENST00000241041 human ensembl 74_37 -1 known missense c.695 p.L232S 1.000 pfam_Pex16 pfam_Pex16 - no_errors PEX16 HGNC ENSG00000121680 35 0 0 15 10 40 NR1H3 0 genome.wustl.edu 37 11 47270196 47270196 + RNA SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 47270196 47270196 G T SNP NR1H3 ENST00000495866 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NR1H3 HGNC ENSG00000025434 13 0 0 8 4 33.3333 NR1H3 0 genome.wustl.edu 37 11 47283337 47283337 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 47283337 47283337 G A SNP NR1H3 ENST00000481889 human ensembl 74_37 +1 putative silent c.813 p.G271 0.000 smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H3 HGNC ENSG00000025434 105 0 0 108 34 23.9437 FNBP4 0 genome.wustl.edu 37 11 47746252 47746252 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 47746252 47746252 A C SNP FNBP4 ENST00000263773 human ensembl 74_37 -1 known missense c.2087 p.L696R 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors FNBP4 HGNC ENSG00000109920 71 0 0 60 20 25 FOLH1 0 genome.wustl.edu 37 11 49190753 49190753 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 49190753 49190753 T C SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.1366 p.I456V 0.998 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 110 0 0 100 7 6.54206 RNH1 0 genome.wustl.edu 37 11 498463 498463 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 498463 498463 G A SNP RNH1 ENST00000354420 human ensembl 74_37 -1 known missense c.950 p.S317L 0.006 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 63 0 0 66 18 21.4286 OR51B4 0 genome.wustl.edu 37 11 5322905 5322905 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 5322905 5322905 G A SNP OR51B4 ENST00000380224 human ensembl 74_37 -1 known missense c.272 p.A91V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B4 HGNC ENSG00000183251 124 1 0.8 136 14 9.33333 UBQLN3 0 genome.wustl.edu 37 11 5528897 5528897 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 5528897 5528897 C T SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.1892 p.R631H 0.135 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 98 0 0 77 21 21.4286 UBQLN3 0 genome.wustl.edu 37 11 5529850 5529850 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 5529850 5529850 T C SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known silent c.939 p.S313 0.001 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 154 0 0 136 33 19.5266 OR10AG1 0 genome.wustl.edu 37 11 55735845 55735845 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 55735845 55735845 C T SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known missense c.95 p.C32Y 0.747 pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 166 0 0 139 32 18.7135 OR8H3 0 genome.wustl.edu 37 11 55890069 55890069 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 55890069 55890069 A C SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.221 p.Y74S 0.049 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 OR8H3 HGNC ENSG00000181761 771 2 0.258732 618 103 14.2857 OR5J2 0 genome.wustl.edu 37 11 55944465 55944465 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 55944465 55944465 G T SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known silent c.372 p.V124 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 203 0 0 155 26 14.3646 OR5J2 0 genome.wustl.edu 37 11 55944474 55944474 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 55944474 55944474 G T SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known silent c.381 p.V127 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 203 0 0 173 25 12.6263 P2RX3 0 genome.wustl.edu 37 11 57115716 57115716 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 57115716 57115716 C T SNP P2RX3 ENST00000263314 human ensembl 74_37 +1 known missense c.464 p.T155M 0.323 pfam_P2X_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X3_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX3 HGNC ENSG00000109991 11 0 0 15 3 16.6667 OR10W1 0 genome.wustl.edu 37 11 58035201 58035201 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 58035201 58035201 T C SNP OR10W1 ENST00000395079 human ensembl 74_37 -1 known missense c.130 p.T44A 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10W1 HGNC ENSG00000172772 102 0 0 87 16 15.534 TMEM138 0 genome.wustl.edu 37 11 61131767 61131767 + RNA SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 61131767 61131767 C A SNP TMEM138 ENST00000451389 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM138 HGNC ENSG00000149483 40 0 0 24 6 20 PPP1R32 0 genome.wustl.edu 37 11 61257273 61257273 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 61257273 61257273 A G SNP PPP1R32 ENST00000338608 human ensembl 74_37 +1 known missense c.1063 p.K355E 1.000 NULL NULL - no_errors PPP1R32 HGNC ENSG00000162148 76 0 0 88 8 8.33333 DAGLA 0 genome.wustl.edu 37 11 61504660 61504660 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 61504660 61504660 G A SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.1378 p.G460R 1.000 pfam_Lipase_3 pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 195 0 0 211 12 5.38117 AHNAK 0 genome.wustl.edu 37 11 62287437 62287437 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 62287437 62287437 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.14452 p.V4818I 0.048 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 321 0 0 264 72 21.4286 ROM1 0 genome.wustl.edu 37 11 62381299 62381299 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 62381299 62381299 G T SNP ROM1 ENST00000278833 human ensembl 74_37 +1 known missense c.546 p.W182C 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors ROM1 HGNC ENSG00000149489 77 0 0 51 10 16.3934 LRRN4CL 0 genome.wustl.edu 37 11 62455710 62455710 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 62455710 62455710 C A SNP LRRN4CL ENST00000317449 human ensembl 74_37 -1 known missense c.271 p.V91L 0.219 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC ENSG00000177363 17 0 0 26 8 23.5294 HNRNPUL2 0 genome.wustl.edu 37 11 62483058 62483058 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 62483058 62483058 G A SNP HNRNPUL2 ENST00000301785 human ensembl 74_37 -1 known nonsense c.2077 p.R693* 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL2 HGNC ENSG00000214753 158 0 0 144 8 5.26316 CNGA4 0 genome.wustl.edu 37 11 6260711 6260711 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 6260711 6260711 T G SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.160 p.C54G 0.834 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 231 0 0 219 12 5.19481 SLC22A6 0 genome.wustl.edu 37 11 62744711 62744711 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 62744711 62744711 G A SNP SLC22A6 ENST00000377871 human ensembl 74_37 -1 known silent c.1510 p.L504 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 131 0 0 92 29 23.9669 MARK2 0 genome.wustl.edu 37 11 63666286 63666286 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 63666286 63666286 C T SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known missense c.455 p.A152V 1.000 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 84 0 0 62 16 20.5128 MARK2 0 genome.wustl.edu 37 11 63669730 63669730 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 63669730 63669730 G A SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known missense c.1162 p.A388T 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 104 0 0 64 23 26.4368 MACROD1 0 genome.wustl.edu 37 11 63782731 63782731 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 63782731 63782731 G A SNP MACROD1 ENST00000255681 human ensembl 74_37 -1 known silent c.540 p.G180 0.994 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors MACROD1 HGNC ENSG00000133315 16 0 0 15 5 25 DRD4 0 genome.wustl.edu 37 11 640597 640597 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 640597 640597 C G SNP DRD4 ENST00000176183 human ensembl 74_37 +1 known missense c.1254 p.C418W 0.986 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D4_rcpt,prints_Dopamine_rcpt - no_errors DRD4 HGNC ENSG00000069696 56 0 0 53 21 28.3784 CDC42BPG 0 genome.wustl.edu 37 11 64604405 64604405 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 64604405 64604405 C A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.1292 p.R431M 0.915 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 107 0 0 86 17 16.5049 ATG2A 0 genome.wustl.edu 37 11 64677365 64677365 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 64677365 64677365 G A SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.1895 p.T632M 0.671 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 56 0 0 46 10 17.8571 NAALADL1 0 genome.wustl.edu 37 11 64825848 64825848 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 64825848 64825848 A G SNP NAALADL1 ENST00000358658 human ensembl 74_37 -1 known missense c.146 p.M49T 0.630 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 68 0 0 67 14 17.284 MALAT1 0 genome.wustl.edu 37 11 65272957 65272957 + RNA SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 65272957 65272957 G C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 242 2 0.819672 160 43 21.1823 CD248 0 genome.wustl.edu 37 11 66083272 66083272 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 66083272 66083272 G T SNP CD248 ENST00000311330 human ensembl 74_37 -1 known silent c.1227 p.A409 0.482 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 130 0 0 154 10 6.09756 PELI3 0 genome.wustl.edu 37 11 66238785 66238785 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 66238785 66238785 C T SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known silent c.297 p.H99 0.886 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 160 0 0 128 32 20 CCS 0 genome.wustl.edu 37 11 66373260 66373260 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 66373260 66373260 G T SNP CCS ENST00000533244 human ensembl 74_37 +1 known missense c.759 p.E253D 1.000 superfamily_SOD_Cu_Zn_dom pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,prints_SOD_Cu_Zn_dom,pfscan_HeavyMe-assoc_HMA - no_errors CCS HGNC ENSG00000173992 58 0 0 50 9 15.2542 DCHS1 0 genome.wustl.edu 37 11 6646598 6646598 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 6646598 6646598 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.6977 p.R2326H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 94 0 0 70 25 26.3158 ANKRD13D 0 genome.wustl.edu 37 11 67069033 67069033 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 67069033 67069033 C T SNP ANKRD13D ENST00000511455 human ensembl 74_37 +1 known missense c.1423 p.R475C 1.000 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ENSG00000172932 80 0 0 58 20 25.641 SSH3 0 genome.wustl.edu 37 11 67075730 67075730 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 67075730 67075730 C T SNP SSH3 ENST00000308127 human ensembl 74_37 +1 known missense c.971 p.A324V 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 104 0 0 95 24 20.1681 PITPNM1 0 genome.wustl.edu 37 11 67267200 67267200 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 67267200 67267200 T C SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.1165 p.T389A 0.005 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 71 0 0 49 10 16.9492 ORAOV1 0 genome.wustl.edu 37 11 69488006 69488006 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 69488006 69488006 T C SNP ORAOV1 ENST00000279147 human ensembl 74_37 -1 known missense c.134 p.H45R 0.838 pfam_Essential_protein_Yae1_N pfam_Essential_protein_Yae1_N - no_errors ORAOV1 HGNC ENSG00000149716 140 0 0 91 31 25.4098 CTTN 0 genome.wustl.edu 37 11 70279811 70279811 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 70279811 70279811 C T SNP CTTN ENST00000301843 human ensembl 74_37 +1 known silent c.1503 p.Y501 0.957 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 125 0 0 93 23 19.8276 CTTN 0 genome.wustl.edu 37 11 70282414 70282414 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 70282414 70282414 G A SNP CTTN ENST00000376561 human ensembl 74_37 +1 putative missense c.1805 p.R602Q 0.000 NULL pfam_Hs1_Cortactin,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain - no_errors CTTN HGNC ENSG00000085733 176 0 0 191 31 13.964 SHANK2 0 genome.wustl.edu 37 11 70333142 70333142 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 70333142 70333142 C T SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.3259 p.V1087I 0.997 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 73 0 0 60 14 18.9189 SERPINH1 0 genome.wustl.edu 37 11 75282937 75282937 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 75282937 75282937 G A SNP SERPINH1 ENST00000358171 human ensembl 74_37 +1 known missense c.1066 p.A356T 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 64 0 0 34 6 15 MAP6 0 genome.wustl.edu 37 11 75298694 75298694 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 75298694 75298694 C A SNP MAP6 ENST00000304771 human ensembl 74_37 -1 known missense c.1852 p.G618C 0.013 NULL pfam_MAP6/FAM154 - no_errors MAP6 HGNC ENSG00000171533 332 0 0 240 68 22.0779 INTS4 0 genome.wustl.edu 37 11 77649864 77649864 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 77649864 77649864 C T SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known missense c.998 p.R333H 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 218 0 0 168 29 14.7208 TENM4 0 genome.wustl.edu 37 11 78440583 78440583 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 78440583 78440583 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.3244 p.P1082S 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 62 0 0 51 5 8.92857 SYTL2 0 genome.wustl.edu 37 11 85437589 85437589 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 85437589 85437589 C T SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.1483 p.G495R 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 75 0 0 53 16 23.1884 ST5 0 genome.wustl.edu 37 11 8739392 8739392 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 8739392 8739392 G A SNP ST5 ENST00000313726 human ensembl 74_37 -1 known nonsense c.1525 p.R509* 0.989 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 112 0 0 84 10 10.6383 RAB38 0 genome.wustl.edu 37 11 87883091 87883091 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 87883091 87883091 A G SNP RAB38 ENST00000243662 human ensembl 74_37 -1 known missense c.235 p.Y79H 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB38 HGNC ENSG00000123892 495 0 0 337 94 21.8097 CTSC 0 genome.wustl.edu 37 11 88027300 88027300 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 88027300 88027300 G A SNP CTSC ENST00000227266 human ensembl 74_37 -1 known silent c.1266 p.Y422 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSC HGNC ENSG00000109861 119 0 0 113 10 8.13008 FOLH1B 0 genome.wustl.edu 37 11 89392677 89392677 + RNA SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 89392677 89392677 T C SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FOLH1B HGNC ENSG00000134612 63 0 0 27 11 28.9474 DENND5A 0 genome.wustl.edu 37 11 9202415 9202415 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 9202415 9202415 T C SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known missense c.1354 p.I452V 1.000 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 255 0 0 221 39 15 FAT3 0 genome.wustl.edu 37 11 92532253 92532253 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 92532253 92532253 A C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.6074 p.K2025T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 143 0 0 129 22 14.5695 FAT3 0 genome.wustl.edu 37 11 92577560 92577560 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 92577560 92577560 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.11027 p.A3676V 0.995 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 66 0 0 60 13 17.8082 MRE11A 0 genome.wustl.edu 37 11 94180539 94180539 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 94180539 94180539 A G SNP MRE11A ENST00000323929 human ensembl 74_37 -1 known silent c.1629 p.D543 0.807 pirsf_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 194 0 0 161 33 17.0103 ARL1 0 genome.wustl.edu 37 12 101790156 101790156 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 101790156 101790156 T A SNP ARL1 ENST00000551671 human ensembl 74_37 -1 putative missense c.536 p.K179M 0.001 superfamily_P-loop_NTPase,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL1 HGNC ENSG00000120805 253 0 0 222 60 21.2766 CLEC1A 0 genome.wustl.edu 37 12 10225945 10225945 + Silent SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 10225945 10225945 A C SNP CLEC1A ENST00000315330 human ensembl 74_37 -1 known silent c.609 p.P203 0.012 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC1A HGNC ENSG00000150048 133 0 0 117 9 7.14286 IGF1 0 genome.wustl.edu 37 12 102813396 102813396 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 102813396 102813396 C T SNP IGF1 ENST00000307046 human ensembl 74_37 -1 known missense c.293 p.R98Q 1.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family,prints_Insulin-like_growth_factor pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF-I,prints_Insulin_family,prints_Insulin-like_growth_factor - no_errors IGF1 HGNC ENSG00000017427 59 0 0 45 17 27.4194 KIAA1033 0 genome.wustl.edu 37 12 105540906 105540906 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 105540906 105540906 G A SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known silent c.2496 p.T832 0.269 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 131 0 0 101 30 22.9008 RFX4 0 genome.wustl.edu 37 12 107080862 107080862 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 107080862 107080862 T A SNP RFX4 ENST00000357881 human ensembl 74_37 +1 known missense c.605 p.L202Q 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 138 0 0 125 7 5.30303 ASCL4 0 genome.wustl.edu 37 12 108169016 108169016 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 108169016 108169016 G A SNP ASCL4 ENST00000342331 human ensembl 74_37 +1 known silent c.24 p.A8 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL4 HGNC ENSG00000187855 162 0 0 148 12 7.5 SELPLG 0 genome.wustl.edu 37 12 109017999 109017999 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 109017999 109017999 C T SNP SELPLG ENST00000550948 human ensembl 74_37 -1 known missense c.85 p.E29K 0.000 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 129 0 0 98 20 16.9492 UBE3B 0 genome.wustl.edu 37 12 109972426 109972426 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 109972426 109972426 C T SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.3046 p.R1016W 0.958 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 53 0 0 42 19 31.1475 TAS2R30 0 genome.wustl.edu 37 12 11286356 11286356 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 11286356 11286356 G C SNP TAS2R30 ENST00000539585 human ensembl 74_37 -1 known missense c.488 p.T163S 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R30 HGNC ENSG00000256188 330 0 0 224 51 18.5455 RSRC2 0 genome.wustl.edu 37 12 122992836 122992836 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 122992836 122992836 C T SNP RSRC2 ENST00000331738 human ensembl 74_37 -1 known missense c.964 p.A322T 1.000 NULL NULL - no_errors RSRC2 HGNC ENSG00000111011 185 1 0.537634 118 28 19.1781 DUSP16 0 genome.wustl.edu 37 12 12629784 12629784 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 12629784 12629784 T G SNP DUSP16 ENST00000228862 human ensembl 74_37 -1 known missense c.1981 p.I661L 0.321 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 233 0 0 188 56 22.9508 P2RX2 0 genome.wustl.edu 37 12 133197083 133197083 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 133197083 133197083 G A SNP P2RX2 ENST00000343948 human ensembl 74_37 +1 known missense c.688 p.E230K 0.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 88 0 0 82 15 15.4639 POLE 0 genome.wustl.edu 37 12 133256104 133256104 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 133256104 133256104 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.557 p.A186V 0.022 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 224 0 0 227 12 5.02092 ANKLE2 0 genome.wustl.edu 37 12 133319798 133319798 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 133319798 133319798 G A SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known missense c.1295 p.S432L 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 110 0 0 82 19 18.8119 GOLGA3 0 genome.wustl.edu 37 12 133374948 133374948 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 133374948 133374948 G A SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.1916 p.A639V 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 167 0 0 144 36 20 PLBD1 0 genome.wustl.edu 37 12 14706188 14706188 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 14706188 14706188 T G SNP PLBD1 ENST00000240617 human ensembl 74_37 -1 known missense c.274 p.T92P 0.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 113 0 0 97 6 5.82524 GUCY2C 0 genome.wustl.edu 37 12 14781623 14781623 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 14781623 14781623 G A SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known missense c.2206 p.P736S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 189 0 0 136 38 21.8391 WNT5B 0 genome.wustl.edu 37 12 1748923 1748923 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 1748923 1748923 C T SNP WNT5B ENST00000310594 human ensembl 74_37 +1 known silent c.402 p.R134 0.966 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC ENSG00000111186 15 0 0 23 7 23.3333 CACNA2D4 0 genome.wustl.edu 37 12 1983828 1983828 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 1983828 1983828 A G SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known missense c.1820 p.M607T 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 80 0 0 69 12 14.8148 C2CD5 0 genome.wustl.edu 37 12 22624384 22624384 + Nonsense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 22624384 22624384 G T SNP C2CD5 ENST00000333957 human ensembl 74_37 -1 known nonsense c.2307 p.C769* 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors C2CD5 HGNC ENSG00000111731 145 0 0 112 14 11.1111 ITPR2 0 genome.wustl.edu 37 12 26572039 26572039 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 26572039 26572039 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known silent c.7053 p.A2351 0.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 83 0 0 59 14 19.1781 KLHL42 0 genome.wustl.edu 37 12 27950767 27950767 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 27950767 27950767 G A SNP KLHL42 ENST00000381271 human ensembl 74_37 +1 known missense c.1186 p.V396M 1.000 NULL pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL42 HGNC ENSG00000087448 275 0 0 193 55 22.1774 PTHLH 0 genome.wustl.edu 37 12 28122392 28122392 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 28122392 28122392 C T SNP PTHLH ENST00000354417 human ensembl 74_37 -1 known silent c.36 p.A12 0.980 pfam_PTH/PTH-rel pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 11 0 0 6 6 50 LRRK2 0 genome.wustl.edu 37 12 40717061 40717061 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 40717061 40717061 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.5609 p.L1870S 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 152 0 0 102 23 18.4 NELL2 0 genome.wustl.edu 37 12 45269072 45269072 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 45269072 45269072 C T SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known silent c.270 p.E90 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 57 0 0 42 11 20.7547 SENP1 0 genome.wustl.edu 37 12 48477525 48477525 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 48477525 48477525 G A SNP SENP1 ENST00000004980 human ensembl 74_37 -1 known missense c.401 p.A134V 0.001 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 169 0 0 106 22 17.1875 KMT2D 0 genome.wustl.edu 37 12 49445038 49445038 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 49445038 49445038 T C SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.2428 p.T810A 0.002 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 96 0 0 54 9 14.2857 KCNH3 0 genome.wustl.edu 37 12 49948198 49948198 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 49948198 49948198 C T SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.1997 p.T666M 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 124 0 0 120 25 17.2414 KCNA1 0 genome.wustl.edu 37 12 5021148 5021148 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 5021148 5021148 G A SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.604 p.V202I 0.001 prints_K_chnl_volt-dep_Kv1.1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 78 0 0 66 29 30.5263 BCDIN3D-AS1 0 genome.wustl.edu 37 12 50232905 50232905 + RNA SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 50232905 50232905 G T SNP BCDIN3D-AS1 ENST00000548872 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors BCDIN3D-AS1 HGNC ENSG00000258057 23 0 0 21 4 16 AQP6 0 genome.wustl.edu 37 12 50369275 50369275 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 50369275 50369275 G A SNP AQP6 ENST00000315520 human ensembl 74_37 +1 known missense c.670 p.A224T 0.973 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_6,tigrfam_MIP - no_errors AQP6 HGNC ENSG00000086159 242 0 0 260 65 20 DIP2B 0 genome.wustl.edu 37 12 51054033 51054033 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 51054033 51054033 G A SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.358 p.A120T 1.000 pfam_DMAP1-bd pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 235 0 0 170 52 23.4234 KRT73 0 genome.wustl.edu 37 12 53009982 53009982 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 53009982 53009982 G A SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known silent c.630 p.S210 0.239 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 185 0 0 178 15 7.77202 KRT3 0 genome.wustl.edu 37 12 53189265 53189265 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 53189265 53189265 C T SNP KRT3 ENST00000309505 human ensembl 74_37 -1 known missense c.562 p.D188N 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 113 0 0 73 14 16.092 TENC1 0 genome.wustl.edu 37 12 53448186 53448186 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 53448186 53448186 G A SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known silent c.513 p.L171 1.000 pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 37 0 0 36 8 18.1818 IGFBP6 0 genome.wustl.edu 37 12 53496097 53496097 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 53496097 53496097 G A SNP IGFBP6 ENST00000549628 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors IGFBP6 HGNC ENSG00000167779 8 0 0 3 4 57.1429 ITGB7 0 genome.wustl.edu 37 12 53586138 53586138 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 53586138 53586138 C T SNP ITGB7 ENST00000267082 human ensembl 74_37 -1 known missense c.2131 p.V711M 0.000 pirsf_Integrin_bsu,superfamily_Integrin_bsu_tail pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 131 0 0 110 21 16.0305 ESPL1 0 genome.wustl.edu 37 12 53679949 53679949 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 53679949 53679949 A G SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known silent c.3429 p.S1143 0.000 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 204 2 0.970874 161 32 16.5803 AMHR2 0 genome.wustl.edu 37 12 53818998 53818998 + Silent SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 53818998 53818998 C G SNP AMHR2 ENST00000257863 human ensembl 74_37 +1 known silent c.474 p.L158 0.063 pirsf_Anti-muellerian_hrmn_rcpt_II pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AMHR2 HGNC ENSG00000135409 170 0 0 130 26 16.6667 HOXC13 0 genome.wustl.edu 37 12 54338951 54338951 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 54338951 54338951 C T SNP HOXC13 ENST00000243056 human ensembl 74_37 +1 known missense c.904 p.R302C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXC13 HGNC ENSG00000123364 81 0 0 81 17 17.3469 HOXC10 0 genome.wustl.edu 37 12 54379398 54379398 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 54379398 54379398 C T SNP HOXC10 ENST00000303460 human ensembl 74_37 +1 known missense c.355 p.R119W 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC10 HGNC ENSG00000180818 56 0 0 75 14 15.7303 HOXC5 0 genome.wustl.edu 37 12 54427288 54427288 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 54427288 54427288 C T SNP HOXC5 ENST00000312492 human ensembl 74_37 +1 known missense c.382 p.P128S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC5 HGNC ENSG00000172789 19 0 0 3 5 62.5 HOXC5 0 genome.wustl.edu 37 12 54428259 54428259 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 54428259 54428259 A G SNP HOXC5 ENST00000312492 human ensembl 74_37 +1 known missense c.652 p.S218G 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC5 HGNC ENSG00000172789 58 0 0 43 15 25.8621 SMUG1 0 genome.wustl.edu 37 12 54576034 54576034 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 54576034 54576034 C T SNP SMUG1 ENST00000337581 human ensembl 74_37 -1 known missense c.659 p.R220Q 1.000 pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like - no_errors SMUG1 HGNC ENSG00000123415 93 0 0 54 18 25 SLC39A5 0 genome.wustl.edu 37 12 56629008 56629008 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 56629008 56629008 G A SNP SLC39A5 ENST00000266980 human ensembl 74_37 +1 known silent c.702 p.L234 0.989 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 259 0 0 291 21 6.73077 ANKRD52 0 genome.wustl.edu 37 12 56639302 56639302 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 56639302 56639302 G A SNP ANKRD52 ENST00000267116 human ensembl 74_37 -1 known missense c.2263 p.R755C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 62 0 0 58 17 22.6667 APOF 0 genome.wustl.edu 37 12 56755073 56755073 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 56755073 56755073 T C SNP APOF ENST00000398189 human ensembl 74_37 -1 known missense c.917 p.Y306C 0.000 NULL NULL - no_errors APOF HGNC ENSG00000175336 164 1 0.606061 91 29 24.1667 NACA 0 genome.wustl.edu 37 12 57111304 57111304 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 57111304 57111304 G A SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.4010 p.A1337V 0.040 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 57 0 0 53 7 11.6667 NACA 0 genome.wustl.edu 37 12 57111308 57111308 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 57111308 57111308 G C SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.4006 p.P1336A 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 62 0 0 54 5 8.47458 ANO2 0 genome.wustl.edu 37 12 5721879 5721879 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 5721879 5721879 C T SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known missense c.2033 p.S678N 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 68 0 0 50 10 16.6667 LRP1 0 genome.wustl.edu 37 12 57567028 57567028 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 57567028 57567028 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.3241 p.R1081C 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 73 0 0 50 11 18.0328 VWF 0 genome.wustl.edu 37 12 6092336 6092336 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 6092336 6092336 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.7061 p.C2354Y 1.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 36 0 0 20 4 16.6667 FAM19A2 0 genome.wustl.edu 37 12 62104161 62104161 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 62104161 62104161 T G SNP FAM19A2 ENST00000551449 human ensembl 74_37 -1 putative missense c.144 p.Q48H 1.000 NULL NULL - no_errors FAM19A2 HGNC ENSG00000198673 324 0 0 205 44 17.6707 DPY19L2 0 genome.wustl.edu 37 12 63976277 63976277 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 63976277 63976277 A G SNP DPY19L2 ENST00000324472 human ensembl 74_37 -1 known missense c.1634 p.V545A 0.719 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 60 0 0 53 6 10.1695 DPY19L2 0 genome.wustl.edu 37 12 64061905 64061905 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 64061905 64061905 G A SNP DPY19L2 ENST00000324472 human ensembl 74_37 -1 known missense c.269 p.A90V 0.137 NULL pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 178 0 0 131 35 21.0843 GRIP1 0 genome.wustl.edu 37 12 66990656 66990656 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 66990656 66990656 G A SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.107 p.A36V 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 104 0 0 90 28 23.7288 CAND1 0 genome.wustl.edu 37 12 67706561 67706561 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 67706561 67706561 T C SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.3644 p.I1215T 1.000 NULL pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 147 0 0 121 30 19.8675 PIANP 0 genome.wustl.edu 37 12 6806618 6806618 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 6806618 6806618 G A SNP PIANP ENST00000320591 human ensembl 74_37 -1 known missense c.358 p.P120S 1.000 NULL NULL - no_errors PIANP HGNC ENSG00000139200 53 0 0 49 15 23.4375 YEATS4 0 genome.wustl.edu 37 12 69753804 69753804 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 69753804 69753804 G A SNP YEATS4 ENST00000247843 human ensembl 74_37 +1 known splice_site c.51+1 e1+1 1.000 - - - no_errors YEATS4 HGNC ENSG00000127337 25 0 0 26 6 18.75 TRHDE 0 genome.wustl.edu 37 12 73050744 73050744 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 73050744 73050744 A G SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.2887 p.S963G 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 244 0 0 156 40 20.4082 GDF3 0 genome.wustl.edu 37 12 7842986 7842986 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 7842986 7842986 G A SNP GDF3 ENST00000329913 human ensembl 74_37 -1 known missense c.583 p.R195W 0.036 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF3 HGNC ENSG00000184344 142 0 0 135 8 5.59441 NAV3 0 genome.wustl.edu 37 12 78569092 78569092 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 78569092 78569092 G A SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.4988 p.R1663H 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 106 0 0 94 21 18.2609 NR2C1 0 genome.wustl.edu 37 12 95443007 95443007 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 95443007 95443007 G A SNP NR2C1 ENST00000333003 human ensembl 74_37 -1 known missense c.968 p.A323V 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC ENSG00000120798 176 0 0 125 37 22.8395 FGD6 0 genome.wustl.edu 37 12 95604038 95604038 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 95604038 95604038 G A SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.1022 p.P341L 0.075 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 285 0 0 210 52 19.8473 AMDHD1 0 genome.wustl.edu 37 12 96350720 96350720 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 96350720 96350720 C T SNP AMDHD1 ENST00000266736 human ensembl 74_37 +1 known silent c.567 p.C189 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI - no_errors AMDHD1 HGNC ENSG00000139344 189 0 0 172 34 16.5049 ELK3 0 genome.wustl.edu 37 12 96641215 96641215 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 96641215 96641215 C T SNP ELK3 ENST00000228741 human ensembl 74_37 +1 known silent c.705 p.S235 0.002 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK3 HGNC ENSG00000111145 223 0 0 174 47 21.267 TMTC4 0 genome.wustl.edu 37 13 101277913 101277913 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 101277913 101277913 G A SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known missense c.1712 p.A571V 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 76 0 0 66 6 8.33333 F10 0 genome.wustl.edu 37 13 113803259 113803259 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 113803259 113803259 G A SNP F10 ENST00000375559 human ensembl 74_37 +1 known missense c.895 p.G299S 0.000 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F10 HGNC ENSG00000126218 204 0 0 171 53 23.6607 PCID2 0 genome.wustl.edu 37 13 113833353 113833353 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 113833353 113833353 G A SNP PCID2 ENST00000246505 human ensembl 74_37 -1 known missense c.1199 p.A400V 1.000 pfam_PCI_dom pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 105 0 0 83 25 23.1481 PCID2 0 genome.wustl.edu 37 13 113851338 113851338 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 113851338 113851338 T C SNP PCID2 ENST00000246505 human ensembl 74_37 -1 known silent c.420 p.S140 0.000 NULL pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 179 1 0.555556 136 34 20 IFT88 0 genome.wustl.edu 37 13 21264849 21264849 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 21264849 21264849 G A SNP IFT88 ENST00000319980 human ensembl 74_37 +1 known missense c.2275 p.G759S 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFT88 HGNC ENSG00000032742 150 0 0 141 34 19.4286 ZDHHC20 0 genome.wustl.edu 37 13 21995217 21995217 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 21995217 21995217 C T SNP ZDHHC20 ENST00000400590 human ensembl 74_37 -1 known missense c.232 p.A78T 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC20 HGNC ENSG00000180776 73 0 0 37 19 33.9286 PARP4 0 genome.wustl.edu 37 13 25009229 25009229 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 25009229 25009229 G A SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known silent c.4050 p.F1350 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 103 0 0 97 30 23.622 ATP8A2 0 genome.wustl.edu 37 13 26273359 26273359 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 26273359 26273359 C T SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known silent c.2260 p.L754 0.030 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 137 0 0 115 24 17.2662 WASF3 0 genome.wustl.edu 37 13 27255288 27255288 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 27255288 27255288 G A SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known missense c.814 p.V272M 0.209 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 145 0 0 120 34 22.0779 FLT1 0 genome.wustl.edu 37 13 28908179 28908179 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 28908179 28908179 G A SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.2576 p.A859V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 308 2 0.645161 246 55 18.2724 FRY 0 genome.wustl.edu 37 13 32705925 32705925 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 32705925 32705925 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.833 p.R278Q 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 184 0 0 146 38 20.6522 BRCA2 0 genome.wustl.edu 37 13 32914985 32914985 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 32914985 32914985 T C SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known silent c.6493 p.L2165 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 102 0 0 74 19 20.4301 DCLK1 0 genome.wustl.edu 37 13 36396959 36396959 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 36396959 36396959 G A SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known silent c.1461 p.D487 0.961 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 pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 173 0 0 108 23 17.5573 NAA16 0 genome.wustl.edu 37 13 41894849 41894849 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 41894849 41894849 T C SNP NAA16 ENST00000379406 human ensembl 74_37 +1 known silent c.291 p.D97 1.000 pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 155 0 0 107 28 20.7407 AKAP11 0 genome.wustl.edu 37 13 42873557 42873557 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 42873557 42873557 T C SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known silent c.675 p.G225 0.993 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 126 0 0 111 13 10.4839 ENOX1 0 genome.wustl.edu 37 13 43930086 43930086 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 43930086 43930086 G A SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known silent c.792 p.H264 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 221 1 0.45045 208 14 6.30631 CPB2 0 genome.wustl.edu 37 13 46661878 46661878 + Splice_Site SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 46661878 46661878 A G SNP CPB2 ENST00000181383 human ensembl 74_37 -1 known splice_site c.150+2 e2+2 1.000 - - - no_errors CPB2 HGNC ENSG00000080618 94 0 0 69 17 19.7674 FAM124A 0 genome.wustl.edu 37 13 51854975 51854975 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 51854975 51854975 G T SNP FAM124A ENST00000280057 human ensembl 74_37 +1 known silent c.1332 p.G444 1.000 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 102 0 0 84 15 15.1515 THSD1 0 genome.wustl.edu 37 13 52960165 52960165 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 52960165 52960165 G A SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1178 p.A393V 0.465 smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 63 0 0 62 21 25.3012 PCDH9 0 genome.wustl.edu 37 13 67801400 67801400 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 67801400 67801400 C A SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.1173 p.K391N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 287 0 0 220 66 23.0769 SCEL 0 genome.wustl.edu 37 13 78176201 78176201 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 78176201 78176201 A G SNP SCEL ENST00000349847 human ensembl 74_37 +1 known missense c.919 p.I307V 0.965 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 125 0 0 83 8 8.79121 SLAIN1 0 genome.wustl.edu 37 13 78318470 78318470 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 78318470 78318470 G A SNP SLAIN1 ENST00000466548 human ensembl 74_37 +1 known silent c.753 p.E251 0.999 NULL NULL - no_errors SLAIN1 HGNC ENSG00000139737 123 0 0 106 9 7.82609 SLITRK5 0 genome.wustl.edu 37 13 88329581 88329581 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 88329581 88329581 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1938 p.T646 0.933 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 65 0 0 81 7 7.95455 GPC5 0 genome.wustl.edu 37 13 92345891 92345891 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 92345891 92345891 C A SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.776 p.P259Q 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 96 0 0 88 17 16.1905 ABCC4 0 genome.wustl.edu 37 13 95714990 95714990 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 95714990 95714990 C T SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.3334 p.D1112N 0.999 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 285 0 0 266 14 5 UGGT2 0 genome.wustl.edu 37 13 96529620 96529620 + Splice_Site SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 96529620 96529620 T C SNP UGGT2 ENST00000376747 human ensembl 74_37 -1 known splice_site c.3388-2 e29-2 1.000 - - - no_errors UGGT2 HGNC ENSG00000102595 153 0 0 99 23 18.8525 DOCK9 0 genome.wustl.edu 37 13 99515326 99515326 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 99515326 99515326 C T SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.3529 p.V1177I 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 21 0 0 27 3 10 XRCC3 0 genome.wustl.edu 37 14 104165790 104165790 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 104165790 104165790 C T SNP XRCC3 ENST00000352127 human ensembl 74_37 -1 known missense c.685 p.A229T 0.000 pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC3 HGNC ENSG00000126215 56 0 0 55 6 9.83607 AHNAK2 0 genome.wustl.edu 37 14 105414613 105414613 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 105414613 105414613 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.7175 p.P2392L 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 199 0 0 193 46 19.2469 BTBD6 0 genome.wustl.edu 37 14 105716569 105716569 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 105716569 105716569 C T SNP BTBD6 ENST00000392554 human ensembl 74_37 +1 known nonsense c.1018 p.R340* 1.000 pfam_PHR pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD6 HGNC ENSG00000184887 86 0 0 82 8 8.88889 OR11H12 0 genome.wustl.edu 37 14 19378140 19378140 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 19378140 19378140 T G SNP OR11H12 ENST00000550708 human ensembl 74_37 +1 known missense c.547 p.F183V 0.108 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 118 0 0 84 17 16.8317 POTEG 0 genome.wustl.edu 37 14 19553784 19553784 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 19553784 19553784 A G SNP POTEG ENST00000409832 human ensembl 74_37 +1 known missense c.368 p.Y123C 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 522 0 0 516 46 8.18505 ENSG00000244306 0 genome.wustl.edu 37 14 19856951 19856951 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 19856951 19856951 G A SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 87 0 0 54 9 14.2857 PARP2 0 genome.wustl.edu 37 14 20813247 20813247 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 20813247 20813247 G A SNP PARP2 ENST00000429687 human ensembl 74_37 +1 known splice_site c.202+1 e2+1 0.003 - - - no_errors PARP2 HGNC ENSG00000129484 75 0 0 50 9 15.2542 TMEM55B 0 genome.wustl.edu 37 14 20928395 20928395 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 20928395 20928395 G T SNP TMEM55B ENST00000398020 human ensembl 74_37 -1 known silent c.417 p.I139 1.000 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55B HGNC ENSG00000165782 102 0 0 82 16 16.3265 CHD8 0 genome.wustl.edu 37 14 21871355 21871355 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 21871355 21871355 T C SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.3535 p.I1179V 0.998 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_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 79 0 0 66 15 18.5185 ACIN1 0 genome.wustl.edu 37 14 23549510 23549510 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 23549510 23549510 G A SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known missense c.1208 p.A403V 0.014 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 138 1 0.719424 89 29 24.5763 MYH7 0 genome.wustl.edu 37 14 23901953 23901953 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 23901953 23901953 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.397 p.V133M 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom 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 - no_errors MYH7 HGNC ENSG00000092054 49 0 0 49 9 15.5172 CPNE6 0 genome.wustl.edu 37 14 24546935 24546935 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 24546935 24546935 C T SNP CPNE6 ENST00000537691 human ensembl 74_37 +1 known missense c.1835 p.P612L 0.976 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 43 0 0 50 13 20.6349 PSME2 0 genome.wustl.edu 37 14 24613431 24613431 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 24613431 24613431 T C SNP PSME2 ENST00000216802 human ensembl 74_37 -1 known missense c.467 p.K156R 1.000 pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28 pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28 - no_errors PSME2 HGNC ENSG00000100911 271 0 0 232 42 15.3285 FOXG1 0 genome.wustl.edu 37 14 29237480 29237480 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 29237480 29237480 C T SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.995 p.S332L 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 144 0 0 97 22 18.4874 MBIP 0 genome.wustl.edu 37 14 36780790 36780790 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 36780790 36780790 C T SNP MBIP ENST00000416007 human ensembl 74_37 -1 known missense c.779 p.R260Q 1.000 NULL NULL - no_errors MBIP HGNC ENSG00000151332 101 0 0 114 15 11.6279 PAX9 0 genome.wustl.edu 37 14 37132270 37132270 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 37132270 37132270 C T SNP PAX9 ENST00000361487 human ensembl 74_37 +1 known missense c.173 p.A58V 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 73 0 0 61 11 15.2778 SEC23A 0 genome.wustl.edu 37 14 39532546 39532546 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 39532546 39532546 A G SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known silent c.1380 p.Y460 1.000 pfam_Sec23_24_beta_S pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 105 0 0 50 21 29.5775 SEC23A 0 genome.wustl.edu 37 14 39565194 39565194 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 39565194 39565194 T C SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known silent c.129 p.T43 0.885 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 169 0 0 124 33 21.0191 CDKL1 0 genome.wustl.edu 37 14 50863894 50863894 + RNA SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 50863894 50863894 T C SNP CDKL1 ENST00000356146 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CDKL1 HGNC ENSG00000100490 43 0 0 34 14 29.1667 FRMD6 0 genome.wustl.edu 37 14 52186842 52186842 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 52186842 52186842 G T SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known missense c.1094 p.R365L 1.000 NULL pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 65 0 0 64 22 25.5814 BMP4 0 genome.wustl.edu 37 14 54418806 54418806 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 54418806 54418806 G T SNP BMP4 ENST00000245451 human ensembl 74_37 -1 known silent c.135 p.R45 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC ENSG00000125378 107 0 0 89 27 23.2759 EXOC5 0 genome.wustl.edu 37 14 57698340 57698340 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 57698340 57698340 G T SNP EXOC5 ENST00000413566 human ensembl 74_37 -1 known silent c.1032 p.S344 1.000 pfam_Sec10-like pfam_Sec10-like - no_errors EXOC5 HGNC ENSG00000070367 141 0 0 101 14 12.1739 SRSF5 0 genome.wustl.edu 37 14 70235592 70235592 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 70235592 70235592 G A SNP SRSF5 ENST00000451983 human ensembl 74_37 +1 known missense c.275 p.R92H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ENSG00000100650 151 0 0 113 23 16.9118 ADAM21 0 genome.wustl.edu 37 14 70925078 70925078 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 70925078 70925078 T C SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.862 p.S288P 0.941 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 272 0 0 271 18 6.22837 RGS6 0 genome.wustl.edu 37 14 73029147 73029147 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 73029147 73029147 G A SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.1445 p.R482H 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 61 0 0 55 10 15.3846 C14orf169 0 genome.wustl.edu 37 14 73959137 73959137 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 73959137 73959137 G A SNP C14orf169 ENST00000531973 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors C14orf169 HGNC ENSG00000255242 53 0 0 45 10 18.1818 LTBP2 0 genome.wustl.edu 37 14 74969608 74969608 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 74969608 74969608 G A SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known missense c.4918 p.R1640C 1.000 superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 74 0 0 78 15 16.129 ANGEL1 0 genome.wustl.edu 37 14 77257053 77257053 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 77257053 77257053 G A SNP ANGEL1 ENST00000251089 human ensembl 74_37 -1 known missense c.1753 p.R585C 0.999 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL1 HGNC ENSG00000013523 103 0 0 66 16 19.5122 ADCK1 0 genome.wustl.edu 37 14 78397874 78397874 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 78397874 78397874 G A SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known missense c.1220 p.R407H 0.999 NULL pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 66 0 0 65 28 30.1075 NRXN3 0 genome.wustl.edu 37 14 78710088 78710088 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 78710088 78710088 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.652 p.G218S 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 93 0 0 75 14 15.7303 CEP128 0 genome.wustl.edu 37 14 81366324 81366324 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 81366324 81366324 C T SNP CEP128 ENST00000281129 human ensembl 74_37 -1 known missense c.530 p.R177H 1.000 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 155 1 0.641026 108 26 19.403 RIN3 0 genome.wustl.edu 37 14 93125676 93125676 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 93125676 93125676 G A SNP RIN3 ENST00000216487 human ensembl 74_37 +1 known missense c.2197 p.V733M 1.000 pfscan_VPS9 pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 210 0 0 153 45 22.7273 UNC79 0 genome.wustl.edu 37 14 94158100 94158100 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 94158100 94158100 C T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.7461 p.S2487 0.692 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 133 0 0 107 25 18.9394 SERPINA6 0 genome.wustl.edu 37 14 94776106 94776106 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 94776106 94776106 G A SNP SERPINA6 ENST00000341584 human ensembl 74_37 -1 known missense c.851 p.T284M 0.731 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA6 HGNC ENSG00000170099 143 0 0 126 37 22.6994 SYNE3 0 genome.wustl.edu 37 14 95921913 95921913 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 95921913 95921913 C T SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.938 p.R313H 0.346 smart_Spectrin/alpha-actinin pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 180 0 0 176 36 16.9811 SYNE3 0 genome.wustl.edu 37 14 95923557 95923557 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 95923557 95923557 C T SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.746 p.R249Q 0.000 smart_Spectrin/alpha-actinin pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 179 0 0 168 18 9.67742 GSKIP 0 genome.wustl.edu 37 14 96851949 96851949 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 96851949 96851949 C T SNP GSKIP ENST00000438650 human ensembl 74_37 +1 known silent c.348 p.P116 0.956 pfam_DUF727,superfamily_GSKIP_dom pfam_DUF727,superfamily_GSKIP_dom - no_errors GSKIP HGNC ENSG00000100744 299 0 0 195 39 16.6667 PAPOLA 0 genome.wustl.edu 37 14 96986463 96986463 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 96986463 96986463 G A SNP PAPOLA ENST00000216277 human ensembl 74_37 +1 known missense c.80 p.S27N 1.000 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLA HGNC ENSG00000090060 223 0 0 204 12 5.55556 CCNK 0 genome.wustl.edu 37 14 99969288 99969288 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 99969288 99969288 G T SNP CCNK ENST00000389879 human ensembl 74_37 +1 known missense c.978 p.Q326H 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNK HGNC ENSG00000090061 86 0 0 74 19 20.4301 NIPA1 0 genome.wustl.edu 37 15 23048857 23048857 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 23048857 23048857 A G SNP NIPA1 ENST00000337435 human ensembl 74_37 -1 known missense c.962 p.M321T 1.000 NULL pfam_Mg_trans_NIPA - no_errors NIPA1 HGNC ENSG00000170113 139 0 0 114 38 25 NIPA1 0 genome.wustl.edu 37 15 23048996 23048996 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 23048996 23048996 C T SNP NIPA1 ENST00000337435 human ensembl 74_37 -1 known missense c.823 p.A275T 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPA1 HGNC ENSG00000170113 67 0 0 56 6 9.67742 NIPA1 0 genome.wustl.edu 37 15 23049218 23049218 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 23049218 23049218 A C SNP NIPA1 ENST00000337435 human ensembl 74_37 -1 known missense c.601 p.F201V 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPA1 HGNC ENSG00000170113 73 0 0 70 9 11.3924 NDN 0 genome.wustl.edu 37 15 23932081 23932081 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 23932081 23932081 G A SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.284 p.P95L 0.944 NULL pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 65 0 0 63 20 24.0964 SNHG14 0 genome.wustl.edu 37 15 25456782 25456782 + RNA SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 25456782 25456782 A G SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SNHG14 HGNC ENSG00000224078 27 0 0 37 7 15.9091 ATP10A 0 genome.wustl.edu 37 15 25953381 25953381 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 25953381 25953381 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.2411 p.A804V 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 193 0 0 162 31 16.0622 GABRG3 0 genome.wustl.edu 37 15 27777969 27777969 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 27777969 27777969 T C SNP GABRG3 ENST00000333743 human ensembl 74_37 +1 known missense c.1346 p.F449S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 78 0 0 62 4 6.06061 OCA2 0 genome.wustl.edu 37 15 28090167 28090167 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 28090167 28090167 G A SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known silent c.2370 p.N790 0.989 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 75 0 0 65 12 15.5844 GOLGA8F 0 genome.wustl.edu 37 15 28632791 28632791 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 28632791 28632791 T C SNP GOLGA8F ENST00000526619 human ensembl 74_37 +1 known silent c.717 p.P239 0.044 NULL NULL - no_errors GOLGA8F HGNC ENSG00000153684 67 0 0 64 6 8.57143 APBA2 0 genome.wustl.edu 37 15 29346438 29346438 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 29346438 29346438 C T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known silent c.351 p.N117 0.991 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 153 0 0 134 40 22.9885 RYR3 0 genome.wustl.edu 37 15 33873743 33873743 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 33873743 33873743 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.1472 p.R491H 1.000 pfam_Ca-rel_channel pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 226 0 0 173 43 19.9074 EIF2AK4 0 genome.wustl.edu 37 15 40308866 40308866 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 40308866 40308866 A G SNP EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known missense c.3923 p.K1308R 1.000 pirsf_Ser/Thr_kinase_GCN2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 111 0 0 101 30 22.9008 RMDN3 0 genome.wustl.edu 37 15 41029864 41029864 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 41029864 41029864 T C SNP RMDN3 ENST00000260385 human ensembl 74_37 -1 known missense c.1186 p.S396G 1.000 NULL NULL - no_errors RMDN3 HGNC ENSG00000137824 126 1 0.787402 107 23 17.6923 INO80 0 genome.wustl.edu 37 15 41362706 41362706 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 41362706 41362706 T C SNP INO80 ENST00000361937 human ensembl 74_37 -1 known missense c.1645 p.K549E 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 155 0 0 123 21 14.5833 ITPKA 0 genome.wustl.edu 37 15 41794637 41794637 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 41794637 41794637 C T SNP ITPKA ENST00000260386 human ensembl 74_37 +1 known missense c.1046 p.T349M 0.993 pfam_IPK pfam_IPK - no_errors ITPKA HGNC ENSG00000137825 57 0 0 72 9 11.1111 VPS39 0 genome.wustl.edu 37 15 42459039 42459039 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 42459039 42459039 C T SNP VPS39 ENST00000348544 human ensembl 74_37 -1 known missense c.1483 p.V495M 1.000 pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 233 0 0 200 46 18.6992 ZNF106 0 genome.wustl.edu 37 15 42743481 42743481 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 42743481 42743481 G T SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.920 p.P307H 0.990 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 177 0 0 120 36 23.0769 CATSPER2P1 0 genome.wustl.edu 37 15 44036306 44036306 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 44036306 44036306 G A SNP CATSPER2P1 ENST00000429276 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 42 0 0 34 4 10.5263 DUOX2 0 genome.wustl.edu 37 15 45388103 45388103 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 45388103 45388103 C T SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.4003 p.A1335T 1.000 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 88 0 0 81 17 17.3469 MIR147B 0 genome.wustl.edu 37 15 45725301 45725301 + RNA SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 45725301 45725301 C T SNP MIR147B ENST00000390185 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR147B HGNC ENSG00000211519 132 0 0 81 22 21.3592 NEDD4 0 genome.wustl.edu 37 15 56134223 56134223 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 56134223 56134223 A T SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known missense c.3004 p.L1002M 0.259 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors NEDD4 HGNC ENSG00000069869 196 0 0 178 15 7.77202 VPS13C 0 genome.wustl.edu 37 15 62209578 62209578 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 62209578 62209578 G T SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known silent c.8017 p.R2673 0.962 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 95 0 0 64 18 21.9512 TLN2 0 genome.wustl.edu 37 15 63000709 63000709 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 63000709 63000709 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.2181 p.S727 1.000 pfam_ILWEQ_dom pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 110 0 0 99 23 18.8525 PARP16 0 genome.wustl.edu 37 15 65553245 65553245 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 65553245 65553245 A G SNP PARP16 ENST00000261888 human ensembl 74_37 -1 known missense c.811 p.Y271H 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP16 HGNC ENSG00000138617 274 0 0 280 22 7.28477 GLCE 0 genome.wustl.edu 37 15 69561347 69561347 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 69561347 69561347 C T SNP GLCE ENST00000261858 human ensembl 74_37 +1 known missense c.1618 p.R540C 1.000 pfam_C5-epim pfam_C5-epim - no_errors GLCE HGNC ENSG00000138604 202 0 0 158 44 21.7822 LRRC49 0 genome.wustl.edu 37 15 71276445 71276445 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 71276445 71276445 T C SNP LRRC49 ENST00000260382 human ensembl 74_37 +1 known silent c.1018 p.L340 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 80 0 0 48 17 26.1538 THSD4 0 genome.wustl.edu 37 15 72063445 72063445 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 72063445 72063445 C T SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.2812 p.R938W 0.967 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 286 0 0 237 62 20.7358 PKM 0 genome.wustl.edu 37 15 72501132 72501132 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 72501132 72501132 C T SNP PKM ENST00000319622 human ensembl 74_37 -1 known silent c.666 p.S222 0.009 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 161 0 0 123 42 25.4545 NEO1 0 genome.wustl.edu 37 15 73541998 73541998 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 73541998 73541998 G T SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known silent c.1830 p.V610 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 238 0 0 201 33 14.1026 CIB2 0 genome.wustl.edu 37 15 78401632 78401632 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 78401632 78401632 C T SNP CIB2 ENST00000557917 human ensembl 74_37 -1 known missense c.179 p.C60Y 1.000 NULL NULL - no_errors CIB2 HGNC ENSG00000136425 80 0 0 66 17 20.4819 CRABP1 0 genome.wustl.edu 37 15 78633393 78633393 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 78633393 78633393 G A SNP CRABP1 ENST00000299529 human ensembl 74_37 +1 known missense c.79 p.A27T 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors CRABP1 HGNC ENSG00000166426 26 0 0 17 5 22.7273 AP3B2 0 genome.wustl.edu 37 15 83346060 83346060 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 83346060 83346060 A T SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.1454 p.I485N 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 53 0 0 36 8 18.1818 LOC283692 0 genome.wustl.edu 37 15 83360781 83360781 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 83360781 83360781 G A SNP LOC283692 ENST00000560650 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-752G15.3 Clone_based_vega_gene ENSG00000259462 71 0 0 61 18 22.7848 FSD2 0 genome.wustl.edu 37 15 83430979 83430979 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 83430979 83430979 C A SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known missense c.1872 p.W624C 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 55 0 0 47 8 14.5455 ZNF774 0 genome.wustl.edu 37 15 90904478 90904478 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 90904478 90904478 C T SNP ZNF774 ENST00000354377 human ensembl 74_37 +1 known missense c.1415 p.A472V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF774 HGNC ENSG00000196391 242 0 0 181 53 22.6496 SYNM 0 genome.wustl.edu 37 15 99670499 99670499 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 99670499 99670499 G A SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.1931 p.S644N 0.761 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 53 0 0 42 9 17.6471 CIITA 0 genome.wustl.edu 37 16 11017143 11017143 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 11017143 11017143 C T SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.3376 p.R1126W 0.239 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 177 0 0 138 31 18.3432 SNX29 0 genome.wustl.edu 37 16 12162983 12162983 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 12162983 12162983 G A SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.158 p.R53Q 0.282 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 147 0 0 121 8 6.20155 TELO2 0 genome.wustl.edu 37 16 1551487 1551487 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 1551487 1551487 G A SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known missense c.1348 p.A450T 0.000 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 28 0 0 17 4 19.0476 TELO2 0 genome.wustl.edu 37 16 1556320 1556320 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 1556320 1556320 C T SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known missense c.2116 p.R706C 0.010 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 106 0 0 89 16 15.2381 NOMO3 0 genome.wustl.edu 37 16 16349625 16349625 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 16349625 16349625 G A SNP NOMO3 ENST00000399336 human ensembl 74_37 +1 known missense c.1012 p.G338R 1.000 superfamily_CarboxyPept-like_regulatory pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO3 HGNC ENSG00000103226 72 0 0 52 22 29.7297 CRAMP1L 0 genome.wustl.edu 37 16 1709952 1709952 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 1709952 1709952 G A SNP CRAMP1L ENST00000293925 human ensembl 74_37 +1 known silent c.2301 p.T767 0.004 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 52 0 0 63 5 7.35294 RPL3L 0 genome.wustl.edu 37 16 2004000 2004000 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 2004000 2004000 C T SNP RPL3L ENST00000268661 human ensembl 74_37 -1 known silent c.153 p.A51 0.007 pfam_Ribosomal_L3,superfamily_Transl_B-barrel pfam_Ribosomal_L3,superfamily_Transl_B-barrel - no_errors RPL3L HGNC ENSG00000140986 18 0 0 16 5 23.8095 GPR139 0 genome.wustl.edu 37 16 20084900 20084900 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 20084900 20084900 C T SNP GPR139 ENST00000570682 human ensembl 74_37 -1 known silent c.39 p.S13 0.998 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 14 0 0 16 5 23.8095 TBL3 0 genome.wustl.edu 37 16 2027994 2027994 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 2027994 2027994 G A SNP TBL3 ENST00000568546 human ensembl 74_37 +1 known missense c.1994 p.R665Q 0.777 pfam_SSU_processome_Utp13 pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 62 0 0 60 8 11.7647 PDILT 0 genome.wustl.edu 37 16 20386166 20386166 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 20386166 20386166 T A SNP PDILT ENST00000302451 human ensembl 74_37 -1 known missense c.659 p.D220V 0.993 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 226 0 0 215 34 13.6546 DNAH3 0 genome.wustl.edu 37 16 20974905 20974905 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 20974905 20974905 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.10301 p.G3434D 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 99 0 0 91 18 16.5138 EARS2 0 genome.wustl.edu 37 16 23563615 23563615 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 23563615 23563615 G A SNP EARS2 ENST00000564668 human ensembl 74_37 -1 known missense c.230 p.T77I 1.000 NULL NULL - no_errors EARS2 HGNC ENSG00000103356 96 0 0 93 14 13.0841 RBBP6 0 genome.wustl.edu 37 16 24581665 24581665 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 24581665 24581665 A C SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.3654 p.K1218N 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 114 0 0 67 18 21.1765 GTF3C1 0 genome.wustl.edu 37 16 27503681 27503681 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 27503681 27503681 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known silent c.3129 p.C1043 0.766 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 109 0 0 102 7 6.42202 CCDC64B 0 genome.wustl.edu 37 16 3085468 3085468 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 3085468 3085468 C T SNP CCDC64B ENST00000389347 human ensembl 74_37 -1 known silent c.30 p.P10 0.030 NULL superfamily_Sig_transdc_His_kinase_dimeric - no_errors CCDC64B HGNC ENSG00000162069 23 0 0 33 9 21.4286 SETD1A 0 genome.wustl.edu 37 16 30990750 30990750 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 30990750 30990750 G A SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.3643 p.A1215T 0.999 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 18 0 0 12 5 29.4118 ZNF668 0 genome.wustl.edu 37 16 31073394 31073394 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 31073394 31073394 G A SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known silent c.924 p.C308 0.915 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 50 0 0 47 11 18.9655 ITGAX 0 genome.wustl.edu 37 16 31373185 31373185 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 31373185 31373185 C T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.1041 p.F347 0.739 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 176 0 0 145 39 21.1957 TGFB1I1 0 genome.wustl.edu 37 16 31485238 31485238 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 31485238 31485238 G A SNP TGFB1I1 ENST00000394863 human ensembl 74_37 +1 known missense c.265 p.G89R 1.000 pirsf_Leupaxin pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors TGFB1I1 HGNC ENSG00000140682 152 0 0 126 33 20.7547 SLC5A2 0 genome.wustl.edu 37 16 31500366 31500366 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 31500366 31500366 G T SNP SLC5A2 ENST00000330498 human ensembl 74_37 +1 known missense c.1446 p.E482D 0.766 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 63 0 0 51 17 25 ZNF205 0 genome.wustl.edu 37 16 3169295 3169295 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 3169295 3169295 G A SNP ZNF205 ENST00000219091 human ensembl 74_37 +1 known missense c.634 p.V212M 0.000 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 ZNF205 HGNC ENSG00000122386 88 0 0 81 30 27.027 SLX4 0 genome.wustl.edu 37 16 3640549 3640549 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 3640549 3640549 C T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known silent c.3090 p.P1030 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 121 0 0 120 8 6.25 SLX4 0 genome.wustl.edu 37 16 3658536 3658536 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 3658536 3658536 G A SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.430 p.L144F 0.001 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 123 0 0 89 35 28.2258 LOC100134368 0 genome.wustl.edu 37 16 436733 436733 + RNA SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 436733 436733 A C SNP LOC100134368 ENST00000457760 human ensembl 74_37 +1 known rna NULL NULL 0.413 - - - no_errors Z97634.3 Clone_based_vega_gene ENSG00000236829 53 0 0 34 5 12.8205 CDIP1 0 genome.wustl.edu 37 16 4562627 4562627 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 4562627 4562627 C T SNP CDIP1 ENST00000399599 human ensembl 74_37 -1 known silent c.573 p.T191 0.725 pfam_LITAF,smart_LITAF pfam_LITAF,smart_LITAF - no_errors CDIP1 HGNC ENSG00000089486 89 0 0 65 15 18.75 VPS35 0 genome.wustl.edu 37 16 46705645 46705645 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 46705645 46705645 C T SNP VPS35 ENST00000299138 human ensembl 74_37 -1 known missense c.1496 p.R499H 0.213 pfam_VPS35,superfamily_ARM-type_fold pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC ENSG00000069329 100 0 0 67 20 22.9885 ADCY7 0 genome.wustl.edu 37 16 50347950 50347950 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 50347950 50347950 G A SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.2833 p.V945I 0.567 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 71 0 0 51 18 26.087 OGFOD1 0 genome.wustl.edu 37 16 56485619 56485619 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 56485619 56485619 A G SNP OGFOD1 ENST00000566157 human ensembl 74_37 +1 known missense c.95 p.E32G 0.581 NULL pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph - no_errors OGFOD1 HGNC ENSG00000087263 90 0 0 93 7 7 NUP93 0 genome.wustl.edu 37 16 56864512 56864512 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 56864512 56864512 G A SNP NUP93 ENST00000308159 human ensembl 74_37 +1 known missense c.1000 p.A334T 1.000 pfam_Nucleoporin_int_Nup93/Nic96 pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 225 1 0.442478 164 51 23.7209 DOK4 0 genome.wustl.edu 37 16 57509501 57509501 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 57509501 57509501 G A SNP DOK4 ENST00000340099 human ensembl 74_37 -1 known missense c.206 p.T69M 0.991 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK4 HGNC ENSG00000125170 14 0 0 15 5 25 KATNB1 0 genome.wustl.edu 37 16 57789830 57789830 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 57789830 57789830 G A SNP KATNB1 ENST00000379661 human ensembl 74_37 +1 known splice_site c.1643+1 e16+1 1.000 - - - no_errors KATNB1 HGNC ENSG00000140854 44 0 0 39 5 11.3636 PRSS54 0 genome.wustl.edu 37 16 58318533 58318533 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 58318533 58318533 G A SNP PRSS54 ENST00000219301 human ensembl 74_37 -1 known silent c.615 p.C205 0.399 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 - no_errors PRSS54 HGNC ENSG00000103023 206 0 0 129 39 23.2143 NDRG4 0 genome.wustl.edu 37 16 58537768 58537768 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 58537768 58537768 C T SNP NDRG4 ENST00000394282 human ensembl 74_37 +1 known missense c.244 p.R82C 1.000 pfam_Ndr pfam_Ndr - no_errors NDRG4 HGNC ENSG00000103034 71 0 0 38 8 17.3913 CMTM4 0 genome.wustl.edu 37 16 66670346 66670346 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 66670346 66670346 G T SNP CMTM4 ENST00000330687 human ensembl 74_37 -1 known missense c.325 p.L109M 1.000 pfam_Marvel pfam_Marvel - no_errors CMTM4 HGNC ENSG00000183723 78 0 0 72 19 20.8791 B3GNT9 0 genome.wustl.edu 37 16 67183705 67183705 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 67183705 67183705 G A SNP B3GNT9 ENST00000449549 human ensembl 74_37 -1 known silent c.684 p.G228 0.989 pfam_Glyco_trans_31,pfam_Fringe-like pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT9 HGNC ENSG00000237172 27 0 0 27 6 18.1818 SLC9A5 0 genome.wustl.edu 37 16 67290816 67290816 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 67290816 67290816 G A SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known missense c.1135 p.V379I 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 119 0 0 103 21 16.9355 PRMT7 0 genome.wustl.edu 37 16 68373230 68373230 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 68373230 68373230 T A SNP PRMT7 ENST00000339507 human ensembl 74_37 +1 known missense c.510 p.N170K 0.001 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 108 0 0 84 25 22.9358 NFAT5 0 genome.wustl.edu 37 16 69681374 69681374 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 69681374 69681374 C T SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known nonsense c.697 p.R233* 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 129 0 0 92 24 20.6897 DHX38 0 genome.wustl.edu 37 16 72141255 72141255 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 72141255 72141255 G A SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known missense c.2617 p.A873T 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 71 0 0 67 14 17.284 ZFHX3 0 genome.wustl.edu 37 16 72834006 72834006 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 72834006 72834006 A G SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.3887 p.M1296T 1.000 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 139 0 0 113 10 8.13008 ZFHX3 0 genome.wustl.edu 37 16 72993954 72993954 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 72993954 72993954 G T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.91 p.H31N 1.000 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 126 0 0 102 25 19.685 WWOX 0 genome.wustl.edu 37 16 79245555 79245555 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 79245555 79245555 G A SNP WWOX ENST00000539474 human ensembl 74_37 +1 putative missense c.536 p.R179K 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWOX HGNC ENSG00000186153 113 0 0 114 7 5.78512 CDYL2 0 genome.wustl.edu 37 16 80638416 80638416 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 80638416 80638416 G A SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known missense c.1390 p.R464W 0.961 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 232 0 0 183 41 18.3036 GAN 0 genome.wustl.edu 37 16 81398967 81398967 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 81398967 81398967 G A SNP GAN ENST00000568107 human ensembl 74_37 +1 known silent c.1386 p.V462 0.964 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC ENSG00000261609 349 0 0 317 76 19.3384 MSLNL 0 genome.wustl.edu 37 16 830412 830412 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 830412 830412 C T SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known missense c.589 p.V197M 0.000 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 138 0 0 142 32 18.3908 TAF1C 0 genome.wustl.edu 37 16 84217343 84217343 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 84217343 84217343 C T SNP TAF1C ENST00000378541 human ensembl 74_37 -1 known silent c.180 p.P60 0.002 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 81 0 0 68 15 18.0723 FOXF1 0 genome.wustl.edu 37 16 86544680 86544680 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 86544680 86544680 A G SNP FOXF1 ENST00000262426 human ensembl 74_37 +1 known missense c.505 p.T169A 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC ENSG00000103241 47 0 0 41 9 18 MTHFSD 0 genome.wustl.edu 37 16 86575788 86575788 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 86575788 86575788 G A SNP MTHFSD ENST00000567539 human ensembl 74_37 -1 known missense c.152 p.P51L 0.295 NULL NULL - no_errors MTHFSD HGNC ENSG00000103248 84 0 0 65 22 25.2874 ZC3H18 0 genome.wustl.edu 37 16 88695190 88695190 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 88695190 88695190 C T SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.2494 p.R832C 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 128 0 0 123 11 8.20896 SNAI3 0 genome.wustl.edu 37 16 88748042 88748042 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 88748042 88748042 C T SNP SNAI3 ENST00000332281 human ensembl 74_37 -1 known missense c.157 p.G53S 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 31 0 0 22 5 18.5185 USP7 0 genome.wustl.edu 37 16 8987926 8987926 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 8987926 8987926 C T SNP USP7 ENST00000344836 human ensembl 74_37 -1 known missense c.3238 p.D1080N 1.000 NULL pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 155 0 0 129 41 24.1176 TUBB3 0 genome.wustl.edu 37 16 90000046 90000046 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 90000046 90000046 G A SNP TUBB3 ENST00000553967 human ensembl 74_37 +1 putative missense c.337 p.V113M 0.000 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Beta_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 83 0 0 77 22 22.2222 DNAH9 0 genome.wustl.edu 37 17 11648122 11648122 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 11648122 11648122 C T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.6120 p.Y2040 0.977 superfamily_P-loop_NTPase 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 DNAH9 HGNC ENSG00000007174 115 0 0 73 22 23.1579 MAP2K4 0 genome.wustl.edu 37 17 12016623 12016623 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 12016623 12016623 G A SNP MAP2K4 ENST00000415385 human ensembl 74_37 +1 known silent c.792 p.Q264 1.000 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 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 MAP2K4 HGNC ENSG00000065559 159 0 0 149 31 17.2222 MAP2K4 0 genome.wustl.edu 37 17 12028690 12028690 + Splice_Site SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 12028690 12028690 T C SNP MAP2K4 ENST00000415385 human ensembl 74_37 +1 known splice_site c.924+2 e9+2 1.000 - - - no_errors MAP2K4 HGNC ENSG00000065559 175 0 0 111 21 15.9091 YWHAE 0 genome.wustl.edu 37 17 1264466 1264466 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 1264466 1264466 C T SNP YWHAE ENST00000264335 human ensembl 74_37 -1 known silent c.498 p.T166 0.952 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAE HGNC ENSG00000108953 287 2 0.692042 213 51 19.3182 MYO1C 0 genome.wustl.edu 37 17 1373490 1373490 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 1373490 1373490 C T SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known silent c.2505 p.T835 0.003 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 22 0 0 17 3 15 COX10 0 genome.wustl.edu 37 17 14110390 14110390 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 14110390 14110390 C T SNP COX10 ENST00000261643 human ensembl 74_37 +1 known missense c.1192 p.R398C 1.000 pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC ENSG00000006695 135 0 0 103 26 20.155 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 156 1 0.636943 138 49 26.2032 RILP 0 genome.wustl.edu 37 17 1549887 1549887 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 1549887 1549887 G T SNP RILP ENST00000301336 human ensembl 74_37 -1 known missense c.1055 p.A352D 0.005 NULL pfam_RILP,pfam_JNK/Rab-associated_protein-1_N - no_errors RILP HGNC ENSG00000167705 202 1 0.492611 190 41 17.7489 FAM211A 0 genome.wustl.edu 37 17 16365691 16365691 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 16365691 16365691 T C SNP FAM211A ENST00000470794 human ensembl 74_37 -1 known missense c.256 p.M86V 1.000 NULL NULL - no_errors FAM211A HGNC ENSG00000181350 36 0 0 31 9 22.5 WDR81 0 genome.wustl.edu 37 17 1637274 1637274 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 1637274 1637274 C T SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.4943 p.S1648L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 91 0 0 104 23 18.1102 PEMT 0 genome.wustl.edu 37 17 17415893 17415893 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 17415893 17415893 C T SNP PEMT ENST00000255389 human ensembl 74_37 -1 known silent c.396 p.A132 0.001 pfam_Phopholipid_MeTrfase,pirsf_PEMT/MFAP pfam_Phopholipid_MeTrfase,pirsf_PEMT/MFAP - no_errors PEMT HGNC ENSG00000133027 17 0 0 18 5 21.7391 MYO15A 0 genome.wustl.edu 37 17 18062941 18062941 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 18062941 18062941 A G SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.9251 p.D3084G 0.998 smart_MyTH4_dom,pfscan_MyTH4_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 - no_errors MYO15A HGNC ENSG00000091536 68 0 0 67 10 12.987 SMCR8 0 genome.wustl.edu 37 17 18219725 18219725 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 18219725 18219725 G A SNP SMCR8 ENST00000406438 human ensembl 74_37 +1 known missense c.622 p.V208M 1.000 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 94 0 0 81 25 23.5849 FBXW10 0 genome.wustl.edu 37 17 18653319 18653319 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 18653319 18653319 C T SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known missense c.955 p.P319S 0.113 superfamily_F-box_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 205 1 0.485437 257 50 16.2866 AKAP10 0 genome.wustl.edu 37 17 19839741 19839741 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 19839741 19839741 T C SNP AKAP10 ENST00000225737 human ensembl 74_37 -1 known missense c.1325 p.Y442C 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors AKAP10 HGNC ENSG00000108599 69 0 0 54 5 8.47458 FAM27L 0 genome.wustl.edu 37 17 21826146 21826146 + RNA SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 21826146 21826146 C T SNP FAM27L ENST00000426869 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors FAM27L HGNC ENSG00000178130 122 0 0 100 14 12.2807 SRR 0 genome.wustl.edu 37 17 2222212 2222212 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 2222212 2222212 C T SNP SRR ENST00000344595 human ensembl 74_37 +1 known missense c.388 p.P130S 0.683 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SRR HGNC ENSG00000167720 227 0 0 187 14 6.96517 SUPT6H 0 genome.wustl.edu 37 17 27016406 27016406 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 27016406 27016406 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.3169 p.R1057C 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 173 1 0.574713 153 36 19.0476 RAB34 0 genome.wustl.edu 37 17 27042506 27042506 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 27042506 27042506 G T SNP RAB34 ENST00000447716 human ensembl 74_37 -1 known missense c.570 p.N190K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB34 HGNC ENSG00000109113 93 0 0 87 23 20.9091 COPRS 0 genome.wustl.edu 37 17 30183884 30183884 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 30183884 30183884 C T SNP COPRS ENST00000302362 human ensembl 74_37 -1 known missense c.100 p.A34T 0.252 NULL NULL - no_errors COPRS HGNC ENSG00000172301 569 0 0 533 44 7.62565 MYO1D 0 genome.wustl.edu 37 17 31048090 31048090 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 31048090 31048090 G A SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.1864 p.R622C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 332 0 0 298 17 5.39683 AP2B1 0 genome.wustl.edu 37 17 33954650 33954650 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 33954650 33954650 G A SNP AP2B1 ENST00000312678 human ensembl 74_37 +1 known missense c.1060 p.V354I 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 140 0 0 111 34 23.4483 AP2B1 0 genome.wustl.edu 37 17 34050800 34050800 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 34050800 34050800 G A SNP AP2B1 ENST00000545922 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AP2B1 HGNC ENSG00000006125 53 0 0 37 7 15.9091 C17orf66 0 genome.wustl.edu 37 17 34182245 34182245 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 34182245 34182245 C A SNP C17orf66 ENST00000311880 human ensembl 74_37 -1 known missense c.1535 p.R512L 0.046 NULL superfamily_ARM-type_fold - no_errors C17orf66 HGNC ENSG00000172653 335 0 0 266 56 17.3913 ACACA 0 genome.wustl.edu 37 17 35486328 35486328 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 35486328 35486328 G A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known silent c.5907 p.Y1969 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 66 0 0 66 21 24.1379 MLLT6 0 genome.wustl.edu 37 17 36861965 36861965 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 36861965 36861965 G T SNP MLLT6 ENST00000325718 human ensembl 74_37 +1 known missense c.80 p.G27V 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 64 0 0 63 10 13.6986 PCGF2 0 genome.wustl.edu 37 17 36896593 36896593 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 36896593 36896593 G A SNP PCGF2 ENST00000360797 human ensembl 74_37 -1 known silent c.63 p.C21 0.990 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF2 HGNC ENSG00000056661 88 0 0 87 14 13.8614 ZPBP2 0 genome.wustl.edu 37 17 38026975 38026975 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 38026975 38026975 T A SNP ZPBP2 ENST00000348931 human ensembl 74_37 +1 known missense c.147 p.N49K 0.836 pfscan_Ig-like_dom pfam_Sp38-bd,pfscan_Ig-like_dom - no_errors ZPBP2 HGNC ENSG00000186075 85 0 0 87 11 11.2245 SMARCE1 0 genome.wustl.edu 37 17 38793825 38793825 + Splice_Site SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 38793825 38793825 C A SNP SMARCE1 ENST00000348513 human ensembl 74_37 -1 known splice_site c.157-1 e4-1 1.000 - - - no_errors SMARCE1 HGNC ENSG00000073584 157 0 0 120 34 22.0779 KRT25 0 genome.wustl.edu 37 17 38907553 38907553 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 38907553 38907553 G A SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known missense c.695 p.A232V 0.296 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 93 0 0 60 4 6.25 KRT27 0 genome.wustl.edu 37 17 38935850 38935850 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 38935850 38935850 G A SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known silent c.876 p.D292 0.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 58 0 0 53 12 18.4615 KRT27 0 genome.wustl.edu 37 17 38938700 38938700 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 38938700 38938700 C T SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known missense c.46 p.G16R 0.058 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 14 0 0 14 3 17.6471 KRTAP3-3 0 genome.wustl.edu 37 17 39150246 39150246 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 39150246 39150246 G A SNP KRTAP3-3 ENST00000391586 human ensembl 74_37 -1 known missense c.104 p.T35I 1.000 pfam_Keratin_matx pfam_Keratin_matx - no_errors KRTAP3-3 HGNC ENSG00000212899 145 0 0 150 30 16.6667 KRTAP4-6 0 genome.wustl.edu 37 17 39296555 39296555 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 39296555 39296555 C T SNP KRTAP4-6 ENST00000345847 human ensembl 74_37 -1 known missense c.185 p.R62H 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC ENSG00000198090 76 0 0 57 16 21.9178 KRTAP4-1 0 genome.wustl.edu 37 17 39340883 39340883 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 39340883 39340883 C T SNP KRTAP4-1 ENST00000398472 human ensembl 74_37 -1 known missense c.224 p.R75H 0.840 NULL pfam_Keratin-assoc - no_errors KRTAP4-1 HGNC ENSG00000198443 39 0 0 36 4 10 KRT38 0 genome.wustl.edu 37 17 39596889 39596889 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 39596889 39596889 A G SNP KRT38 ENST00000246646 human ensembl 74_37 -1 known silent c.285 p.Y95 0.000 NULL pfam_IF,prints_Keratin_I - no_errors KRT38 HGNC ENSG00000171360 128 1 0.775194 122 31 20.2614 KRT38 0 genome.wustl.edu 37 17 39596907 39596907 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 39596907 39596907 A G SNP KRT38 ENST00000246646 human ensembl 74_37 -1 known silent c.267 p.I89 0.000 NULL pfam_IF,prints_Keratin_I - no_errors KRT38 HGNC ENSG00000171360 123 0 0 95 29 23.3871 KRT15 0 genome.wustl.edu 37 17 39674627 39674627 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 39674627 39674627 G A SNP KRT15 ENST00000393981 human ensembl 74_37 -1 known missense c.41 p.A14V 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT15 HGNC ENSG00000171346 118 0 0 80 36 31.0345 KLHL11 0 genome.wustl.edu 37 17 40011390 40011390 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 40011390 40011390 C T SNP KLHL11 ENST00000319121 human ensembl 74_37 -1 known silent c.729 p.T243 0.666 pfam_BACK,smart_BACK pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL11 HGNC ENSG00000178502 186 0 0 123 39 24.0741 DHX58 0 genome.wustl.edu 37 17 40253855 40253855 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 40253855 40253855 C T SNP DHX58 ENST00000251642 human ensembl 74_37 -1 known missense c.1961 p.R654H 0.005 pfam_RIG-I_C-RD pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 78 0 0 86 13 13.1313 STAT5B 0 genome.wustl.edu 37 17 40371806 40371806 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 40371806 40371806 G A SNP STAT5B ENST00000293328 human ensembl 74_37 -1 known missense c.605 p.T202M 1.000 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 44 0 0 26 15 36.5854 STAT5A 0 genome.wustl.edu 37 17 40459717 40459717 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 40459717 40459717 A G SNP STAT5A ENST00000345506 human ensembl 74_37 +1 known missense c.1882 p.T628A 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 64 0 0 52 14 21.2121 BRCA1 0 genome.wustl.edu 37 17 41246445 41246445 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 41246445 41246445 T C SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.1103 p.E368G 0.210 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 525 0 0 504 38 7.01107 MPP3 0 genome.wustl.edu 37 17 41908667 41908667 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 41908667 41908667 T C SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known missense c.167 p.Y56C 1.000 pfam_L27_C,smart_L27,pfscan_L27 pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 128 0 0 91 31 25.4098 SLC25A39 0 genome.wustl.edu 37 17 42397752 42397752 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 42397752 42397752 A G SNP SLC25A39 ENST00000377095 human ensembl 74_37 -1 known missense c.854 p.V285A 0.936 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A39 HGNC ENSG00000013306 47 0 0 49 5 9.25926 GPATCH8 0 genome.wustl.edu 37 17 42475537 42475537 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 42475537 42475537 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.3908 p.A1303V 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 161 0 0 186 10 5.10204 GPATCH8 0 genome.wustl.edu 37 17 42476193 42476193 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 42476193 42476193 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known silent c.3252 p.D1084 0.967 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 124 0 0 90 20 18.1818 FZD2 0 genome.wustl.edu 37 17 42635082 42635082 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 42635082 42635082 G A SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.26 p.R9H 0.999 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 11 0 0 9 5 35.7143 PLEKHM1 0 genome.wustl.edu 37 17 43531400 43531400 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 43531400 43531400 G A SNP PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known silent c.1818 p.R606 0.003 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 74 0 0 63 8 11.2676 PLEKHM1 0 genome.wustl.edu 37 17 43553069 43553069 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 43553069 43553069 T C SNP PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known missense c.320 p.H107R 1.000 pfam_Run,pfscan_Run pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 24 0 0 22 4 15.3846 CRHR1 0 genome.wustl.edu 37 17 43906680 43906680 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 43906680 43906680 C T SNP CRHR1 ENST00000398285 human ensembl 74_37 +1 known missense c.427 p.R143W 1.000 pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 51 0 0 31 14 31.1111 SPPL2C 0 genome.wustl.edu 37 17 43922863 43922863 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 43922863 43922863 A G SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known silent c.591 p.T197 0.114 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 90 0 0 83 15 15.3061 NGFR 0 genome.wustl.edu 37 17 47587858 47587858 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 47587858 47587858 C A SNP NGFR ENST00000172229 human ensembl 74_37 +1 known missense c.653 p.P218H 0.781 NULL pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 - no_errors NGFR HGNC ENSG00000064300 113 0 0 86 14 14 XYLT2 0 genome.wustl.edu 37 17 48433494 48433494 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 48433494 48433494 G A SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.1354 p.V452M 0.999 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 92 0 0 59 19 24.359 XYLT2 0 genome.wustl.edu 37 17 48435836 48435836 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 48435836 48435836 C T SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.2210 p.P737L 0.807 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 65 0 0 47 10 17.5439 RSAD1 0 genome.wustl.edu 37 17 48561095 48561095 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 48561095 48561095 C T SNP RSAD1 ENST00000258955 human ensembl 74_37 +1 known missense c.1081 p.R361C 0.992 pfam_HemN_C_dom,tigrfam_Coprogen_oxidase_HemN-rel pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel - no_errors RSAD1 HGNC ENSG00000136444 103 0 0 63 15 19.2308 ENO3 0 genome.wustl.edu 37 17 4858823 4858823 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 4858823 4858823 G A SNP ENO3 ENST00000323997 human ensembl 74_37 +1 known silent c.789 p.S263 0.456 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENSG00000108515 405 0 0 272 94 25.6831 CAMTA2 0 genome.wustl.edu 37 17 4883674 4883674 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 4883674 4883674 G A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known nonsense c.1012 p.R338* 0.810 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 43 0 0 38 6 13.6364 NME1-NME2 0 genome.wustl.edu 37 17 49247316 49247316 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 49247316 49247316 G A SNP NME1-NME2 ENST00000608447 human ensembl 74_37 +1 known missense c.667 p.V223M 1.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME1-NME2 HGNC ENSG00000243678 114 0 0 86 13 13.1313 KIF2B 0 genome.wustl.edu 37 17 51900915 51900915 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 51900915 51900915 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.521 p.R174H 0.800 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 99 0 0 117 7 5.64516 C1QBP 0 genome.wustl.edu 37 17 5337060 5337060 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 5337060 5337060 C T SNP C1QBP ENST00000225698 human ensembl 74_37 -1 known missense c.505 p.V169M 1.000 pfam_MAM33,superfamily_MAM33 pfam_MAM33,superfamily_MAM33 - no_errors C1QBP HGNC ENSG00000108561 274 0 0 154 42 21.4286 NLRP1 0 genome.wustl.edu 37 17 5418368 5418368 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 5418368 5418368 C T SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known silent c.4128 p.P1376 0.000 superfamily_DEATH-like_dom pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 46 0 0 55 11 16.6667 MPO 0 genome.wustl.edu 37 17 56348170 56348170 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 56348170 56348170 G T SNP MPO ENST00000340482 human ensembl 74_37 -1 known silent c.2181 p.A727 0.621 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 93 0 0 100 8 7.40741 MTMR4 0 genome.wustl.edu 37 17 56584616 56584616 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 56584616 56584616 G A SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known missense c.730 p.R244C 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 93 0 0 64 4 5.88235 C17orf47 0 genome.wustl.edu 37 17 56620624 56620624 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 56620624 56620624 G A SNP C17orf47 ENST00000321691 human ensembl 74_37 -1 known silent c.924 p.S308 0.000 NULL NULL - no_errors C17orf47 HGNC ENSG00000181013 127 0 0 109 39 26.3514 CLTC 0 genome.wustl.edu 37 17 57760780 57760780 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 57760780 57760780 G A SNP CLTC ENST00000269122 human ensembl 74_37 +1 known nonsense c.4074 p.W1358* 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 114 0 0 112 6 5.08475 USP32 0 genome.wustl.edu 37 17 58343335 58343335 + Splice_Site SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 58343335 58343335 A G SNP USP32 ENST00000300896 human ensembl 74_37 -1 known splice_site c.927+2 e8+2 1.000 - - - no_errors USP32 HGNC ENSG00000170832 168 0 0 102 28 21.5385 TBX4 0 genome.wustl.edu 37 17 59560552 59560552 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 59560552 59560552 C T SNP TBX4 ENST00000393853 human ensembl 74_37 +1 known missense c.1316 p.P439L 0.998 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 100 0 0 88 20 18.5185 MED13 0 genome.wustl.edu 37 17 60059688 60059688 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 60059688 60059688 G A SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.3676 p.R1226C 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 306 0 0 219 58 20.9386 TANC2 0 genome.wustl.edu 37 17 61466684 61466684 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 61466684 61466684 A G SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.2608 p.I870V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 101 0 0 52 26 33.3333 KCNH6 0 genome.wustl.edu 37 17 61611294 61611294 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 61611294 61611294 G A SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known silent c.723 p.A241 0.348 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 96 0 0 91 27 22.8814 MAP3K3 0 genome.wustl.edu 37 17 61710073 61710073 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 61710073 61710073 G A SNP MAP3K3 ENST00000361357 human ensembl 74_37 +1 known missense c.37 p.D13N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K3 HGNC ENSG00000198909 117 0 0 93 17 15.4545 CSHL1 0 genome.wustl.edu 37 17 61987659 61987659 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 61987659 61987659 G A SNP CSHL1 ENST00000309894 human ensembl 74_37 -1 known silent c.334 p.L112 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSHL1 HGNC ENSG00000204414 90 0 0 94 8 7.84314 APOH 0 genome.wustl.edu 37 17 64216830 64216830 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 64216830 64216830 G A SNP APOH ENST00000205948 human ensembl 74_37 -1 known missense c.446 p.T149M 0.002 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors APOH HGNC ENSG00000091583 178 1 0.558659 145 42 22.4599 PITPNC1 0 genome.wustl.edu 37 17 65628318 65628318 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 65628318 65628318 C T SNP PITPNC1 ENST00000335257 human ensembl 74_37 +1 known silent c.426 p.C142 0.877 pfam_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNC1 HGNC ENSG00000154217 78 0 0 77 7 8.33333 KPNA2 0 genome.wustl.edu 37 17 66039402 66039402 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 66039402 66039402 C T SNP KPNA2 ENST00000330459 human ensembl 74_37 +1 known nonsense c.853 p.R285* 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 532 0 0 403 93 18.75 SLC16A6 0 genome.wustl.edu 37 17 66265357 66265357 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 66265357 66265357 T C SNP SLC16A6 ENST00000327268 human ensembl 74_37 -1 known silent c.1452 p.S484 0.013 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A6 HGNC ENSG00000108932 73 0 0 60 16 21.0526 ABCA8 0 genome.wustl.edu 37 17 66924149 66924149 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 66924149 66924149 C T SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known missense c.1181 p.G394D 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 83 0 0 68 19 21.8391 GLOD4 0 genome.wustl.edu 37 17 679152 679152 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 679152 679152 G A SNP GLOD4 ENST00000301328 human ensembl 74_37 -1 known missense c.314 p.T105M 0.996 NULL NULL - no_errors GLOD4 HGNC ENSG00000167699 162 0 0 112 21 15.7895 DVL2 0 genome.wustl.edu 37 17 7131021 7131021 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 7131021 7131021 C T SNP DVL2 ENST00000005340 human ensembl 74_37 -1 known missense c.1184 p.G395D 1.000 NULL pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam - no_errors DVL2 HGNC ENSG00000004975 31 0 0 30 3 9.09091 KIAA0195 0 genome.wustl.edu 37 17 73491708 73491708 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 73491708 73491708 C T SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known silent c.2928 p.T976 0.071 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 284 1 0.350877 222 67 23.1834 TRIM65 0 genome.wustl.edu 37 17 73888555 73888555 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 73888555 73888555 C A SNP TRIM65 ENST00000269383 human ensembl 74_37 -1 known missense c.537 p.W179C 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM65 HGNC ENSG00000141569 45 0 0 31 7 18.4211 FBF1 0 genome.wustl.edu 37 17 73919411 73919411 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 73919411 73919411 A G SNP FBF1 ENST00000389570 human ensembl 74_37 -1 known missense c.1238 p.L413P 0.000 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 18 0 0 13 3 18.75 ACOX1 0 genome.wustl.edu 37 17 73947496 73947496 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 73947496 73947496 C A SNP ACOX1 ENST00000293217 human ensembl 74_37 -1 known missense c.1107 p.E369D 1.000 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 133 0 0 94 40 29.8507 EVPL 0 genome.wustl.edu 37 17 74005700 74005700 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 74005700 74005700 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.3586 p.V1196I 0.028 superfamily_Ferritin-like_SF,smart_Plectin_repeat pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 109 0 0 99 19 16.1017 CHD3 0 genome.wustl.edu 37 17 7794025 7794025 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 7794025 7794025 G A SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.350 p.R117Q 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 10 0 0 17 5 22.7273 CCDC40 0 genome.wustl.edu 37 17 78023884 78023884 + Silent SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 78023884 78023884 C A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known silent c.961 p.R321 0.003 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 58 0 0 35 7 16.6667 CHD3 0 genome.wustl.edu 37 17 7803219 7803219 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 7803219 7803219 G T SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.2550 p.E850D 0.996 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 114 0 0 120 9 6.97674 C17orf70 0 genome.wustl.edu 37 17 79508401 79508401 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 79508401 79508401 G A SNP C17orf70 ENST00000327787 human ensembl 74_37 -1 known silent c.2448 p.A816 0.231 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 25 0 0 11 7 38.8889 C17orf70 0 genome.wustl.edu 37 17 79517607 79517607 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 79517607 79517607 C T SNP C17orf70 ENST00000327787 human ensembl 74_37 -1 known missense c.913 p.E305K 0.002 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 136 0 0 94 30 24.1935 RAC3 0 genome.wustl.edu 37 17 79991663 79991663 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 79991663 79991663 G A SNP RAC3 ENST00000306897 human ensembl 74_37 +1 known silent c.537 p.P179 0.126 superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAC3 HGNC ENSG00000169750 21 0 0 18 5 21.7391 DUS1L 0 genome.wustl.edu 37 17 80017938 80017938 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 80017938 80017938 C T SNP DUS1L ENST00000306796 human ensembl 74_37 -1 known missense c.1054 p.A352T 0.001 NULL pfam_tRNA_hU_synthase - no_errors DUS1L HGNC ENSG00000169718 38 0 0 30 9 23.0769 ARHGEF15 0 genome.wustl.edu 37 17 8215418 8215418 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 8215418 8215418 C T SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.61 p.R21C 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 69 0 0 62 23 27.0588 MYH10 0 genome.wustl.edu 37 17 8404186 8404186 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 8404186 8404186 T C SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known silent c.3672 p.T1224 0.000 pfam_Myosin_tail,superfamily_UBA-like pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 268 0 0 183 44 19.3833 RCVRN 0 genome.wustl.edu 37 17 9804356 9804356 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 9804356 9804356 G A SNP RCVRN ENST00000226193 human ensembl 74_37 -1 known missense c.443 p.P148L 0.998 pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors RCVRN HGNC ENSG00000109047 118 0 0 88 22 20 TUBB6 0 genome.wustl.edu 37 18 12308711 12308711 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 12308711 12308711 A G SNP TUBB6 ENST00000317702 human ensembl 74_37 +1 known missense c.83 p.H28R 1.000 pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB6 HGNC ENSG00000176014 91 0 0 94 6 6 SPIRE1 0 genome.wustl.edu 37 18 12454398 12454398 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 12454398 12454398 G C SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known missense c.1723 p.L575V 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 327 0 0 248 73 22.7414 POTEC 0 genome.wustl.edu 37 18 14542736 14542736 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 14542736 14542736 C T SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.410 p.R137Q 0.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 211 0 0 166 43 20.5742 ANKRD30B 0 genome.wustl.edu 37 18 14791465 14791465 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 14791465 14791465 C T SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known silent c.1800 p.F600 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 74 0 0 38 11 22.449 CHST9 0 genome.wustl.edu 37 18 24722722 24722722 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 24722722 24722722 G A SNP CHST9 ENST00000284224 human ensembl 74_37 -1 known silent c.52 p.L18 1.000 NULL pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 224 0 0 169 37 17.9612 MOCOS 0 genome.wustl.edu 37 18 33775270 33775270 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 33775270 33775270 C T SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known missense c.193 p.L65F 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 205 0 0 153 42 21.5385 CELF4 0 genome.wustl.edu 37 18 34854283 34854283 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 34854283 34854283 G A SNP CELF4 ENST00000590112 human ensembl 74_37 -1 known missense c.740 p.T247M 0.928 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 134 0 0 127 12 8.63309 PIK3C3 0 genome.wustl.edu 37 18 39570520 39570520 + Splice_Site SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 39570520 39570520 T C SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known splice_site c.714+2 e6+2 1.000 - - - no_errors PIK3C3 HGNC ENSG00000078142 91 0 0 82 7 7.86517 SETBP1 0 genome.wustl.edu 37 18 42531185 42531185 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 42531185 42531185 G A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.1880 p.R627H 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 111 0 0 81 23 22.1154 SLC14A1 0 genome.wustl.edu 37 18 43328373 43328373 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 43328373 43328373 G A SNP SLC14A1 ENST00000589700 human ensembl 74_37 +1 putative nonsense c.831 p.W277* 0.134 pirsf_Urea_transporter pfam_Urea_transporter,pirsf_Urea_transporter - no_errors SLC14A1 HGNC ENSG00000141469 349 0 0 252 68 21.25 EPB41L3 0 genome.wustl.edu 37 18 5443867 5443867 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 5443867 5443867 G T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.499 p.P167T 1.000 pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 181 0 0 138 35 20.2312 TMEM200C 0 genome.wustl.edu 37 18 5891983 5891983 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 5891983 5891983 C T SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known missense c.80 p.R27H 1.000 pfam_DUF2371_TMEM200 pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 42 0 0 46 12 20.6897 CDH20 0 genome.wustl.edu 37 18 59221564 59221564 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 59221564 59221564 C T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.2042 p.A681V 0.997 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 93 0 0 75 26 25.7426 PHLPP1 0 genome.wustl.edu 37 18 60609077 60609077 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 60609077 60609077 G A SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known silent c.3087 p.V1029 1.000 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 98 0 0 72 10 12.1951 SERPINB8 0 genome.wustl.edu 37 18 61654298 61654298 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 61654298 61654298 C T SNP SERPINB8 ENST00000353706 human ensembl 74_37 +1 known missense c.911 p.T304I 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB8 HGNC ENSG00000166401 126 0 0 106 25 19.084 CD226 0 genome.wustl.edu 37 18 67563239 67563239 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 67563239 67563239 G A SNP CD226 ENST00000280200 human ensembl 74_37 -1 known missense c.425 p.S142L 0.175 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD226 HGNC ENSG00000150637 76 0 0 76 4 5 TIMM21 0 genome.wustl.edu 37 18 71825638 71825638 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 71825638 71825638 C T SNP TIMM21 ENST00000169551 human ensembl 74_37 +1 known nonsense c.670 p.R224* 0.984 pfam_Tim21 pfam_Tim21 - no_errors TIMM21 HGNC ENSG00000075336 63 0 0 35 9 20.4545 ZNF236 0 genome.wustl.edu 37 18 74639309 74639309 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 74639309 74639309 T C SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.4244 p.L1415P 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 102 1 0.970874 70 18 20.4545 SALL3 0 genome.wustl.edu 37 18 76757103 76757103 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 76757103 76757103 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known silent c.3684 p.N1228 0.834 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 221 0 0 126 37 22.6994 NFATC1 0 genome.wustl.edu 37 18 77170868 77170868 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 77170868 77170868 C T SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known missense c.593 p.A198V 0.991 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 110 0 0 119 29 19.5946 NFATC1 0 genome.wustl.edu 37 18 77287538 77287538 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 77287538 77287538 A G SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known missense c.2793 p.I931M 0.888 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 110 0 0 123 9 6.81818 CTDP1 0 genome.wustl.edu 37 18 77475153 77475153 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 77475153 77475153 G A SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known missense c.1693 p.G565R 0.999 NULL pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 16 0 0 20 6 23.0769 PTPRM 0 genome.wustl.edu 37 18 8370934 8370934 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 8370934 8370934 A G SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.3104 p.D1035G 1.000 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_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 182 0 0 145 37 20.3297 TXNDC2 0 genome.wustl.edu 37 18 9887504 9887504 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 9887504 9887504 A G SNP TXNDC2 ENST00000306084 human ensembl 74_37 +1 known missense c.1028 p.D343G 0.000 pfam_Glutenin pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 180 0 0 161 34 17.4359 TXNDC2 0 genome.wustl.edu 37 18 9887579 9887579 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 9887579 9887579 A T SNP TXNDC2 ENST00000306084 human ensembl 74_37 +1 known missense c.1103 p.Q368L 0.000 pfam_Glutenin pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 156 0 0 156 26 14.2857 GRIN3B 0 genome.wustl.edu 37 19 1004645 1004645 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 1004645 1004645 C T SNP GRIN3B ENST00000234389 human ensembl 74_37 +1 known missense c.1145 p.A382V 0.999 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 14 0 0 18 6 25 SMARCA4 0 genome.wustl.edu 37 19 11097631 11097631 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 11097631 11097631 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.811 p.G271R 0.998 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 72 0 0 63 10 13.6986 RGL3 0 genome.wustl.edu 37 19 11527510 11527510 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 11527510 11527510 C T SNP RGL3 ENST00000393423 human ensembl 74_37 -1 known missense c.371 p.G124E 0.772 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL3 HGNC ENSG00000205517 81 0 0 99 22 18.1818 PRKCSH 0 genome.wustl.edu 37 19 11552119 11552119 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 11552119 11552119 C T SNP PRKCSH ENST00000252455 human ensembl 74_37 +1 known missense c.415 p.R139C 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 195 0 0 183 42 18.6667 RAD23A 0 genome.wustl.edu 37 19 13063564 13063564 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 13063564 13063564 C T SNP RAD23A ENST00000586534 human ensembl 74_37 +1 known missense c.875 p.A292V 0.171 superfamily_XPC-bd,superfamily_UBA-like,tigrfam_Rad23 pfam_XPC-bd,pfam_UBA/Ts_N,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 - no_errors RAD23A HGNC ENSG00000179262 75 0 0 55 17 23.6111 APC2 0 genome.wustl.edu 37 19 1468467 1468467 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 1468467 1468467 G A SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.5167 p.G1723R 0.847 NULL pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 16 0 0 29 3 9.375 OR7C1 0 genome.wustl.edu 37 19 14910551 14910551 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 14910551 14910551 G A SNP OR7C1 ENST00000248073 human ensembl 74_37 -1 known missense c.398 p.T133M 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7C1 HGNC ENSG00000127530 155 0 0 129 28 17.8344 CYP4F3 0 genome.wustl.edu 37 19 15752380 15752380 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 15752380 15752380 C T SNP CYP4F3 ENST00000221307 human ensembl 74_37 +1 known missense c.155 p.P52L 0.951 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F3 HGNC ENSG00000186529 107 0 0 92 16 14.8148 OR10H2 0 genome.wustl.edu 37 19 15839703 15839703 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 15839703 15839703 C T SNP OR10H2 ENST00000305899 human ensembl 74_37 +1 known missense c.850 p.P284S 0.420 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H2 HGNC ENSG00000171942 122 0 0 115 7 5.7377 CYP4F2 0 genome.wustl.edu 37 19 16003188 16003188 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 16003188 16003188 C T SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known silent c.456 p.T152 0.989 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 139 0 0 136 19 12.2581 CHERP 0 genome.wustl.edu 37 19 16632356 16632356 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 16632356 16632356 G A SNP CHERP ENST00000546361 human ensembl 74_37 -1 known missense c.2090 p.P697L 0.999 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 16 0 0 14 3 17.6471 MED26 0 genome.wustl.edu 37 19 16689216 16689216 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 16689216 16689216 C T SNP MED26 ENST00000263390 human ensembl 74_37 -1 known missense c.77 p.R26Q 1.000 superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors MED26 HGNC ENSG00000105085 84 0 0 84 29 25.6637 NWD1 0 genome.wustl.edu 37 19 16874647 16874647 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 16874647 16874647 G A SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known silent c.2142 p.P714 0.789 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 91 0 0 87 20 18.6916 PLVAP 0 genome.wustl.edu 37 19 17476311 17476311 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 17476311 17476311 C T SNP PLVAP ENST00000252590 human ensembl 74_37 -1 known silent c.963 p.A321 0.007 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 79 0 0 60 17 22.0779 KIAA1683 0 genome.wustl.edu 37 19 18368203 18368203 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 18368203 18368203 C T SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known silent c.3891 p.P1297 0.000 superfamily_P-loop_NTPase pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 51 0 0 28 5 15.1515 KIAA1683 0 genome.wustl.edu 37 19 18368702 18368702 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 18368702 18368702 C T SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known missense c.3392 p.R1131H 0.003 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 57 0 0 57 8 12.3077 ZNF101 0 genome.wustl.edu 37 19 19790992 19790992 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 19790992 19790992 G C SNP ZNF101 ENST00000318110 human ensembl 74_37 +1 known missense c.1194 p.Q398H 0.010 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 ZNF101 HGNC ENSG00000181896 109 0 0 68 18 20.9302 ZNF676 0 genome.wustl.edu 37 19 22363169 22363169 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 22363169 22363169 T C SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known silent c.1350 p.K450 0.120 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 314 0 0 243 20 7.60456 ZNF676 0 genome.wustl.edu 37 19 22363511 22363511 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 22363511 22363511 G A SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known silent c.1008 p.P336 0.087 pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 270 0 0 215 24 10.0418 ZNF676 0 genome.wustl.edu 37 19 22363521 22363521 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 22363521 22363521 C G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.998 p.G333A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 277 0 0 218 24 9.91736 ZNF676 0 genome.wustl.edu 37 19 22363543 22363543 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 22363543 22363543 C T SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.976 p.E326K 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 281 0 0 201 25 11.0619 ZNF676 0 genome.wustl.edu 37 19 22363549 22363549 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 22363549 22363549 G A SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.970 p.L324F 0.561 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 286 0 0 207 23 10 ZNF676 0 genome.wustl.edu 37 19 22375886 22375886 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 22375886 22375886 A T SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.62 p.I21N 0.490 superfamily_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 159 0 0 147 9 5.76923 ZNF91 0 genome.wustl.edu 37 19 23543818 23543818 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 23543818 23543818 C G SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.1963 p.E655Q 0.998 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 ZNF91 HGNC ENSG00000167232 202 0 0 184 10 5.15464 ZNF681 0 genome.wustl.edu 37 19 23927062 23927062 + Silent SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 23927062 23927062 A C SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known silent c.1290 p.A430 0.241 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 ZNF681 HGNC ENSG00000196172 74 0 0 54 10 15.625 SLC39A3 0 genome.wustl.edu 37 19 2737213 2737213 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 2737213 2737213 C T SNP SLC39A3 ENST00000269740 human ensembl 74_37 -1 known missense c.43 p.V15M 0.621 pfam_ZIP pfam_ZIP - no_errors SLC39A3 HGNC ENSG00000141873 51 0 0 46 4 8 THOP1 0 genome.wustl.edu 37 19 2813270 2813270 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 2813270 2813270 G T SNP THOP1 ENST00000307741 human ensembl 74_37 +1 known missense c.2066 p.C689F 1.000 NULL pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 17 0 0 7 6 46.1538 PPAP2C 0 genome.wustl.edu 37 19 287508 287508 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 287508 287508 A G SNP PPAP2C ENST00000327790 human ensembl 74_37 -1 known missense c.511 p.C171R 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2C HGNC ENSG00000141934 162 1 0.613497 163 38 18.9055 PPAP2C 0 genome.wustl.edu 37 19 287537 287537 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 287537 287537 C T SNP PPAP2C ENST00000327790 human ensembl 74_37 -1 known missense c.482 p.C161Y 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2C HGNC ENSG00000141934 172 0 0 206 11 5.06912 ZNF556 0 genome.wustl.edu 37 19 2877353 2877353 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 2877353 2877353 A G SNP ZNF556 ENST00000307635 human ensembl 74_37 +1 known missense c.397 p.N133D 0.000 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 ZNF556 HGNC ENSG00000172000 133 0 0 103 24 18.8976 CCNE1 0 genome.wustl.edu 37 19 30313408 30313408 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 30313408 30313408 G T SNP CCNE1 ENST00000262643 human ensembl 74_37 +1 known missense c.1008 p.M336I 1.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE1 HGNC ENSG00000105173 218 0 0 172 40 18.8679 RHPN2 0 genome.wustl.edu 37 19 33487079 33487079 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 33487079 33487079 G A SNP RHPN2 ENST00000254260 human ensembl 74_37 -1 known missense c.1273 p.R425W 0.684 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 39 0 0 40 11 21.5686 NFIC 0 genome.wustl.edu 37 19 3382066 3382066 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 3382066 3382066 G A SNP NFIC ENST00000443272 human ensembl 74_37 +1 known silent c.387 p.R129 0.985 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIC HGNC ENSG00000141905 120 0 0 93 30 24.3902 MAG 0 genome.wustl.edu 37 19 35791095 35791095 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 35791095 35791095 A T SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.758 p.E253V 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 10 0 0 10 3 23.0769 COX6B1 0 genome.wustl.edu 37 19 36149530 36149530 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 36149530 36149530 C T SNP COX6B1 ENST00000246554 human ensembl 74_37 +1 known missense c.242 p.T81M 0.975 pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B,pirsf_Cyt_c_oxidase_su6B pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B,pirsf_Cyt_c_oxidase_su6B - no_errors COX6B1 HGNC ENSG00000126267 94 0 0 88 12 12 ARHGAP33 0 genome.wustl.edu 37 19 36276343 36276343 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 36276343 36276343 G A SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.1900 p.A634T 0.725 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 115 0 0 101 26 20.4724 ARHGAP33 0 genome.wustl.edu 37 19 36277956 36277956 + Nonsense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 36277956 36277956 G T SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known nonsense c.2584 p.G862* 0.724 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 19 0 0 24 3 11.1111 PRODH2 0 genome.wustl.edu 37 19 36293120 36293120 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 36293120 36293120 T C SNP PRODH2 ENST00000301175 human ensembl 74_37 -1 known missense c.1399 p.M467V 1.000 pfam_Proline_DH pfam_Proline_DH - no_errors PRODH2 HGNC ENSG00000250799 155 1 0.641026 133 24 15.2866 APLP1 0 genome.wustl.edu 37 19 36369799 36369799 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 36369799 36369799 C T SNP APLP1 ENST00000221891 human ensembl 74_37 +1 known missense c.1658 p.A553V 0.991 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 152 0 0 163 10 5.78035 ZNF527 0 genome.wustl.edu 37 19 37871245 37871245 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 37871245 37871245 A C SNP ZNF527 ENST00000436120 human ensembl 74_37 +1 known missense c.227 p.E76A 0.008 pfscan_Krueppel-associated_box 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 ZNF527 HGNC ENSG00000189164 82 0 0 60 12 16.6667 ZFR2 0 genome.wustl.edu 37 19 3834969 3834969 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 3834969 3834969 C T SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known silent c.66 p.P22 0.000 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 18 0 0 16 6 27.2727 GGN 0 genome.wustl.edu 37 19 38876360 38876360 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 38876360 38876360 G A SNP GGN ENST00000334928 human ensembl 74_37 -1 known silent c.1542 p.P514 0.006 NULL NULL - no_errors GGN HGNC ENSG00000179168 29 0 0 19 8 29.6296 SUPT5H 0 genome.wustl.edu 37 19 39964163 39964163 + Splice_Site SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 39964163 39964163 T C SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known splice_site c.2492+2 e24+2 1.000 - - - no_errors SUPT5H HGNC ENSG00000196235 79 0 0 61 11 15.2778 PIAS4 0 genome.wustl.edu 37 19 4024034 4024034 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 4024034 4024034 T C SNP PIAS4 ENST00000262971 human ensembl 74_37 +1 known missense c.455 p.V152A 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS4 HGNC ENSG00000105229 71 0 0 50 9 15.2542 C19orf47 0 genome.wustl.edu 37 19 40832280 40832280 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 40832280 40832280 G A SNP C19orf47 ENST00000582783 human ensembl 74_37 -1 known missense c.664 p.R222C 0.983 NULL superfamily_SAM/pointed - no_errors C19orf47 HGNC ENSG00000160392 85 0 0 63 24 27.5862 SPTBN4 0 genome.wustl.edu 37 19 40993644 40993644 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 40993644 40993644 G T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.210 p.W70C 1.000 pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 76 0 0 55 10 15.3846 CYP2A13 0 genome.wustl.edu 37 19 41595958 41595958 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 41595958 41595958 C T SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.350 p.A117V 0.109 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 32 0 0 23 4 14.8148 CEACAM4 0 genome.wustl.edu 37 19 42128059 42128059 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 42128059 42128059 G T SNP CEACAM4 ENST00000221954 human ensembl 74_37 -1 known silent c.507 p.A169 0.001 NULL pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors CEACAM4 HGNC ENSG00000105352 54 0 0 36 14 28 RABAC1 0 genome.wustl.edu 37 19 42462889 42462889 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 42462889 42462889 C T SNP RABAC1 ENST00000222008 human ensembl 74_37 -1 known missense c.268 p.V90M 1.000 pfam_Prenylated_rab_accept_PRA1 pfam_Prenylated_rab_accept_PRA1 - no_errors RABAC1 HGNC ENSG00000105404 13 0 0 16 3 15.7895 ERF 0 genome.wustl.edu 37 19 42752808 42752808 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 42752808 42752808 G A SNP ERF ENST00000222329 human ensembl 74_37 -1 known missense c.1456 p.R486W 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 86 0 0 77 18 18.9474 ERF 0 genome.wustl.edu 37 19 42752834 42752834 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 42752834 42752834 C T SNP ERF ENST00000222329 human ensembl 74_37 -1 known missense c.1430 p.C477Y 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 94 0 0 92 17 15.5963 MEGF8 0 genome.wustl.edu 37 19 42848707 42848707 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 42848707 42848707 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.1903 p.V635M 1.000 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 32 0 0 20 14 41.1765 LIPE 0 genome.wustl.edu 37 19 42914843 42914843 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 42914843 42914843 C T SNP LIPE ENST00000244289 human ensembl 74_37 -1 known silent c.1035 p.A345 0.273 pfam_HSL_N pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 29 0 0 20 8 28.5714 PSG1 0 genome.wustl.edu 37 19 43372462 43372462 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 43372462 43372462 C T SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.1034 p.R345H 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 185 0 0 123 31 20.1299 SH3GL1 0 genome.wustl.edu 37 19 4361746 4361746 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 4361746 4361746 C T SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known missense c.958 p.E320K 0.999 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 52 0 0 50 18 26.4706 SH3GL1 0 genome.wustl.edu 37 19 4361778 4361778 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 4361778 4361778 G A SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known missense c.926 p.P309L 0.999 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 36 0 0 40 4 9.09091 IRGC 0 genome.wustl.edu 37 19 44223764 44223764 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 44223764 44223764 G A SNP IRGC ENST00000244314 human ensembl 74_37 +1 known missense c.1054 p.D352N 0.115 NULL pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase - no_errors IRGC HGNC ENSG00000124449 38 0 0 39 16 29.0909 CHAF1A 0 genome.wustl.edu 37 19 4428859 4428859 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 4428859 4428859 T C SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.1576 p.S526P 0.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 65 0 0 55 16 22.5352 PLIN4 0 genome.wustl.edu 37 19 4511362 4511362 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 4511362 4511362 G A SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel silent c.2568 p.T856 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 182 0 0 151 34 18.3784 PVR 0 genome.wustl.edu 37 19 45162145 45162145 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 45162145 45162145 G T SNP PVR ENST00000425690 human ensembl 74_37 +1 known missense c.1127 p.W376L 0.002 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVR HGNC ENSG00000073008 223 0 0 208 31 12.9707 BCAM 0 genome.wustl.edu 37 19 45322873 45322873 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 45322873 45322873 C T SNP BCAM ENST00000270233 human ensembl 74_37 +1 known silent c.1653 p.V551 0.999 NULL pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 40 0 0 24 10 29.4118 ZNF114 0 genome.wustl.edu 37 19 48789060 48789060 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 48789060 48789060 C T SNP ZNF114 ENST00000315849 human ensembl 74_37 +1 known missense c.179 p.P60L 0.001 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 223 1 0.446429 140 44 23.913 IZUMO1 0 genome.wustl.edu 37 19 49245072 49245072 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 49245072 49245072 G A SNP IZUMO1 ENST00000332955 human ensembl 74_37 -1 known missense c.728 p.A243V 0.998 NULL NULL - no_errors IZUMO1 HGNC ENSG00000182264 81 0 0 65 4 5.7971 SNRNP70 0 genome.wustl.edu 37 19 49601926 49601926 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 49601926 49601926 C T SNP SNRNP70 ENST00000598441 human ensembl 74_37 +1 known missense c.358 p.R120W 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP70 HGNC ENSG00000104852 211 0 0 169 34 16.7488 SNORD34 0 genome.wustl.edu 37 19 49994179 49994179 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 49994179 49994179 G A SNP SNORD34 ENST00000365633 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD34 HGNC ENSG00000202503 103 0 0 99 19 16.1017 IL4I1 0 genome.wustl.edu 37 19 50399296 50399296 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 50399296 50399296 C T SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known missense c.94 p.V32I 0.020 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 45 0 0 38 9 19.1489 NUP62 0 genome.wustl.edu 37 19 50412020 50412020 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 50412020 50412020 G A SNP NUP62 ENST00000352066 human ensembl 74_37 -1 known missense c.1045 p.R349W 1.000 pfam_Nucleoporin_NSP1_C pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 189 0 0 232 14 5.69106 KDM4B 0 genome.wustl.edu 37 19 5047640 5047640 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 5047640 5047640 T C SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.586 p.Y196H 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 108 0 0 86 13 13.1313 MYH14 0 genome.wustl.edu 37 19 50735186 50735186 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 50735186 50735186 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known splice_site c.974-1 e9-1 1.000 - - - no_errors MYH14 HGNC ENSG00000105357 45 0 0 41 8 16.3265 MYBPC2 0 genome.wustl.edu 37 19 50951604 50951604 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 50951604 50951604 G A SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known missense c.1429 p.E477K 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 188 0 0 147 35 19.2308 LRRC4B 0 genome.wustl.edu 37 19 51021132 51021132 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 51021132 51021132 C T SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1838 p.R613H 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 42 0 0 29 7 19.4444 KDM4B 0 genome.wustl.edu 37 19 5111407 5111407 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 5111407 5111407 G A SNP KDM4B ENST00000381759 human ensembl 74_37 +1 known silent c.1137 p.P379 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 74 0 0 60 11 15.493 KLK13 0 genome.wustl.edu 37 19 51561877 51561877 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 51561877 51561877 T C SNP KLK13 ENST00000595793 human ensembl 74_37 -1 known missense c.563 p.E188G 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK13 HGNC ENSG00000167759 310 0 0 270 78 22.4138 FPR2 0 genome.wustl.edu 37 19 52272775 52272775 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 52272775 52272775 C T SNP FPR2 ENST00000340023 human ensembl 74_37 +1 known silent c.864 p.S288 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 119 0 0 115 15 11.5385 ZNF616 0 genome.wustl.edu 37 19 52619216 52619216 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 52619216 52619216 G A SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known nonsense c.1201 p.R401* 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 ZNF616 HGNC ENSG00000204611 373 0 0 336 68 16.8317 ZNF808 0 genome.wustl.edu 37 19 53050886 53050886 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 53050886 53050886 C T SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known missense c.185 p.A62V 0.005 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF808 HGNC ENSG00000198482 273 0 0 211 58 21.5613 ZNF600 0 genome.wustl.edu 37 19 53269926 53269926 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 53269926 53269926 A G SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known silent c.1083 p.N361 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 336 0 0 273 69 20.1754 ZNF320 0 genome.wustl.edu 37 19 53385079 53385079 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 53385079 53385079 C T SNP ZNF320 ENST00000391781 human ensembl 74_37 -1 known silent c.300 p.Q100 0.024 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 ZNF320 HGNC ENSG00000182986 400 0 0 296 80 21.2766 ZNF765 0 genome.wustl.edu 37 19 53911017 53911017 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 53911017 53911017 A G SNP ZNF765 ENST00000396408 human ensembl 74_37 +1 known missense c.209 p.H70R 0.012 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF765 HGNC ENSG00000196417 119 0 0 97 16 14.1593 SAFB2 0 genome.wustl.edu 37 19 5587937 5587937 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 5587937 5587937 G A SNP SAFB2 ENST00000252542 human ensembl 74_37 -1 known silent c.2580 p.R860 0.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 19 0 0 18 5 21.7391 SBK2 0 genome.wustl.edu 37 19 56042650 56042650 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 56042650 56042650 C T SNP SBK2 ENST00000344158 human ensembl 74_37 -1 known missense c.316 p.E106K 0.999 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 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SBK2 HGNC ENSG00000187550 26 0 0 23 5 17.8571 ZNF71 0 genome.wustl.edu 37 19 57133126 57133126 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 57133126 57133126 G A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known silent c.471 p.P157 0.692 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 87 0 0 82 23 21.9048 ZSCAN4 0 genome.wustl.edu 37 19 58189820 58189820 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 58189820 58189820 T C SNP ZSCAN4 ENST00000318203 human ensembl 74_37 +1 known silent c.849 p.P283 0.663 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN4 HGNC ENSG00000180532 185 0 0 164 13 7.34463 ZNF497 0 genome.wustl.edu 37 19 58867595 58867595 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 58867595 58867595 G A SNP ZNF497 ENST00000311044 human ensembl 74_37 -1 known silent c.1407 p.P469 0.092 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF497 HGNC ENSG00000174586 22 0 0 8 2 20 RPS5 0 genome.wustl.edu 37 19 58904820 58904820 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 58904820 58904820 C T SNP RPS5 ENST00000196551 human ensembl 74_37 +1 known missense c.413 p.A138V 1.000 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc - no_errors RPS5 HGNC ENSG00000083845 103 0 0 91 20 18.018 ZNF324 0 genome.wustl.edu 37 19 58980635 58980635 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 58980635 58980635 G A SNP ZNF324 ENST00000196482 human ensembl 74_37 +1 known missense c.83 p.R28H 0.496 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF324 HGNC ENSG00000083812 58 0 0 54 10 15.625 MZF1 0 genome.wustl.edu 37 19 59082545 59082545 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 59082545 59082545 T C SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known missense c.212 p.Q71R 0.981 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 30 0 0 26 4 13.3333 FGF22 0 genome.wustl.edu 37 19 643535 643535 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 643535 643535 G C SNP FGF22 ENST00000586042 human ensembl 74_37 +1 putative missense c.421 p.A141P 0.024 smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam - no_errors FGF22 HGNC ENSG00000070388 15 0 0 9 2 18.1818 DENND1C 0 genome.wustl.edu 37 19 6475354 6475354 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 6475354 6475354 C T SNP DENND1C ENST00000381480 human ensembl 74_37 -1 known silent c.984 p.V328 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 33 0 0 26 4 13.3333 C3 0 genome.wustl.edu 37 19 6678248 6678248 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 6678248 6678248 T C SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.4765 p.K1589E 0.994 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 72 0 0 69 19 21.5909 C3 0 genome.wustl.edu 37 19 6690640 6690640 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 6690640 6690640 G A SNP C3 ENST00000245907 human ensembl 74_37 -1 known silent c.3489 p.N1163 0.293 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 88 0 0 85 11 11.4583 FSTL3 0 genome.wustl.edu 37 19 681536 681536 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 681536 681536 G A SNP FSTL3 ENST00000166139 human ensembl 74_37 +1 known missense c.709 p.V237M 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom - no_errors FSTL3 HGNC ENSG00000070404 20 0 0 14 5 26.3158 MUC16 0 genome.wustl.edu 37 19 9049967 9049967 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 9049967 9049967 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.31664 p.R10555M 0.018 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 321 0 0 289 17 5.55556 MUC16 0 genome.wustl.edu 37 19 9083647 9083647 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 9083647 9083647 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.8168 p.H2723R 0.097 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 192 0 0 139 41 22.7778 TAF1B 0 genome.wustl.edu 37 2 10045054 10045054 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 10045054 10045054 C T SNP TAF1B ENST00000263663 human ensembl 74_37 +1 known missense c.874 p.R292C 0.995 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 155 0 0 108 38 26.0274 RANBP2 0 genome.wustl.edu 37 2 109382947 109382947 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 109382947 109382947 T C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known silent c.5952 p.G1984 0.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 656 0 0 607 49 7.46951 PQLC3 0 genome.wustl.edu 37 2 11317996 11317996 + RNA SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 11317996 11317996 A G SNP PQLC3 ENST00000487471 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PQLC3 HGNC ENSG00000162976 72 0 0 65 11 14.4737 PSD4 0 genome.wustl.edu 37 2 113940003 113940003 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 113940003 113940003 G A SNP PSD4 ENST00000465917 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PSD4 HGNC ENSG00000125637 43 0 0 63 9 12.5 SCTR 0 genome.wustl.edu 37 2 120231031 120231031 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 120231031 120231031 G A SNP SCTR ENST00000019103 human ensembl 74_37 -1 known missense c.403 p.R135W 0.910 prints_GPCR_2_secretin_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_secretin_rcpt,prints_GPCR_2_VIP_rcpt_1 - no_errors SCTR HGNC ENSG00000080293 83 0 0 63 18 22.2222 SCTR 0 genome.wustl.edu 37 2 120236486 120236486 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 120236486 120236486 C A SNP SCTR ENST00000019103 human ensembl 74_37 -1 known missense c.202 p.G68W 0.011 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_secretin_rcpt,prints_GPCR_2_VIP_rcpt_1 - no_errors SCTR HGNC ENSG00000080293 78 0 0 70 7 9.09091 TMEM177 0 genome.wustl.edu 37 2 120439310 120439310 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 120439310 120439310 G A SNP TMEM177 ENST00000272521 human ensembl 74_37 +1 known missense c.881 p.R294H 1.000 NULL NULL - no_errors TMEM177 HGNC ENSG00000144120 148 0 0 140 11 7.28477 MBD5 0 genome.wustl.edu 37 2 149240765 149240765 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 149240765 149240765 G A SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.2605 p.V869I 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 177 0 0 135 41 23.2955 NEB 0 genome.wustl.edu 37 2 152544188 152544188 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 152544188 152544188 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.2475 p.D825 0.327 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 21 0 0 31 3 8.82353 GALNT13 0 genome.wustl.edu 37 2 155102337 155102337 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 155102337 155102337 C T SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known silent c.699 p.V233 0.999 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 251 1 0.396825 162 32 16.4948 ACVR1C 0 genome.wustl.edu 37 2 158390497 158390497 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 158390497 158390497 C T SNP ACVR1C ENST00000243349 human ensembl 74_37 -1 known missense c.1415 p.R472H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1C HGNC ENSG00000123612 151 0 0 120 37 23.5669 BAZ2B 0 genome.wustl.edu 37 2 160295638 160295638 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 160295638 160295638 C T SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.782 p.S261N 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 393 0 0 344 28 7.52688 LY75 0 genome.wustl.edu 37 2 160755441 160755441 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 160755441 160755441 A G SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.224 p.L75P 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 181 1 0.549451 154 33 17.6471 GCA 0 genome.wustl.edu 37 2 163215634 163215634 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 163215634 163215634 G T SNP GCA ENST00000437150 human ensembl 74_37 +1 known missense c.535 p.V179F 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors GCA HGNC ENSG00000115271 241 0 0 190 43 18.4549 COBLL1 0 genome.wustl.edu 37 2 165551064 165551064 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 165551064 165551064 G T SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known silent c.3153 p.A1051 0.106 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 92 0 0 89 15 14.4231 SCN3A 0 genome.wustl.edu 37 2 165986605 165986605 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 165986605 165986605 G A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.2767 p.R923W 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 319 0 0 285 24 7.76699 XIRP2 0 genome.wustl.edu 37 2 168106895 168106895 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 168106895 168106895 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.8993 p.H2998R 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 209 0 0 182 34 15.7407 LRP2 0 genome.wustl.edu 37 2 170101368 170101368 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 170101368 170101368 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.3265 p.R1089C 0.002 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 268 1 0.371747 240 40 14.2857 DYNC1I2 0 genome.wustl.edu 37 2 172583353 172583353 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 172583353 172583353 A C SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known missense c.923 p.E308A 1.000 superfamily_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 114 0 0 89 22 19.8198 CHN1 0 genome.wustl.edu 37 2 175664964 175664964 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 175664964 175664964 G A SNP CHN1 ENST00000409900 human ensembl 74_37 -1 known silent c.1260 p.I420 0.673 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC ENSG00000128656 148 0 0 130 9 6.47482 RAD51AP2 0 genome.wustl.edu 37 2 17696566 17696566 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 17696566 17696566 A G SNP RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known silent c.3117 p.N1039 0.000 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 171 0 0 153 9 5.55556 TTN 0 genome.wustl.edu 37 2 179428524 179428524 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 179428524 179428524 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.74631 p.M24877I 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 199 0 0 164 35 17.5879 TTN 0 genome.wustl.edu 37 2 179434204 179434204 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 179434204 179434204 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.68951 p.R22984Q 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 78 0 0 87 7 7.44681 TTN 0 genome.wustl.edu 37 2 179460530 179460530 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 179460530 179460530 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.49847 p.P16616L 1.000 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 19 0 0 9 3 25 TTN 0 genome.wustl.edu 37 2 179472135 179472135 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 179472135 179472135 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.45576 p.E15192D 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub 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 276 0 0 213 63 22.8261 TTN 0 genome.wustl.edu 37 2 179552924 179552924 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 179552924 179552924 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.28493 p.S9498L 0.573 superfamily_Calpain_domain_III,superfamily_RNaseH-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 253 0 0 182 38 17.2727 TTN 0 genome.wustl.edu 37 2 179605532 179605532 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 179605532 179605532 A G SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.11915 p.L3972P 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 301 0 0 270 21 7.21649 GEN1 0 genome.wustl.edu 37 2 17963171 17963171 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 17963171 17963171 C T SNP GEN1 ENST00000317402 human ensembl 74_37 +1 known missense c.2692 p.R898C 0.807 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors GEN1 HGNC ENSG00000178295 144 0 0 124 28 18.4211 MSGN1 0 genome.wustl.edu 37 2 17997959 17997959 + Silent SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 17997959 17997959 T G SNP MSGN1 ENST00000281047 human ensembl 74_37 +1 known silent c.174 p.S58 0.593 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSGN1 HGNC ENSG00000151379 132 0 0 110 26 19.1176 SESTD1 0 genome.wustl.edu 37 2 179986571 179986571 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 179986571 179986571 A T SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known missense c.1368 p.D456E 1.000 NULL superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 159 0 0 122 39 24.2236 SSFA2 0 genome.wustl.edu 37 2 182786912 182786912 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 182786912 182786912 C T SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known nonsense c.3448 p.R1150* 1.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 201 1 0.49505 184 11 5.64103 PPP1R1C 0 genome.wustl.edu 37 2 182852584 182852584 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 182852584 182852584 A G SNP PPP1R1C ENST00000409137 human ensembl 74_37 +1 known missense c.100 p.T34A 0.998 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1C HGNC ENSG00000150722 289 0 0 256 35 12.0275 NCKAP1 0 genome.wustl.edu 37 2 183822241 183822241 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 183822241 183822241 A G SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known silent c.1983 p.P661 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 243 0 0 184 62 25.2033 NT5C1B 0 genome.wustl.edu 37 2 18765855 18765855 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 18765855 18765855 G A SNP NT5C1B ENST00000406971 human ensembl 74_37 -1 known missense c.581 p.T194M 0.000 NULL NULL - no_errors NT5C1B HGNC ENSG00000185013 21 0 0 8 4 33.3333 ANKRD44 0 genome.wustl.edu 37 2 197878289 197878289 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 197878289 197878289 C T SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known missense c.1795 p.A599T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 379 0 0 275 61 18.1548 TRAK2 0 genome.wustl.edu 37 2 202272204 202272204 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 202272204 202272204 T C SNP TRAK2 ENST00000332624 human ensembl 74_37 -1 known missense c.208 p.T70A 1.000 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 103 1 0.961538 102 12 10.5263 ALS2CR11 0 genome.wustl.edu 37 2 202352372 202352372 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 202352372 202352372 T A SNP ALS2CR11 ENST00000286195 human ensembl 74_37 -1 known missense c.1835 p.H612L 0.000 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 302 0 0 226 61 21.2544 BMPR2 0 genome.wustl.edu 37 2 203384875 203384875 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 203384875 203384875 T G SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known missense c.918 p.H306Q 1.000 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 91 0 0 68 7 9.33333 NBEAL1 0 genome.wustl.edu 37 2 204045236 204045236 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 204045236 204045236 G A SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known splice_site c.6508+1 e41+1 1.000 - - - no_errors NBEAL1 HGNC ENSG00000144426 76 0 0 53 15 22.0588 NBEAL1 0 genome.wustl.edu 37 2 204075771 204075771 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 204075771 204075771 G A SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known missense c.7789 p.G2597R 1.000 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 137 0 0 101 28 21.7054 ABCA12 0 genome.wustl.edu 37 2 215823039 215823039 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 215823039 215823039 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.6079 p.V2027M 0.997 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 231 0 0 209 52 19.9234 FN1 0 genome.wustl.edu 37 2 216226782 216226782 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 216226782 216226782 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.7272 p.C2424 1.000 smart_Fibronectin_type1,pfscan_Fibronectin_type1 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 60 0 0 56 12 17.6471 FN1 0 genome.wustl.edu 37 2 216229623 216229623 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 216229623 216229623 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.7230 p.C2410 1.000 pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 9 0 0 7 3 30 FN1 0 genome.wustl.edu 37 2 216248175 216248175 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 216248175 216248175 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.4926 p.T1642 0.668 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 210 0 0 150 49 24.6231 FN1 0 genome.wustl.edu 37 2 216262429 216262429 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 216262429 216262429 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.3491 p.A1164V 0.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 257 1 0.387597 211 40 15.9363 SMARCAL1 0 genome.wustl.edu 37 2 217285159 217285159 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 217285159 217285159 C T SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known nonsense c.1000 p.R334* 0.198 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 126 0 0 103 10 8.84956 TNS1 0 genome.wustl.edu 37 2 218713378 218713378 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 218713378 218713378 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.1487 p.R496Q 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 138 0 0 108 21 16.2791 TUBA4B 0 genome.wustl.edu 37 2 220136455 220136455 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 220136455 220136455 G A SNP TUBA4B ENST00000473885 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBA4B HGNC ENSG00000243910 104 0 0 78 22 22 PAX3 0 genome.wustl.edu 37 2 223159014 223159014 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 223159014 223159014 G T SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.458 p.S153Y 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 75 0 0 61 12 16.4384 FARSB 0 genome.wustl.edu 37 2 223505594 223505594 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 223505594 223505594 A C SNP FARSB ENST00000281828 human ensembl 74_37 -1 known missense c.326 p.I109S 0.996 tigrfam_Phe-tRNA-synth_IIc_bsu_arc pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc - no_errors FARSB HGNC ENSG00000116120 62 0 0 43 11 20.3704 SCG2 0 genome.wustl.edu 37 2 224463172 224463172 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 224463172 224463172 G C SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known missense c.829 p.Q277E 0.999 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 531 0 0 436 32 6.83761 FAM124B 0 genome.wustl.edu 37 2 225265913 225265913 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 225265913 225265913 C T SNP FAM124B ENST00000409685 human ensembl 74_37 -1 known silent c.573 p.L191 1.000 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 92 0 0 87 13 13 COL4A3 0 genome.wustl.edu 37 2 228153918 228153918 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 228153918 228153918 A G SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known silent c.2934 p.P978 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 36 0 0 26 6 18.75 MFF 0 genome.wustl.edu 37 2 228211948 228211948 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 228211948 228211948 A G SNP MFF ENST00000353339 human ensembl 74_37 +1 known silent c.600 p.T200 1.000 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors MFF HGNC ENSG00000168958 207 0 0 166 45 21.327 TM4SF20 0 genome.wustl.edu 37 2 228228629 228228629 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 228228629 228228629 C T SNP TM4SF20 ENST00000304568 human ensembl 74_37 -1 known silent c.501 p.A167 0.000 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF20 HGNC ENSG00000168955 232 0 0 168 47 21.8605 PID1 0 genome.wustl.edu 37 2 229890462 229890462 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 229890462 229890462 G A SNP PID1 ENST00000354069 human ensembl 74_37 -1 known silent c.639 p.H213 0.871 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors PID1 HGNC ENSG00000153823 156 0 0 134 36 21.1765 PID1 0 genome.wustl.edu 37 2 230020592 230020592 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 230020592 230020592 G A SNP PID1 ENST00000354069 human ensembl 74_37 -1 known missense c.218 p.A73V 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors PID1 HGNC ENSG00000153823 173 0 0 146 35 19.337 SP100 0 genome.wustl.edu 37 2 231313824 231313824 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 231313824 231313824 G A SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.545 p.R182Q 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 211 0 0 169 33 16.3366 B3GNT7 0 genome.wustl.edu 37 2 232263030 232263030 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 232263030 232263030 C T SNP B3GNT7 ENST00000287590 human ensembl 74_37 +1 known silent c.600 p.Y200 0.982 pfam_Glyco_trans_31 pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT7 HGNC ENSG00000156966 96 0 0 101 29 22.3077 LINC00471 0 genome.wustl.edu 37 2 232373716 232373716 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 232373716 232373716 G A SNP LINC00471 ENST00000313064 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00471 HGNC ENSG00000181798 100 0 0 89 25 21.9298 GBX2 0 genome.wustl.edu 37 2 237074908 237074908 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 237074908 237074908 C T SNP GBX2 ENST00000306318 human ensembl 74_37 -1 known silent c.696 p.P232 0.924 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GBX2 HGNC ENSG00000168505 56 0 0 61 18 22.7848 COL6A3 0 genome.wustl.edu 37 2 238253469 238253469 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 238253469 238253469 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.7192 p.V2398I 0.287 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 179 0 0 150 25 14.2857 COL6A3 0 genome.wustl.edu 37 2 238277420 238277420 + Silent SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 238277420 238277420 C A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.4686 p.V1562 0.854 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 290 0 0 223 66 22.8374 PER2 0 genome.wustl.edu 37 2 239167156 239167156 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 239167156 239167156 C A SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.1757 p.C586F 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 81 0 0 45 11 19.6429 ENSG00000235351 0 genome.wustl.edu 37 2 242664463 242664463 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 242664463 242664463 G A SNP ENSG00000235351 ENST00000435195 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC114730.11 Clone_based_vega_gene ENSG00000235351 45 0 0 41 7 14.5833 NCOA1 0 genome.wustl.edu 37 2 24929854 24929854 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 24929854 24929854 C T SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known silent c.1515 p.N505 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 213 0 0 156 46 22.7723 NCOA1 0 genome.wustl.edu 37 2 24974860 24974860 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 24974860 24974860 C T SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.3716 p.P1239L 1.000 pfam_DUF1518,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 147 0 0 87 22 20.1835 ASXL2 0 genome.wustl.edu 37 2 25964955 25964955 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 25964955 25964955 G A SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known silent c.4251 p.C1417 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 176 0 0 142 43 23.2432 SLC5A6 0 genome.wustl.edu 37 2 27423438 27423438 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 27423438 27423438 C T SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known missense c.1774 p.D592N 0.007 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 64 0 0 46 11 19.2982 EIF2B4 0 genome.wustl.edu 37 2 27590038 27590038 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 27590038 27590038 G A SNP EIF2B4 ENST00000347454 human ensembl 74_37 -1 known missense c.916 p.R306W 0.032 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 229 1 0.434783 185 36 16.2896 FOSL2 0 genome.wustl.edu 37 2 28631709 28631709 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 28631709 28631709 G T SNP FOSL2 ENST00000264716 human ensembl 74_37 +1 known silent c.438 p.R146 1.000 pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 34 0 0 20 6 23.0769 TSSC1 0 genome.wustl.edu 37 2 3261132 3261132 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 3261132 3261132 G A SNP TSSC1 ENST00000382125 human ensembl 74_37 -1 known silent c.354 p.S118 1.000 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TSSC1 HGNC ENSG00000032389 88 0 0 63 18 22.2222 BIRC6 0 genome.wustl.edu 37 2 32800338 32800338 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 32800338 32800338 T C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known silent c.13260 p.G4420 0.672 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 345 0 0 272 33 10.8197 VIT 0 genome.wustl.edu 37 2 37035765 37035765 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 37035765 37035765 G A SNP VIT ENST00000379242 human ensembl 74_37 +1 known missense c.1540 p.V514I 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 69 0 0 68 5 6.84932 STRN 0 genome.wustl.edu 37 2 37129804 37129804 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 37129804 37129804 C T SNP STRN ENST00000263918 human ensembl 74_37 -1 known silent c.582 p.T194 1.000 NULL pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC ENSG00000115808 348 0 0 290 46 13.6905 EIF2AK2 0 genome.wustl.edu 37 2 37334430 37334430 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 37334430 37334430 G A SNP EIF2AK2 ENST00000233057 human ensembl 74_37 -1 known nonsense c.1642 p.R548* 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_dsRNA-bd_dom,superfamily_Kinase-like_dom,smart_dsRNA-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_dsRNA-bd_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EIF2AK2 HGNC ENSG00000055332 179 0 0 102 27 20.9302 CEBPZ 0 genome.wustl.edu 37 2 37454928 37454928 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 37454928 37454928 G A SNP CEBPZ ENST00000234170 human ensembl 74_37 -1 known missense c.1408 p.R470W 1.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 137 0 0 115 26 18.4397 SPTBN1 0 genome.wustl.edu 37 2 54877104 54877104 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 54877104 54877104 A T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.5555 p.D1852V 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 204 0 0 189 33 14.8649 WDPCP 0 genome.wustl.edu 37 2 63540407 63540407 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 63540407 63540407 G A SNP WDPCP ENST00000272321 human ensembl 74_37 -1 known silent c.1788 p.D596 0.997 pfam_DUF3312 pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 70 0 0 46 8 14.8148 MDH1 0 genome.wustl.edu 37 2 63824675 63824675 + Silent SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 63824675 63824675 A C SNP MDH1 ENST00000539945 human ensembl 74_37 +1 known silent c.396 p.A132 0.938 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 - no_errors MDH1 HGNC ENSG00000014641 97 0 0 76 11 12.6437 ARHGAP25 0 genome.wustl.edu 37 2 69045039 69045039 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 69045039 69045039 A G SNP ARHGAP25 ENST00000409202 human ensembl 74_37 +1 known missense c.916 p.N306D 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP25 HGNC ENSG00000163219 106 0 0 75 5 6.25 CYP26B1 0 genome.wustl.edu 37 2 72362528 72362528 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 72362528 72362528 G A SNP CYP26B1 ENST00000001146 human ensembl 74_37 -1 known silent c.450 p.S150 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC ENSG00000003137 130 0 0 127 25 16.4474 EGR4 0 genome.wustl.edu 37 2 73518651 73518651 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 73518651 73518651 C T SNP EGR4 ENST00000545030 human ensembl 74_37 -1 known silent c.1704 p.A568 0.989 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 21 0 0 15 8 34.7826 C2orf78 0 genome.wustl.edu 37 2 74043913 74043913 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 74043913 74043913 C T SNP C2orf78 ENST00000409561 human ensembl 74_37 +1 novel missense c.2563 p.R855C 0.717 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 89 0 0 94 17 15.3153 CTNNA2 0 genome.wustl.edu 37 2 80136908 80136908 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 80136908 80136908 C T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.1143 p.S381 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 61 0 0 47 8 14.5455 SFTPB 0 genome.wustl.edu 37 2 85890587 85890587 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 85890587 85890587 C T SNP SFTPB ENST00000393822 human ensembl 74_37 -1 known missense c.920 p.R307Q 0.044 superfamily_Saposin-like,pfscan_SaposinB pfam_SapB_2,pfam_SapA,pfam_SapB_1,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin - no_errors SFTPB HGNC ENSG00000168878 30 0 0 31 9 22.5 SFTPB 0 genome.wustl.edu 37 2 85894899 85894899 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 85894899 85894899 G C SNP SFTPB ENST00000393822 human ensembl 74_37 -1 known missense c.134 p.A45G 0.994 pfam_SapA,smart_SapA,pfscan_SapA,prints_Saposin pfam_SapB_2,pfam_SapA,pfam_SapB_1,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin - no_errors SFTPB HGNC ENSG00000168878 99 0 0 87 26 23.0088 POLR1A 0 genome.wustl.edu 37 2 86292506 86292506 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 86292506 86292506 C T SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known missense c.1949 p.R650Q 1.000 pfam_RNA_pol_Rpb1_3 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 174 0 0 177 40 18.4332 ANKRD36BP2 0 genome.wustl.edu 37 2 89084303 89084303 + RNA SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 89084303 89084303 T C SNP ANKRD36BP2 ENST00000393515 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 31 0 0 27 4 12.9032 ASAP2 0 genome.wustl.edu 37 2 9491025 9491025 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 9491025 9491025 G A SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known splice_site c.1111+1 e12+1 1.000 - - - no_errors ASAP2 HGNC ENSG00000151693 38 0 0 32 11 25.5814 TEKT4 0 genome.wustl.edu 37 2 95539788 95539788 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 95539788 95539788 C T SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known silent c.648 p.C216 0.997 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 105 0 0 75 15 16.6667 SNRNP200 0 genome.wustl.edu 37 2 96944058 96944058 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 96944058 96944058 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known nonsense c.5527 p.R1843* 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 133 0 0 102 25 19.685 KANSL3 0 genome.wustl.edu 37 2 97261292 97261292 + RNA SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 97261292 97261292 C A SNP KANSL3 ENST00000481986 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors KANSL3 HGNC ENSG00000114982 25 0 0 21 4 16 ANKRD23 0 genome.wustl.edu 37 2 97505471 97505471 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 97505471 97505471 C T SNP ANKRD23 ENST00000318357 human ensembl 74_37 -1 known missense c.815 p.R272Q 0.012 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD23 HGNC ENSG00000163126 24 0 0 28 8 22.2222 JAG1 0 genome.wustl.edu 37 20 10625879 10625879 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 10625879 10625879 C T SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known silent c.2139 p.T713 0.595 pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 132 0 0 109 25 18.6567 JAG1 0 genome.wustl.edu 37 20 10628735 10628735 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 10628735 10628735 A G SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known silent c.1593 p.P531 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 73 0 0 67 10 12.987 DEFB126 0 genome.wustl.edu 37 20 126315 126315 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 126315 126315 C T SNP DEFB126 ENST00000382398 human ensembl 74_37 +1 known silent c.318 p.P106 0.002 NULL NULL - no_errors DEFB126 HGNC ENSG00000125788 203 0 0 167 45 21.2264 SPTLC3 0 genome.wustl.edu 37 20 13098152 13098152 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 13098152 13098152 G A SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known splice_site c.933-1 e8-1 1.000 - - - no_errors SPTLC3 HGNC ENSG00000172296 304 0 0 235 59 20.068 XRN2 0 genome.wustl.edu 37 20 21346276 21346276 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 21346276 21346276 C G SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known missense c.2390 p.P797R 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 129 0 0 115 30 20.6897 NAPB 0 genome.wustl.edu 37 20 23377795 23377795 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 23377795 23377795 T C SNP NAPB ENST00000377026 human ensembl 74_37 -1 known missense c.209 p.K70R 1.000 NULL prints_NSF_attach - no_errors NAPB HGNC ENSG00000125814 114 0 0 98 21 17.6471 KIF3B 0 genome.wustl.edu 37 20 30897800 30897800 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 30897800 30897800 G A SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known missense c.220 p.D74N 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 165 0 0 159 33 17.1875 KIF3B 0 genome.wustl.edu 37 20 30898711 30898711 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 30898711 30898711 G T SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known missense c.1131 p.R377S 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 67 0 0 43 17 28.3333 NCOA6 0 genome.wustl.edu 37 20 33337956 33337956 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 33337956 33337956 T C SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known missense c.2042 p.K681R 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 132 0 0 101 28 21.7054 NCOA6 0 genome.wustl.edu 37 20 33345770 33345770 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 33345770 33345770 G A SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known nonsense c.781 p.Q261* 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 38 0 0 49 8 14.0351 MYH7B 0 genome.wustl.edu 37 20 33584501 33584501 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 33584501 33584501 C T SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.3332 p.T1111M 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 39 0 0 32 6 15.7895 SIGLEC1 0 genome.wustl.edu 37 20 3669851 3669851 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 3669851 3669851 C T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.5021 p.S1674N 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 319 0 0 214 58 21.3235 FAM83D 0 genome.wustl.edu 37 20 37580194 37580194 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 37580194 37580194 G A SNP FAM83D ENST00000217429 human ensembl 74_37 +1 known silent c.879 p.T293 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83D HGNC ENSG00000101447 110 0 0 84 6 6.66667 DHX35 0 genome.wustl.edu 37 20 37639048 37639048 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 37639048 37639048 G A SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known splice_site c.1347+1 e13+1 1.000 - - - no_errors DHX35 HGNC ENSG00000101452 80 0 0 69 18 20.6897 DHX35 0 genome.wustl.edu 37 20 37650575 37650575 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 37650575 37650575 C T SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known silent c.1590 p.H530 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 260 0 0 219 14 6.00858 MAVS 0 genome.wustl.edu 37 20 3846576 3846576 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 3846576 3846576 C A SNP MAVS ENST00000428216 human ensembl 74_37 +1 known missense c.1405 p.H469N 0.029 NULL NULL - no_errors MAVS HGNC ENSG00000088888 78 0 0 80 19 19.1919 PTPRT 0 genome.wustl.edu 37 20 40944615 40944615 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 40944615 40944615 C A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1887 p.K629N 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 111 0 0 111 10 8.26446 PIGT 0 genome.wustl.edu 37 20 44052984 44052984 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 44052984 44052984 G A SNP PIGT ENST00000279036 human ensembl 74_37 +1 known missense c.1363 p.E455K 1.000 pfam_PIG-T pfam_PIG-T - no_errors PIGT HGNC ENSG00000124155 84 0 0 71 13 15.4762 ZSWIM3 0 genome.wustl.edu 37 20 44506069 44506069 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 44506069 44506069 G A SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known missense c.872 p.R291Q 0.518 pfam_MULE_transposase_dom,pfam_Transposase pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 140 0 0 89 36 28.8 MMP9 0 genome.wustl.edu 37 20 44640898 44640898 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 44640898 44640898 G A SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.1120 p.A374T 1.000 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 149 0 0 136 24 15 EYA2 0 genome.wustl.edu 37 20 45811964 45811964 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 45811964 45811964 A G SNP EYA2 ENST00000327619 human ensembl 74_37 +1 known missense c.1461 p.I487M 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC ENSG00000064655 160 0 0 140 14 9.09091 TMEM189-UBE2V1 0 genome.wustl.edu 37 20 48744537 48744537 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 48744537 48744537 G A SNP TMEM189-UBE2V1 ENST00000341698 human ensembl 74_37 -1 known silent c.666 p.H222 0.386 pfam_KuaUb-conj-enz_UEV1 pfam_KuaUb-conj-enz_UEV1,pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors TMEM189-UBE2V1 HGNC ENSG00000124208 38 0 0 27 3 10 ZFP64 0 genome.wustl.edu 37 20 50701307 50701307 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 50701307 50701307 G A SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known missense c.1727 p.T576M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 60 0 0 65 17 20.7317 GNAS 0 genome.wustl.edu 37 20 57415346 57415346 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 57415346 57415346 G A SNP GNAS ENST00000313949 human ensembl 74_37 +1 known missense c.185 p.R62Q 1.000 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 95 0 0 84 13 13.4021 LRRN4 0 genome.wustl.edu 37 20 6021879 6021879 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 6021879 6021879 C T SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known missense c.2012 p.C671Y 0.961 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 19 0 0 18 4 18.1818 TAF4 0 genome.wustl.edu 37 20 60589624 60589624 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 60589624 60589624 G A SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known silent c.1500 p.P500 0.726 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 41 0 0 18 8 30.7692 LAMA5 0 genome.wustl.edu 37 20 60921226 60921226 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 60921226 60921226 A G SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.1328 p.L443P 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 32 0 0 35 5 12.5 COL9A3 0 genome.wustl.edu 37 20 61472005 61472005 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 61472005 61472005 C T SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known missense c.1976 p.P659L 0.997 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 12 0 0 5 4 44.4444 BHLHE23 0 genome.wustl.edu 37 20 61637673 61637673 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 61637673 61637673 G A SNP BHLHE23 ENST00000370346 human ensembl 74_37 -1 known missense c.406 p.R136C 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE23 HGNC ENSG00000125533 31 0 0 22 12 35.2941 CHRNA4 0 genome.wustl.edu 37 20 61981656 61981656 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 61981656 61981656 C T SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known silent c.1107 p.R369 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 31 0 0 34 7 17.0732 PRPF6 0 genome.wustl.edu 37 20 62663288 62663288 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 62663288 62663288 G A SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known missense c.2564 p.R855Q 1.000 smart_TPR_repeat pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 182 0 0 133 39 22.6744 MYT1 0 genome.wustl.edu 37 20 62871235 62871235 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 62871235 62871235 C T SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known silent c.3297 p.A1099 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 159 0 0 157 34 17.801 TPTE 0 genome.wustl.edu 37 21 10969092 10969092 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 10969092 10969092 C T SNP TPTE ENST00000361285 human ensembl 74_37 -1 known silent c.156 p.V52 0.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 297 0 0 208 36 14.7541 ANKRD20A11P 0 genome.wustl.edu 37 21 15289943 15289943 + RNA SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 15289943 15289943 T A SNP ANKRD20A11P ENST00000442192 human ensembl 74_37 -1 known rna NULL NULL 0.232 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 79 0 0 59 8 11.9403 NRIP1 0 genome.wustl.edu 37 21 16337566 16337566 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 16337566 16337566 C T SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.2948 p.G983E 0.724 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 168 0 0 127 24 15.894 NCAM2 0 genome.wustl.edu 37 21 22658687 22658687 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 22658687 22658687 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.436 p.V146I 0.979 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 152 0 0 106 8 7.01754 ADAMTS5 0 genome.wustl.edu 37 21 28337870 28337870 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 28337870 28337870 G A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.841 p.R281W 0.962 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 39 0 0 26 11 29.7297 USP16 0 genome.wustl.edu 37 21 30407165 30407165 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 30407165 30407165 G A SNP USP16 ENST00000334352 human ensembl 74_37 +1 known missense c.248 p.G83D 1.000 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 121 0 0 72 16 18.1818 EVA1C 0 genome.wustl.edu 37 21 33840140 33840140 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 33840140 33840140 G A SNP EVA1C ENST00000300255 human ensembl 74_37 +1 known silent c.618 p.E206 0.000 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom - no_errors EVA1C HGNC ENSG00000166979 82 0 0 36 20 35.7143 KCNJ6 0 genome.wustl.edu 37 21 38997732 38997732 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 38997732 38997732 T C SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known missense c.1001 p.Y334C 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 117 0 0 73 8 9.87654 HSF2BP 0 genome.wustl.edu 37 21 45076572 45076572 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 45076572 45076572 A G SNP HSF2BP ENST00000291560 human ensembl 74_37 -1 known missense c.83 p.L28P 1.000 NULL superfamily_ARM-type_fold - no_errors HSF2BP HGNC ENSG00000160207 279 0 0 153 41 21.134 TSPEAR 0 genome.wustl.edu 37 21 45947252 45947252 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 45947252 45947252 C T SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known missense c.1072 p.E358K 0.458 pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 190 0 0 121 36 22.9299 PRMT2 0 genome.wustl.edu 37 21 48071869 48071869 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 48071869 48071869 C T SNP PRMT2 ENST00000334494 human ensembl 74_37 +1 novel missense c.806 p.A269V 0.007 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 71 0 0 47 11 18.9655 GAB4 0 genome.wustl.edu 37 22 17473042 17473042 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 17473042 17473042 G T SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known missense c.199 p.L67M 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 310 0 0 246 64 20.6452 ENSG00000161103 0 genome.wustl.edu 37 22 18846098 18846098 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 18846098 18846098 G A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 44 0 0 46 4 8 ENSG00000161103 0 genome.wustl.edu 37 22 18846121 18846121 + RNA SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 18846121 18846121 C T SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 38 0 0 53 4 7.01754 DGCR2 0 genome.wustl.edu 37 22 19048348 19048348 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 19048348 19048348 G A SNP DGCR2 ENST00000545799 human ensembl 74_37 -1 known missense c.737 p.A246V 0.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,pfscan_LDrepeatLR_classA_rpt - no_errors DGCR2 HGNC ENSG00000070413 19 0 0 13 8 38.0952 DGCR14 0 genome.wustl.edu 37 22 19124850 19124850 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 19124850 19124850 C T SNP DGCR14 ENST00000252137 human ensembl 74_37 -1 known missense c.1021 p.G341S 0.993 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 239 0 0 227 50 18.0505 CLTCL1 0 genome.wustl.edu 37 22 19207438 19207438 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 19207438 19207438 C T SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.2875 p.V959I 0.973 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 169 0 0 101 40 28.3688 HIRA 0 genome.wustl.edu 37 22 19381879 19381879 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 19381879 19381879 C T SNP HIRA ENST00000263208 human ensembl 74_37 -1 known missense c.808 p.A270T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 91 0 0 94 5 5.05051 GNB1L 0 genome.wustl.edu 37 22 19808148 19808148 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 19808148 19808148 G A SNP GNB1L ENST00000329517 human ensembl 74_37 -1 known missense c.227 p.T76M 0.335 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 - no_errors GNB1L HGNC ENSG00000185838 59 0 0 50 10 16.6667 ARVCF 0 genome.wustl.edu 37 22 19960457 19960457 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 19960457 19960457 C T SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known silent c.2541 p.A847 0.620 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 181 0 0 146 25 14.6199 ARVCF 0 genome.wustl.edu 37 22 19960698 19960698 + Silent SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 19960698 19960698 C A SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known silent c.2382 p.A794 0.996 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 18 0 0 15 4 21.0526 MED15 0 genome.wustl.edu 37 22 20920907 20920907 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 20920907 20920907 C T SNP MED15 ENST00000263205 human ensembl 74_37 +1 known missense c.844 p.P282S 0.756 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 77 0 0 95 7 6.86275 TUBA3FP 0 genome.wustl.edu 37 22 21363262 21363262 + RNA SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 21363262 21363262 C T SNP TUBA3FP ENST00000292748 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors TUBA3FP HGNC ENSG00000161149 118 0 0 83 31 27.193 HIC2 0 genome.wustl.edu 37 22 21800421 21800421 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 21800421 21800421 G A SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known missense c.1237 p.G413R 0.990 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 70 0 0 89 9 9.18367 CCDC116 0 genome.wustl.edu 37 22 21988657 21988657 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 21988657 21988657 C T SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known missense c.419 p.P140L 0.903 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 132 1 0.75188 143 27 15.8824 ZNF280A 0 genome.wustl.edu 37 22 22868374 22868374 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 22868374 22868374 A G SNP ZNF280A ENST00000302097 human ensembl 74_37 -1 known silent c.1581 p.A527 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ENSG00000169548 186 0 0 148 37 20 GGT1 0 genome.wustl.edu 37 22 25016911 25016911 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 25016911 25016911 C T SNP GGT1 ENST00000248923 human ensembl 74_37 +1 known missense c.607 p.R203W 0.922 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 32 0 0 39 6 13.3333 SEZ6L 0 genome.wustl.edu 37 22 26688613 26688613 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 26688613 26688613 C T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known silent c.336 p.A112 0.001 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 35 0 0 23 4 14.8148 C1QTNF6 0 genome.wustl.edu 37 22 37578651 37578651 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 37578651 37578651 C T SNP C1QTNF6 ENST00000337843 human ensembl 74_37 -1 known silent c.414 p.P138 0.952 pfam_Collagen,smart_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC ENSG00000133466 87 0 0 59 15 20.2703 SOX10 0 genome.wustl.edu 37 22 38373997 38373997 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 38373997 38373997 C A SNP SOX10 ENST00000360880 human ensembl 74_37 -1 known missense c.574 p.G192C 0.860 NULL pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX10 HGNC ENSG00000100146 31 0 0 28 9 24.3243 PDGFB 0 genome.wustl.edu 37 22 39626130 39626130 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 39626130 39626130 C T SNP PDGFB ENST00000331163 human ensembl 74_37 -1 known missense c.560 p.R187Q 0.101 NULL pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFB HGNC ENSG00000100311 75 0 0 63 16 20.2532 MGAT3 0 genome.wustl.edu 37 22 39884756 39884756 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 39884756 39884756 G A SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known silent c.1404 p.T468 0.011 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 27 0 0 19 3 13.6364 MKL1 0 genome.wustl.edu 37 22 40814610 40814610 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 40814610 40814610 G T SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known missense c.1832 p.P611H 0.046 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 15 0 0 27 5 15.625 TOB2 0 genome.wustl.edu 37 22 41832815 41832815 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 41832815 41832815 C T SNP TOB2 ENST00000327492 human ensembl 74_37 -1 known missense c.535 p.A179T 1.000 NULL pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB2 HGNC ENSG00000183864 82 0 0 56 13 18.8406 TTLL1 0 genome.wustl.edu 37 22 43435868 43435868 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 43435868 43435868 G T SNP TTLL1 ENST00000266254 human ensembl 74_37 -1 known missense c.1186 p.L396M 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL1 HGNC ENSG00000100271 171 0 0 155 20 11.4286 EFCAB6 0 genome.wustl.edu 37 22 44011785 44011785 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 44011785 44011785 G A SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.2483 p.A828V 0.631 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 78 0 0 58 4 6.45161 PNPLA5 0 genome.wustl.edu 37 22 44287040 44287040 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 44287040 44287040 C T SNP PNPLA5 ENST00000216177 human ensembl 74_37 -1 known missense c.328 p.V110I 0.137 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC ENSG00000100341 18 0 0 16 3 15.7895 FBLN1 0 genome.wustl.edu 37 22 45970515 45970515 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 45970515 45970515 G A SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known missense c.1822 p.E608K 1.000 pirsf_Fibulin-1 pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 36 0 0 32 9 21.9512 PPARA 0 genome.wustl.edu 37 22 46631044 46631044 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 46631044 46631044 C A SNP PPARA ENST00000262735 human ensembl 74_37 +1 known missense c.1174 p.L392I 0.127 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARA HGNC ENSG00000186951 138 0 0 92 30 24.5902 CELSR1 0 genome.wustl.edu 37 22 46794456 46794456 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 46794456 46794456 C G SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.5491 p.V1831L 0.936 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 63 0 0 39 15 27.7778 BRD1 0 genome.wustl.edu 37 22 50217324 50217324 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 50217324 50217324 G A SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known silent c.642 p.D214 0.902 superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 34 0 0 34 4 10.5263 HDAC10 0 genome.wustl.edu 37 22 50686680 50686680 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 50686680 50686680 G T SNP HDAC10 ENST00000216271 human ensembl 74_37 -1 known missense c.1055 p.P352Q 0.406 NULL pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC10 HGNC ENSG00000100429 84 0 0 79 17 17.7083 PLXNB2 0 genome.wustl.edu 37 22 50714329 50714329 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 50714329 50714329 A G SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.5401 p.Y1801H 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 71 0 0 43 6 12.2449 IMPG2 0 genome.wustl.edu 37 3 100964765 100964765 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 100964765 100964765 G T SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.1424 p.S475Y 0.320 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 212 0 0 146 37 20.2186 NXPE3 0 genome.wustl.edu 37 3 101520160 101520160 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 101520160 101520160 C T SNP NXPE3 ENST00000273347 human ensembl 74_37 +1 known nonsense c.175 p.R59* 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 306 0 0 272 16 5.55556 NXPE3 0 genome.wustl.edu 37 3 101540650 101540650 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 101540650 101540650 G A SNP NXPE3 ENST00000273347 human ensembl 74_37 +1 known missense c.1532 p.R511K 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 171 0 0 135 55 28.9474 TMPRSS7 0 genome.wustl.edu 37 3 111766741 111766741 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 111766741 111766741 G A SNP TMPRSS7 ENST00000419127 human ensembl 74_37 +1 known missense c.508 p.A170T 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS7 HGNC ENSG00000176040 114 0 0 94 23 19.6581 KIAA2018 0 genome.wustl.edu 37 3 113375850 113375850 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 113375850 113375850 T C SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.4679 p.Q1560R 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 164 0 0 122 26 17.5676 KIAA1407 0 genome.wustl.edu 37 3 113753973 113753973 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 113753973 113753973 C T SNP KIAA1407 ENST00000295878 human ensembl 74_37 -1 known missense c.617 p.R206H 0.948 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 195 0 0 180 14 7.21649 ARHGAP31 0 genome.wustl.edu 37 3 119120974 119120974 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 119120974 119120974 G A SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.1375 p.D459N 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 190 0 0 144 13 8.28025 GTF2E1 0 genome.wustl.edu 37 3 120469477 120469477 + Nonsense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 120469477 120469477 T G SNP GTF2E1 ENST00000283875 human ensembl 74_37 +1 known nonsense c.78 p.Y26* 1.000 pfam_TFIIEa/SarR/Rpc3_HTH_dom pfam_TFIIEa/SarR/Rpc3_HTH_dom,pfam_TFIIE_asu_C,pfam_Znf_TFIIB,smart_TFIIE_asu - no_errors GTF2E1 HGNC ENSG00000153767 208 1 0.478469 184 10 5.15464 POLQ 0 genome.wustl.edu 37 3 121179017 121179017 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 121179017 121179017 A G SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.7032 p.H2344 0.006 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 121 0 0 99 26 20.8 POLQ 0 genome.wustl.edu 37 3 121206610 121206610 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 121206610 121206610 C T SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.5168 p.R1723H 0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 219 0 0 171 23 11.8557 GOLGB1 0 genome.wustl.edu 37 3 121411357 121411357 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 121411357 121411357 T C SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.6839 p.D2280G 1.000 smart_Leu_zip_homeo superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 178 0 0 137 8 5.51724 HSPBAP1 0 genome.wustl.edu 37 3 122512524 122512524 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 122512524 122512524 C T SNP HSPBAP1 ENST00000306103 human ensembl 74_37 -1 known missense c.4 p.A2T 0.980 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1 - no_errors HSPBAP1 HGNC ENSG00000169087 110 0 0 85 35 29.1667 SEMA5B 0 genome.wustl.edu 37 3 122646807 122646807 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 122646807 122646807 G A SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.842 p.A281V 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 111 0 0 107 10 8.54701 PPARG 0 genome.wustl.edu 37 3 12421297 12421297 + Silent SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 12421297 12421297 C A SNP PPARG ENST00000287820 human ensembl 74_37 +1 known silent c.177 p.S59 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARG HGNC ENSG00000132170 228 0 0 169 48 22.1198 KALRN 0 genome.wustl.edu 37 3 124438126 124438126 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 124438126 124438126 C T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.8770 p.R2924W 0.992 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 pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 70 0 0 69 23 25 ITGB5 0 genome.wustl.edu 37 3 124578267 124578267 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 124578267 124578267 G T SNP ITGB5 ENST00000296181 human ensembl 74_37 -1 known silent c.183 p.T61 0.525 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 87 0 0 71 21 22.8261 SLC41A3 0 genome.wustl.edu 37 3 125787084 125787084 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 125787084 125787084 G A SNP SLC41A3 ENST00000514023 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors SLC41A3 HGNC ENSG00000114544 51 0 0 54 12 18.1818 PLXNA1 0 genome.wustl.edu 37 3 126730890 126730890 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 126730890 126730890 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.2202 p.Q734 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 69 0 0 67 19 22.093 KBTBD12 0 genome.wustl.edu 37 3 127642914 127642914 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 127642914 127642914 C T SNP KBTBD12 ENST00000405109 human ensembl 74_37 +1 known missense c.1010 p.A337V 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC ENSG00000187715 205 0 0 167 36 17.734 EEFSEC 0 genome.wustl.edu 37 3 128127069 128127069 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 128127069 128127069 C T SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known silent c.1758 p.F586 0.935 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 85 0 0 74 22 22.9167 PLXND1 0 genome.wustl.edu 37 3 129290521 129290521 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 129290521 129290521 T C SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.3244 p.S1082G 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 116 0 0 76 34 30.9091 ACAD11 0 genome.wustl.edu 37 3 132324009 132324009 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 132324009 132324009 C A SNP ACAD11 ENST00000264990 human ensembl 74_37 -1 known missense c.1455 p.E485D 1.000 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 164 0 0 144 21 12.7273 CLSTN2 0 genome.wustl.edu 37 3 140251228 140251228 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 140251228 140251228 C T SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known silent c.1407 p.Y469 1.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 191 0 0 145 33 18.5393 CHST2 0 genome.wustl.edu 37 3 142840665 142840665 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 142840665 142840665 C T SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known missense c.1007 p.A336V 0.998 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 20 0 0 23 5 17.8571 GYG1 0 genome.wustl.edu 37 3 148714687 148714687 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 148714687 148714687 T C SNP GYG1 ENST00000345003 human ensembl 74_37 +1 known silent c.477 p.F159 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG1 HGNC ENSG00000163754 154 0 0 137 19 12.1795 FAM194A 0 genome.wustl.edu 37 3 150387141 150387141 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 150387141 150387141 G T SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known missense c.1441 p.L481I 1.000 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 193 0 0 147 37 20.1087 ARHGEF26 0 genome.wustl.edu 37 3 153839836 153839836 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 153839836 153839836 C T SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known missense c.55 p.R19W 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 18 0 0 26 9 25.7143 PLCH1 0 genome.wustl.edu 37 3 155282736 155282736 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 155282736 155282736 C T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.1001 p.R334Q 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 99 0 0 82 28 25.4545 MFSD1 0 genome.wustl.edu 37 3 158537447 158537447 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 158537447 158537447 C T SNP MFSD1 ENST00000415822 human ensembl 74_37 +1 known missense c.809 p.T270M 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD1 HGNC ENSG00000118855 92 0 0 64 12 15.7895 SI 0 genome.wustl.edu 37 3 164735854 164735854 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 164735854 164735854 A G SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.3424 p.Y1142H 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 115 0 0 77 22 22.2222 WDR49 0 genome.wustl.edu 37 3 167272480 167272480 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 167272480 167272480 C A SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.758 p.G253V 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 216 0 0 157 19 10.7955 SAMD7 0 genome.wustl.edu 37 3 169642898 169642898 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 169642898 169642898 A G SNP SAMD7 ENST00000335556 human ensembl 74_37 +1 known silent c.264 p.E88 0.997 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD7 HGNC ENSG00000187033 75 0 0 62 19 23.4568 SLC7A14 0 genome.wustl.edu 37 3 170201230 170201230 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 170201230 170201230 C A SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.988 p.G330W 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 202 0 0 172 24 12.2449 TNIK 0 genome.wustl.edu 37 3 170857333 170857333 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 170857333 170857333 G A SNP TNIK ENST00000436636 human ensembl 74_37 -1 known nonsense c.1345 p.R449* 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 213 0 0 183 40 17.9372 PIK3CA 0 genome.wustl.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 178916876 178916876 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.263 p.R88Q 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 212 0 0 186 24 11.4286 SOX2 0 genome.wustl.edu 37 3 181430542 181430542 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 181430542 181430542 C T SNP SOX2 ENST00000325404 human ensembl 74_37 +1 known silent c.394 p.L132 1.000 pfam_TF_SOX pfam_TF_SOX,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX2 HGNC ENSG00000181449 12 0 0 8 4 33.3333 MCF2L2 0 genome.wustl.edu 37 3 183017896 183017896 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 183017896 183017896 C T SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known missense c.1202 p.R401Q 0.983 smart_Spectrin/alpha-actinin pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 156 0 0 71 30 29.703 TPRG1 0 genome.wustl.edu 37 3 189028328 189028328 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 189028328 189028328 G T SNP TPRG1 ENST00000345063 human ensembl 74_37 +1 known missense c.633 p.K211N 1.000 NULL pfam_Inositol_phosphatase - no_errors TPRG1 HGNC ENSG00000188001 208 0 0 158 26 14.1304 GP5 0 genome.wustl.edu 37 3 194118298 194118298 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 194118298 194118298 G A SNP GP5 ENST00000323007 human ensembl 74_37 -1 known silent c.714 p.F238 0.814 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 275 0 0 200 42 17.3554 ACAP2 0 genome.wustl.edu 37 3 195022892 195022892 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 195022892 195022892 C G SNP ACAP2 ENST00000326793 human ensembl 74_37 -1 known missense c.1128 p.K376N 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 303 0 0 198 65 24.7148 MUC4 0 genome.wustl.edu 37 3 195497165 195497165 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 195497165 195497165 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.13320 p.N4440 0.000 smart_Nidogen_extracell_dom pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 82 0 0 53 25 32.0513 KCNH8 0 genome.wustl.edu 37 3 19575324 19575324 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 19575324 19575324 G A SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known silent c.3057 p.T1019 0.001 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 458 0 0 399 22 5.22565 LRCH3 0 genome.wustl.edu 37 3 197547200 197547200 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 197547200 197547200 T C SNP LRCH3 ENST00000438796 human ensembl 74_37 +1 known missense c.539 p.V180A 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC ENSG00000186001 139 0 0 113 22 16.2963 TOP2B 0 genome.wustl.edu 37 3 25650830 25650830 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 25650830 25650830 T C SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.3937 p.R1313G 1.000 NULL pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 17 0 0 18 4 18.1818 TOP2B 0 genome.wustl.edu 37 3 25668765 25668765 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 25668765 25668765 T A SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.1929 p.K643N 1.000 superfamily_Topo_IIA_like_dom,smart_Topo_IIA,prints_TopoII_euk,prints_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 246 0 0 178 49 21.5859 RBMS3 0 genome.wustl.edu 37 3 29938929 29938929 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 29938929 29938929 C T SNP RBMS3 ENST00000383767 human ensembl 74_37 +1 known missense c.851 p.T284M 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS3 HGNC ENSG00000144642 251 0 0 222 38 14.6154 TRIM71 0 genome.wustl.edu 37 3 32932817 32932817 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 32932817 32932817 G A SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known silent c.2121 p.A707 0.041 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 72 0 0 58 16 21.6216 CLASP2 0 genome.wustl.edu 37 3 33543196 33543196 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 33543196 33543196 G A SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.4403 p.A1468V 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 158 0 0 131 20 13.245 CLASP2 0 genome.wustl.edu 37 3 33729800 33729800 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 33729800 33729800 C T SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.439 p.V147M 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 17 0 0 15 4 21.0526 TRANK1 0 genome.wustl.edu 37 3 36874710 36874710 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 36874710 36874710 C T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.6232 p.V2078M 1.000 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 76 0 0 48 12 20 TRANK1 0 genome.wustl.edu 37 3 36897192 36897192 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 36897192 36897192 A G SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.3889 p.Y1297H 0.998 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 393 0 0 326 77 19.1067 LRRFIP2 0 genome.wustl.edu 37 3 37162993 37162993 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 37162993 37162993 C T SNP LRRFIP2 ENST00000336686 human ensembl 74_37 -1 known missense c.320 p.G107D 1.000 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 101 0 0 83 5 5.68182 GOLGA4 0 genome.wustl.edu 37 3 37292888 37292888 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 37292888 37292888 G A SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known silent c.75 p.A25 0.840 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 84 0 0 88 10 10.2041 VILL 0 genome.wustl.edu 37 3 38037234 38037234 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 38037234 38037234 A G SNP VILL ENST00000283713 human ensembl 74_37 +1 known missense c.346 p.R116G 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 93 0 0 74 15 16.8539 SCN5A 0 genome.wustl.edu 37 3 38601896 38601896 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 38601896 38601896 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.3987 p.G1329 0.990 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 53 0 0 42 6 12.5 SCN5A 0 genome.wustl.edu 37 3 38608015 38608015 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 38608015 38608015 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.3725 p.A1242V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 167 1 0.595238 138 36 20.6897 SCN5A 0 genome.wustl.edu 37 3 38620974 38620974 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 38620974 38620974 G C SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.3241 p.P1081A 0.994 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 21 0 0 21 7 25 SCN5A 0 genome.wustl.edu 37 3 38639229 38639229 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 38639229 38639229 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.2253 p.V751 0.994 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 86 0 0 83 25 23.1481 SCN10A 0 genome.wustl.edu 37 3 38739639 38739639 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 38739639 38739639 T C SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.5072 p.D1691G 0.999 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 106 0 0 71 21 22.8261 CX3CR1 0 genome.wustl.edu 37 3 39307753 39307753 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 39307753 39307753 G A SNP CX3CR1 ENST00000358309 human ensembl 74_37 -1 known missense c.344 p.T115I 0.240 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC ENSG00000168329 165 0 0 178 11 5.82011 MYRIP 0 genome.wustl.edu 37 3 40251387 40251387 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 40251387 40251387 C T SNP MYRIP ENST00000302541 human ensembl 74_37 +1 known missense c.1708 p.R570W 0.019 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MYRIP HGNC ENSG00000170011 116 0 0 99 28 22.0472 NKTR 0 genome.wustl.edu 37 3 42678379 42678379 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 42678379 42678379 A T SNP NKTR ENST00000232978 human ensembl 74_37 +1 known missense c.1183 p.S395C 0.999 NULL 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 188 0 0 128 22 14.6667 HHATL 0 genome.wustl.edu 37 3 42740589 42740589 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 42740589 42740589 C T SNP HHATL ENST00000310417 human ensembl 74_37 -1 known missense c.223 p.V75I 0.004 NULL pfam_MBOAT_fam - no_errors HHATL HGNC ENSG00000010282 86 0 0 79 22 21.7822 CHL1 0 genome.wustl.edu 37 3 439979 439979 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 439979 439979 C T SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.3164 p.P1055L 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 123 0 0 95 6 5.94059 ZKSCAN7 0 genome.wustl.edu 37 3 44612251 44612251 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 44612251 44612251 C A SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.1649 p.P550H 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 209 0 0 165 42 20.2899 FYCO1 0 genome.wustl.edu 37 3 46008705 46008705 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 46008705 46008705 G A SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known silent c.2121 p.G707 0.000 superfamily_Prefoldin pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 296 1 0.3367 260 22 7.80142 LTF 0 genome.wustl.edu 37 3 46482949 46482949 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 46482949 46482949 C T SNP LTF ENST00000231751 human ensembl 74_37 -1 known missense c.1681 p.V561I 0.996 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC ENSG00000012223 183 0 0 110 39 26.1745 SCAP 0 genome.wustl.edu 37 3 47462130 47462130 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 47462130 47462130 A T SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.1477 p.S493T 0.994 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 55 0 0 31 11 26.1905 SCAP 0 genome.wustl.edu 37 3 47467488 47467488 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 47467488 47467488 C T SNP SCAP ENST00000265565 human ensembl 74_37 -1 known silent c.909 p.T303 0.840 pfam_Patched,pfscan_SSD pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 45 0 0 37 5 11.9048 CSPG5 0 genome.wustl.edu 37 3 47619165 47619165 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 47619165 47619165 G A SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known silent c.351 p.S117 0.987 pfam_Chon_Sulph_att pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 69 0 0 54 24 30.7692 COL7A1 0 genome.wustl.edu 37 3 48621735 48621735 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 48621735 48621735 A G SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.4193 p.M1398T 0.428 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 27 0 0 36 7 16.2791 CELSR3 0 genome.wustl.edu 37 3 48698284 48698284 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 48698284 48698284 A G SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.1784 p.I595T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 63 0 0 51 8 13.5593 CCDC71 0 genome.wustl.edu 37 3 49201445 49201445 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 49201445 49201445 C T SNP CCDC71 ENST00000321895 human ensembl 74_37 -1 known missense c.197 p.R66H 1.000 NULL NULL - no_errors CCDC71 HGNC ENSG00000177352 128 0 0 94 27 22.314 KLHDC8B 0 genome.wustl.edu 37 3 49212181 49212181 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 49212181 49212181 G A SNP KLHDC8B ENST00000332780 human ensembl 74_37 +1 known missense c.548 p.R183H 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8B HGNC ENSG00000185909 49 0 0 29 8 21.6216 USP4 0 genome.wustl.edu 37 3 49332009 49332009 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 49332009 49332009 C T SNP USP4 ENST00000265560 human ensembl 74_37 -1 known missense c.1714 p.V572M 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP4 HGNC ENSG00000114316 86 0 0 82 15 15.4639 AMT 0 genome.wustl.edu 37 3 49457336 49457336 + RNA SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 49457336 49457336 A G SNP AMT ENST00000480957 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AMT HGNC ENSG00000145020 32 0 0 33 8 19.5122 DAG1 0 genome.wustl.edu 37 3 49548116 49548116 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 49548116 49548116 T C SNP DAG1 ENST00000308775 human ensembl 74_37 +1 known missense c.149 p.M50T 1.000 NULL pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 66 0 0 64 20 23.8095 APEH 0 genome.wustl.edu 37 3 49713595 49713595 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 49713595 49713595 C T SNP APEH ENST00000296456 human ensembl 74_37 +1 known silent c.549 p.D183 0.004 NULL pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro - no_errors APEH HGNC ENSG00000164062 89 0 0 65 17 20.7317 MST1 0 genome.wustl.edu 37 3 49723549 49723549 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 49723549 49723549 G A SNP MST1 ENST00000449682 human ensembl 74_37 -1 known missense c.1093 p.R365C 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 14 0 0 18 3 14.2857 RBM5 0 genome.wustl.edu 37 3 50155809 50155809 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 50155809 50155809 G A SNP RBM5 ENST00000347869 human ensembl 74_37 +1 known missense c.2368 p.A790T 0.970 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 48 0 0 45 4 8.16327 VPRBP 0 genome.wustl.edu 37 3 51458110 51458110 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 51458110 51458110 G T SNP VPRBP ENST00000335891 human ensembl 74_37 -1 known silent c.967 p.R323 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 149 0 0 125 41 24.6988 STAB1 0 genome.wustl.edu 37 3 52551965 52551965 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 52551965 52551965 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known silent c.4707 p.C1569 0.035 superfamily_FAS1_domain,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 104 0 0 77 20 20.6186 PDHB 0 genome.wustl.edu 37 3 58414314 58414314 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 58414314 58414314 T C SNP PDHB ENST00000302746 human ensembl 74_37 -1 known missense c.820 p.M274V 0.998 pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors PDHB HGNC ENSG00000168291 122 0 0 92 26 22.0339 ENSG00000244383 0 genome.wustl.edu 37 3 58619877 58619877 + RNA SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 58619877 58619877 C T SNP ENSG00000244383 ENST00000464125 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-475O23.3 Clone_based_vega_gene ENSG00000244383 21 0 0 32 6 15.7895 CADPS 0 genome.wustl.edu 37 3 62423862 62423862 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 62423862 62423862 C T SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.3694 p.A1232T 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 56 0 0 71 6 7.79221 PRICKLE2 0 genome.wustl.edu 37 3 64133159 64133159 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 64133159 64133159 C T SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.1007 p.R336H 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 216 0 0 192 53 21.6327 EPHA3 0 genome.wustl.edu 37 3 89259309 89259309 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 89259309 89259309 T C SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known silent c.453 p.S151 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom 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_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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 - no_errors EPHA3 HGNC ENSG00000044524 321 0 0 247 53 17.6667 FGFRL1 0 genome.wustl.edu 37 4 1017838 1017838 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 1017838 1017838 G A SNP FGFRL1 ENST00000264748 human ensembl 74_37 +1 known missense c.667 p.V223M 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FGFRL1 HGNC ENSG00000127418 12 0 0 10 4 28.5714 ENPEP 0 genome.wustl.edu 37 4 111397859 111397859 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 111397859 111397859 G A SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known missense c.289 p.V97I 0.006 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 170 0 0 156 41 20.8122 NDST3 0 genome.wustl.edu 37 4 118975701 118975701 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 118975701 118975701 A G SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known silent c.636 p.K212 0.975 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 364 0 0 279 65 18.8953 PRSS12 0 genome.wustl.edu 37 4 119237471 119237471 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 119237471 119237471 G A SNP PRSS12 ENST00000296498 human ensembl 74_37 -1 known silent c.1158 p.V386 0.994 superfamily_Srcr_rcpt-rel pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 94 0 0 83 18 17.8218 EXOSC9 0 genome.wustl.edu 37 4 122731160 122731160 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 122731160 122731160 G A SNP EXOSC9 ENST00000379663 human ensembl 74_37 +1 known missense c.644 p.R215H 1.000 pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2 pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC ENSG00000123737 258 1 0.3861 214 42 16.4062 KIAA1109 0 genome.wustl.edu 37 4 123171679 123171679 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 123171679 123171679 G A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.5873 p.R1958Q 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 180 0 0 140 26 15.6627 FAT4 0 genome.wustl.edu 37 4 126328095 126328095 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 126328095 126328095 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5368 p.D1790N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 302 1 0.330033 192 61 24.1107 PCDH10 0 genome.wustl.edu 37 4 134072881 134072881 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 134072881 134072881 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1586 p.R529H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 129 0 0 98 31 24.031 NAA15 0 genome.wustl.edu 37 4 140275179 140275179 + Splice_Site SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 140275179 140275179 G T SNP NAA15 ENST00000296543 human ensembl 74_37 +1 known splice_site c.1015-1 e10-1 1.000 - - - no_errors NAA15 HGNC ENSG00000164134 170 0 0 131 41 23.8372 ARHGAP10 0 genome.wustl.edu 37 4 148984398 148984398 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 148984398 148984398 G A SNP ARHGAP10 ENST00000336498 human ensembl 74_37 +1 known silent c.2127 p.S709 0.000 superfamily_SH3_domain pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP10 HGNC ENSG00000071205 100 0 0 79 20 20.202 DCLK2 0 genome.wustl.edu 37 4 151169505 151169505 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 151169505 151169505 G A SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known missense c.1975 p.A659T 1.000 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 pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 122 0 0 145 8 5.22876 TIGD4 0 genome.wustl.edu 37 4 153691221 153691221 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 153691221 153691221 A G SNP TIGD4 ENST00000304337 human ensembl 74_37 -1 known silent c.936 p.S312 1.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC ENSG00000169989 254 0 0 253 27 9.64286 ZNF718 0 genome.wustl.edu 37 4 155880 155880 + RNA SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 155880 155880 C A SNP ZNF718 ENST00000400172 human ensembl 74_37 +1 known rna NULL NULL 0.347 - - - no_errors ZNF718 HGNC ENSG00000250312 32 0 0 23 6 20.6897 GRIA2 0 genome.wustl.edu 37 4 158224771 158224771 + Silent SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 158224771 158224771 C A SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known silent c.297 p.T99 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 241 0 0 231 17 6.85484 LDB2 0 genome.wustl.edu 37 4 16900030 16900030 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 16900030 16900030 G A SNP LDB2 ENST00000304523 human ensembl 74_37 -1 known nonsense c.79 p.Q27* 1.000 NULL NULL - no_errors LDB2 HGNC ENSG00000169744 155 0 0 154 10 6.09756 PRIMPOL 0 genome.wustl.edu 37 4 185599425 185599425 + Nonsense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 185599425 185599425 C A SNP PRIMPOL ENST00000314970 human ensembl 74_37 +1 known nonsense c.884 p.S295* 1.000 pfam_DNA_primase_S pfam_DNA_primase_UL52/UL70_Herpvir,pfam_DNA_primase_S - no_errors PRIMPOL HGNC ENSG00000164306 53 0 0 45 11 19.6429 WHSC1 0 genome.wustl.edu 37 4 1962797 1962797 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 1962797 1962797 C T SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known silent c.3291 p.I1097 0.144 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 192 0 0 161 43 21.0784 SLIT2 0 genome.wustl.edu 37 4 20620460 20620460 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 20620460 20620460 C G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.4418 p.T1473R 0.992 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 108 0 0 88 23 20.7207 GPR125 0 genome.wustl.edu 37 4 22415322 22415322 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 22415322 22415322 C T SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known missense c.1925 p.R642H 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 111 1 0.892857 112 29 20.5674 PPARGC1A 0 genome.wustl.edu 37 4 23830129 23830129 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 23830129 23830129 G A SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known silent c.651 p.N217 0.991 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 381 0 0 270 72 21.0526 ADD1 0 genome.wustl.edu 37 4 2899982 2899982 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 2899982 2899982 T C SNP ADD1 ENST00000264758 human ensembl 74_37 +1 known silent c.813 p.H271 0.991 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 149 0 0 142 9 5.96026 FAM114A1 0 genome.wustl.edu 37 4 38910256 38910256 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 38910256 38910256 T C SNP FAM114A1 ENST00000358869 human ensembl 74_37 +1 known missense c.701 p.I234T 1.000 pfam_DUF719 pfam_DUF719 - no_errors FAM114A1 HGNC ENSG00000197712 119 0 0 81 18 18.1818 FAM114A1 0 genome.wustl.edu 37 4 38910296 38910296 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 38910296 38910296 G A SNP FAM114A1 ENST00000358869 human ensembl 74_37 +1 known silent c.741 p.P247 0.347 pfam_DUF719 pfam_DUF719 - no_errors FAM114A1 HGNC ENSG00000197712 114 0 0 94 6 6 KLHL5 0 genome.wustl.edu 37 4 39104951 39104951 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 39104951 39104951 A G SNP KLHL5 ENST00000359687 human ensembl 74_37 +1 known missense c.1483 p.T495A 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL5 HGNC ENSG00000109790 56 0 0 52 7 11.8644 UGDH 0 genome.wustl.edu 37 4 39512462 39512462 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 39512462 39512462 G T SNP UGDH ENST00000316423 human ensembl 74_37 -1 known missense c.284 p.T95N 1.000 pfam_UDP-Glc/GDP-Man_DH_N,tigrfam_UDP-Glc/GDP-Man pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man - no_errors UGDH HGNC ENSG00000109814 209 0 0 150 41 21.466 LIMCH1 0 genome.wustl.edu 37 4 41691639 41691639 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 41691639 41691639 T C SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.4262 p.I1421T 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 175 0 0 142 27 15.9763 DCAF4L1 0 genome.wustl.edu 37 4 41984149 41984149 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 41984149 41984149 G T SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known missense c.340 p.V114L 0.980 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 140 0 0 112 25 18.2482 KCTD8 0 genome.wustl.edu 37 4 44450166 44450166 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 44450166 44450166 G A SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known silent c.375 p.P125 0.909 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 26 0 0 26 5 16.129 FIP1L1 0 genome.wustl.edu 37 4 54244047 54244047 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 54244047 54244047 C T SNP FIP1L1 ENST00000337488 human ensembl 74_37 +1 known silent c.42 p.S14 1.000 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 9 0 0 12 5 29.4118 GSX2 0 genome.wustl.edu 37 4 54967794 54967794 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 54967794 54967794 C T SNP GSX2 ENST00000326902 human ensembl 74_37 +1 known missense c.620 p.T207M 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GSX2 HGNC ENSG00000180613 115 0 0 107 21 16.4062 KIT 0 genome.wustl.edu 37 4 55569973 55569973 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 55569973 55569973 G A SNP KIT ENST00000288135 human ensembl 74_37 +1 known silent c.840 p.A280 0.794 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 256 0 0 192 49 20.332 EVC 0 genome.wustl.edu 37 4 5785435 5785435 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 5785435 5785435 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.1720 p.R574C 0.983 NULL NULL - no_errors EVC HGNC ENSG00000072840 63 0 0 49 18 26.8657 EVC 0 genome.wustl.edu 37 4 5806514 5806514 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 5806514 5806514 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.2507 p.S836L 0.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 76 0 0 67 12 15.1899 C4orf50 0 genome.wustl.edu 37 4 5982061 5982061 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 5982061 5982061 C T SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known missense c.1430 p.R477Q 0.008 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 32 0 0 17 5 22.7273 MRFAP1L1 0 genome.wustl.edu 37 4 6711156 6711156 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 6711156 6711156 G C SNP MRFAP1L1 ENST00000320848 human ensembl 74_37 -1 known missense c.201 p.I67M 0.297 NULL NULL - no_errors MRFAP1L1 HGNC ENSG00000178988 164 0 0 162 29 15.1832 KIAA0232 0 genome.wustl.edu 37 4 6864819 6864819 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 6864819 6864819 T A SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known missense c.2710 p.S904T 0.756 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 128 0 0 105 13 11.0169 TMPRSS11A 0 genome.wustl.edu 37 4 68812182 68812182 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 68812182 68812182 T C SNP TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known missense c.119 p.H40R 0.874 pirsf_Pept_S1A_HAT/DESC1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 69 0 0 68 20 22.7273 SULT1E1 0 genome.wustl.edu 37 4 70719960 70719960 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 70719960 70719960 G A SNP SULT1E1 ENST00000226444 human ensembl 74_37 -1 known missense c.344 p.A115V 0.004 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1E1 HGNC ENSG00000109193 130 0 0 103 12 10.4348 AMBN 0 genome.wustl.edu 37 4 71472342 71472342 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 71472342 71472342 C T SNP AMBN ENST00000322937 human ensembl 74_37 +1 known silent c.1239 p.T413 0.000 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 122 0 0 128 7 5.18519 SLC4A4 0 genome.wustl.edu 37 4 72338444 72338444 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 72338444 72338444 C T SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known missense c.1660 p.R554C 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 440 0 0 307 74 19.4226 SORCS2 0 genome.wustl.edu 37 4 7666180 7666180 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 7666180 7666180 C T SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known silent c.1053 p.D351 0.975 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 25 0 0 27 4 12.9032 NAAA 0 genome.wustl.edu 37 4 76836121 76836121 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 76836121 76836121 G A SNP NAAA ENST00000286733 human ensembl 74_37 -1 known missense c.1016 p.T339M 0.997 pirsf_Acid_ceramidase-like pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like - no_errors NAAA HGNC ENSG00000138744 181 0 0 145 30 17.1429 GK2 0 genome.wustl.edu 37 4 80329115 80329115 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 80329115 80329115 A G SNP GK2 ENST00000358842 human ensembl 74_37 -1 known silent c.240 p.I80 0.991 pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 356 0 0 276 66 19.2982 PRDM8 0 genome.wustl.edu 37 4 81123201 81123201 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 81123201 81123201 C T SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known silent c.585 p.G195 0.805 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 70 0 0 80 21 20.7921 RASGEF1B 0 genome.wustl.edu 37 4 82355838 82355838 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 82355838 82355838 A G SNP RASGEF1B ENST00000264400 human ensembl 74_37 -1 known silent c.1155 p.N385 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1B HGNC ENSG00000138670 61 0 0 34 13 27.6596 ACOX3 0 genome.wustl.edu 37 4 8411994 8411994 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 8411994 8411994 G A SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known missense c.632 p.A211V 0.999 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 94 0 0 78 29 27.1028 WDFY3 0 genome.wustl.edu 37 4 85609395 85609395 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 85609395 85609395 G A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.9387 p.T3129 0.648 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 91 0 0 99 22 18.1818 WDFY3 0 genome.wustl.edu 37 4 85722917 85722917 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 85722917 85722917 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.2708 p.R903Q 0.991 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 133 0 0 92 29 23.9669 C4orf36 0 genome.wustl.edu 37 4 87808959 87808959 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 87808959 87808959 A G SNP C4orf36 ENST00000295898 human ensembl 74_37 -1 known missense c.308 p.L103P 0.206 NULL NULL - no_errors C4orf36 HGNC ENSG00000163633 117 0 0 91 24 20.8696 AFF1 0 genome.wustl.edu 37 4 87968255 87968255 + Nonsense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 87968255 87968255 G T SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known nonsense c.568 p.G190* 0.020 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 204 0 0 137 39 22.1591 DSPP 0 genome.wustl.edu 37 4 88533595 88533595 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 88533595 88533595 C A SNP DSPP ENST00000282478 human ensembl 74_37 +1 known missense c.257 p.A86E 0.166 NULL NULL - no_errors DSPP HGNC ENSG00000152591 52 0 0 37 7 15.9091 MMRN1 0 genome.wustl.edu 37 4 90830464 90830464 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 90830464 90830464 A G SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.661 p.T221A 0.961 pfam_EMI_domain,pfscan_EMI_domain pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 176 1 0.564972 130 25 16.129 SMARCAD1 0 genome.wustl.edu 37 4 95199819 95199819 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 95199819 95199819 C T SNP SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known missense c.2231 p.S744L 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 226 0 0 175 37 17.4528 METAP1 0 genome.wustl.edu 37 4 99962266 99962266 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 99962266 99962266 G A SNP METAP1 ENST00000296411 human ensembl 74_37 +1 known missense c.505 p.A169T 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1 HGNC ENSG00000164024 45 0 0 28 6 17.6471 CCT5 0 genome.wustl.edu 37 5 10264815 10264815 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 10264815 10264815 C T SNP CCT5 ENST00000280326 human ensembl 74_37 +1 known nonsense c.1546 p.Q516* 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC ENSG00000150753 262 0 0 211 49 18.8462 TSLP 0 genome.wustl.edu 37 5 110409325 110409325 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 110409325 110409325 A G SNP TSLP ENST00000344895 human ensembl 74_37 +1 known silent c.333 p.P111 0.038 NULL NULL - no_errors TSLP HGNC ENSG00000145777 166 0 0 142 22 13.4146 FAM170A 0 genome.wustl.edu 37 5 118970280 118970280 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 118970280 118970280 G A SNP FAM170A ENST00000515256 human ensembl 74_37 +1 known silent c.837 p.E279 0.274 NULL NULL - no_errors FAM170A HGNC ENSG00000164334 201 0 0 181 51 21.9828 SRFBP1 0 genome.wustl.edu 37 5 121309939 121309939 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 121309939 121309939 C T SNP SRFBP1 ENST00000339397 human ensembl 74_37 +1 known nonsense c.85 p.R29* 1.000 NULL pfam_Bud-site_select_BUD22 - no_errors SRFBP1 HGNC ENSG00000151304 96 0 0 55 8 12.6984 ZNF474 0 genome.wustl.edu 37 5 121488306 121488306 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 121488306 121488306 C T SNP ZNF474 ENST00000296600 human ensembl 74_37 +1 known silent c.621 p.G207 0.000 NULL pfscan_Znf_C2H2 - no_errors ZNF474 HGNC ENSG00000164185 124 0 0 99 16 13.913 FBN2 0 genome.wustl.edu 37 5 127728848 127728848 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 127728848 127728848 C T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.1445 p.G482E 1.000 pirsf_FBN pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 157 0 0 144 28 16.2791 SLC22A5 0 genome.wustl.edu 37 5 131726528 131726528 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 131726528 131726528 G A SNP SLC22A5 ENST00000435065 human ensembl 74_37 +1 known missense c.1271 p.R424H 0.997 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A5 HGNC ENSG00000197375 105 0 0 97 22 18.4874 PHF15 0 genome.wustl.edu 37 5 133914938 133914938 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 133914938 133914938 T C SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known silent c.2304 p.G768 0.224 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 49 0 0 51 18 26.087 PITX1 0 genome.wustl.edu 37 5 134364597 134364597 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 134364597 134364597 C T SNP PITX1 ENST00000265340 human ensembl 74_37 -1 known missense c.817 p.V273I 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX1 HGNC ENSG00000069011 38 0 0 24 6 20 KDM3B 0 genome.wustl.edu 37 5 137715371 137715371 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 137715371 137715371 C T SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.679 p.R227C 0.997 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 152 0 0 124 27 17.8808 DNAH5 0 genome.wustl.edu 37 5 13786321 13786321 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 13786321 13786321 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.8787 p.V2929 0.999 superfamily_P-loop_NTPase 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 DNAH5 HGNC ENSG00000039139 80 0 0 55 14 20.2899 PSD2 0 genome.wustl.edu 37 5 139193918 139193918 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 139193918 139193918 C T SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known missense c.985 p.R329C 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 48 0 0 56 9 13.8462 PCDHA4 0 genome.wustl.edu 37 5 140186806 140186806 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140186806 140186806 C T SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.34 p.R12W 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 213 0 0 168 40 19.2308 PCDHA6 0 genome.wustl.edu 37 5 140207942 140207942 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140207942 140207942 G A SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.266 p.R89Q 0.360 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 341 0 0 268 72 21.1765 PCDHA6 0 genome.wustl.edu 37 5 140208825 140208825 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140208825 140208825 G A SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.1149 p.G383 0.748 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 PCDHA6 HGNC ENSG00000081842 352 0 0 273 75 21.5517 PCDHA7 0 genome.wustl.edu 37 5 140215089 140215089 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140215089 140215089 T C SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1121 p.V374A 0.540 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 PCDHA7 HGNC ENSG00000204963 224 0 0 188 39 17.1806 PCDHA11 0 genome.wustl.edu 37 5 140248987 140248987 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140248987 140248987 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.299 p.A100V 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 327 0 0 328 18 5.20231 PCDHA11 0 genome.wustl.edu 37 5 140249919 140249919 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140249919 140249919 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1231 p.A411T 0.000 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 PCDHA11 HGNC ENSG00000249158 201 0 0 154 41 21.0256 PCDHAC1 0 genome.wustl.edu 37 5 140306856 140306856 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140306856 140306856 G A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.379 p.G127S 0.001 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 77 0 0 63 18 22.2222 PCDHAC2 0 genome.wustl.edu 37 5 140347356 140347356 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140347356 140347356 G A SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known silent c.1005 p.V335 0.984 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 48 0 0 53 14 20.8955 PCDHB5 0 genome.wustl.edu 37 5 140517107 140517107 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140517107 140517107 G A SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.2091 p.S697 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 202 0 0 172 50 22.5225 PCDHB6 0 genome.wustl.edu 37 5 140531423 140531423 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140531423 140531423 G A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1585 p.V529M 0.919 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 104 0 0 90 31 25.6198 PCDHB6 0 genome.wustl.edu 37 5 140531506 140531506 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140531506 140531506 G A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known silent c.1668 p.S556 0.930 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 82 0 0 73 20 21.5054 ENSG00000255622 0 genome.wustl.edu 37 5 140537175 140537175 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140537175 140537175 C T SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known silent c.1599 p.G533 0.494 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 65 0 0 66 21 24.1379 PCDHB8 0 genome.wustl.edu 37 5 140559225 140559225 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140559225 140559225 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1610 p.R537H 0.011 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 192 0 0 198 32 13.913 PCDHB12 0 genome.wustl.edu 37 5 140589745 140589745 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140589745 140589745 C T SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.1266 p.T422 0.005 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 101 0 0 110 8 6.77966 PCDHB14 0 genome.wustl.edu 37 5 140605165 140605165 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140605165 140605165 G A SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known silent c.2088 p.S696 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 206 1 0.483092 179 45 20.0893 PCDHGB2 0 genome.wustl.edu 37 5 140740782 140740782 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140740782 140740782 G A SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known silent c.1080 p.S360 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 138 0 0 95 17 15.1786 PCDHGA8 0 genome.wustl.edu 37 5 140772638 140772638 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140772638 140772638 C T SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known silent c.258 p.T86 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 68 0 0 60 4 6.25 PCDHGA10 0 genome.wustl.edu 37 5 140793360 140793360 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140793360 140793360 C T SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known silent c.618 p.R206 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 93 0 0 86 5 5.49451 PCDHGB7 0 genome.wustl.edu 37 5 140798770 140798770 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 140798770 140798770 C T SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known silent c.1344 p.N448 0.969 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 93 0 0 70 18 20.4545 HDAC3 0 genome.wustl.edu 37 5 141014481 141014481 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 141014481 141014481 G A SNP HDAC3 ENST00000305264 human ensembl 74_37 -1 known missense c.178 p.R60C 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 157 0 0 148 25 14.4509 ARAP3 0 genome.wustl.edu 37 5 141033493 141033493 + RNA SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 141033493 141033493 C A SNP ARAP3 ENST00000512390 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARAP3 HGNC ENSG00000120318 119 0 0 118 26 18.0556 ARAP3 0 genome.wustl.edu 37 5 141051787 141051787 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 141051787 141051787 G A SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known silent c.1467 p.Y489 1.000 smart_ArfGAP,pfscan_ArfGAP pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 224 0 0 222 15 6.32911 SPRY4 0 genome.wustl.edu 37 5 141694062 141694062 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 141694062 141694062 C A SNP SPRY4 ENST00000344120 human ensembl 74_37 -1 known missense c.681 p.Q227H 1.000 pfam_Sprouty pfam_Sprouty - no_errors SPRY4 HGNC ENSG00000187678 68 0 0 71 22 23.6559 DPYSL3 0 genome.wustl.edu 37 5 146781177 146781177 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 146781177 146781177 C T SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known silent c.894 p.A298 0.025 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 39 0 0 30 16 34.7826 FBXO38 0 genome.wustl.edu 37 5 147805103 147805103 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 147805103 147805103 G A SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known missense c.1757 p.R586H 1.000 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 173 0 0 120 25 17.2414 SH3TC2 0 genome.wustl.edu 37 5 148406585 148406585 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 148406585 148406585 G A SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known nonsense c.2710 p.R904* 0.430 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 323 0 0 251 75 23.0061 ARHGEF37 0 genome.wustl.edu 37 5 149006814 149006814 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 149006814 149006814 G A SNP ARHGEF37 ENST00000333677 human ensembl 74_37 +1 known missense c.1640 p.R547H 0.996 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF37 HGNC ENSG00000183111 129 0 0 107 29 21.3235 CSF1R 0 genome.wustl.edu 37 5 149453020 149453020 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 149453020 149453020 A G SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.926 p.L309P 0.953 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 220 0 0 189 55 22.541 ARSI 0 genome.wustl.edu 37 5 149677808 149677808 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 149677808 149677808 G A SNP ARSI ENST00000328668 human ensembl 74_37 -1 known missense c.679 p.R227C 0.886 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSI HGNC ENSG00000183876 49 0 0 40 10 20 GRIA1 0 genome.wustl.edu 37 5 152873596 152873596 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 152873596 152873596 T C SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.221 p.I74T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 144 1 0.689655 152 14 8.43373 GRIA1 0 genome.wustl.edu 37 5 153085355 153085355 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 153085355 153085355 G A SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.1581 p.M527I 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 290 0 0 199 49 19.7581 GRIA1 0 genome.wustl.edu 37 5 153144175 153144175 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 153144175 153144175 A G SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.2035 p.T679A 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 75 0 0 44 6 12 KIF4B 0 genome.wustl.edu 37 5 154396385 154396385 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 154396385 154396385 T C SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.2966 p.I989T 0.230 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 234 0 0 200 14 6.54206 CLINT1 0 genome.wustl.edu 37 5 157214796 157214796 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 157214796 157214796 A G SNP CLINT1 ENST00000296951 human ensembl 74_37 -1 known missense c.1736 p.M579T 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors CLINT1 HGNC ENSG00000113282 225 0 0 187 28 13.0233 TENM2 0 genome.wustl.edu 37 5 167674458 167674458 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 167674458 167674458 A G SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.6514 p.M2172V 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 118 0 0 84 30 26.3158 RANBP17 0 genome.wustl.edu 37 5 170632540 170632540 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 170632540 170632540 G A SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.2155 p.G719R 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 99 0 0 73 23 23.9583 BASP1 0 genome.wustl.edu 37 5 17275415 17275415 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 17275415 17275415 G A SNP BASP1 ENST00000322611 human ensembl 74_37 +1 known silent c.90 p.A30 0.019 pfam_BASP1 pfam_BASP1 - no_errors BASP1 HGNC ENSG00000176788 25 0 0 34 13 27.6596 N4BP3 0 genome.wustl.edu 37 5 177548793 177548793 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 177548793 177548793 C T SNP N4BP3 ENST00000274605 human ensembl 74_37 +1 known nonsense c.1426 p.R476* 1.000 NULL NULL - no_errors N4BP3 HGNC ENSG00000145911 17 0 0 14 3 17.6471 GRM6 0 genome.wustl.edu 37 5 178408747 178408747 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 178408747 178408747 G A SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known nonsense c.2545 p.Q849* 1.000 pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 189 0 0 158 34 17.7083 MAML1 0 genome.wustl.edu 37 5 179201712 179201712 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 179201712 179201712 C A SNP MAML1 ENST00000292599 human ensembl 74_37 +1 known missense c.2885 p.P962H 0.983 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 54 0 0 54 15 21.7391 CNOT6 0 genome.wustl.edu 37 5 179991555 179991555 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 179991555 179991555 A G SNP CNOT6 ENST00000261951 human ensembl 74_37 +1 known missense c.452 p.N151S 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6 HGNC ENSG00000113300 240 1 0.414938 168 32 16 IRX4 0 genome.wustl.edu 37 5 1879766 1879766 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 1879766 1879766 C T SNP IRX4 ENST00000231357 human ensembl 74_37 -1 known silent c.588 p.A196 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX4 HGNC ENSG00000113430 84 0 0 96 26 21.3115 CDH18 0 genome.wustl.edu 37 5 19591227 19591227 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 19591227 19591227 A G SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.938 p.M313T 0.463 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 205 0 0 144 29 16.763 CDH12 0 genome.wustl.edu 37 5 21842351 21842351 + Nonsense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 21842351 21842351 G A SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known nonsense c.733 p.Q245* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 222 0 0 200 47 19.0283 DROSHA 0 genome.wustl.edu 37 5 31526774 31526774 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 31526774 31526774 G A SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.266 p.A89V 0.687 NULL pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 35 0 0 21 13 38.2353 PDZD2 0 genome.wustl.edu 37 5 32058117 32058117 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 32058117 32058117 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.2108 p.A703V 0.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 59 0 0 52 11 17.4603 AMACR 0 genome.wustl.edu 37 5 33989221 33989221 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 33989221 33989221 T C SNP AMACR ENST00000335606 human ensembl 74_37 -1 known missense c.1126 p.N376D 0.000 NULL pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 102 0 0 78 23 22.7723 C1QTNF3 0 genome.wustl.edu 37 5 34033499 34033499 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 34033499 34033499 G A SNP C1QTNF3 ENST00000382065 human ensembl 74_37 -1 known silent c.480 p.G160 1.000 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF3 HGNC ENSG00000082196 160 0 0 124 58 31.8681 NIPBL 0 genome.wustl.edu 37 5 37000602 37000602 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 37000602 37000602 T C SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known silent c.3432 p.G1144 0.999 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 175 0 0 128 25 16.3399 GDNF 0 genome.wustl.edu 37 5 37815867 37815867 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 37815867 37815867 T C SNP GDNF ENST00000326524 human ensembl 74_37 -1 known silent c.522 p.V174 0.614 pfam_TGF-b_C,smart_TGF-b_C,pirsf_GDNF pfam_TGF-b_C,smart_TGF-b_C,pirsf_GDNF - no_errors GDNF HGNC ENSG00000168621 267 0 0 239 13 5.15873 C6 0 genome.wustl.edu 37 5 41149542 41149542 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 41149542 41149542 G A SNP C6 ENST00000263413 human ensembl 74_37 -1 known silent c.2424 p.N808 0.000 pfam_Kazal_dom,smart_FacI_MAC pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 284 0 0 229 67 22.6351 AHRR 0 genome.wustl.edu 37 5 424025 424025 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 424025 424025 C T SNP AHRR ENST00000316418 human ensembl 74_37 +1 known missense c.653 p.S218L 0.957 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 52 0 0 76 12 13.6364 GPBP1 0 genome.wustl.edu 37 5 56527097 56527097 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 56527097 56527097 C T SNP GPBP1 ENST00000424459 human ensembl 74_37 +1 known silent c.360 p.T120 0.002 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 65 0 0 52 13 20 GPBP1 0 genome.wustl.edu 37 5 56546783 56546783 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 56546783 56546783 T C SNP GPBP1 ENST00000424459 human ensembl 74_37 +1 known silent c.1035 p.D345 1.000 NULL NULL - no_errors GPBP1 HGNC ENSG00000062194 124 0 0 81 19 19 HTR1A 0 genome.wustl.edu 37 5 63256803 63256803 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 63256803 63256803 C T SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known silent c.744 p.P248 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 130 0 0 125 19 13.1944 TRIM23 0 genome.wustl.edu 37 5 64910016 64910016 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 64910016 64910016 T A SNP TRIM23 ENST00000231524 human ensembl 74_37 -1 known missense c.275 p.N92I 1.000 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,superfamily_P-loop_NTPase,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 236 1 0.421941 191 31 13.964 ERBB2IP 0 genome.wustl.edu 37 5 65320250 65320250 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 65320250 65320250 T G SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known missense c.789 p.N263K 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 190 0 0 140 12 7.89474 MAP1B 0 genome.wustl.edu 37 5 71491093 71491093 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 71491093 71491093 G A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known silent c.1911 p.T637 0.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 46 0 0 38 10 20.8333 ARHGEF28 0 genome.wustl.edu 37 5 73163798 73163798 + Silent SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 73163798 73163798 A T SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known silent c.2250 p.G750 0.000 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 94 0 0 54 10 15.625 AGGF1 0 genome.wustl.edu 37 5 76344774 76344774 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 76344774 76344774 G C SNP AGGF1 ENST00000312916 human ensembl 74_37 +1 known missense c.1327 p.E443Q 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom - no_errors AGGF1 HGNC ENSG00000164252 211 0 0 149 45 23.1959 SCAMP1 0 genome.wustl.edu 37 5 77717683 77717683 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 77717683 77717683 T C SNP SCAMP1 ENST00000538629 human ensembl 74_37 +1 known silent c.531 p.D177 0.045 pfam_SCAMP pfam_SCAMP - no_errors SCAMP1 HGNC ENSG00000085365 337 0 0 271 48 15.047 CMYA5 0 genome.wustl.edu 37 5 79031505 79031505 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 79031505 79031505 T C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.6917 p.V2306A 0.001 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 170 0 0 123 24 16.3265 XRCC4 0 genome.wustl.edu 37 5 82400785 82400785 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 82400785 82400785 T A SNP XRCC4 ENST00000338635 human ensembl 74_37 +1 known missense c.47 p.I16K 0.002 pfam_DNA_repair_prot_XRCC4,superfamily_XRCC4_N pfam_DNA_repair_prot_XRCC4,superfamily_XRCC4_N - no_errors XRCC4 HGNC ENSG00000152422 215 0 0 188 13 6.46766 EDIL3 0 genome.wustl.edu 37 5 83360539 83360539 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 83360539 83360539 A C SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known missense c.932 p.L311R 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 122 0 0 99 27 21.4286 TRIP13 0 genome.wustl.edu 37 5 908507 908507 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 908507 908507 C T SNP TRIP13 ENST00000166345 human ensembl 74_37 +1 known missense c.797 p.A266V 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_ClpA/B - no_errors TRIP13 HGNC ENSG00000071539 90 0 0 113 6 5.04202 FAM172A 0 genome.wustl.edu 37 5 93386492 93386492 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 93386492 93386492 T G SNP FAM172A ENST00000395965 human ensembl 74_37 -1 known missense c.253 p.N85H 1.000 pfam_Arb2_domain pfam_Arb2_domain - no_errors FAM172A HGNC ENSG00000113391 264 0 0 254 41 13.8983 SIM1 0 genome.wustl.edu 37 6 100838484 100838484 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 100838484 100838484 T C SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.2054 p.H685R 1.000 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 208 0 0 148 33 18.232 MAK 0 genome.wustl.edu 37 6 10796519 10796519 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 10796519 10796519 T G SNP MAK ENST00000313243 human ensembl 74_37 -1 known missense c.855 p.Q285H 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 MAK HGNC ENSG00000111837 154 0 0 89 30 25.2101 SEC63 0 genome.wustl.edu 37 6 108222672 108222672 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 108222672 108222672 C T SNP SEC63 ENST00000369002 human ensembl 74_37 -1 known missense c.1259 p.R420H 1.000 pfam_Sec63-dom,superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors SEC63 HGNC ENSG00000025796 117 0 0 90 13 12.6214 FOXO3 0 genome.wustl.edu 37 6 108985139 108985139 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 108985139 108985139 G A SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known missense c.1103 p.R368Q 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 89 0 0 65 10 13.3333 ARMC2 0 genome.wustl.edu 37 6 109294701 109294701 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 109294701 109294701 C A SNP ARMC2 ENST00000392644 human ensembl 74_37 +1 known missense c.2588 p.P863H 0.282 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 249 1 0.4 231 41 15.0735 RWDD1 0 genome.wustl.edu 37 6 116892728 116892728 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 116892728 116892728 G A SNP RWDD1 ENST00000517800 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors RWDD1 HGNC ENSG00000111832 38 0 0 40 6 13.0435 GJA1 0 genome.wustl.edu 37 6 121768103 121768103 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 121768103 121768103 T C SNP GJA1 ENST00000282561 human ensembl 74_37 +1 known missense c.110 p.L37P 1.000 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 176 0 0 125 19 13.1944 PTPRK 0 genome.wustl.edu 37 6 128316642 128316642 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 128316642 128316642 G A SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.2845 p.P949S 1.000 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_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 68 0 0 70 9 11.3924 LAMA2 0 genome.wustl.edu 37 6 129419458 129419458 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 129419458 129419458 T C SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known silent c.537 p.L179 0.937 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 132 0 0 110 28 20.2899 LAMA2 0 genome.wustl.edu 37 6 129813110 129813110 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 129813110 129813110 A G SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.7963 p.I2655V 0.004 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 124 0 0 74 24 24.4898 SIRT5 0 genome.wustl.edu 37 6 13584404 13584404 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 13584404 13584404 C A SNP SIRT5 ENST00000606117 human ensembl 74_37 +1 known missense c.62 p.P21H 0.022 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT5 HGNC ENSG00000124523 130 0 0 126 35 21.7391 MAP3K5 0 genome.wustl.edu 37 6 136913687 136913687 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 136913687 136913687 A G SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.2944 p.Y982H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 150 0 0 121 7 5.46875 TNFAIP3 0 genome.wustl.edu 37 6 138201244 138201244 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 138201244 138201244 C T SNP TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known missense c.1943 p.A648V 0.719 NULL pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 105 0 0 88 14 13.7255 HECA 0 genome.wustl.edu 37 6 139487945 139487945 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 139487945 139487945 G A SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.796 p.G266S 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 21 0 0 22 5 18.5185 FBXO30 0 genome.wustl.edu 37 6 146126057 146126057 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 146126057 146126057 C T SNP FBXO30 ENST00000237281 human ensembl 74_37 -1 known silent c.1485 p.P495 0.994 NULL pfam_F-box_dom,superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 200 0 0 137 36 20.8092 GRM1 0 genome.wustl.edu 37 6 146480484 146480484 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 146480484 146480484 G T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.701 p.G234V 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 153 0 0 137 37 21.2644 CCDC170 0 genome.wustl.edu 37 6 151857487 151857487 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 151857487 151857487 C T SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known missense c.92 p.T31M 0.570 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 178 0 0 142 22 13.4146 SYNE1 0 genome.wustl.edu 37 6 152702327 152702327 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 152702327 152702327 C A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.8823 p.Q2941H 0.061 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 189 0 0 197 14 6.63507 SYNE1 0 genome.wustl.edu 37 6 152776602 152776602 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 152776602 152776602 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.2851 p.E951K 0.993 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 163 0 0 124 36 22.5 JARID2 0 genome.wustl.edu 37 6 15496926 15496926 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 15496926 15496926 G A SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known silent c.1470 p.P490 0.857 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 40 0 0 26 7 21.2121 TIAM2 0 genome.wustl.edu 37 6 155577810 155577810 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 155577810 155577810 T C SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.4748 p.L1583S 0.002 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 59 0 0 41 10 19.6078 ARID1B 0 genome.wustl.edu 37 6 157522620 157522620 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 157522620 157522620 T A SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.5012 p.I1671N 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 235 0 0 173 36 17.2249 SYNJ2 0 genome.wustl.edu 37 6 158499313 158499313 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 158499313 158499313 G T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.2567 p.R856I 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 191 0 0 169 52 23.5294 SYNJ2 0 genome.wustl.edu 37 6 158509770 158509770 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 158509770 158509770 C T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.3422 p.T1141M 0.001 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 138 0 0 108 27 20 TULP4 0 genome.wustl.edu 37 6 158834150 158834150 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 158834150 158834150 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.306 p.A102 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 67 0 0 45 17 27.4194 FNDC1 0 genome.wustl.edu 37 6 159654471 159654471 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 159654471 159654471 C T SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.2927 p.A976V 0.002 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 19 0 0 18 3 14.2857 PLG 0 genome.wustl.edu 37 6 161132531 161132531 + RNA SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 161132531 161132531 C G SNP PLG ENST00000494325 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PLG HGNC ENSG00000122194 23 0 0 22 5 18.5185 PLG 0 genome.wustl.edu 37 6 161135861 161135861 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 161135861 161135861 G T SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.583 p.G195C 1.000 pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 117 0 0 104 6 5.45455 PLG 0 genome.wustl.edu 37 6 161139823 161139823 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 161139823 161139823 C T SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.1049 p.P350L 0.000 pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 74 0 0 58 14 19.4444 CCR6 0 genome.wustl.edu 37 6 167549868 167549868 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 167549868 167549868 G A SNP CCR6 ENST00000341935 human ensembl 74_37 +1 known silent c.150 p.P50 0.000 prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR6,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CXCR_1/2 - no_errors CCR6 HGNC ENSG00000112486 245 0 0 170 39 18.6603 MLLT4 0 genome.wustl.edu 37 6 168319457 168319457 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 168319457 168319457 G A SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.2731 p.D911N 1.000 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 - no_errors MLLT4 HGNC ENSG00000130396 69 0 0 56 9 13.8462 LRRC16A 0 genome.wustl.edu 37 6 25515955 25515955 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 25515955 25515955 T C SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel missense c.1685 p.I562T 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 26 0 0 15 10 40 SLC17A2 0 genome.wustl.edu 37 6 25921412 25921412 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 25921412 25921412 C T SNP SLC17A2 ENST00000377850 human ensembl 74_37 -1 known missense c.469 p.A157T 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 106 0 0 89 7 7.29167 BTN3A3 0 genome.wustl.edu 37 6 26452153 26452153 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 26452153 26452153 C T SNP BTN3A3 ENST00000244519 human ensembl 74_37 +1 known silent c.1269 p.V423 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 101 0 0 81 30 27.027 HIST1H2BL 0 genome.wustl.edu 37 6 27775375 27775375 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 27775375 27775375 G T SNP HIST1H2BL ENST00000377401 human ensembl 74_37 -1 known missense c.310 p.P104T 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BL HGNC ENSG00000185130 105 0 0 122 7 5.42636 SCAND3 0 genome.wustl.edu 37 6 28547153 28547153 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 28547153 28547153 A G SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.464 p.M155T 0.074 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 220 0 0 172 45 20.7373 ZNF311 0 genome.wustl.edu 37 6 28964030 28964030 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 28964030 28964030 G A SNP ZNF311 ENST00000377179 human ensembl 74_37 -1 known missense c.749 p.A250V 0.051 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 ZNF311 HGNC ENSG00000197935 215 0 0 154 43 21.8274 OR2J1 0 genome.wustl.edu 37 6 29068888 29068888 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 29068888 29068888 C A SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known missense c.169 p.H57N 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 261 0 0 211 53 20.0758 TRIM26 0 genome.wustl.edu 37 6 30166679 30166679 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 30166679 30166679 C T SNP TRIM26 ENST00000437089 human ensembl 74_37 -1 known missense c.202 p.V68M 0.902 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 62 0 0 86 5 5.49451 PPP1R10 0 genome.wustl.edu 37 6 30571948 30571948 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 30571948 30571948 G A SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.1345 p.R449C 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 254 0 0 191 57 22.9839 MDC1 0 genome.wustl.edu 37 6 30673671 30673671 + Nonsense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 30673671 30673671 C A SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known nonsense c.3289 p.E1097* 0.786 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 391 1 0.255102 287 75 20.7182 POU5F1 0 genome.wustl.edu 37 6 31133735 31133735 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 31133735 31133735 G A SNP POU5F1 ENST00000259915 human ensembl 74_37 -1 known silent c.495 p.A165 0.173 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F1 HGNC ENSG00000204531 76 0 0 79 6 7.05882 HLA-B 0 genome.wustl.edu 37 6 31322412 31322412 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 31322412 31322412 G A SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.1043 p.A348V 0.114 pfam_MHC_I_a_C pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 94 0 0 85 17 16.6667 AIF1 0 genome.wustl.edu 37 6 31583458 31583458 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 31583458 31583458 C T SNP AIF1 ENST00000376059 human ensembl 74_37 +1 known silent c.99 p.D33 0.998 NULL pfscan_EF_hand_dom - no_errors AIF1 HGNC ENSG00000204472 43 0 0 30 11 26.8293 ZBTB12 0 genome.wustl.edu 37 6 31868916 31868916 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 31868916 31868916 G T SNP ZBTB12 ENST00000375527 human ensembl 74_37 -1 known missense c.167 p.P56H 0.989 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB12 HGNC ENSG00000204366 78 0 0 58 19 24.6753 TNXB 0 genome.wustl.edu 37 6 32011609 32011609 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 32011609 32011609 A T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.11441 p.I3814N 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 177 0 0 171 34 16.5854 PRRT1 0 genome.wustl.edu 37 6 32117369 32117369 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 32117369 32117369 G A SNP PRRT1 ENST00000211413 human ensembl 74_37 -1 known missense c.689 p.T230I 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors PRRT1 HGNC ENSG00000204314 57 0 0 55 9 14.0625 EGFL8 0 genome.wustl.edu 37 6 32134513 32134513 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 32134513 32134513 G A SNP EGFL8 ENST00000333845 human ensembl 74_37 +1 known missense c.260 p.R87Q 0.987 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL8 HGNC ENSG00000241404 50 0 0 40 12 23.0769 LINC00336 0 genome.wustl.edu 37 6 33561013 33561013 + RNA SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 33561013 33561013 A G SNP LINC00336 ENST00000477984 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00336 HGNC ENSG00000197251 20 0 0 26 9 25.7143 IP6K3 0 genome.wustl.edu 37 6 33703227 33703227 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 33703227 33703227 G A SNP IP6K3 ENST00000293756 human ensembl 74_37 -1 known silent c.27 p.A9 0.003 NULL pfam_IPK - no_errors IP6K3 HGNC ENSG00000161896 50 0 0 35 14 28.5714 PACSIN1 0 genome.wustl.edu 37 6 34494033 34494033 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 34494033 34494033 G A SNP PACSIN1 ENST00000486120 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PACSIN1 HGNC ENSG00000124507 33 0 0 26 7 21.2121 LHFPL5 0 genome.wustl.edu 37 6 35773664 35773664 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 35773664 35773664 C A SNP LHFPL5 ENST00000360215 human ensembl 74_37 +1 known missense c.217 p.L73M 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC ENSG00000197753 237 0 0 203 46 18.4739 BRPF3 0 genome.wustl.edu 37 6 36198280 36198280 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 36198280 36198280 G A SNP BRPF3 ENST00000357641 human ensembl 74_37 +1 known missense c.3512 p.R1171H 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 53 0 0 55 3 5.17241 ZFAND3 0 genome.wustl.edu 37 6 38120049 38120049 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 38120049 38120049 C T SNP ZFAND3 ENST00000287218 human ensembl 74_37 +1 known missense c.568 p.H190Y 1.000 pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 pfam_Znf_AN1,pfam_Znf_A20,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND3 HGNC ENSG00000156639 196 0 0 142 33 18.8571 DNAH8 0 genome.wustl.edu 37 6 38690893 38690893 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 38690893 38690893 T C SNP DNAH8 ENST00000449981 human ensembl 74_37 +1 known missense c.308 p.L103S 0.000 NULL pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 106 0 0 83 25 23.1481 KCNK5 0 genome.wustl.edu 37 6 39159505 39159505 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 39159505 39159505 C T SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known missense c.661 p.A221T 0.978 pfam_2pore_dom_K_chnl_dom pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 168 0 0 139 30 17.7515 KIF6 0 genome.wustl.edu 37 6 39693056 39693056 + Silent SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 39693056 39693056 T G SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known silent c.31 p.R11 0.967 superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom 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 213 0 0 203 46 18.4739 PRPF4B 0 genome.wustl.edu 37 6 4037685 4037685 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 4037685 4037685 C T SNP PRPF4B ENST00000337659 human ensembl 74_37 +1 known silent c.1293 p.S431 1.000 NULL 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 PRPF4B HGNC ENSG00000112739 81 0 0 54 13 19.403 ECI2 0 genome.wustl.edu 37 6 4117629 4117629 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 4117629 4117629 T C SNP ECI2 ENST00000380118 human ensembl 74_37 -1 known silent c.942 p.Q314 0.993 pfam_Crotonase_core_superfam pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core_superfam,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ENSG00000198721 195 0 0 149 35 19.0217 CUL9 0 genome.wustl.edu 37 6 43181612 43181612 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 43181612 43181612 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.5650 p.G1884R 0.997 smart_Cullin_neddylation_domain pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 117 0 0 119 33 21.7105 CUL9 0 genome.wustl.edu 37 6 43192051 43192051 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 43192051 43192051 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.7422 p.P2474 0.005 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 45 0 0 46 17 26.9841 RUNX2 0 genome.wustl.edu 37 6 45390650 45390650 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 45390650 45390650 C A SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known missense c.583 p.P195T 1.000 pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 22 0 0 29 3 9.375 TFAP2D 0 genome.wustl.edu 37 6 50696582 50696582 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 50696582 50696582 G A SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known silent c.612 p.V204 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 191 0 0 161 44 21.4634 DST 0 genome.wustl.edu 37 6 56382399 56382399 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 56382399 56382399 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.18056 p.A6019V 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 64 0 0 40 22 35.4839 DST 0 genome.wustl.edu 37 6 56480956 56480956 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 56480956 56480956 G A SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.7309 p.R2437W 0.423 smart_Plectin_repeat pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 145 1 0.684932 134 26 16.25 EXOC2 0 genome.wustl.edu 37 6 599181 599181 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 599181 599181 G A SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known missense c.787 p.R263W 0.976 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 349 0 0 288 32 10 KHDRBS2 0 genome.wustl.edu 37 6 62887178 62887178 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 62887178 62887178 T A SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.131 p.D44V 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 77 0 0 52 15 22.3881 COL9A1 0 genome.wustl.edu 37 6 71004218 71004218 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 71004218 71004218 C T SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known silent c.348 p.T116 0.771 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 347 0 0 221 52 19.0476 RNGTT 0 genome.wustl.edu 37 6 89614482 89614482 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 89614482 89614482 G A SNP RNGTT ENST00000369485 human ensembl 74_37 -1 known silent c.636 p.P212 0.921 pirsf_mRNA_cap_enz_bifunc pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-sp_Pase - no_errors RNGTT HGNC ENSG00000111880 153 0 0 131 33 20.122 BACH2 0 genome.wustl.edu 37 6 90661494 90661494 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 90661494 90661494 G A SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known missense c.331 p.R111C 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 82 0 0 69 25 26.5957 FBXO24 0 genome.wustl.edu 37 7 100192158 100192158 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 100192158 100192158 G A SNP FBXO24 ENST00000427939 human ensembl 74_37 +1 known missense c.1060 p.V354I 1.000 superfamily_RCC1/BLIP-II pfam_F-box_dom,pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 42 0 0 34 11 24.4444 GIGYF1 0 genome.wustl.edu 37 7 100282113 100282113 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 100282113 100282113 C T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.1589 p.R530H 1.000 superfamily_GYF,smart_GYF pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 63 0 0 51 15 22.7273 GIGYF1 0 genome.wustl.edu 37 7 100283673 100283673 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 100283673 100283673 C T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known silent c.978 p.E326 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 51 0 0 49 5 9.25926 EPHB4 0 genome.wustl.edu 37 7 100403278 100403278 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 100403278 100403278 C T SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known silent c.2523 p.P841 0.010 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,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 - no_errors EPHB4 HGNC ENSG00000196411 99 0 0 78 34 30.3571 SLC12A9 0 genome.wustl.edu 37 7 100454739 100454739 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 100454739 100454739 C T SNP SLC12A9 ENST00000354161 human ensembl 74_37 +1 known missense c.698 p.P233L 0.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 101 0 0 95 27 22.1311 TRIM56 0 genome.wustl.edu 37 7 100732369 100732369 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 100732369 100732369 C T SNP TRIM56 ENST00000306085 human ensembl 74_37 +1 known silent c.1776 p.H592 0.722 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 92 0 0 73 19 20.6522 CUX1 0 genome.wustl.edu 37 7 101845475 101845475 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 101845475 101845475 C T SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known silent c.2931 p.F977 0.999 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 118 0 0 104 36 25.7143 LRRC17 0 genome.wustl.edu 37 7 102574619 102574619 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 102574619 102574619 C T SNP LRRC17 ENST00000339431 human ensembl 74_37 +1 known silent c.259 p.L87 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 127 0 0 111 16 12.5984 PRKAR2B 0 genome.wustl.edu 37 7 106791470 106791470 + Splice_Site SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 106791470 106791470 T C SNP PRKAR2B ENST00000265717 human ensembl 74_37 +1 known splice_site c.843+2 e7+2 1.000 - - - no_errors PRKAR2B HGNC ENSG00000005249 64 0 0 45 11 19.6429 PPP1R3A 0 genome.wustl.edu 37 7 113519436 113519436 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 113519436 113519436 C T SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1711 p.A571T 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 229 1 0.434783 158 39 19.797 CFTR 0 genome.wustl.edu 37 7 117171005 117171005 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 117171005 117171005 A G SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.326 p.Y109C 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 96 0 0 55 10 15.3846 KCND2 0 genome.wustl.edu 37 7 119915439 119915439 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 119915439 119915439 G A SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known silent c.753 p.A251 0.012 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 90 0 0 58 14 19.4444 CPED1 0 genome.wustl.edu 37 7 120781026 120781026 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 120781026 120781026 G C SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known missense c.1845 p.K615N 0.983 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 97 0 0 88 5 5.37634 TMEM106B 0 genome.wustl.edu 37 7 12263969 12263969 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 12263969 12263969 C T SNP TMEM106B ENST00000396667 human ensembl 74_37 +1 known silent c.399 p.V133 1.000 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106B HGNC ENSG00000106460 354 0 0 293 57 16.2857 HYAL4 0 genome.wustl.edu 37 7 123508820 123508820 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 123508820 123508820 C A SNP HYAL4 ENST00000223026 human ensembl 74_37 +1 known missense c.493 p.Q165K 0.028 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL4 HGNC ENSG00000106302 197 0 0 177 12 6.34921 GCC1 0 genome.wustl.edu 37 7 127223030 127223030 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 127223030 127223030 C T SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.1366 p.V456M 0.989 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 219 1 0.454545 152 35 18.7166 FSCN3 0 genome.wustl.edu 37 7 127235709 127235709 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 127235709 127235709 C T SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known missense c.493 p.R165C 0.931 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 128 0 0 92 20 17.8571 FLNC 0 genome.wustl.edu 37 7 128483862 128483862 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 128483862 128483862 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.2824 p.V942M 0.878 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 245 0 0 298 17 5.39683 FLNC 0 genome.wustl.edu 37 7 128494555 128494555 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 128494555 128494555 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.6816 p.S2272 0.993 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 9 0 0 7 3 30 STRIP2 0 genome.wustl.edu 37 7 129122851 129122851 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 129122851 129122851 C T SNP STRIP2 ENST00000249344 human ensembl 74_37 +1 known missense c.2218 p.R740C 1.000 pfam_DUF3402 pfam_DUF3402,pfam_N1221 - no_errors STRIP2 HGNC ENSG00000128578 53 0 0 70 7 9.09091 COPG2 0 genome.wustl.edu 37 7 130351756 130351756 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 130351756 130351756 T C SNP COPG2 ENST00000445977 human ensembl 74_37 -1 known missense c.104 p.N35S 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold - no_errors COPG2 HGNC ENSG00000158623 10 0 0 15 8 34.7826 PLXNA4 0 genome.wustl.edu 37 7 131895805 131895805 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 131895805 131895805 G T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.2195 p.S732Y 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 31 0 0 19 9 32.1429 CHCHD3 0 genome.wustl.edu 37 7 132659927 132659927 + Splice_Site SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 132659927 132659927 A G SNP CHCHD3 ENST00000423635 human ensembl 74_37 -1 known splice_site c.459+2 e5+2 1.000 - - - no_errors CHCHD3 HGNC ENSG00000106554 166 0 0 106 27 20.3008 CNOT4 0 genome.wustl.edu 37 7 135079001 135079001 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 135079001 135079001 C T SNP CNOT4 ENST00000541284 human ensembl 74_37 -1 known silent c.1296 p.S432 0.458 NULL pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 188 0 0 115 41 26.2821 DGKI 0 genome.wustl.edu 37 7 137270094 137270094 + Splice_Site SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 137270094 137270094 T C SNP DGKI ENST00000288490 human ensembl 74_37 -1 known splice_site c.1426-2 e14-2 1.000 - - - no_errors DGKI HGNC ENSG00000157680 118 0 0 94 19 16.8142 ZC3HAV1 0 genome.wustl.edu 37 7 138758625 138758625 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 138758625 138758625 T C SNP ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known missense c.1849 p.T617A 0.000 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 182 0 0 140 28 16.6667 HIPK2 0 genome.wustl.edu 37 7 139268623 139268623 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 139268623 139268623 C T SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.2905 p.V969M 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 24 0 0 18 5 21.7391 HIPK2 0 genome.wustl.edu 37 7 139315949 139315949 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 139315949 139315949 G A SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.1309 p.R437C 1.000 pfam_Prot_kinase_dom,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_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 32 0 0 39 9 18.75 AGK 0 genome.wustl.edu 37 7 141351372 141351372 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 141351372 141351372 G A SNP AGK ENST00000355413 human ensembl 74_37 +1 known missense c.1094 p.C365Y 0.942 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors AGK HGNC ENSG00000006530 51 0 0 39 8 17.0213 KIAA1147 0 genome.wustl.edu 37 7 141386388 141386388 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 141386388 141386388 A G SNP KIAA1147 ENST00000536163 human ensembl 74_37 -1 known silent c.339 p.S113 0.992 pfam_DUF2347 pfam_DUF2347 - no_errors KIAA1147 HGNC ENSG00000257093 49 0 0 30 8 21.0526 MGAM 0 genome.wustl.edu 37 7 141776518 141776518 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 141776518 141776518 C T SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative silent c.5385 p.F1795 0.019 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 102 0 0 68 20 22.7273 EPHB6 0 genome.wustl.edu 37 7 142568426 142568426 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 142568426 142568426 A G SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.2945 p.Q982R 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM 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_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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 - no_errors EPHB6 HGNC ENSG00000106123 198 0 0 146 36 19.7802 TAS2R60 0 genome.wustl.edu 37 7 143140741 143140741 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 143140741 143140741 C T SNP TAS2R60 ENST00000332690 human ensembl 74_37 +1 known missense c.196 p.R66C 0.003 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R60 HGNC ENSG00000185899 185 0 0 150 49 24.6231 OR6B1 0 genome.wustl.edu 37 7 143701922 143701922 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 143701922 143701922 T C SNP OR6B1 ENST00000408922 human ensembl 74_37 +1 known missense c.833 p.I278T 0.227 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 OR6B1 HGNC ENSG00000221813 223 0 0 165 39 19.1176 OR2A14 0 genome.wustl.edu 37 7 143826976 143826976 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 143826976 143826976 G A SNP OR2A14 ENST00000408899 human ensembl 74_37 +1 known silent c.771 p.T257 0.969 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A14 HGNC ENSG00000221938 265 0 0 224 48 17.6471 MICALL2 0 genome.wustl.edu 37 7 1484922 1484922 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 1484922 1484922 C T SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known missense c.784 p.A262T 0.004 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 34 0 0 37 3 7.5 ZNF786 0 genome.wustl.edu 37 7 148768017 148768017 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 148768017 148768017 G A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known missense c.1847 p.T616M 0.999 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 ZNF786 HGNC ENSG00000197362 49 0 0 42 21 33.3333 ZNF746 0 genome.wustl.edu 37 7 149171723 149171723 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 149171723 149171723 C T SNP ZNF746 ENST00000458143 human ensembl 74_37 -1 known missense c.1690 p.V564M 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ENSG00000181220 30 0 0 12 7 36.8421 DPP6 0 genome.wustl.edu 37 7 154263935 154263935 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 154263935 154263935 A T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.561 p.L187F 0.967 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 74 0 0 57 16 21.9178 TMEM184A 0 genome.wustl.edu 37 7 1588314 1588314 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 1588314 1588314 C T SNP TMEM184A ENST00000297477 human ensembl 74_37 -1 known missense c.655 p.G219S 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 33 0 0 39 5 11.3636 VIPR2 0 genome.wustl.edu 37 7 158896468 158896468 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 158896468 158896468 C T SNP VIPR2 ENST00000262178 human ensembl 74_37 -1 known missense c.337 p.D113N 0.295 smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_VIP_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR2 HGNC ENSG00000106018 92 0 0 86 13 13.1313 SNX13 0 genome.wustl.edu 37 7 17908067 17908067 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 17908067 17908067 C T SNP SNX13 ENST00000428135 human ensembl 74_37 -1 known missense c.800 p.S267N 1.000 pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX13 HGNC ENSG00000071189 43 0 0 40 13 24.5283 ABCB5 0 genome.wustl.edu 37 7 20785017 20785017 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 20785017 20785017 G A SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.2050 p.A684T 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 139 0 0 107 28 20.7407 RAPGEF5 0 genome.wustl.edu 37 7 22197498 22197498 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 22197498 22197498 A G SNP RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known missense c.1073 p.V358A 0.991 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 100 0 0 63 7 10 FAM126A 0 genome.wustl.edu 37 7 23018028 23018028 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 23018028 23018028 G A SNP FAM126A ENST00000432176 human ensembl 74_37 -1 known missense c.193 p.R65C 1.000 pfam_Hyccin pfam_Hyccin - no_errors FAM126A HGNC ENSG00000122591 88 0 0 75 15 16.6667 EIF3B 0 genome.wustl.edu 37 7 2402723 2402723 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 2402723 2402723 C G SNP EIF3B ENST00000360876 human ensembl 74_37 +1 known missense c.831 p.D277E 0.979 pirsf_EIF3B pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 368 0 0 360 20 5.26316 TTYH3 0 genome.wustl.edu 37 7 2687619 2687619 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 2687619 2687619 T C SNP TTYH3 ENST00000258796 human ensembl 74_37 +1 known missense c.653 p.L218P 1.000 pfam_Tweety pfam_Tweety - no_errors TTYH3 HGNC ENSG00000136295 73 0 0 64 20 23.8095 NOD1 0 genome.wustl.edu 37 7 30465314 30465314 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 30465314 30465314 G A SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known silent c.2802 p.N934 0.911 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 149 0 0 138 12 8 BBS9 0 genome.wustl.edu 37 7 33195315 33195315 + Splice_Site SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 33195315 33195315 G A SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known splice_site c.328+1 e3+1 1.000 - - - no_errors BBS9 HGNC ENSG00000122507 74 0 0 43 7 14 C7orf10 0 genome.wustl.edu 37 7 40899966 40899966 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 40899966 40899966 C T SNP C7orf10 ENST00000309930 human ensembl 74_37 +1 known missense c.1304 p.P435L 1.000 superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors C7orf10 HGNC ENSG00000175600 223 0 0 203 39 16.1157 GLI3 0 genome.wustl.edu 37 7 42004994 42004994 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 42004994 42004994 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3677 p.P1226Q 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 97 0 0 89 17 16.0377 STK17A 0 genome.wustl.edu 37 7 43635706 43635706 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 43635706 43635706 T G SNP STK17A ENST00000319357 human ensembl 74_37 +1 known missense c.413 p.L138R 1.000 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 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 STK17A HGNC ENSG00000164543 211 0 0 162 49 23.2227 DBNL 0 genome.wustl.edu 37 7 44097480 44097480 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 44097480 44097480 G A SNP DBNL ENST00000497184 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DBNL HGNC ENSG00000136279 55 0 0 46 8 14.8148 POLM 0 genome.wustl.edu 37 7 44113278 44113278 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 44113278 44113278 G A SNP POLM ENST00000242248 human ensembl 74_37 -1 known silent c.1344 p.S448 0.993 smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,prints_TdT/Mu pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors POLM HGNC ENSG00000122678 112 0 0 102 24 19.0476 AEBP1 0 genome.wustl.edu 37 7 44151594 44151594 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 44151594 44151594 G A SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.1982 p.R661H 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 59 0 0 46 10 17.8571 CCM2 0 genome.wustl.edu 37 7 45103550 45103550 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 45103550 45103550 C A SNP CCM2 ENST00000381112 human ensembl 74_37 +1 known missense c.301 p.L101M 1.000 pfscan_PTB/PI_dom pfscan_PTB/PI_dom - no_errors CCM2 HGNC ENSG00000136280 154 1 0.645161 128 26 16.8831 TBRG4 0 genome.wustl.edu 37 7 45142994 45142994 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 45142994 45142994 C T SNP TBRG4 ENST00000258770 human ensembl 74_37 -1 known missense c.1114 p.V372I 0.003 pfam_FAST_Leu-rich pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors TBRG4 HGNC ENSG00000136270 45 0 0 32 4 11.1111 ADCY1 0 genome.wustl.edu 37 7 45748012 45748012 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 45748012 45748012 G A SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.2881 p.V961I 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 121 0 0 83 18 17.8218 IKZF1 0 genome.wustl.edu 37 7 50468283 50468283 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 50468283 50468283 G A SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known silent c.1518 p.S506 0.075 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 28 0 0 23 4 14.8148 SLC29A4 0 genome.wustl.edu 37 7 5330864 5330864 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 5330864 5330864 C T SNP SLC29A4 ENST00000297195 human ensembl 74_37 +1 known silent c.411 p.T137 0.969 superfamily_MFS_dom_general_subst_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 41 0 0 18 5 21.7391 EGFR 0 genome.wustl.edu 37 7 55240694 55240694 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 55240694 55240694 C T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known silent c.1938 p.I646 0.177 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 109 0 0 106 23 17.8295 CCT6A 0 genome.wustl.edu 37 7 56126071 56126071 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 56126071 56126071 T G SNP CCT6A ENST00000275603 human ensembl 74_37 +1 known missense c.742 p.F248V 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 87 0 0 51 3 5.55556 ERV3-1 0 genome.wustl.edu 37 7 64452895 64452895 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 64452895 64452895 C T SNP ERV3-1 ENST00000394323 human ensembl 74_37 -1 known silent c.510 p.T170 0.212 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 181 0 0 170 31 15.4229 KDELR2 0 genome.wustl.edu 37 7 6505847 6505847 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 6505847 6505847 G A SNP KDELR2 ENST00000258739 human ensembl 74_37 -1 known silent c.459 p.F153 1.000 pfam_ER_ret_rcpt,prints_ER_ret_rcpt pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR2 HGNC ENSG00000136240 111 0 0 111 25 18.3824 AUTS2 0 genome.wustl.edu 37 7 70252292 70252292 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 70252292 70252292 G A SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known silent c.2406 p.S802 1.000 prints_AUTS2 prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 59 0 0 57 13 18.5714 WBSCR17 0 genome.wustl.edu 37 7 71142200 71142200 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 71142200 71142200 G A SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.1409 p.R470H 0.998 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 421 1 0.236967 343 93 21.3303 TRIM50 0 genome.wustl.edu 37 7 72738518 72738518 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 72738518 72738518 C T SNP TRIM50 ENST00000333149 human ensembl 74_37 -1 known missense c.268 p.V90M 0.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM50 HGNC ENSG00000146755 123 0 0 107 25 18.9394 CLDN4 0 genome.wustl.edu 37 7 73245910 73245910 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 73245910 73245910 T A SNP CLDN4 ENST00000340958 human ensembl 74_37 +1 known missense c.379 p.L127M 0.809 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin4 - no_errors CLDN4 HGNC ENSG00000189143 41 0 0 35 5 12.5 EIF4H 0 genome.wustl.edu 37 7 73604058 73604058 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 73604058 73604058 C T SNP EIF4H ENST00000265753 human ensembl 74_37 +1 known silent c.303 p.Y101 0.979 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4H HGNC ENSG00000106682 155 1 0.641026 136 29 17.5758 LAT2 0 genome.wustl.edu 37 7 73638506 73638506 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 73638506 73638506 C T SNP LAT2 ENST00000275635 human ensembl 74_37 +1 known missense c.607 p.R203C 0.796 NULL NULL - no_errors LAT2 HGNC ENSG00000086730 126 1 0.787402 133 27 16.875 GTF2IRD2B 0 genome.wustl.edu 37 7 74564631 74564631 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 74564631 74564631 T C SNP GTF2IRD2B ENST00000312575 human ensembl 74_37 +1 known missense c.2378 p.L793P 0.993 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2B HGNC ENSG00000174428 89 0 0 73 18 19.7802 TMEM243 0 genome.wustl.edu 37 7 86827314 86827314 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 86827314 86827314 C T SNP TMEM243 ENST00000257637 human ensembl 74_37 -1 known silent c.177 p.P59 0.002 pfam_DUF2678 pfam_DUF2678 - no_errors TMEM243 HGNC ENSG00000135185 174 0 0 159 36 18.4615 STEAP4 0 genome.wustl.edu 37 7 87912268 87912268 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 87912268 87912268 G C SNP STEAP4 ENST00000380079 human ensembl 74_37 -1 known missense c.672 p.I224M 1.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP4 HGNC ENSG00000127954 157 0 0 113 20 15.0376 ZNF804B 0 genome.wustl.edu 37 7 88963633 88963633 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 88963633 88963633 T G SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.1337 p.V446G 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 127 1 0.78125 98 24 19.6721 KRIT1 0 genome.wustl.edu 37 7 91852279 91852279 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 91852279 91852279 C T SNP KRIT1 ENST00000340022 human ensembl 74_37 -1 known missense c.1268 p.R423Q 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 110 1 0.900901 103 6 5.50459 ANKIB1 0 genome.wustl.edu 37 7 92027163 92027163 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 92027163 92027163 A G SNP ANKIB1 ENST00000265742 human ensembl 74_37 +1 known missense c.2522 p.D841G 1.000 NULL pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 237 0 0 194 32 14.1593 ZNF394 0 genome.wustl.edu 37 7 99091276 99091276 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 99091276 99091276 C A SNP ZNF394 ENST00000337673 human ensembl 74_37 -1 known missense c.1562 p.G521V 1.000 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF394 HGNC ENSG00000160908 346 0 0 253 53 17.3203 MCM7 0 genome.wustl.edu 37 7 99690627 99690627 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 99690627 99690627 C T SNP MCM7 ENST00000303887 human ensembl 74_37 -1 known silent c.2088 p.A696 0.778 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 70 0 0 64 9 12.3288 PVRIG 0 genome.wustl.edu 37 7 99818219 99818219 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 99818219 99818219 C T SNP PVRIG ENST00000317271 human ensembl 74_37 +1 known silent c.519 p.A173 0.859 NULL NULL - no_errors PVRIG HGNC ENSG00000213413 106 0 0 90 19 17.4312 KLF10 0 genome.wustl.edu 37 8 103663847 103663847 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 103663847 103663847 G A SNP KLF10 ENST00000285407 human ensembl 74_37 -1 known missense c.713 p.T238M 0.546 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF10 HGNC ENSG00000155090 124 0 0 92 32 25.8065 RP1L1 0 genome.wustl.edu 37 8 10469597 10469597 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 10469597 10469597 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.2011 p.R671C 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 162 0 0 196 22 10.0917 ZFPM2 0 genome.wustl.edu 37 8 106813836 106813836 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 106813836 106813836 T C SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.1526 p.M509T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 331 0 0 372 25 6.29723 OXR1 0 genome.wustl.edu 37 8 107763096 107763096 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 107763096 107763096 C T SNP OXR1 ENST00000442977 human ensembl 74_37 +1 known missense c.2552 p.T851M 1.000 pfam_TLDc,smart_TLDc pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 240 0 0 242 14 5.46875 PKHD1L1 0 genome.wustl.edu 37 8 110432768 110432768 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 110432768 110432768 C T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.2546 p.P849L 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 67 0 0 67 8 10.6667 CSMD3 0 genome.wustl.edu 37 8 113529433 113529433 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 113529433 113529433 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.4586 p.R1529H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 88 0 0 97 17 14.9123 TRPS1 0 genome.wustl.edu 37 8 116426706 116426706 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 116426706 116426706 C T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.3430 p.V1144M 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 81 0 0 58 9 13.4328 TRPS1 0 genome.wustl.edu 37 8 116430602 116430602 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 116430602 116430602 C T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2779 p.G927R 1.000 pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 279 0 0 275 44 13.7931 AARD 0 genome.wustl.edu 37 8 117950492 117950492 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 117950492 117950492 G A SNP AARD ENST00000378279 human ensembl 74_37 +1 known missense c.10 p.G4R 0.000 NULL NULL - no_errors AARD HGNC ENSG00000205002 31 0 0 25 3 10.7143 EXT1 0 genome.wustl.edu 37 8 119123086 119123086 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 119123086 119123086 G T SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.200 p.P67H 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 125 0 0 125 26 17.2185 FAM86B1 0 genome.wustl.edu 37 8 12044028 12044028 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 12044028 12044028 C T SNP FAM86B1 ENST00000448228 human ensembl 74_37 -1 known missense c.473 p.R158Q 0.084 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86B1 HGNC ENSG00000186523 63 0 0 66 9 12 ZHX1 0 genome.wustl.edu 37 8 124267604 124267604 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 124267604 124267604 G A SNP ZHX1 ENST00000297857 human ensembl 74_37 -1 known missense c.583 p.R195W 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 270 0 0 289 49 14.497 KLHL38 0 genome.wustl.edu 37 8 124663913 124663913 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 124663913 124663913 G A SNP KLHL38 ENST00000325995 human ensembl 74_37 -1 known silent c.1254 p.P418 0.037 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 122 0 0 143 11 7.14286 ZFAT 0 genome.wustl.edu 37 8 135596140 135596140 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 135596140 135596140 A G SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.2822 p.M941T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 45 0 0 49 5 9.25926 ZFAT 0 genome.wustl.edu 37 8 135612794 135612794 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 135612794 135612794 C T SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.2360 p.R787H 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 288 1 0.346021 257 37 12.585 ZFAT 0 genome.wustl.edu 37 8 135614222 135614222 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 135614222 135614222 G A SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known silent c.1740 p.T580 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 50 0 0 62 11 15.0685 FAM135B 0 genome.wustl.edu 37 8 139164785 139164785 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 139164785 139164785 T G SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.1933 p.S645R 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 183 0 0 200 12 5.66038 SGCZ 0 genome.wustl.edu 37 8 13965704 13965704 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 13965704 13965704 C T SNP SGCZ ENST00000382080 human ensembl 74_37 -1 known silent c.588 p.P196 0.934 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 54 0 0 72 9 11.1111 COL22A1 0 genome.wustl.edu 37 8 139833475 139833475 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 139833475 139833475 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known silent c.1149 p.A383 0.052 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 94 0 0 111 12 9.7561 DENND3 0 genome.wustl.edu 37 8 142151345 142151345 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 142151345 142151345 C A SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.305 p.P102H 0.001 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 124 0 0 173 11 5.97826 SLC45A4 0 genome.wustl.edu 37 8 142221699 142221699 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 142221699 142221699 A T SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.2399 p.I800N 0.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 125 0 0 151 8 5.03145 TSNARE1 0 genome.wustl.edu 37 8 143399948 143399948 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 143399948 143399948 C G SNP TSNARE1 ENST00000307180 human ensembl 74_37 -1 known missense c.941 p.S314T 0.000 superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 170 0 0 188 10 5.05051 JRK 0 genome.wustl.edu 37 8 143747230 143747230 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 143747230 143747230 G A SNP JRK ENST00000422119 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors JRK HGNC ENSG00000234616 21 0 0 18 4 18.1818 CYP11B1 0 genome.wustl.edu 37 8 143957721 143957721 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 143957721 143957721 G A SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.890 p.A297V 0.006 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 58 0 0 51 12 19.0476 TOP1MT 0 genome.wustl.edu 37 8 144406745 144406745 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 144406745 144406745 G A SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known silent c.726 p.S242 0.000 pfam_TopoI_DNA-bd_euk,superfamily_TopoI_DNA-bd_euk,smart_TopoI_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 157 0 0 165 33 16.6667 FAM83H 0 genome.wustl.edu 37 8 144810854 144810854 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 144810854 144810854 C T SNP FAM83H ENST00000388913 human ensembl 74_37 -1 known silent c.777 p.A259 0.487 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83H HGNC ENSG00000180921 49 0 0 34 9 20.9302 EPPK1 0 genome.wustl.edu 37 8 144942069 144942069 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 144942069 144942069 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.5353 p.R1785C 0.022 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 107 0 0 92 29 23.9669 PLEC 0 genome.wustl.edu 37 8 144993399 144993399 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 144993399 144993399 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.11001 p.C3667 0.203 smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 115 1 0.862069 129 14 9.79021 GRINA 0 genome.wustl.edu 37 8 145066190 145066190 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 145066190 145066190 G A SNP GRINA ENST00000313269 human ensembl 74_37 +1 known missense c.637 p.V213I 0.997 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors GRINA HGNC ENSG00000178719 193 1 0.515464 184 44 19.2982 TONSL 0 genome.wustl.edu 37 8 145666225 145666225 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 145666225 145666225 G A SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.1040 p.P347L 0.995 pfscan_TPR-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 45 0 0 78 7 8.23529 LRRC14 0 genome.wustl.edu 37 8 145746672 145746672 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 145746672 145746672 C A SNP LRRC14 ENST00000292524 human ensembl 74_37 +1 known missense c.1292 p.P431H 0.999 NULL NULL - no_errors LRRC14 HGNC ENSG00000160959 51 0 0 68 6 8.10811 ARHGAP39 0 genome.wustl.edu 37 8 145770865 145770865 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 145770865 145770865 T C SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known silent c.2289 p.P763 0.017 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 41 0 0 49 10 16.9492 ARHGAP39 0 genome.wustl.edu 37 8 145773530 145773530 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 145773530 145773530 C T SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known missense c.940 p.E314K 1.000 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 48 0 0 63 13 17.1053 ZNF34 0 genome.wustl.edu 37 8 145999295 145999295 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 145999295 145999295 A G SNP ZNF34 ENST00000343459 human ensembl 74_37 -1 known missense c.1039 p.Y347H 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 ZNF34 HGNC ENSG00000196378 77 0 0 89 14 13.5922 ZNF16 0 genome.wustl.edu 37 8 146156790 146156790 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 146156790 146156790 G A SNP ZNF16 ENST00000276816 human ensembl 74_37 -1 known silent c.1383 p.H461 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 166 0 0 205 17 7.65766 ZNF16 0 genome.wustl.edu 37 8 146157713 146157713 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 146157713 146157713 C T SNP ZNF16 ENST00000276816 human ensembl 74_37 -1 known missense c.460 p.D154N 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 297 0 0 292 69 19.1136 MSR1 0 genome.wustl.edu 37 8 15978021 15978021 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 15978021 15978021 G A SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known silent c.1128 p.D376 0.196 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 129 1 0.769231 107 24 18.3206 MTUS1 0 genome.wustl.edu 37 8 17503472 17503472 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 17503472 17503472 G A SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.3776 p.S1259L 0.994 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 36 0 0 41 9 18 CSGALNACT1 0 genome.wustl.edu 37 8 19277935 19277935 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 19277935 19277935 T C SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.1048 p.S350G 0.994 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 268 0 0 276 56 16.8675 NPM2 0 genome.wustl.edu 37 8 21882970 21882970 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 21882970 21882970 C T SNP NPM2 ENST00000397940 human ensembl 74_37 +1 known missense c.82 p.R28W 0.020 superfamily_Nucleoplasmin_core_dom superfamily_Nucleoplasmin_core_dom - no_errors NPM2 HGNC ENSG00000158806 115 0 0 90 17 15.8879 PDLIM2 0 genome.wustl.edu 37 8 22452116 22452116 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 22452116 22452116 G A SNP PDLIM2 ENST00000265810 human ensembl 74_37 +1 known missense c.1055 p.R352Q 0.000 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDLIM2 HGNC ENSG00000120913 121 1 0.819672 135 32 19.1617 RHOBTB2 0 genome.wustl.edu 37 8 22868169 22868169 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 22868169 22868169 G A SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.1739 p.R580H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 150 0 0 128 32 20 CHMP7 0 genome.wustl.edu 37 8 23106740 23106740 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 23106740 23106740 G A SNP CHMP7 ENST00000313219 human ensembl 74_37 +1 known missense c.317 p.R106Q 1.000 NULL pfam_Snf7 - no_errors CHMP7 HGNC ENSG00000147457 111 0 0 106 24 18.4615 ENTPD4 0 genome.wustl.edu 37 8 23291937 23291937 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 23291937 23291937 C T SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known silent c.1515 p.S505 0.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 146 0 0 136 19 12.2581 ENTPD4 0 genome.wustl.edu 37 8 23292942 23292942 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 23292942 23292942 C T SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known missense c.1423 p.G475R 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 69 0 0 74 7 8.64198 ADAM28 0 genome.wustl.edu 37 8 24171018 24171018 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 24171018 24171018 C T SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known silent c.501 p.S167 0.012 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 174 1 0.571429 223 34 13.2296 ADAM28 0 genome.wustl.edu 37 8 24187564 24187564 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 24187564 24187564 A T SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known missense c.1039 p.M347L 0.997 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 235 0 0 195 41 17.3729 HMBOX1 0 genome.wustl.edu 37 8 28902895 28902895 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 28902895 28902895 A G SNP HMBOX1 ENST00000444075 human ensembl 74_37 +1 known missense c.869 p.Q290R 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HMBOX1 HGNC ENSG00000147421 226 0 0 189 10 5.02513 CSMD1 0 genome.wustl.edu 37 8 3245111 3245111 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 3245111 3245111 G T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2690 p.T897N 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 18 0 0 24 4 14.2857 UNC5D 0 genome.wustl.edu 37 8 35544067 35544067 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 35544067 35544067 T C SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known silent c.924 p.D308 0.776 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 125 0 0 124 35 22.0126 ASH2L 0 genome.wustl.edu 37 8 37967974 37967974 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 37967974 37967974 G A SNP ASH2L ENST00000343823 human ensembl 74_37 +1 known missense c.479 p.R160Q 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors ASH2L HGNC ENSG00000129691 149 0 0 143 22 13.3333 WHSC1L1 0 genome.wustl.edu 37 8 38175410 38175410 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 38175410 38175410 G A SNP WHSC1L1 ENST00000525081 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors WHSC1L1 HGNC ENSG00000147548 55 0 0 47 12 20.339 HTRA4 0 genome.wustl.edu 37 8 38840069 38840069 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 38840069 38840069 T C SNP HTRA4 ENST00000302495 human ensembl 74_37 +1 known silent c.1167 p.T389 0.118 superfamily_PDZ,smart_PDZ pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA4 HGNC ENSG00000169495 200 0 0 207 38 15.5102 ADAM32 0 genome.wustl.edu 37 8 39131867 39131867 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 39131867 39131867 C T SNP ADAM32 ENST00000379907 human ensembl 74_37 +1 known silent c.2238 p.S746 0.002 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 141 0 0 130 28 17.7215 ANK1 0 genome.wustl.edu 37 8 41522389 41522389 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 41522389 41522389 G A SNP ANK1 ENST00000314214 human ensembl 74_37 -1 known silent c.153 p.S51 0.783 NULL NULL - no_errors ANK1 HGNC ENSG00000029534 34 0 0 36 4 10 HOOK3 0 genome.wustl.edu 37 8 42812253 42812253 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 42812253 42812253 C A SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known missense c.485 p.S162Y 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 93 0 0 93 13 12.2642 HGSNAT 0 genome.wustl.edu 37 8 43048942 43048942 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 43048942 43048942 C A SNP HGSNAT ENST00000458501 human ensembl 74_37 +1 known missense c.1504 p.L502M 0.950 NULL pfam_DUF1624 - no_errors HGSNAT HGNC ENSG00000165102 169 0 0 176 24 12 SPIDR 0 genome.wustl.edu 37 8 48641512 48641512 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 48641512 48641512 G T SNP SPIDR ENST00000297423 human ensembl 74_37 +1 known missense c.2453 p.G818V 0.002 NULL NULL - no_errors SPIDR HGNC ENSG00000164808 134 0 0 128 12 8.57143 SNAI2 0 genome.wustl.edu 37 8 49832564 49832564 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 49832564 49832564 G A SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known silent c.516 p.G172 0.525 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 142 0 0 119 33 21.7105 NPBWR1 0 genome.wustl.edu 37 8 53852565 53852565 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 53852565 53852565 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.98 p.P33L 0.300 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 38 0 0 38 6 13.6364 RP1 0 genome.wustl.edu 37 8 55542602 55542602 + Missense_Mutation SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 55542602 55542602 C G SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.6160 p.L2054V 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 153 0 0 160 10 5.88235 TGS1 0 genome.wustl.edu 37 8 56723563 56723563 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 56723563 56723563 A G SNP TGS1 ENST00000260129 human ensembl 74_37 +1 known missense c.2267 p.K756R 0.998 pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 273 0 0 282 59 17.3021 NSMAF 0 genome.wustl.edu 37 8 59512542 59512542 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 59512542 59512542 G A SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known missense c.1412 p.T471M 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 184 0 0 162 35 17.7665 TOX 0 genome.wustl.edu 37 8 59872540 59872540 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 59872540 59872540 T G SNP TOX ENST00000361421 human ensembl 74_37 -1 known missense c.130 p.M44L 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 58 0 0 54 12 18.1818 CHD7 0 genome.wustl.edu 37 8 61769375 61769375 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 61769375 61769375 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.7536 p.R2512 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD7 HGNC ENSG00000171316 182 0 0 226 17 6.99588 CYP7B1 0 genome.wustl.edu 37 8 65527711 65527711 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 65527711 65527711 C T SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.929 p.R310Q 0.994 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 102 0 0 109 8 6.83761 ADHFE1 0 genome.wustl.edu 37 8 67369066 67369066 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 67369066 67369066 A G SNP ADHFE1 ENST00000396623 human ensembl 74_37 +1 known missense c.1001 p.Y334C 1.000 pfam_ADH_Fe pfam_ADH_Fe - no_errors ADHFE1 HGNC ENSG00000147576 104 0 0 99 13 11.6071 C8orf44 0 genome.wustl.edu 37 8 67590095 67590095 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 67590095 67590095 C T SNP C8orf44 ENST00000390159 human ensembl 74_37 +1 known missense c.152 p.A51V 0.003 NULL NULL - no_errors C8orf44 HGNC ENSG00000213865 31 0 0 47 4 7.84314 DEFA4 0 genome.wustl.edu 37 8 6794409 6794409 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 6794409 6794409 C T SNP DEFA4 ENST00000297435 human ensembl 74_37 -1 known missense c.13 p.A5T 0.000 pfam_Defensin_propep,pirsf_Alpha-defensin pfam_Defensin_propep,pfam_Mammalian_defensins,smart_Defensin_beta/neutrophil,pirsf_Alpha-defensin - no_errors DEFA4 HGNC ENSG00000164821 51 0 0 50 13 20.6349 ARFGEF1 0 genome.wustl.edu 37 8 68170430 68170430 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 68170430 68170430 G A SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known silent c.2331 p.F777 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 134 0 0 120 30 20 KCNB2 0 genome.wustl.edu 37 8 73849681 73849681 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 73849681 73849681 C T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known silent c.2091 p.T697 0.001 pfam_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 130 0 0 129 20 13.4228 TCEB1 0 genome.wustl.edu 37 8 74859040 74859040 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 74859040 74859040 T C SNP TCEB1 ENST00000520242 human ensembl 74_37 -1 known missense c.164 p.N55S 1.000 pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp - no_errors TCEB1 HGNC ENSG00000154582 104 0 0 108 25 18.797 HNF4G 0 genome.wustl.edu 37 8 76456166 76456166 + Missense_Mutation SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 76456166 76456166 A C SNP HNF4G ENST00000396423 human ensembl 74_37 +1 known missense c.209 p.K70T 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4G HGNC ENSG00000164749 210 0 0 220 40 15.3846 ZFHX4 0 genome.wustl.edu 37 8 77766792 77766792 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 77766792 77766792 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.7635 p.P2545 0.001 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 ZFHX4 HGNC ENSG00000091656 178 0 0 151 35 18.8172 ZFHX4 0 genome.wustl.edu 37 8 77767737 77767737 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 77767737 77767737 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.8580 p.C2860 0.524 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 ZFHX4 HGNC ENSG00000091656 68 0 0 68 11 13.9241 ZFHX4 0 genome.wustl.edu 37 8 77768336 77768336 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 77768336 77768336 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.9179 p.A3060V 1.000 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 ZFHX4 HGNC ENSG00000091656 118 0 0 135 22 14.0127 ZBTB10 0 genome.wustl.edu 37 8 81411872 81411872 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 81411872 81411872 A G SNP ZBTB10 ENST00000430430 human ensembl 74_37 +1 known silent c.1116 p.G372 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ENSG00000205189 107 0 0 141 16 10.1911 WWP1 0 genome.wustl.edu 37 8 87473498 87473498 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 87473498 87473498 T C SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known missense c.2545 p.F849L 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors WWP1 HGNC ENSG00000123124 192 0 0 173 22 11.2821 DCAF4L2 0 genome.wustl.edu 37 8 88885973 88885973 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 88885973 88885973 C T SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known missense c.227 p.R76H 0.161 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 172 0 0 189 14 6.89655 MMP16 0 genome.wustl.edu 37 8 89198806 89198806 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 89198806 89198806 G A SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known silent c.303 p.C101 1.000 pirsf_Pept_M10A_Metazoans,superfamily_Peptidoglycan-bd-like,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 312 0 0 281 81 22.3757 TNKS 0 genome.wustl.edu 37 8 9609295 9609295 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 9609295 9609295 C T SNP TNKS ENST00000310430 human ensembl 74_37 +1 known silent c.3009 p.A1003 0.370 NULL pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 197 0 0 189 13 6.43564 TDRD7 0 genome.wustl.edu 37 9 100245161 100245161 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 100245161 100245161 G A SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known missense c.2443 p.A815T 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 236 0 0 148 27 15.4286 ANKS6 0 genome.wustl.edu 37 9 101552841 101552841 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 101552841 101552841 T C SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known missense c.407 p.D136G 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 52 0 0 35 16 31.3725 COL15A1 0 genome.wustl.edu 37 9 101787222 101787222 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 101787222 101787222 T C SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.1921 p.F641L 0.988 pfam_Collagen pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 122 0 0 104 21 16.8 KIAA0368 0 genome.wustl.edu 37 9 114137450 114137450 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 114137450 114137450 G A SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known silent c.4587 p.G1529 0.655 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 76 0 0 55 22 28.5714 KIAA1958 0 genome.wustl.edu 37 9 115421992 115421992 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 115421992 115421992 G A SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known silent c.1878 p.T626 0.442 pfam_DUF3504 pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 56 0 0 52 13 20 RGS3 0 genome.wustl.edu 37 9 116246469 116246469 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 116246469 116246469 G A SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.577 p.V193I 0.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 119 0 0 94 24 20.339 TNC 0 genome.wustl.edu 37 9 117786296 117786296 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 117786296 117786296 G A SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.6451 p.R2151C 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 262 0 0 182 48 20.8696 ASTN2 0 genome.wustl.edu 37 9 119188284 119188284 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 119188284 119188284 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.3866 p.R1289H 0.999 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 36 0 0 28 9 24.3243 OR1L8 0 genome.wustl.edu 37 9 125330568 125330568 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 125330568 125330568 G C SNP OR1L8 ENST00000304865 human ensembl 74_37 -1 known missense c.189 p.F63L 0.957 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L8 HGNC ENSG00000171496 117 0 0 91 21 18.75 RABGAP1 0 genome.wustl.edu 37 9 125748541 125748541 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 125748541 125748541 G A SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known missense c.433 p.V145I 1.000 smart_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 181 0 0 132 41 23.6994 CRB2 0 genome.wustl.edu 37 9 126125190 126125190 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 126125190 126125190 C T SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known silent c.141 p.C47 0.000 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 133 0 0 125 36 22.3602 NR6A1 0 genome.wustl.edu 37 9 127495601 127495601 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 127495601 127495601 A G SNP NR6A1 ENST00000487099 human ensembl 74_37 -1 known missense c.128 p.L43P 0.997 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC ENSG00000148200 229 0 0 156 37 19.171 RABEPK 0 genome.wustl.edu 37 9 127994881 127994881 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 127994881 127994881 T C SNP RABEPK ENST00000373538 human ensembl 74_37 +1 known missense c.683 p.M228T 1.000 pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 85 0 0 95 9 8.65385 ST6GALNAC6 0 genome.wustl.edu 37 9 130656852 130656852 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 130656852 130656852 C T SNP ST6GALNAC6 ENST00000291839 human ensembl 74_37 -1 known missense c.236 p.R79Q 0.023 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 152 0 0 152 12 7.31707 WDR34 0 genome.wustl.edu 37 9 131399202 131399202 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 131399202 131399202 G A SNP WDR34 ENST00000372715 human ensembl 74_37 -1 known silent c.540 p.Y180 0.974 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR34 HGNC ENSG00000119333 39 0 0 23 5 17.8571 SET 0 genome.wustl.edu 37 9 131456213 131456213 + Missense_Mutation SNP A A T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 131456213 131456213 A T SNP SET ENST00000372692 human ensembl 74_37 +1 known missense c.741 p.E247D 0.995 NULL pfam_NAP_family - no_errors SET HGNC ENSG00000119335 111 0 0 93 28 23.1405 SH3GLB2 0 genome.wustl.edu 37 9 131784632 131784632 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 131784632 131784632 C T SNP SH3GLB2 ENST00000372554 human ensembl 74_37 -1 known missense c.134 p.R45Q 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB2 HGNC ENSG00000148341 48 0 0 38 10 20.8333 DOLPP1 0 genome.wustl.edu 37 9 131847046 131847046 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 131847046 131847046 C T SNP DOLPP1 ENST00000372546 human ensembl 74_37 +1 known missense c.176 p.T59M 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors DOLPP1 HGNC ENSG00000167130 305 0 0 225 65 22.4138 MPDZ 0 genome.wustl.edu 37 9 13217262 13217262 + Missense_Mutation SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 13217262 13217262 C A SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.1118 p.S373I 0.397 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 50 0 0 36 4 10 ASB6 0 genome.wustl.edu 37 9 132400635 132400635 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 132400635 132400635 T C SNP ASB6 ENST00000277458 human ensembl 74_37 -1 known missense c.700 p.M234V 0.043 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB6 HGNC ENSG00000148331 84 0 0 93 16 14.6789 FIBCD1 0 genome.wustl.edu 37 9 133779552 133779552 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 133779552 133779552 C T SNP FIBCD1 ENST00000372338 human ensembl 74_37 -1 known missense c.1285 p.A429T 0.998 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FIBCD1 HGNC ENSG00000130720 157 0 0 133 31 18.9024 PPAPDC3 0 genome.wustl.edu 37 9 134165480 134165480 + Silent SNP C C G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 134165480 134165480 C G SNP PPAPDC3 ENST00000372264 human ensembl 74_37 +1 known silent c.96 p.G32 0.265 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC3 HGNC ENSG00000160539 38 0 0 33 8 19.5122 NTNG2 0 genome.wustl.edu 37 9 135102370 135102370 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 135102370 135102370 G A SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.992 p.G331D 1.000 smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 13 0 0 26 6 18.75 TTF1 0 genome.wustl.edu 37 9 135251548 135251548 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 135251548 135251548 G A SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known silent c.2472 p.I824 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 122 0 0 81 26 24.2991 GTF3C4 0 genome.wustl.edu 37 9 135553527 135553527 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 135553527 135553527 G A SNP GTF3C4 ENST00000372146 human ensembl 74_37 +1 known missense c.521 p.C174Y 1.000 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 152 0 0 118 34 22.3684 CEL 0 genome.wustl.edu 37 9 135946427 135946427 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 135946427 135946427 C T SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.1547 p.T516M 0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 58 0 0 44 6 12 ADAMTS13 0 genome.wustl.edu 37 9 136304557 136304557 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 136304557 136304557 C T SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known silent c.1776 p.F592 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 181 0 0 168 37 18.0488 TMEM8C 0 genome.wustl.edu 37 9 136389958 136389958 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 136389958 136389958 C T SNP TMEM8C ENST00000339996 human ensembl 74_37 -1 known silent c.9 p.T3 0.017 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8C HGNC ENSG00000187616 73 0 0 65 18 21.6867 SARDH 0 genome.wustl.edu 37 9 136577755 136577755 + Silent SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 136577755 136577755 A G SNP SARDH ENST00000371872 human ensembl 74_37 -1 known silent c.1314 p.H438 0.964 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 53 0 0 40 17 29.8246 COL5A1 0 genome.wustl.edu 37 9 137660308 137660308 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 137660308 137660308 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.2285 p.P762L 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 155 0 0 125 15 10.7143 NOTCH1 0 genome.wustl.edu 37 9 139407849 139407849 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 139407849 139407849 A G SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.2348 p.F783S 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 30 0 0 20 10 33.3333 PHPT1 0 genome.wustl.edu 37 9 139745350 139745350 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 139745350 139745350 G A SNP PHPT1 ENST00000462205 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PHPT1 HGNC ENSG00000054148 51 0 0 33 5 13.1579 NSMF 0 genome.wustl.edu 37 9 140344457 140344457 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 140344457 140344457 C T SNP NSMF ENST00000371475 human ensembl 74_37 -1 known missense c.1337 p.R446H 1.000 NULL superfamily_P-loop_NTPase - no_errors NSMF HGNC ENSG00000165802 132 0 0 109 27 19.8529 CACNA1B 0 genome.wustl.edu 37 9 140773593 140773593 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 140773593 140773593 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known silent c.372 p.T124 0.754 NULL 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 CACNA1B HGNC ENSG00000148408 50 0 0 40 6 13.0435 CCDC171 0 genome.wustl.edu 37 9 15678851 15678851 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 15678851 15678851 A G SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.1172 p.Y391C 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 124 0 0 66 15 18.5185 BNC2 0 genome.wustl.edu 37 9 16582983 16582983 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 16582983 16582983 T C SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.431 p.H144R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 280 1 0.355872 199 49 19.7581 DENND4C 0 genome.wustl.edu 37 9 19346646 19346646 + Missense_Mutation SNP T T G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 19346646 19346646 T G SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.3732 p.S1244R 0.999 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 170 0 0 125 41 24.6988 FOCAD 0 genome.wustl.edu 37 9 20988400 20988400 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 20988400 20988400 C T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.4976 p.T1659I 0.004 pfam_DUF3028 pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 145 0 0 98 34 25.7576 CDKN2A 0 genome.wustl.edu 37 9 21971133 21971133 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 21971133 21971133 G A SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known missense c.391 p.R131C 0.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 15 0 0 9 4 30.7692 LINGO2 0 genome.wustl.edu 37 9 27950586 27950586 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 27950586 27950586 G A SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known silent c.84 p.C28 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 83 0 0 67 15 18.2927 DOCK8 0 genome.wustl.edu 37 9 311983 311983 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 311983 311983 C T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known silent c.558 p.C186 0.436 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 242 0 0 183 47 20.4348 TMEM215 0 genome.wustl.edu 37 9 32784413 32784413 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 32784413 32784413 C T SNP TMEM215 ENST00000342743 human ensembl 74_37 +1 known missense c.232 p.R78C 1.000 NULL NULL - no_errors TMEM215 HGNC ENSG00000188133 101 0 0 94 23 19.6581 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 58 0 0 58 12 17.1429 PTENP1 0 genome.wustl.edu 37 9 33675400 33675400 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 33675400 33675400 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 85 0 0 89 11 11 KIF24 0 genome.wustl.edu 37 9 34269331 34269331 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 34269331 34269331 T C SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known missense c.1367 p.E456G 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 153 1 0.649351 128 38 22.8916 KIAA1161 0 genome.wustl.edu 37 9 34371111 34371111 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 34371111 34371111 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known missense c.1729 p.R577W 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 20 0 0 16 5 23.8095 FBXO10 0 genome.wustl.edu 37 9 37532017 37532017 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 37532017 37532017 C T SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known silent c.1458 p.A486 0.293 superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 63 0 0 61 8 11.5942 GLIS3 0 genome.wustl.edu 37 9 4118541 4118541 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 4118541 4118541 C T SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known missense c.937 p.G313R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 98 0 0 117 29 19.863 JAK2 0 genome.wustl.edu 37 9 5065030 5065030 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 5065030 5065030 G A SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known missense c.1204 p.G402S 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 119 0 0 88 23 20.7207 RLN1 0 genome.wustl.edu 37 9 5335449 5335449 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 5335449 5335449 C T SNP RLN1 ENST00000223862 human ensembl 74_37 -1 known silent c.360 p.K120 0.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN1 HGNC ENSG00000107018 239 0 0 116 73 38.6243 TMC1 0 genome.wustl.edu 37 9 75420425 75420425 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 75420425 75420425 A G SNP TMC1 ENST00000297784 human ensembl 74_37 +1 known missense c.1694 p.Y565C 1.000 pfam_TMC pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 324 1 0.307692 246 77 23.839 ALDH1A1 0 genome.wustl.edu 37 9 75555148 75555148 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 75555148 75555148 C T SNP ALDH1A1 ENST00000297785 human ensembl 74_37 -1 known nonsense c.87 p.W29* 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 150 0 0 127 22 14.7651 NMRK1 0 genome.wustl.edu 37 9 77681726 77681726 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 77681726 77681726 T C SNP NMRK1 ENST00000361092 human ensembl 74_37 -1 known missense c.527 p.D176G 1.000 prints_Uridine_kinase superfamily_P-loop_NTPase,prints_Uridine_kinase - no_errors NMRK1 HGNC ENSG00000106733 203 0 0 164 38 18.8119 TMEM261 0 genome.wustl.edu 37 9 7798583 7798583 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 7798583 7798583 C T SNP TMEM261 ENST00000358227 human ensembl 74_37 -1 known missense c.329 p.R110H 0.021 NULL NULL - no_errors TMEM261 HGNC ENSG00000137038 105 0 0 94 20 17.5439 PRUNE2 0 genome.wustl.edu 37 9 79322121 79322121 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 79322121 79322121 T C SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.3992 p.D1331G 0.004 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 98 0 0 99 20 16.8067 PTPRD 0 genome.wustl.edu 37 9 8465548 8465548 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 8465548 8465548 T C SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.3632 p.Y1211C 1.000 NULL 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 - no_errors PTPRD HGNC ENSG00000153707 288 0 0 206 58 21.9697 KIF27 0 genome.wustl.edu 37 9 86457221 86457221 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 86457221 86457221 G A SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known missense c.3652 p.R1218W 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 120 0 0 85 27 24.1071 HABP4 0 genome.wustl.edu 37 9 99250411 99250411 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 99250411 99250411 G A SNP HABP4 ENST00000375249 human ensembl 74_37 +1 known missense c.1040 p.R347Q 1.000 NULL pfam_HABP4_PAIRBP1-bd - no_errors HABP4 HGNC ENSG00000130956 135 0 0 88 30 25.4237 ARL13A 0 genome.wustl.edu 37 X 100243452 100243452 + Missense_Mutation SNP G G C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 100243452 100243452 G C SNP ARL13A ENST00000450457 human ensembl 74_37 +1 known missense c.830 p.R277T 0.003 NULL pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR - no_errors ARL13A HGNC ENSG00000174225 57 0 0 20 7 25.9259 BHLHB9 0 genome.wustl.edu 37 X 102004167 102004167 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 102004167 102004167 G A SNP BHLHB9 ENST00000361229 human ensembl 74_37 +1 known missense c.244 p.G82S 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 108 0 0 72 19 20.8791 C1GALT1C1 0 genome.wustl.edu 37 X 119760722 119760722 + Silent SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 119760722 119760722 G A SNP C1GALT1C1 ENST00000304661 human ensembl 74_37 -1 known silent c.300 p.F100 1.000 NULL NULL - no_errors C1GALT1C1 HGNC ENSG00000171155 287 0 0 174 18 9.375 THOC2 0 genome.wustl.edu 37 X 122759791 122759791 + Missense_Mutation SNP T T A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 122759791 122759791 T A SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.3029 p.N1010I 1.000 pfam_THO_THOC2_C pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 219 0 0 133 35 20.8333 TENM1 0 genome.wustl.edu 37 X 123695633 123695633 + Silent SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 123695633 123695633 T C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known silent c.2322 p.R774 0.992 smart_EG-like_dom,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 204 0 0 134 45 25.1397 AIFM1 0 genome.wustl.edu 37 X 129272624 129272624 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 129272624 129272624 G A SNP AIFM1 ENST00000287295 human ensembl 74_37 -1 known missense c.911 p.T304M 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors AIFM1 HGNC ENSG00000156709 196 0 0 77 30 28.0374 USP26 0 genome.wustl.edu 37 X 132161368 132161368 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 132161368 132161368 C T SNP USP26 ENST00000370832 human ensembl 74_37 -1 known missense c.881 p.C294Y 0.032 pfam_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 153 1 0.649351 132 11 7.69231 FAM127A 0 genome.wustl.edu 37 X 134166475 134166475 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 134166475 134166475 G A SNP FAM127A ENST00000257013 human ensembl 74_37 +1 novel missense c.62 p.R21H 0.001 NULL NULL - no_errors FAM127A HGNC ENSG00000134590 96 0 0 77 6 7.22892 FAM127B 0 genome.wustl.edu 37 X 134186202 134186202 + RNA SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 134186202 134186202 G A SNP FAM127B ENST00000520964 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors FAM127B HGNC ENSG00000203950 21 0 0 16 8 33.3333 ZNF449 0 genome.wustl.edu 37 X 134494414 134494414 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 134494414 134494414 C T SNP ZNF449 ENST00000339249 human ensembl 74_37 +1 known nonsense c.970 p.R324* 0.107 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF449 HGNC ENSG00000173275 202 0 0 91 22 19.469 GPR112 0 genome.wustl.edu 37 X 135494507 135494507 + Nonsense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 135494507 135494507 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known nonsense c.9019 p.R3007* 0.008 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 90 0 0 65 5 7.14286 GABRA3 0 genome.wustl.edu 37 X 151366116 151366116 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 151366116 151366116 C T SNP GABRA3 ENST00000370314 human ensembl 74_37 -1 known missense c.920 p.R307H 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 111 0 0 69 22 24.1758 PNMA3 0 genome.wustl.edu 37 X 152226635 152226635 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 152226635 152226635 G A SNP PNMA3 ENST00000370264 human ensembl 74_37 +1 known missense c.1223 p.R408Q 0.000 superfamily_Znf_CCHC superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 159 0 0 84 33 28.2051 HAUS7 0 genome.wustl.edu 37 X 152721027 152721027 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 152721027 152721027 C T SNP HAUS7 ENST00000421080 human ensembl 74_37 -1 known missense c.398 p.R133H 0.016 NULL NULL - no_errors HAUS7 HGNC ENSG00000213397 48 0 0 33 13 28.2609 PHKA2 0 genome.wustl.edu 37 X 18913264 18913264 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 18913264 18913264 T C SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.3328 p.T1110A 0.998 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 227 0 0 141 38 21.2291 ZFX 0 genome.wustl.edu 37 X 24229411 24229411 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 24229411 24229411 A G SNP ZFX ENST00000540034 human ensembl 74_37 +1 known missense c.2453 p.E818G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 277 0 0 141 63 30.8824 MAGEB1 0 genome.wustl.edu 37 X 30268697 30268697 + Silent SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 30268697 30268697 C T SNP MAGEB1 ENST00000378981 human ensembl 74_37 +1 known silent c.87 p.H29 0.101 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 30 0 0 16 6 27.2727 DMD 0 genome.wustl.edu 37 X 31164461 31164461 + Missense_Mutation SNP C C T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 31164461 31164461 C T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.10868 p.S3623N 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 105 0 0 73 32 30.4762 CXorf36 0 genome.wustl.edu 37 X 45051067 45051067 + Missense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 45051067 45051067 G T SNP CXorf36 ENST00000398000 human ensembl 74_37 -1 known missense c.427 p.R143S 0.792 NULL NULL - no_errors CXorf36 HGNC ENSG00000147113 205 1 0.485437 152 32 17.3913 SLC9A7 0 genome.wustl.edu 37 X 46513103 46513103 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 46513103 46513103 G A SNP SLC9A7 ENST00000328306 human ensembl 74_37 -1 known missense c.1085 p.A362V 0.997 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 131 0 0 86 24 21.8182 CDK16 0 genome.wustl.edu 37 X 47085414 47085414 + Missense_Mutation SNP G G A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 47085414 47085414 G A SNP CDK16 ENST00000276052 human ensembl 74_37 +1 known missense c.1002 p.M334I 1.000 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 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 CDK16 HGNC ENSG00000102225 23 0 0 15 4 21.0526 MAGED1 0 genome.wustl.edu 37 X 51638686 51638686 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 51638686 51638686 A G SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.751 p.T251A 0.558 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 32 0 0 19 6 24 SSX7 0 genome.wustl.edu 37 X 52677309 52677309 + Splice_Site SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 52677309 52677309 A G SNP SSX7 ENST00000298181 human ensembl 74_37 -1 known splice_site c.466+2 e5+2 0.013 - - - no_errors SSX7 HGNC ENSG00000187754 286 0 0 175 61 25.8475 LAS1L 0 genome.wustl.edu 37 X 64749749 64749749 + Missense_Mutation SNP A A G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 64749749 64749749 A G SNP LAS1L ENST00000374811 human ensembl 74_37 -1 known missense c.524 p.F175S 0.861 pfam_Las1 pfam_Las1 - no_errors LAS1L HGNC ENSG00000001497 142 0 0 74 20 21.2766 MIR325 0 genome.wustl.edu 37 X 76225900 76225900 + RNA SNP A A C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 76225900 76225900 A C SNP MIR325 ENST00000385260 human ensembl 74_37 -1 known rna NULL NULL 0.239 - - - no_errors MIR325 HGNC ENSG00000207995 327 0 0 150 43 22.2798 PGAM4 0 genome.wustl.edu 37 X 77224579 77224579 + Missense_Mutation SNP T T C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 77224579 77224579 T C SNP PGAM4 ENST00000458128 human ensembl 74_37 -1 known missense c.557 p.H186R 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM4 HGNC ENSG00000226784 306 0 0 154 67 30.3167 CYLC1 0 genome.wustl.edu 37 X 83141586 83141586 + Silent SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 83141586 83141586 G T SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known silent c.1950 p.L650 0.984 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 187 0 0 113 26 18.705 PCDH11X 0 genome.wustl.edu 37 X 91133388 91133388 + Nonsense_Mutation SNP G G T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 91133388 91133388 G T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known nonsense c.2149 p.G717* 0.987 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 182 0 0 110 33 23.0769 DBT 0 genome.wustl.edu 37 1 100684226 100684226 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 100684226 100684226 T - DEL DBT ENST00000370132 human ensembl 74_37 -1 known frame_shift_del c.511 p.T171fs 1.000 pfam_E3-bd,superfamily_E3-bd pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors DBT HGNC ENSG00000137992 363 0 0 286 58 16.8605 MTOR 0 genome.wustl.edu 37 1 11273546 11273547 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 11273546 11273547 - C INS MTOR ENST00000361445 human ensembl 74_37 -1 known frame_shift_ins c.3195_3194 p.E1066fs 0.918:1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 159 0 0 125 28 18.3007 MIIP 0 genome.wustl.edu 37 1 12089171 12089173 + In_Frame_Del DEL AGG AGG - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 12089171 12089173 AGG - DEL MIIP ENST00000235332 human ensembl 74_37 +1 known in_frame_del c.629_631 p.E212in_frame_del 0.955:0.994:1.000 NULL NULL - no_errors MIIP HGNC ENSG00000116691 57 0 0 64 5 7.24638 AADACL3 0 genome.wustl.edu 37 1 12785494 12785494 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 12785494 12785494 G - DEL AADACL3 ENST00000359318 human ensembl 74_37 +1 known frame_shift_del c.584 p.C195fs 0.040 NULL pfam_AB_hydrolase_3 - no_errors AADACL3 HGNC ENSG00000188984 331 0 0 321 50 13.4771 BCL9 0 genome.wustl.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 147091501 147091501 C - DEL BCL9 ENST00000234739 human ensembl 74_37 +1 known frame_shift_del c.1540 p.P516fs 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 166 0 0 137 61 30.8081 SV2A 0 genome.wustl.edu 37 1 149884981 149884981 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 149884981 149884981 C - DEL SV2A ENST00000369146 human ensembl 74_37 -1 known frame_shift_del c.412 p.E138fs 0.998 tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 75 0 0 93 18 16.2162 MTMR11 0 genome.wustl.edu 37 1 149900986 149900988 + RNA DEL AAA AAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 149900986 149900988 AAA - DEL MTMR11 ENST00000466496 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.002:0.003 - - - no_errors MTMR11 HGNC ENSG00000014914 111 0 0 94 20 17.5439 RPRD2 0 genome.wustl.edu 37 1 150445612 150445612 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 150445612 150445612 C - DEL RPRD2 ENST00000369068 human ensembl 74_37 +1 known frame_shift_del c.4188 p.L1399fs 0.993 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 98 0 0 91 9 9 TNFAIP8L2 0 genome.wustl.edu 37 1 151131332 151131333 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 151131332 151131333 - C INS TNFAIP8L2 ENST00000368910 human ensembl 74_37 +1 known frame_shift_ins c.159_160 p.Q54fs 0.989:0.969 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L2 HGNC ENSG00000163154 72 0 0 76 9 10.5882 CHTOP 0 genome.wustl.edu 37 1 153617576 153617581 + In_Frame_Del DEL GAGGCC GAGGCC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 GAGGCC GAGGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 153617576 153617581 GAGGCC - DEL CHTOP ENST00000368694 human ensembl 74_37 +1 known in_frame_del c.578_583 p.RG197in_frame_del 1.000:0.977:0.997:0.991:0.063:0.056 NULL NULL - no_errors CHTOP HGNC ENSG00000160679 95 0 0 84 8 8.69565 UBE2Q1 0 genome.wustl.edu 37 1 154524458 154524459 + RNA DEL GA GA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 154524458 154524459 GA - DEL UBE2Q1 ENST00000474181 human ensembl 74_37 -1 known rna NULL NULL 0.187:0.017 - - - no_errors UBE2Q1 HGNC ENSG00000160714 80 0 0 103 22 17.6 EFNA3 0 genome.wustl.edu 37 1 155059036 155059036 + RNA DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 155059036 155059036 G - DEL EFNA3 ENST00000470294 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EFNA3 HGNC ENSG00000143590 115 0 0 104 21 16.8 ASH1L 0 genome.wustl.edu 37 1 155308000 155308000 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 155308000 155308000 T - DEL ASH1L ENST00000368346 human ensembl 74_37 -1 known frame_shift_del c.8698 p.T2900fs 0.002 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 308 2 0.645161 224 62 21.6783 INSRR 0 genome.wustl.edu 37 1 156819062 156819062 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 156819062 156819062 G - DEL INSRR ENST00000368195 human ensembl 74_37 -1 known frame_shift_del c.1420 p.R474fs 0.970 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 102 0 0 83 21 20.1923 KIRREL 0 genome.wustl.edu 37 1 158058203 158058203 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 158058203 158058203 C - DEL KIRREL ENST00000368173 human ensembl 74_37 +1 known frame_shift_del c.1003 p.L337fs 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 182 0 0 161 32 16.5803 POU2F1 0 genome.wustl.edu 37 1 167385179 167385181 + RNA DEL AAA AAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 167385179 167385181 AAA - DEL POU2F1 ENST00000367865 human ensembl 74_37 +1 known rna NULL NULL 0.090:0.002:0.000 - - - no_errors POU2F1 HGNC ENSG00000143190 13 0 0 11 4 26.6667 PAPPA2 0 genome.wustl.edu 37 1 176762723 176762724 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 176762723 176762724 - C INS PAPPA2 ENST00000367662 human ensembl 74_37 +1 known frame_shift_ins c.5048_5049 p.S1686fs 0.498:0.506 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,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 PAPPA2 HGNC ENSG00000116183 114 0 0 100 15 13.0435 KIAA1614 0 genome.wustl.edu 37 1 180904834 180904835 + Frame_Shift_Del DEL AC AC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 180904834 180904835 AC - DEL KIAA1614 ENST00000367588 human ensembl 74_37 +1 known frame_shift_del c.1789_1790 p.I599fs 0.999:0.996 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 38 0 0 34 6 15 HMCN1 0 genome.wustl.edu 37 1 186083133 186083133 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 186083133 186083133 C - DEL HMCN1 ENST00000271588 human ensembl 74_37 +1 known frame_shift_del c.11154 p.Q3720fs 0.991 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 418 0 0 350 51 12.7182 UBR4 0 genome.wustl.edu 37 1 19467923 19467923 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 19467923 19467923 G - DEL UBR4 ENST00000375267 human ensembl 74_37 -1 known frame_shift_del c.8406 p.M2803fs 0.484 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 100 0 0 111 9 7.5 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 195 0 0 127 25 16.4474 PTPN7 0 genome.wustl.edu 37 1 202128473 202128473 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 202128473 202128473 C - DEL PTPN7 ENST00000309017 human ensembl 74_37 -1 known frame_shift_del c.373 p.A125fs 0.995 NULL pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN7 HGNC ENSG00000143851 50 0 0 44 13 22.807 LAMB3 0 genome.wustl.edu 37 1 209790820 209790820 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 209790820 209790820 C - DEL LAMB3 ENST00000356082 human ensembl 74_37 -1 known frame_shift_del c.3163 p.A1055fs 0.980 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 138 0 0 107 14 11.5702 PROX1 0 genome.wustl.edu 37 1 214178556 214178556 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 214178556 214178556 T - DEL PROX1 ENST00000261454 human ensembl 74_37 +1 known frame_shift_del c.1774 p.Y594fs 1.000 pfam_Homeo_prospero_dom,superfamily_Homeodomain-like pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 160 0 0 104 18 14.7541 USP48 0 genome.wustl.edu 37 1 22033386 22033388 + In_Frame_Del DEL AAA AAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 22033386 22033388 AAA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel in_frame_del c.1975_1973 p.F658in_frame_del 0.000:0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 63 0 0 57 25 30.4878 TP53BP2 0 genome.wustl.edu 37 1 223998198 223998199 + Frame_Shift_Del DEL GA GA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 223998198 223998199 GA - DEL TP53BP2 ENST00000343537 human ensembl 74_37 -1 known frame_shift_del c.307_306 p.Q103fs 0.998:0.882 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 34 0 0 25 7 21.875 TP53BP2 0 genome.wustl.edu 37 1 224001956 224001956 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 224001956 224001956 G - DEL TP53BP2 ENST00000343537 human ensembl 74_37 -1 known frame_shift_del c.275 p.P92fs 0.998 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 177 0 0 141 32 18.4971 C1QA 0 genome.wustl.edu 37 1 22965531 22965531 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 22965531 22965531 C - DEL C1QA ENST00000374642 human ensembl 74_37 +1 known frame_shift_del c.369 p.P125fs 0.886 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QA HGNC ENSG00000173372 43 0 0 38 13 25.4902 CHRM3 0 genome.wustl.edu 37 1 240072444 240072444 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 240072444 240072444 A - DEL CHRM3 ENST00000255380 human ensembl 74_37 +1 known frame_shift_del c.1693 p.K567fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 117 0 0 78 19 19.5876 TCEB3 0 genome.wustl.edu 37 1 24078404 24078404 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 24078404 24078404 A - DEL TCEB3 ENST00000418390 human ensembl 74_37 +1 known frame_shift_del c.1387 p.N465fs 0.998 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 237 0 0 189 43 18.5345 OR2M4 0 genome.wustl.edu 37 1 248402758 248402758 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 248402758 248402758 C - DEL OR2M4 ENST00000306687 human ensembl 74_37 +1 known frame_shift_del c.528 p.F178fs 0.008 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M4 HGNC ENSG00000171180 379 0 0 271 57 17.378 OR14I1 0 genome.wustl.edu 37 1 248844882 248844882 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 248844882 248844882 G - DEL OR14I1 ENST00000342623 human ensembl 74_37 -1 known frame_shift_del c.724 p.Q242fs 0.920 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 159 0 0 125 27 17.7632 TMEM57 0 genome.wustl.edu 37 1 25775375 25775375 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 25775375 25775375 T - DEL TMEM57 ENST00000374343 human ensembl 74_37 +1 known frame_shift_del c.299 p.F102fs 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 158 1 0.628931 145 32 18.0791 AUNIP 0 genome.wustl.edu 37 1 26163989 26163992 + Frame_Shift_Del DEL CTTT CTTT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CTTT CTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 26163989 26163992 CTTT - DEL AUNIP ENST00000538789 human ensembl 74_37 -1 known frame_shift_del c.135_132 p.K45fs 0.057:0.157:0.174:0.281 NULL NULL - no_errors AUNIP HGNC ENSG00000127423 177 0 0 132 19 12.5828 ARID1A 0 genome.wustl.edu 37 1 27101612 27101612 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 27101612 27101612 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.4894 p.M1634fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 137 0 0 128 22 14.6667 WDTC1 0 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 65 0 0 40 13 24.5283 NCDN 0 genome.wustl.edu 37 1 36026091 36026092 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 36026091 36026092 - T INS NCDN ENST00000356090 human ensembl 74_37 +1 known frame_shift_ins c.339_340 p.C114fs 1.000:1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 235 0 0 199 57 22.2656 CCDC27 0 genome.wustl.edu 37 1 3688025 3688025 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 3688025 3688025 C - DEL CCDC27 ENST00000294600 human ensembl 74_37 +1 known frame_shift_del c.1909 p.L639fs 0.211 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 144 0 0 128 9 6.56934 ENSG00000236546 0 genome.wustl.edu 37 1 40363690 40363693 + RNA DEL ACAA ACAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 40363690 40363693 ACAA - DEL ENSG00000236546 ENST00000418255 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.001:0.000:0.000 - - - no_errors RP1-118J21.5 Clone_based_vega_gene ENSG00000236546 46 0 0 63 10 13.6986 MED8 0 genome.wustl.edu 37 1 43850143 43850143 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 43850143 43850143 T - DEL MED8 ENST00000290663 human ensembl 74_37 -1 known frame_shift_del c.884 p.N295fs 0.000 NULL pfam_Mediatior_Med8_fun/met - no_errors MED8 HGNC ENSG00000159479 25 0 0 12 7 36.8421 UROD 0 genome.wustl.edu 37 1 45479967 45479967 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 45479967 45479967 T - DEL UROD ENST00000472254 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors UROD HGNC ENSG00000126088 47 0 0 26 26 50 TSPAN1 0 genome.wustl.edu 37 1 46650191 46650192 + RNA INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 46650191 46650192 - G INS TSPAN1 ENST00000482143 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TSPAN1 HGNC ENSG00000117472 160 0 0 131 37 22.0238 TXNDC12 0 genome.wustl.edu 37 1 52493022 52493023 + Splice_Site INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 52493022 52493023 - G INS TXNDC12 ENST00000371626 human ensembl 74_37 -1 known splice_site_ins c.212-3_212-2 e4-2 0.998:0.000 - - - no_errors TXNDC12 HGNC ENSG00000117862 112 0 0 102 10 8.92857 PRPF38A 0 genome.wustl.edu 37 1 52882466 52882466 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 52882466 52882466 T - DEL PRPF38A ENST00000474048 human ensembl 74_37 +1 known rna NULL NULL 0.163 - - - no_errors PRPF38A HGNC ENSG00000134748 29 0 0 22 3 12 PODN 0 genome.wustl.edu 37 1 53543377 53543377 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 53543377 53543377 C - DEL PODN ENST00000312553 human ensembl 74_37 +1 known frame_shift_del c.903 p.P303fs 0.997 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 249 0 0 207 24 10.3896 PODN 0 genome.wustl.edu 37 1 53544350 53544350 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 53544350 53544350 A - DEL PODN ENST00000312553 human ensembl 74_37 +1 known frame_shift_del c.1312 p.N438fs 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 220 0 0 179 23 11.3861 TMEM59 0 genome.wustl.edu 37 1 54502396 54502396 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 54502396 54502396 A - DEL TMEM59 ENST00000470395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM59 HGNC ENSG00000116209 30 0 0 27 7 20.5882 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 94 0 0 70 13 15.6627 USP1 0 genome.wustl.edu 37 1 62916272 62916272 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 62916272 62916272 A - DEL USP1 ENST00000339950 human ensembl 74_37 +1 known frame_shift_del c.1978 p.N662fs 1.000 pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP1 HGNC ENSG00000162607 141 0 0 105 34 24.4604 ANGPTL3 0 genome.wustl.edu 37 1 63063625 63063626 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 63063625 63063626 - A INS ANGPTL3 ENST00000371129 human ensembl 74_37 +1 known frame_shift_ins c.388_389 p.I132fs 1.000:1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL3 HGNC ENSG00000132855 113 0 0 92 29 23.9669 JAK1 0 genome.wustl.edu 37 1 65311293 65311293 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 65311293 65311293 C - DEL JAK1 ENST00000342505 human ensembl 74_37 -1 known frame_shift_del c.2018 p.G673fs 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 259 0 0 206 32 13.4454 C1orf141 0 genome.wustl.edu 37 1 67561988 67561988 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 67561988 67561988 T - DEL C1orf141 ENST00000371006 human ensembl 74_37 -1 known frame_shift_del c.363 p.K121fs 0.000 NULL NULL - no_errors C1orf141 HGNC ENSG00000203963 65 0 0 40 7 14.8936 LRRIQ3 0 genome.wustl.edu 37 1 74575213 74575213 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 74575213 74575213 T - DEL LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known frame_shift_del c.732 p.K244fs 0.004 pfscan_IQ_motif_EF-hand-BS pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 135 1 0.735294 91 34 27.2 FUBP1 0 genome.wustl.edu 37 1 78426185 78426185 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 78426185 78426185 A - DEL FUBP1 ENST00000470287 human ensembl 74_37 -1 known rna NULL NULL 0.567 - - - no_errors FUBP1 HGNC ENSG00000162613 25 0 0 23 3 11.5385 PRKACB 0 genome.wustl.edu 37 1 84647913 84647913 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 84647913 84647913 A - DEL PRKACB ENST00000370685 human ensembl 74_37 +1 known frame_shift_del c.280 p.T96fs 1.000 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 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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACB HGNC ENSG00000142875 133 0 0 85 19 18.2692 PKN2 0 genome.wustl.edu 37 1 89206848 89206848 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 89206848 89206848 A - DEL PKN2 ENST00000370521 human ensembl 74_37 +1 known frame_shift_del c.226 p.S78fs 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 71 0 0 55 10 15.3846 GBP1 0 genome.wustl.edu 37 1 89523904 89523904 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 89523904 89523904 T - DEL GBP1 ENST00000370473 human ensembl 74_37 -1 known frame_shift_del c.645 p.D216fs 0.001 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 511 0 0 421 82 16.3022 GBP7 0 genome.wustl.edu 37 1 89613321 89613322 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 89613321 89613322 - C INS GBP7 ENST00000294671 human ensembl 74_37 -1 known frame_shift_ins c.1294_1293 p.H431fs 0.980:0.994 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP7 HGNC ENSG00000213512 311 0 0 249 42 14.433 MTF2 0 genome.wustl.edu 37 1 93599280 93599280 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 93599280 93599280 A - DEL MTF2 ENST00000370298 human ensembl 74_37 +1 known frame_shift_del c.1181 p.G397fs 0.994 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 81 0 0 63 14 18.1818 MTF2 0 genome.wustl.edu 37 1 93602676 93602679 + RNA DEL AAAA AAAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 93602676 93602679 AAAA - DEL MTF2 ENST00000467953 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.997:0.993:0.908 - - - no_errors MTF2 HGNC ENSG00000143033 32 0 0 23 7 23.3333 DPYD 0 genome.wustl.edu 37 1 98165042 98165043 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 1 98165042 98165043 - T INS DPYD ENST00000370192 human ensembl 74_37 -1 known frame_shift_ins c.545_544 p.M182fs 1.000:1.000 superfamily_Helical_ferredxn pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 387 0 0 278 50 15.2439 CWF19L1 0 genome.wustl.edu 37 10 101992924 101992926 + RNA DEL AAA AAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 101992924 101992926 AAA - DEL CWF19L1 ENST00000468709 human ensembl 74_37 -1 known rna NULL NULL 0.167:0.180:0.200 - - - no_errors CWF19L1 HGNC ENSG00000095485 94 0 0 47 26 35.6164 SEC31B 0 genome.wustl.edu 37 10 102265160 102265160 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 102265160 102265160 T - DEL SEC31B ENST00000370345 human ensembl 74_37 -1 known frame_shift_del c.1137 p.K379fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 375 0 0 305 56 15.5125 C10orf2 0 genome.wustl.edu 37 10 102748985 102748985 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 102748985 102748985 C - DEL C10orf2 ENST00000311916 human ensembl 74_37 +1 known frame_shift_del c.1018 p.R341fs 1.000 superfamily_P-loop_NTPase pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 105 0 0 112 16 12.5 GBF1 0 genome.wustl.edu 37 10 104120909 104120909 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 104120909 104120909 A - DEL GBF1 ENST00000476019 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GBF1 HGNC ENSG00000107862 104 0 0 73 39 34.8214 CYP17A1 0 genome.wustl.edu 37 10 104593888 104593889 + RNA INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 104593888 104593889 - A INS CYP17A1 ENST00000489268 human ensembl 74_37 -1 known rna NULL NULL 0.045:0.620 - - - no_errors CYP17A1 HGNC ENSG00000148795 88 0 0 43 10 18.8679 COL17A1 0 genome.wustl.edu 37 10 105819448 105819448 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 105819448 105819448 T - DEL COL17A1 ENST00000353479 human ensembl 74_37 -1 known frame_shift_del c.1170 p.E391fs 0.999 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 247 0 0 169 11 6.11111 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 111893350 111893350 A - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095 p.K701fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 138 0 0 119 20 14.3885 RAB11FIP2 0 genome.wustl.edu 37 10 119799791 119799792 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 119799791 119799792 - T INS RAB11FIP2 ENST00000369199 human ensembl 74_37 -1 known frame_shift_ins c.639_638 p.P214fs 1.000:1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP2 HGNC ENSG00000107560 333 0 0 262 17 6.09319 RAB11FIP2 0 genome.wustl.edu 37 10 119805326 119805326 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 119805326 119805326 T - DEL RAB11FIP2 ENST00000369199 human ensembl 74_37 -1 known frame_shift_del c.349 p.T117fs 1.000 superfamily_C2_dom,smart_C2_dom pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP2 HGNC ENSG00000107560 101 0 0 74 11 12.9412 TIAL1 0 genome.wustl.edu 37 10 121335157 121335157 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 121335157 121335157 T - DEL TIAL1 ENST00000463089 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors TIAL1 HGNC ENSG00000151923 360 0 0 215 100 31.746 OAT 0 genome.wustl.edu 37 10 126100644 126100644 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 126100644 126100644 T - DEL OAT ENST00000368845 human ensembl 74_37 -1 known frame_shift_del c.97 p.T33fs 0.675 NULL pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans - no_errors OAT HGNC ENSG00000065154 133 0 0 97 25 20.4918 DPYSL4 0 genome.wustl.edu 37 10 134017254 134017254 + RNA DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 134017254 134017254 C - DEL DPYSL4 ENST00000471544 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors DPYSL4 HGNC ENSG00000151640 31 0 0 29 15 34.0909 PTER 0 genome.wustl.edu 37 10 16547037 16547038 + Frame_Shift_Del DEL AG AG - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 16547037 16547038 AG - DEL PTER ENST00000298942 human ensembl 74_37 +1 known frame_shift_del c.717_718 p.E240fs 0.996:1.000 pfam_Aryldialkylphosphatase,pfam_TatD_family pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC ENSG00000165983 236 0 0 193 27 12.2727 CUBN 0 genome.wustl.edu 37 10 17113554 17113554 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 17113554 17113554 A - DEL CUBN ENST00000377833 human ensembl 74_37 -1 known frame_shift_del c.2496 p.P833fs 0.996 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 - no_errors CUBN HGNC ENSG00000107611 108 0 0 81 10 10.989 KIAA1217 0 genome.wustl.edu 37 10 24762792 24762792 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 24762792 24762792 C - DEL KIAA1217 ENST00000376454 human ensembl 74_37 +1 known frame_shift_del c.1482 p.P496fs 0.767 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 104 0 0 92 8 8 MYO3A 0 genome.wustl.edu 37 10 26462759 26462760 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 26462759 26462760 - A INS MYO3A ENST00000265944 human ensembl 74_37 +1 known frame_shift_ins c.3566_3567 p.M1192fs 0.034:0.509 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 130 0 0 90 23 20.354 MASTL 0 genome.wustl.edu 37 10 27459056 27459056 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 27459056 27459056 A - DEL MASTL ENST00000375940 human ensembl 74_37 +1 known frame_shift_del c.1168 p.K391fs 0.077 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_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 MASTL HGNC ENSG00000120539 181 0 0 141 23 14.0244 SVIL 0 genome.wustl.edu 37 10 29812506 29812506 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 29812506 29812506 C - DEL SVIL ENST00000355867 human ensembl 74_37 -1 known frame_shift_del c.3037 p.D1013fs 0.054 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 159 0 0 120 21 14.8936 FAM208B 0 genome.wustl.edu 37 10 5766449 5766449 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 5766449 5766449 G - DEL FAM208B ENST00000328090 human ensembl 74_37 +1 known frame_shift_del c.304 p.E103fs 0.996 pfam_DUF3699 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 142 0 0 115 17 12.8788 ANXA7 0 genome.wustl.edu 37 10 75135834 75135836 + RNA DEL AAA AAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 75135834 75135836 AAA - DEL ANXA7 ENST00000463788 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004:0.005 - - - no_errors ANXA7 HGNC ENSG00000138279 14 0 0 9 6 40 ADK 0 genome.wustl.edu 37 10 76158266 76158266 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 76158266 76158266 A - DEL ADK ENST00000286621 human ensembl 74_37 +1 known frame_shift_del c.484 p.K163fs 1.000 pfam_PfkB_dom pfam_PfkB_dom,prints_Adenokinase - no_errors ADK HGNC ENSG00000156110 113 0 0 90 25 21.7391 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 170 0 0 124 24 16.2162 PTEN 0 genome.wustl.edu 37 10 89717769 89717770 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 89717769 89717770 - A INS PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_ins c.794_795 p.D268fs 1.000:0.994 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 152 0 0 106 29 21.4815 PTEN 0 genome.wustl.edu 37 10 89717770 89717770 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 89717770 89717770 A - DEL PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_del c.795 p.K267fs 0.994 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 152 0 0 118 17 12.5926 IDE 0 genome.wustl.edu 37 10 94243045 94243045 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 94243045 94243045 A - DEL IDE ENST00000265986 human ensembl 74_37 -1 known frame_shift_del c.1706 p.L569fs 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 70 0 0 64 11 14.6667 CYP26A1 0 genome.wustl.edu 37 10 94837049 94837050 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 94837049 94837050 - G INS CYP26A1 ENST00000224356 human ensembl 74_37 +1 known frame_shift_ins c.1482_1483 p.E495fs 0.989:0.992 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 103 0 0 81 20 19.802 ZNF518A 0 genome.wustl.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 97918856 97918856 A - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 118 0 0 89 57 39.0411 PIK3AP1 0 genome.wustl.edu 37 10 98362066 98362066 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 98362066 98362066 G - DEL PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known frame_shift_del c.2331 p.R778fs 0.998 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 100 0 0 84 8 8.69565 RRP12 0 genome.wustl.edu 37 10 99120328 99120330 + In_Frame_Del DEL CTC CTC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 10 99120328 99120330 CTC - DEL RRP12 ENST00000370992 human ensembl 74_37 -1 known in_frame_del c.3615_3613 p.E1205in_frame_del 1.000:1.000:0.991 NULL pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 145 0 0 123 20 13.986 DCUN1D5 0 genome.wustl.edu 37 11 102962501 102962501 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 102962501 102962501 G - DEL DCUN1D5 ENST00000529281 human ensembl 74_37 -1 known frame_shift_del c.101 p.P34fs 0.139 NULL NULL - no_errors DCUN1D5 HGNC ENSG00000137692 90 0 0 73 14 16.092 MSANTD4 0 genome.wustl.edu 37 11 105880739 105880739 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 105880739 105880739 A - DEL MSANTD4 ENST00000301919 human ensembl 74_37 -1 known frame_shift_del c.561 p.F187fs 0.903 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 232 0 0 177 44 19.9095 CWF19L2 0 genome.wustl.edu 37 11 107299981 107299981 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 107299981 107299981 T - DEL CWF19L2 ENST00000282251 human ensembl 74_37 -1 known frame_shift_del c.977 p.N326fs 0.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 119 0 0 107 17 13.7097 DDX6 0 genome.wustl.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 118629613 118629614 - G INS DDX6 ENST00000264018 human ensembl 74_37 -1 known splice_site_ins c.865-3_865-2 e8-2 1.000:0.856 - - - no_errors DDX6 HGNC ENSG00000110367 268 0 0 240 29 10.7807 DPAGT1 0 genome.wustl.edu 37 11 118969143 118969143 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 118969143 118969143 A - DEL DPAGT1 ENST00000354202 human ensembl 74_37 -1 known frame_shift_del c.698 p.F233fs 1.000 pfam_Glycosyl_transferase_4 pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 200 1 0.497512 161 28 14.8148 MFRP 0 genome.wustl.edu 37 11 119213688 119213688 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 119213688 119213688 G - DEL MFRP ENST00000449574 human ensembl 74_37 -1 known frame_shift_del c.1150 p.H384fs 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 26 0 0 21 2 8.69565 MFRP 0 genome.wustl.edu 37 11 119216273 119216273 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 119216273 119216273 G - DEL MFRP ENST00000449574 human ensembl 74_37 -1 known frame_shift_del c.498 p.N167fs 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 72 0 0 95 11 10.3774 SORL1 0 genome.wustl.edu 37 11 121475905 121475905 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 121475905 121475905 A - DEL SORL1 ENST00000260197 human ensembl 74_37 +1 known frame_shift_del c.4735 p.M1581fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 253 0 0 197 36 15.4506 ARHGAP32 0 genome.wustl.edu 37 11 128851757 128851757 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 128851757 128851757 T - DEL ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known frame_shift_del c.1559 p.N520fs 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 141 0 0 107 24 18.3206 NFRKB 0 genome.wustl.edu 37 11 129752496 129752496 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 129752496 129752496 T - DEL NFRKB ENST00000524794 human ensembl 74_37 -1 known frame_shift_del c.1007 p.K336fs 1.000 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 149 1 0.666667 143 26 15.3846 KCNC1 0 genome.wustl.edu 37 11 17794004 17794004 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 17794004 17794004 A - DEL KCNC1 ENST00000265969 human ensembl 74_37 +1 known frame_shift_del c.1363 p.K457fs 1.000 prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 98 0 0 105 17 13.9344 SPTY2D1 0 genome.wustl.edu 37 11 18636367 18636367 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 18636367 18636367 G - DEL SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known frame_shift_del c.1454 p.P485fs 0.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 72 0 0 67 10 12.987 DCDC1 0 genome.wustl.edu 37 11 30928236 30928236 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 30928236 30928236 T - DEL DCDC1 ENST00000339794 human ensembl 74_37 -1 known frame_shift_del c.1192 p.T398fs 0.001 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 82 0 0 72 13 15.2941 CCDC73 0 genome.wustl.edu 37 11 32637520 32637520 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 32637520 32637520 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1341 p.E448fs 0.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 64 0 0 53 10 15.873 ANO9 0 genome.wustl.edu 37 11 429820 429821 + Splice_Site INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 429820 429821 - G INS ANO9 ENST00000332826 human ensembl 74_37 -1 known splice_site_ins c.772-3_772-2 e10-2 1.000:0.957 - - - no_errors ANO9 HGNC ENSG00000185101 9 0 0 16 3 15.7895 HNRNPKP3 0 genome.wustl.edu 37 11 43283606 43283608 + RNA DEL AAA AAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 43283606 43283608 AAA - DEL HNRNPKP3 ENST00000511537 human ensembl 74_37 -1 known rna NULL NULL 0.986:0.995:0.998 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 17 0 0 11 8 42.1053 TRIM51HP 0 genome.wustl.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 55065032 55065032 T - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 119 0 0 65 14 17.7215 OR4C16 0 genome.wustl.edu 37 11 55339686 55339686 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 55339686 55339686 T - DEL OR4C16 ENST00000314634 human ensembl 74_37 +1 known frame_shift_del c.83 p.L30fs 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 318 0 0 260 36 12.1622 FEN1 0 genome.wustl.edu 37 11 61563431 61563431 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 61563431 61563431 A - DEL FEN1 ENST00000305885 human ensembl 74_37 +1 known frame_shift_del c.598 p.K201fs 1.000 pfam_XPG-I_dom,smart_XPG-I_dom pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors FEN1 HGNC ENSG00000168496 88 0 0 89 16 15.2381 METTL12 0 genome.wustl.edu 37 11 62434112 62434112 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 62434112 62434112 G - DEL METTL12 ENST00000532971 human ensembl 74_37 +1 known frame_shift_del c.312 p.V106fs 0.174 pfam_Methyltransf_11 pfam_Methyltransf_11 - no_errors METTL12 HGNC ENSG00000214756 138 0 0 138 17 10.9677 SLC3A2 0 genome.wustl.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 62649529 62649529 A - DEL SLC3A2 ENST00000377892 human ensembl 74_37 +1 known frame_shift_del c.985 p.K331fs 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 162 0 0 124 18 12.6761 RTN3 0 genome.wustl.edu 37 11 63525656 63525656 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 63525656 63525656 A - DEL RTN3 ENST00000377819 human ensembl 74_37 +1 known frame_shift_del c.3082 p.K1030fs 1.000 pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 106 0 0 72 20 21.7391 RASGRP2 0 genome.wustl.edu 37 11 64508408 64508408 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 64508408 64508408 C - DEL RASGRP2 ENST00000377486 human ensembl 74_37 -1 putative frame_shift_del c.383 p.G128fs 0.867 NULL pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 62 0 0 65 20 23.5294 TIGD3 0 genome.wustl.edu 37 11 65123714 65123714 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 65123714 65123714 C - DEL TIGD3 ENST00000309880 human ensembl 74_37 +1 known frame_shift_del c.435 p.P147fs 0.000 NULL pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 153 0 0 153 40 20.7254 KCNK7 0 genome.wustl.edu 37 11 65360486 65360486 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 65360486 65360486 G - DEL KCNK7 ENST00000340313 human ensembl 74_37 -1 known frame_shift_del c.914 p.P305fs 0.000 pirsf_2pore_dom_K_chnl_TASK pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK - no_errors KCNK7 HGNC ENSG00000173338 57 0 0 30 8 21.0526 ENSG00000245156 0 genome.wustl.edu 37 11 66039143 66039143 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 66039143 66039143 A - DEL ENSG00000245156 ENST00000501708 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors RP11-867G23.3 Clone_based_vega_gene ENSG00000245156 10 0 0 6 3 33.3333 PITPNM1 0 genome.wustl.edu 37 11 67267649 67267649 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 67267649 67267649 G - DEL PITPNM1 ENST00000356404 human ensembl 74_37 -1 known frame_shift_del c.884 p.P295fs 0.012 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 88 0 0 47 16 25.3968 LRP5 0 genome.wustl.edu 37 11 68133093 68133093 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 68133093 68133093 C - DEL LRP5 ENST00000294304 human ensembl 74_37 +1 known frame_shift_del c.938 p.P314fs 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_EG-like_dom pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 136 0 0 121 12 9.02256 INPPL1 0 genome.wustl.edu 37 11 71948209 71948209 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 71948209 71948209 C - DEL INPPL1 ENST00000298229 human ensembl 74_37 +1 known frame_shift_del c.2921 p.P976fs 0.066 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 157 0 0 154 11 6.66667 ENSG00000254988 0 genome.wustl.edu 37 11 76669998 76669998 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 76669998 76669998 T - DEL ENSG00000254988 ENST00000530190 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CTD-2547H18.1 Clone_based_vega_gene ENSG00000254988 128 0 0 95 16 14.4144 RIC3 0 genome.wustl.edu 37 11 8160039 8160040 + RNA DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 8160039 8160040 AA - DEL RIC3 ENST00000524799 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RIC3 HGNC ENSG00000166405 25 0 0 21 7 25 STK33 0 genome.wustl.edu 37 11 8457623 8457623 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 8457623 8457623 T - DEL STK33 ENST00000315204 human ensembl 74_37 -1 known frame_shift_del c.1011 p.G338fs 0.936 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 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 STK33 HGNC ENSG00000130413 153 0 0 107 12 10.084 C11orf54 0 genome.wustl.edu 37 11 93486914 93486914 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 11 93486914 93486914 A - DEL C11orf54 ENST00000331239 human ensembl 74_37 +1 known frame_shift_del c.221 p.V77fs 0.016 pfam_DUF1907 pfam_DUF1907 - no_errors C11orf54 HGNC ENSG00000182919 102 1 0.970874 48 16 25 FAM71C 0 genome.wustl.edu 37 12 100042354 100042354 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 100042354 100042354 A - DEL FAM71C ENST00000324341 human ensembl 74_37 +1 known frame_shift_del c.402 p.K136fs 0.032 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71C HGNC ENSG00000180219 148 0 0 129 15 10.4167 UTP20 0 genome.wustl.edu 37 12 101680157 101680157 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 101680157 101680157 T - DEL UTP20 ENST00000261637 human ensembl 74_37 +1 known frame_shift_del c.385 p.L131fs 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 554 1 0.18018 508 56 9.92908 PARPBP 0 genome.wustl.edu 37 12 102590055 102590055 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 102590055 102590055 T - DEL PARPBP ENST00000358383 human ensembl 74_37 +1 known frame_shift_del c.1726 p.F577fs 0.996 NULL superfamily_P-loop_NTPase - no_errors PARPBP HGNC ENSG00000185480 139 0 0 97 22 18.4874 HCFC2 0 genome.wustl.edu 37 12 104476625 104476625 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 104476625 104476625 A - DEL HCFC2 ENST00000229330 human ensembl 74_37 +1 known frame_shift_del c.1009 p.A339fs 1.000 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 190 0 0 136 19 12.2581 NAA25 0 genome.wustl.edu 37 12 112513482 112513482 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 112513482 112513482 T - DEL NAA25 ENST00000261745 human ensembl 74_37 -1 known frame_shift_del c.776 p.N259fs 1.000 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 98 0 0 73 15 17.0455 TAOK3 0 genome.wustl.edu 37 12 118693433 118693433 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 118693433 118693433 T - DEL TAOK3 ENST00000542692 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TAOK3 HGNC ENSG00000135090 221 2 0.896861 189 32 14.4796 GCN1L1 0 genome.wustl.edu 37 12 120575372 120575373 + Frame_Shift_Del DEL CC CC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 120575372 120575373 CC - DEL GCN1L1 ENST00000300648 human ensembl 74_37 -1 known frame_shift_del c.6640_6639 p.W2213fs 1.000:1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 153 0 0 139 8 5.44218 ZCCHC8 0 genome.wustl.edu 37 12 122975046 122975046 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 122975046 122975046 T - DEL ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known frame_shift_del c.386 p.N129fs 0.997 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 77 0 0 47 7 12.963 NOC4L 0 genome.wustl.edu 37 12 132632321 132632321 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 132632321 132632321 C - DEL NOC4L ENST00000330579 human ensembl 74_37 +1 known frame_shift_del c.597 p.E201fs 0.001 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 93 0 0 100 6 5.66038 GUCY2C 0 genome.wustl.edu 37 12 14796510 14796510 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 14796510 14796510 T - DEL GUCY2C ENST00000261170 human ensembl 74_37 -1 known frame_shift_del c.1928 p.K643fs 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 270 0 0 219 24 9.87654 ART4 0 genome.wustl.edu 37 12 14993971 14993971 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 14993971 14993971 T - DEL ART4 ENST00000228936 human ensembl 74_37 -1 known frame_shift_del c.261 p.I87fs 0.004 pfam_ART pfam_ART,prints_ART - no_errors ART4 HGNC ENSG00000111339 331 0 0 252 65 20.5047 PLEKHA5 0 genome.wustl.edu 37 12 19514518 19514518 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 19514518 19514518 A - DEL PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known frame_shift_del c.3177 p.T1062fs 0.273 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 45 0 0 34 6 15 PDE3A 0 genome.wustl.edu 37 12 20522723 20522723 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 20522723 20522723 G - DEL PDE3A ENST00000359062 human ensembl 74_37 +1 known frame_shift_del c.505 p.E171fs 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 41 0 0 33 4 10.8108 PDE3A 0 genome.wustl.edu 37 12 20833254 20833255 + RNA DEL CT CT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 20833254 20833255 CT - DEL PDE3A ENST00000544307 human ensembl 74_37 +1 known rna NULL NULL 0.971:0.134 - - - no_errors PDE3A HGNC ENSG00000172572 35 0 0 35 9 20.4545 TM7SF3 0 genome.wustl.edu 37 12 27152717 27152718 + RNA DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 27152717 27152718 AA - DEL TM7SF3 ENST00000539399 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors TM7SF3 HGNC ENSG00000064115 21 0 0 20 10 33.3333 ALG10B 0 genome.wustl.edu 37 12 38714491 38714491 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 38714491 38714491 T - DEL ALG10B ENST00000308742 human ensembl 74_37 +1 known frame_shift_del c.898 p.S302fs 0.086 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10B HGNC ENSG00000175548 433 0 0 330 65 16.4557 DDN 0 genome.wustl.edu 37 12 49391215 49391215 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 49391215 49391215 C - DEL DDN ENST00000421952 human ensembl 74_37 -1 known frame_shift_del c.1444 p.V482fs 0.172 NULL NULL - no_errors DDN HGNC ENSG00000181418 61 0 0 73 9 10.9756 NCKAP5L 0 genome.wustl.edu 37 12 50191010 50191010 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 50191010 50191010 G - DEL NCKAP5L ENST00000335999 human ensembl 74_37 -1 known frame_shift_del c.633 p.W212fs 1.000 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 27 0 0 34 8 19.0476 MAP3K12 0 genome.wustl.edu 37 12 53877706 53877708 + In_Frame_Del DEL CCT CCT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 53877706 53877708 CCT - DEL MAP3K12 ENST00000267079 human ensembl 74_37 -1 known in_frame_del c.1248_1246 p.R416in_frame_del 1.000:1.000:0.990 pirsf_MAP3K12_MAP3K13,superfamily_Kinase-like_dom pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K12 HGNC ENSG00000139625 409 0 0 338 66 16.3366 OR9K2 0 genome.wustl.edu 37 12 55524524 55524524 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 55524524 55524524 A - DEL OR9K2 ENST00000305377 human ensembl 74_37 +1 known frame_shift_del c.972 p.K326fs 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9K2 HGNC ENSG00000170605 190 0 0 139 37 21.0227 PA2G4 0 genome.wustl.edu 37 12 56505301 56505302 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 56505301 56505302 - A INS PA2G4 ENST00000303305 human ensembl 74_37 +1 known frame_shift_ins c.1107_1108 p.K372fs 1.000:1.000 tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC ENSG00000170515 284 1 0.350877 223 48 17.7122 SMARCC2 0 genome.wustl.edu 37 12 56559113 56559113 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 56559113 56559113 G - DEL SMARCC2 ENST00000267064 human ensembl 74_37 -1 known frame_shift_del c.3128 p.P1043fs 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 78 0 0 74 8 9.7561 SMARCC2 0 genome.wustl.edu 37 12 56566437 56566438 + Frame_Shift_Del DEL TC TC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 56566437 56566438 TC - DEL SMARCC2 ENST00000267064 human ensembl 74_37 -1 known frame_shift_del c.1702_1701 p.K568fs 1.000:1.000 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 271 0 0 186 41 18.0617 ATP5B 0 genome.wustl.edu 37 12 57036770 57036770 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 57036770 57036770 A - DEL ATP5B ENST00000550162 human ensembl 74_37 -1 known rna NULL NULL 0.657 - - - no_errors ATP5B HGNC ENSG00000110955 8 0 0 9 4 30.7692 LRP1 0 genome.wustl.edu 37 12 57572241 57572242 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 57572241 57572242 - G INS LRP1 ENST00000243077 human ensembl 74_37 +1 known frame_shift_ins c.4461_4462 p.E1489fs 0.705:1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 141 0 0 140 22 13.5802 GLI1 0 genome.wustl.edu 37 12 57860075 57860075 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 57860075 57860075 G - DEL GLI1 ENST00000228682 human ensembl 74_37 +1 known frame_shift_del c.815 p.G274fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 243 0 0 234 15 6.0241 MBD6 0 genome.wustl.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 57921401 57921401 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2194 p.Q734fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 239 1 0.416667 216 34 13.6 DTX3 0 genome.wustl.edu 37 12 58000970 58000970 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 58000970 58000970 G - DEL DTX3 ENST00000551632 human ensembl 74_37 +1 known frame_shift_del c.333 p.G113fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC ENSG00000178498 67 0 0 56 9 13.8462 CYP27B1 0 genome.wustl.edu 37 12 58157486 58157486 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 58157486 58157486 G - DEL CYP27B1 ENST00000228606 human ensembl 74_37 -1 known frame_shift_del c.1321 p.H441fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27B1 HGNC ENSG00000111012 133 0 0 116 15 11.4504 CHD4 0 genome.wustl.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 6711546 6711546 T - DEL CHD4 ENST00000309577 human ensembl 74_37 -1 known frame_shift_del c.218 p.K73fs 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 541 0 0 428 74 14.741 CNOT2 0 genome.wustl.edu 37 12 70747694 70747707 + Frame_Shift_Del DEL AAAAAAAAAAAAAA AAAAAAAAAAAAAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AAAAAAAAAAAAAA AAAAAAAAAAAAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 70747694 70747707 AAAAAAAAAAAAAA - DEL CNOT2 ENST00000229195 human ensembl 74_37 +1 known frame_shift_del c.1622_1623 p.*541fs 0.996:0.996 NULL pfam_NOT - no_errors CNOT2 HGNC ENSG00000111596 70 0 0 41 8 16.3265 EEA1 0 genome.wustl.edu 37 12 93213103 93213103 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 93213103 93213103 T - DEL EEA1 ENST00000322349 human ensembl 74_37 -1 known frame_shift_del c.1709 p.N570fs 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 186 0 0 116 22 15.942 TMPO 0 genome.wustl.edu 37 12 98921672 98921672 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 12 98921672 98921672 A - DEL TMPO ENST00000266732 human ensembl 74_37 +1 known frame_shift_del c.288 p.T99fs 1.000 NULL pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 184 0 0 177 39 18.0556 PCCA 0 genome.wustl.edu 37 13 100925452 100925452 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 100925452 100925452 T - DEL PCCA ENST00000376285 human ensembl 74_37 +1 known frame_shift_del c.917 p.L308fs 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 81 0 0 72 19 20.8791 COL4A1 0 genome.wustl.edu 37 13 110838865 110838866 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 110838865 110838866 - G INS COL4A1 ENST00000375820 human ensembl 74_37 -1 known frame_shift_ins c.1764_1763 p.G589fs 0.994:1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 97 0 0 100 6 5.66038 GAS6 0 genome.wustl.edu 37 13 114542718 114542718 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 114542718 114542718 C - DEL GAS6 ENST00000357389 human ensembl 74_37 -1 known frame_shift_del c.449 p.G150fs 0.997 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 129 0 0 116 23 16.5468 TPTE2 0 genome.wustl.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 20041394 20041394 A - DEL TPTE2 ENST00000382977 human ensembl 74_37 -1 known frame_shift_del c.483 p.F161fs 0.027 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 142 0 0 104 18 14.7541 MPHOSPH8 0 genome.wustl.edu 37 13 20245322 20245322 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 20245322 20245322 T - DEL MPHOSPH8 ENST00000496525 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MPHOSPH8 HGNC ENSG00000196199 72 0 0 54 14 20.5882 HMGB1 0 genome.wustl.edu 37 13 31037600 31037600 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 31037600 31037600 T - DEL HMGB1 ENST00000468384 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors HMGB1 HGNC ENSG00000189403 144 0 0 105 34 24.4604 BRCA2 0 genome.wustl.edu 37 13 32954022 32954023 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 32954022 32954023 - A INS BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_ins c.9089_9090 p.T3033fs 1.000:0.323 superfamily_NA-bd_OB-fold,pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 77 0 0 70 6 7.89474 N4BP2L2 0 genome.wustl.edu 37 13 33017684 33017685 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 33017684 33017685 - T INS N4BP2L2 ENST00000399396 human ensembl 74_37 -1 known frame_shift_ins c.990_989 p.N330fs 0.030:0.465 NULL superfamily_P-loop_NTPase - no_errors N4BP2L2 HGNC ENSG00000244754 60 0 0 47 8 14.5455 PDS5B 0 genome.wustl.edu 37 13 33344888 33344889 + Frame_Shift_Del DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 33344888 33344889 AA - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.4161_4162 p.N1390fs 0.002:0.002 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 14 0 0 13 4 23.5294 VPS36 0 genome.wustl.edu 37 13 52999942 52999942 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 52999942 52999942 A - DEL VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors VPS36 HGNC ENSG00000136100 28 0 0 19 7 26.9231 SLITRK5 0 genome.wustl.edu 37 13 88330397 88330397 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 88330397 88330397 C - DEL SLITRK5 ENST00000325089 human ensembl 74_37 +1 known frame_shift_del c.2754 p.P920fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 249 0 0 239 26 9.81132 ABCC4 0 genome.wustl.edu 37 13 95735432 95735432 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 13 95735432 95735432 A - DEL ABCC4 ENST00000376887 human ensembl 74_37 -1 known frame_shift_del c.2648 p.L883fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 137 0 0 133 32 19.3939 DYNC1H1 0 genome.wustl.edu 37 14 102445788 102445788 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 102445788 102445788 T - DEL DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known frame_shift_del c.477 p.F161fs 0.979 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 277 0 0 244 17 6.51341 ACIN1 0 genome.wustl.edu 37 14 23532172 23532172 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 23532172 23532172 C - DEL ACIN1 ENST00000262710 human ensembl 74_37 -1 known frame_shift_del c.3023 p.G1008fs 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 200 0 0 153 31 16.8478 G2E3 0 genome.wustl.edu 37 14 31074772 31074772 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 31074772 31074772 A - DEL G2E3 ENST00000206595 human ensembl 74_37 +1 known frame_shift_del c.1072 p.T361fs 0.994 superfamily_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 62 0 0 47 7 12.963 EAPP 0 genome.wustl.edu 37 14 34998659 34998660 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 34998659 34998660 - T INS EAPP ENST00000250454 human ensembl 74_37 -1 known frame_shift_ins c.375_374 p.K126fs 1.000:1.000 NULL pfam_E2F-assoc_phosphoprotein - no_errors EAPP HGNC ENSG00000129518 112 1 0.884956 95 14 12.844 INSM2 0 genome.wustl.edu 37 14 36005057 36005057 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 36005057 36005057 T - DEL INSM2 ENST00000307169 human ensembl 74_37 +1 known frame_shift_del c.1599 p.F535fs 0.624 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 90 0 0 63 17 21.25 SLC25A21 0 genome.wustl.edu 37 14 37180581 37180581 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 37180581 37180581 A - DEL SLC25A21 ENST00000331299 human ensembl 74_37 -1 known frame_shift_del c.545 p.F182fs 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A21 HGNC ENSG00000183032 128 0 0 130 7 5.10949 FANCM 0 genome.wustl.edu 37 14 45645955 45645955 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 45645955 45645955 A - DEL FANCM ENST00000267430 human ensembl 74_37 +1 known frame_shift_del c.3998 p.V1336fs 0.008 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 140 0 0 102 24 19.0476 GNPNAT1 0 genome.wustl.edu 37 14 53250196 53250196 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 53250196 53250196 A - DEL GNPNAT1 ENST00000216410 human ensembl 74_37 -1 known frame_shift_del c.162 p.F54fs 0.996 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors GNPNAT1 HGNC ENSG00000100522 111 0 0 118 29 19.7279 ARID4A 0 genome.wustl.edu 37 14 58830972 58830972 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 58830972 58830972 A - DEL ARID4A ENST00000355431 human ensembl 74_37 +1 known frame_shift_del c.2165 p.N724fs 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 157 1 0.632911 97 27 21.7742 ARID4A 0 genome.wustl.edu 37 14 58831996 58831999 + Frame_Shift_Del DEL AGAG AGAG - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AGAG AGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 58831996 58831999 AGAG - DEL ARID4A ENST00000355431 human ensembl 74_37 +1 known frame_shift_del c.3189_3192 p.E1066fs 0.988:1.000:0.992:0.010 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 152 0 0 120 13 9.77444 SLC38A6 0 genome.wustl.edu 37 14 61518564 61518564 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 61518564 61518564 T - DEL SLC38A6 ENST00000354886 human ensembl 74_37 +1 known frame_shift_del c.1110 p.L372fs 0.480 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A6 HGNC ENSG00000139974 157 0 0 122 35 22.293 SYNE2 0 genome.wustl.edu 37 14 64587756 64587757 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 64587756 64587757 - A INS SYNE2 ENST00000358025 human ensembl 74_37 +1 known frame_shift_ins c.13135_13136 p.D4381fs 0.992:0.989 NULL 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 - no_errors SYNE2 HGNC ENSG00000054654 142 0 0 140 16 10.2564 ZBTB25 0 genome.wustl.edu 37 14 64954534 64954534 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 64954534 64954534 T - DEL ZBTB25 ENST00000394715 human ensembl 74_37 -1 known frame_shift_del c.415 p.T139fs 0.783 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB25 HGNC ENSG00000089775 247 0 0 237 36 13.1868 PPP1R36 0 genome.wustl.edu 37 14 65035126 65035126 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 65035126 65035126 A - DEL PPP1R36 ENST00000298705 human ensembl 74_37 +1 known frame_shift_del c.494 p.N167fs 1.000 NULL NULL - no_errors PPP1R36 HGNC ENSG00000165807 124 1 0.8 98 17 14.7826 ENSG00000259648 0 genome.wustl.edu 37 14 68082934 68082934 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 68082934 68082934 T - DEL ENSG00000259648 ENST00000559968 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 36 0 0 26 8 23.5294 GALNT16 0 genome.wustl.edu 37 14 69800299 69800300 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 69800299 69800300 - G INS GALNT16 ENST00000337827 human ensembl 74_37 +1 known frame_shift_ins c.949_950 p.E320fs 1.000:1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 184 0 0 145 17 10.4938 ADAM21P1 0 genome.wustl.edu 37 14 70712722 70712722 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 70712722 70712722 T - DEL ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.672 - - - no_errors ADAM21P1 HGNC ENSG00000235812 493 0 0 413 22 5.05747 ADAM21 0 genome.wustl.edu 37 14 70925869 70925869 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 70925869 70925869 A - DEL ADAM21 ENST00000267499 human ensembl 74_37 +1 known frame_shift_del c.1653 p.K552fs 0.001 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 317 0 0 270 21 7.21649 DPF3 0 genome.wustl.edu 37 14 73137761 73137762 + RNA INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 73137761 73137762 - A INS DPF3 ENST00000557704 human ensembl 74_37 -1 known rna NULL NULL 0.991:0.001 - - - no_errors DPF3 HGNC ENSG00000205683 9 0 0 12 4 25 ELMSAN1 0 genome.wustl.edu 37 14 74196464 74196464 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 74196464 74196464 G - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known frame_shift_del c.1974 p.I659fs 0.998 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 82 0 0 66 11 14.2857 ELMSAN1 0 genome.wustl.edu 37 14 74205773 74205773 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 74205773 74205773 G - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known frame_shift_del c.939 p.N314fs 0.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 42 0 0 27 6 18.1818 STON2 0 genome.wustl.edu 37 14 81743433 81743433 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 81743433 81743433 T - DEL STON2 ENST00000267540 human ensembl 74_37 -1 known frame_shift_del c.2222 p.N741fs 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 291 1 0.342466 234 39 14.2857 TRIP11 0 genome.wustl.edu 37 14 92480822 92480823 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 92480822 92480823 - T INS TRIP11 ENST00000267622 human ensembl 74_37 -1 known frame_shift_ins c.923_922 p.M308fs 0.378:0.377 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 97 0 0 62 12 16.2162 UNC79 0 genome.wustl.edu 37 14 94088050 94088050 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 14 94088050 94088050 A - DEL UNC79 ENST00000553484 human ensembl 74_37 +1 known frame_shift_del c.4537 p.K1515fs 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 179 0 0 130 30 18.75 PCSK6 0 genome.wustl.edu 37 15 101845535 101845537 + In_Frame_Del DEL CAC CAC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 101845535 101845537 CAC - DEL PCSK6 ENST00000348070 human ensembl 74_37 -1 known in_frame_del c.2835_2833 p.V945in_frame_del 1.000:1.000:1.000 pfam_PLAC,superfamily_Growth_fac_rcpt_N_dom,pfscan_PLAC pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 30 0 0 28 7 20 HERC2 0 genome.wustl.edu 37 15 28499646 28499647 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 28499646 28499647 - T INS HERC2 ENST00000261609 human ensembl 74_37 -1 known frame_shift_ins c.2890_2889 p.E963fs 1.000:1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 88 0 0 71 9 11.25 FMN1 0 genome.wustl.edu 37 15 33192185 33192185 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 33192185 33192185 T - DEL FMN1 ENST00000334528 human ensembl 74_37 -1 known frame_shift_del c.2980 p.S994fs 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 510 0 0 359 70 16.317 KATNBL1 0 genome.wustl.edu 37 15 34455847 34455848 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 34455847 34455848 - T INS KATNBL1 ENST00000256544 human ensembl 74_37 -1 known frame_shift_ins c.31_30 p.R10fs 1.000:1.000 NULL NULL - no_errors KATNBL1 HGNC ENSG00000134152 158 0 0 85 20 19.0476 TMEM62 0 genome.wustl.edu 37 15 43427812 43427812 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 43427812 43427812 A - DEL TMEM62 ENST00000260403 human ensembl 74_37 +1 known frame_shift_del c.395 p.T134fs 1.000 NULL superfamily_Cadherin-like - no_errors TMEM62 HGNC ENSG00000137842 77 0 0 60 8 11.7647 EIF3J 0 genome.wustl.edu 37 15 44843099 44843099 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 44843099 44843099 A - DEL EIF3J ENST00000261868 human ensembl 74_37 +1 known frame_shift_del c.173 p.E61fs 1.000 pfam_eIF3j pfam_eIF3j - no_errors EIF3J HGNC ENSG00000104131 123 0 0 106 14 11.6667 B2M 0 genome.wustl.edu 37 15 45003781 45003782 + Frame_Shift_Del DEL CT CT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 45003781 45003782 CT - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.37_38 p.L15fs 0.000:0.000 NULL pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 104 0 0 66 12 15.3846 B2M 0 genome.wustl.edu 37 15 45007896 45007897 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 45007896 45007897 - G INS B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_ins c.343_344 p.K117fs 0.989:1.000 NULL pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 193 0 0 179 35 16.3551 SPATA5L1 0 genome.wustl.edu 37 15 45710841 45710841 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 45710841 45710841 T - DEL SPATA5L1 ENST00000305560 human ensembl 74_37 +1 known frame_shift_del c.2055 p.S688fs 0.999 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors SPATA5L1 HGNC ENSG00000171763 166 0 0 137 17 11.039 MYEF2 0 genome.wustl.edu 37 15 48449998 48449999 + RNA DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 48449998 48449999 AA - DEL MYEF2 ENST00000557868 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors MYEF2 HGNC ENSG00000104177 8 0 0 8 5 38.4615 FAM214A 0 genome.wustl.edu 37 15 52903363 52903364 + Frame_Shift_Del DEL AC AC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 52903363 52903364 AC - DEL FAM214A ENST00000261844 human ensembl 74_37 -1 known frame_shift_del c.494_493 p.V165fs 1.000:1.000 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 190 0 0 135 18 11.7647 TLN2 0 genome.wustl.edu 37 15 63076122 63076123 + Frame_Shift_Del DEL CA CA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 63076122 63076123 CA - DEL TLN2 ENST00000472902 human ensembl 74_37 +1 putative frame_shift_del c.948_949 p.L320fs 0.004:0.000 NULL pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin - no_errors TLN2 HGNC ENSG00000171914 161 0 0 126 15 10.6383 ZNF609 0 genome.wustl.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 64967247 64967247 A - DEL ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_del c.2194 p.K734fs 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 281 1 0.35461 173 69 28.5124 CYP1A2 0 genome.wustl.edu 37 15 75042781 75042781 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 75042781 75042781 C - DEL CYP1A2 ENST00000343932 human ensembl 74_37 +1 known frame_shift_del c.702 p.L236fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A2 HGNC ENSG00000140505 294 0 0 231 49 17.5 KIAA1024 0 genome.wustl.edu 37 15 79750586 79750586 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 79750586 79750586 A - DEL KIAA1024 ENST00000305428 human ensembl 74_37 +1 known frame_shift_del c.2097 p.S702fs 0.527 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 184 1 0.540541 164 22 11.828 KIAA1199 0 genome.wustl.edu 37 15 81234220 81234221 + Frame_Shift_Ins INS - - GA TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 81234220 81234221 - GA INS KIAA1199 ENST00000220244 human ensembl 74_37 +1 known frame_shift_ins c.3438_3439 p.K1149fs 0.999:1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 102 0 0 91 19 17.2727 MESDC2 0 genome.wustl.edu 37 15 81271633 81271633 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 81271633 81271633 T - DEL MESDC2 ENST00000261758 human ensembl 74_37 -1 known frame_shift_del c.632 p.K211fs 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 117 0 0 109 23 17.4242 TM6SF1 0 genome.wustl.edu 37 15 83805312 83805312 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 83805312 83805312 T - DEL TM6SF1 ENST00000379386 human ensembl 74_37 +1 known frame_shift_del c.1010 p.L339fs 0.172 pfam_Transmembrane_6/97 pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC ENSG00000136404 261 0 0 237 19 7.42188 IQGAP1 0 genome.wustl.edu 37 15 91019925 91019925 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 91019925 91019925 A - DEL IQGAP1 ENST00000268182 human ensembl 74_37 +1 known frame_shift_del c.2815 p.N941fs 1.000 NULL 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 226 0 0 194 40 17.094 SLCO3A1 0 genome.wustl.edu 37 15 92706441 92706441 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 92706441 92706441 A - DEL SLCO3A1 ENST00000555549 human ensembl 74_37 +1 known rna NULL NULL 0.813 - - - no_errors SLCO3A1 HGNC ENSG00000176463 72 0 0 49 24 32.8767 SYNM 0 genome.wustl.edu 37 15 99671083 99671083 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 15 99671083 99671083 G - DEL SYNM ENST00000336292 human ensembl 74_37 +1 known frame_shift_del c.2515 p.H841fs 0.001 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 79 0 0 77 20 20.6186 CIITA 0 genome.wustl.edu 37 16 11000726 11000726 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 11000726 11000726 G - DEL CIITA ENST00000324288 human ensembl 74_37 +1 known frame_shift_del c.1377 p.D461fs 0.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 155 0 0 123 21 14.5833 MYH11 0 genome.wustl.edu 37 16 15802687 15802687 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 15802687 15802687 G - DEL MYH11 ENST00000452625 human ensembl 74_37 -1 known frame_shift_del c.5819 p.P1940fs 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 22 0 0 11 2 15.3846 IQCK 0 genome.wustl.edu 37 16 19867941 19867942 + RNA DEL CT CT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 19867941 19867942 CT - DEL IQCK ENST00000562762 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors IQCK HGNC ENSG00000174628 34 0 0 23 9 28.125 ATP2A1 0 genome.wustl.edu 37 16 28913640 28913640 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 28913640 28913640 C - DEL ATP2A1 ENST00000357084 human ensembl 74_37 +1 known frame_shift_del c.2457 p.R822fs 0.957 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 132 1 0.75188 99 15 13.1579 LAT 0 genome.wustl.edu 37 16 28997465 28997465 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 28997465 28997465 C - DEL LAT ENST00000395461 human ensembl 74_37 +1 known frame_shift_del c.281 p.W96fs 0.000 NULL prints_Linker_for_activat_Tcells_prot - no_errors LAT HGNC ENSG00000213658 170 0 0 157 23 12.7778 SRCAP 0 genome.wustl.edu 37 16 30736371 30736371 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 30736371 30736371 C - DEL SRCAP ENST00000262518 human ensembl 74_37 +1 known frame_shift_del c.5626 p.P1878fs 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 140 0 0 154 13 7.78443 PRSS36 0 genome.wustl.edu 37 16 31151942 31151942 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 31151942 31151942 G - DEL PRSS36 ENST00000268281 human ensembl 74_37 -1 known frame_shift_del c.2038 p.L680fs 0.448 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 26 0 0 32 12 27.2727 ZNF174 0 genome.wustl.edu 37 16 3452111 3452111 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 3452111 3452111 A - DEL ZNF174 ENST00000268655 human ensembl 74_37 +1 known frame_shift_del c.107 p.N38fs 0.000 superfamily_Retrov_capsid_C pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ENSG00000103343 307 0 0 257 38 12.8814 C16orf89 0 genome.wustl.edu 37 16 5094401 5094401 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 5094401 5094401 G - DEL C16orf89 ENST00000422873 human ensembl 74_37 -1 known frame_shift_del c.1148 p.P383fs 0.000 NULL NULL - no_errors C16orf89 HGNC ENSG00000153446 62 0 0 67 7 9.45946 CHD9 0 genome.wustl.edu 37 16 53348351 53348351 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 53348351 53348351 A - DEL CHD9 ENST00000398510 human ensembl 74_37 +1 known frame_shift_del c.7285 p.R2431fs 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_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 CHD9 HGNC ENSG00000177200 20 0 0 18 4 18.1818 NLRC5 0 genome.wustl.edu 37 16 57059906 57059909 + Frame_Shift_Del DEL CTGC CTGC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CTGC CTGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 57059906 57059909 CTGC - DEL NLRC5 ENST00000262510 human ensembl 74_37 +1 known frame_shift_del c.1051_1054 p.C354fs 0.981:1.000:1.000:1.000 superfamily_P-loop_NTPase pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 74 0 0 86 8 8.51064 NLRC5 0 genome.wustl.edu 37 16 57060239 57060240 + Frame_Shift_Del DEL GA GA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 57060239 57060240 GA - DEL NLRC5 ENST00000262510 human ensembl 74_37 +1 known frame_shift_del c.1384_1385 p.E462fs 0.613:0.666 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 81 0 0 65 19 22.619 TRADD 0 genome.wustl.edu 37 16 67190446 67190448 + In_Frame_Del DEL CCA CCA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 67190446 67190448 CCA - DEL TRADD ENST00000345057 human ensembl 74_37 -1 known in_frame_del c.118_116 p.V39in_frame_del 0.993:1.000:1.000 superfamily_TRADD_N pfam_TRADD_N,pfam_Death_domain,superfamily_TRADD_N,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain - no_errors TRADD HGNC ENSG00000102871 101 0 0 110 25 18.5185 FHOD1 0 genome.wustl.edu 37 16 67267852 67267852 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 67267852 67267852 G - DEL FHOD1 ENST00000258201 human ensembl 74_37 -1 known frame_shift_del c.1754 p.P585fs 1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 12 0 0 22 7 24.1379 SLC9A5 0 genome.wustl.edu 37 16 67304676 67304676 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 67304676 67304676 C - DEL SLC9A5 ENST00000299798 human ensembl 74_37 +1 known frame_shift_del c.2254 p.S754fs 1.000 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 55 0 0 35 9 20.4545 PSMD7 0 genome.wustl.edu 37 16 74335455 74335456 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 74335455 74335456 - G INS PSMD7 ENST00000219313 human ensembl 74_37 +1 known frame_shift_ins c.262_263 p.E89fs 1.000:1.000 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors PSMD7 HGNC ENSG00000103035 171 0 0 147 41 21.8085 ADAMTS18 0 genome.wustl.edu 37 16 77356311 77356311 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 77356311 77356311 A - DEL ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known frame_shift_del c.2085 p.F695fs 0.998 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 224 0 0 196 38 16.2393 ADAD2 0 genome.wustl.edu 37 16 84227613 84227613 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 84227613 84227613 A - DEL ADAD2 ENST00000268624 human ensembl 74_37 +1 known frame_shift_del c.420 p.V142fs 0.000 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 123 0 0 86 11 11.3402 ENSG00000261286 0 genome.wustl.edu 37 16 84495782 84495782 + RNA DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 16 84495782 84495782 G - DEL ENSG00000261286 ENST00000565700 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-517C16.2 Clone_based_vega_gene ENSG00000261286 60 0 0 48 8 14.2857 EPN2 0 genome.wustl.edu 37 17 19232949 19232950 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 19232949 19232950 - A INS EPN2 ENST00000314728 human ensembl 74_37 +1 known frame_shift_ins c.1400_1401 p.T470fs 1.000:1.000 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 167 1 0.595238 155 35 18.4211 DPH1 0 genome.wustl.edu 37 17 1936832 1936833 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 1936832 1936833 - C INS DPH1 ENST00000263083 human ensembl 74_37 +1 known frame_shift_ins c.110_111 p.E40fs 1.000:0.975 pirsf_DPH1_eu/DPH2_arc pfam_DPH1/DPH2,pirsf_DPH1_eu/DPH2_arc,tigrfam_DPH1/DPH2 - no_errors DPH1 HGNC ENSG00000108963 139 0 0 137 20 12.7389 ULK2 0 genome.wustl.edu 37 17 19729489 19729489 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 19729489 19729489 A - DEL ULK2 ENST00000361658 human ensembl 74_37 -1 known frame_shift_del c.798 p.F266fs 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,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,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 199 0 0 160 12 6.97674 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 20108263 20108263 A - DEL SPECC1 ENST00000261503 human ensembl 74_37 +1 known frame_shift_del c.901 p.N303fs 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 211 1 0.471698 160 61 27.6018 CLUH 0 genome.wustl.edu 37 17 2594064 2594065 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 2594064 2594065 - T INS CLUH ENST00000435359 human ensembl 74_37 -1 known frame_shift_ins c.3754_3753 p.D1251fs 1.000:1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 66 0 0 41 10 19.6078 NF1 0 genome.wustl.edu 37 17 29654775 29654780 + In_Frame_Del DEL ACCAAG ACCAAG - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 ACCAAG ACCAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 29654775 29654780 ACCAAG - DEL NF1 ENST00000358273 human ensembl 74_37 +1 known in_frame_del c.5527_5532 p.TK1843in_frame_del 1.000:1.000:0.999:1.000:1.000:1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 136 0 0 104 9 7.9646 DDX52 0 genome.wustl.edu 37 17 36002157 36002157 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 36002157 36002157 T - DEL DDX52 ENST00000349699 human ensembl 74_37 -1 known frame_shift_del c.268 p.R90fs 0.997 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX52 HGNC ENSG00000141141 387 1 0.257732 280 47 14.3731 CDK12 0 genome.wustl.edu 37 17 37687471 37687472 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 37687471 37687472 - G INS CDK12 ENST00000447079 human ensembl 74_37 +1 known frame_shift_ins c.4375_4376 p.P1463fs 1.000:1.000 NULL 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 CDK12 HGNC ENSG00000167258 104 0 0 114 14 10.9375 P2RX1 0 genome.wustl.edu 37 17 3819462 3819462 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 3819462 3819462 G - DEL P2RX1 ENST00000225538 human ensembl 74_37 -1 known frame_shift_del c.58 p.R20fs 0.997 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX1 HGNC ENSG00000108405 200 0 0 147 31 17.4157 NR1D1 0 genome.wustl.edu 37 17 38252178 38252178 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 38252178 38252178 G - DEL NR1D1 ENST00000246672 human ensembl 74_37 -1 known frame_shift_del c.767 p.P256fs 0.994 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 20 0 0 20 5 20 TOP2A 0 genome.wustl.edu 37 17 38552642 38552642 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 38552642 38552642 T - DEL TOP2A ENST00000423485 human ensembl 74_37 -1 known frame_shift_del c.3613 p.T1205fs 0.002 NULL pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 229 0 0 134 33 19.7605 KRT32 0 genome.wustl.edu 37 17 39623520 39623520 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 39623520 39623520 G - DEL KRT32 ENST00000225899 human ensembl 74_37 -1 known frame_shift_del c.58 p.R20fs 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 76 0 0 51 6 10.5263 STAT5B 0 genome.wustl.edu 37 17 40375459 40375459 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 40375459 40375459 T - DEL STAT5B ENST00000293328 human ensembl 74_37 -1 known frame_shift_del c.491 p.K164fs 1.000 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 80 0 0 56 15 21.1268 CCDC43 0 genome.wustl.edu 37 17 42756253 42756253 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 42756253 42756253 T - DEL CCDC43 ENST00000315286 human ensembl 74_37 -1 known frame_shift_del c.646 p.R216fs 1.000 NULL NULL - no_errors CCDC43 HGNC ENSG00000180329 65 0 0 64 35 35.3535 HOXB3 0 genome.wustl.edu 37 17 46628219 46628219 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 46628219 46628219 C - DEL HOXB3 ENST00000311626 human ensembl 74_37 -1 known frame_shift_del c.773 p.G258fs 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 92 0 0 104 6 5.45455 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 87 0 0 91 11 10.7843 BZRAP1 0 genome.wustl.edu 37 17 56381747 56381749 + In_Frame_Del DEL CTC CTC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 56381747 56381749 CTC - DEL BZRAP1 ENST00000343736 human ensembl 74_37 -1 known in_frame_del c.5558_5556 p.R1854in_frame_del 1.000:1.000:1.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 204 0 0 175 11 5.91398 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 173 0 0 107 27 20.1493 PRR11 0 genome.wustl.edu 37 17 57247171 57247171 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 57247171 57247171 A - DEL PRR11 ENST00000262293 human ensembl 74_37 +1 known frame_shift_del c.58 p.E23fs 0.749 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 169 0 0 109 6 5.21739 CEP112 0 genome.wustl.edu 37 17 64059082 64059082 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 64059082 64059082 T - DEL CEP112 ENST00000392769 human ensembl 74_37 -1 known frame_shift_del c.1073 p.K358fs 1.000 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 138 0 0 113 7 5.83333 MIR497HG 0 genome.wustl.edu 37 17 6920177 6920177 + RNA DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 6920177 6920177 G - DEL MIR497HG ENST00000572453 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors MIR497HG HGNC ENSG00000267532 121 0 0 121 22 15.3846 GPS2 0 genome.wustl.edu 37 17 7216419 7216419 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 7216419 7216419 G - DEL GPS2 ENST00000380728 human ensembl 74_37 -1 known frame_shift_del c.829 p.Q277fs 1.000 NULL NULL - no_errors GPS2 HGNC ENSG00000132522 186 0 0 184 36 16.3636 SAP30BP 0 genome.wustl.edu 37 17 73702109 73702109 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 73702109 73702109 A - DEL SAP30BP ENST00000584667 human ensembl 74_37 +1 known frame_shift_del c.682 p.G230fs 1.000 NULL pfam_SAP30BP - no_errors SAP30BP HGNC ENSG00000161526 45 0 0 34 6 15 CHD3 0 genome.wustl.edu 37 17 7798765 7798765 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 7798765 7798765 C - DEL CHD3 ENST00000330494 human ensembl 74_37 +1 known frame_shift_del c.1612 p.R540fs 0.007 superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 214 0 0 179 28 13.5266 MYH10 0 genome.wustl.edu 37 17 8396271 8396273 + In_Frame_Del DEL CTT CTT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 17 8396271 8396273 CTT - DEL MYH10 ENST00000396239 human ensembl 74_37 -1 known in_frame_del c.4251_4249 p.K1417in_frame_del 1.000:1.000:1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 228 0 0 170 28 14.1414 ESCO1 0 genome.wustl.edu 37 18 19120600 19120600 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 19120600 19120600 A - DEL ESCO1 ENST00000383276 human ensembl 74_37 -1 known frame_shift_del c.2015 p.L672fs 1.000 NULL NULL - no_errors ESCO1 HGNC ENSG00000141446 46 0 0 25 5 16.6667 OSBPL1A 0 genome.wustl.edu 37 18 21750331 21750331 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 21750331 21750331 T - DEL OSBPL1A ENST00000319481 human ensembl 74_37 -1 known frame_shift_del c.2378 p.N793fs 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 302 0 0 245 54 18.0602 THOC1 0 genome.wustl.edu 37 18 224097 224097 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 224097 224097 T - DEL THOC1 ENST00000261600 human ensembl 74_37 -1 known frame_shift_del c.1291 p.I431fs 1.000 pfam_THO_THOC1 pfam_THO_THOC1,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain - no_errors THOC1 HGNC ENSG00000079134 50 0 0 32 8 20 ENSG00000252258 0 genome.wustl.edu 37 18 3025533 3025533 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 3025533 3025533 A - DEL ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 31 0 0 25 4 13.7931 ASXL3 0 genome.wustl.edu 37 18 31323658 31323658 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 31323658 31323658 A - DEL ASXL3 ENST00000269197 human ensembl 74_37 +1 known frame_shift_del c.3846 p.T1284fs 0.998 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 161 0 0 135 24 15.0943 ZBTB7C 0 genome.wustl.edu 37 18 45567076 45567076 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 45567076 45567076 C - DEL ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_del c.403 p.E135fs 0.994 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 59 0 0 47 10 17.5439 TCF4 0 genome.wustl.edu 37 18 53252552 53252552 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 53252552 53252552 T - DEL TCF4 ENST00000398339 human ensembl 74_37 -1 known frame_shift_del c.410 p.N137fs 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF4 HGNC ENSG00000196628 262 0 0 184 31 14.4186 WDR7 0 genome.wustl.edu 37 18 54358513 54358513 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 54358513 54358513 G - DEL WDR7 ENST00000254442 human ensembl 74_37 +1 known frame_shift_del c.784 p.D264fs 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 239 0 0 203 38 15.7676 LMAN1 0 genome.wustl.edu 37 18 57013285 57013285 + Splice_Site DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 57013285 57013285 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known splice_site_del c.823-2 e8-2 1.000 - - - no_errors LMAN1 HGNC ENSG00000074695 227 0 0 188 27 12.5581 PHLPP1 0 genome.wustl.edu 37 18 60506242 60506242 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 60506242 60506242 T - DEL PHLPP1 ENST00000588953 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PHLPP1 HGNC ENSG00000081913 50 0 0 48 10 17.2414 CCDC102B 0 genome.wustl.edu 37 18 66504311 66504311 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 66504311 66504311 A - DEL CCDC102B ENST00000319445 human ensembl 74_37 +1 known frame_shift_del c.311 p.K105fs 1.000 NULL NULL - no_errors CCDC102B HGNC ENSG00000150636 139 0 0 150 16 9.63855 LAMA1 0 genome.wustl.edu 37 18 7038885 7038885 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 18 7038885 7038885 T - DEL LAMA1 ENST00000389658 human ensembl 74_37 -1 known frame_shift_del c.1487 p.N496fs 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 249 0 0 227 31 12.0155 ZGLP1 0 genome.wustl.edu 37 19 10419286 10419286 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 10419286 10419286 G - DEL ZGLP1 ENST00000403903 human ensembl 74_37 -1 known frame_shift_del c.72 p.W25fs 0.001 NULL pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA - no_errors ZGLP1 HGNC ENSG00000220201 25 0 0 25 5 16.6667 ELAVL3 0 genome.wustl.edu 37 19 11577605 11577605 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 11577605 11577605 C - DEL ELAVL3 ENST00000359227 human ensembl 74_37 -1 known frame_shift_del c.47 p.G16fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 27 0 0 33 5 13.1579 ZNF878 0 genome.wustl.edu 37 19 12155486 12155486 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 12155486 12155486 T - DEL ZNF878 ENST00000602107 human ensembl 74_37 -1 known frame_shift_del c.871 p.R291fs 0.001 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 ZNF878 HGNC ENSG00000257446 205 0 0 160 45 21.9512 ZNF44 0 genome.wustl.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 12384448 12384448 A - DEL ZNF44 ENST00000393337 human ensembl 74_37 -1 known frame_shift_del c.766 p.W256fs 0.001 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 ZNF44 HGNC ENSG00000197857 249 0 0 215 56 20.6642 OR10H2 0 genome.wustl.edu 37 19 15839381 15839381 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 15839381 15839381 T - DEL OR10H2 ENST00000305899 human ensembl 74_37 +1 known frame_shift_del c.528 p.L178fs 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H2 HGNC ENSG00000171942 127 0 0 140 31 18.1287 SIN3B 0 genome.wustl.edu 37 19 16962291 16962291 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 16962291 16962291 C - DEL SIN3B ENST00000379803 human ensembl 74_37 +1 known frame_shift_del c.795 p.H265fs 0.998 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 115 0 0 96 23 19.3277 NDUFA13 0 genome.wustl.edu 37 19 19638818 19638818 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 19638818 19638818 G - DEL NDUFA13 ENST00000252576 human ensembl 74_37 +1 known frame_shift_del c.567 p.E191fs 0.959 pfam_GRIM-19 pfam_GRIM-19 - no_errors NDUFA13 HGNC ENSG00000186010 50 0 0 31 3 8.82353 ZNF506 0 genome.wustl.edu 37 19 19905597 19905598 + Frame_Shift_Del DEL TC TC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 19905597 19905598 TC - DEL ZNF506 ENST00000443905 human ensembl 74_37 -1 known frame_shift_del c.1099_1098 p.K367fs 1.000:1.000 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 ZNF506 HGNC ENSG00000081665 216 0 0 163 36 18.0905 ZNF486 0 genome.wustl.edu 37 19 20308052 20308052 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 20308052 20308052 A - DEL ZNF486 ENST00000335117 human ensembl 74_37 +1 known frame_shift_del c.533 p.K180fs 0.996 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 ZNF486 HGNC ENSG00000256229 117 0 0 103 18 14.876 ZNF66 0 genome.wustl.edu 37 19 20988745 20988745 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 20988745 20988745 A - DEL ZNF66 ENST00000344519 human ensembl 74_37 +1 known frame_shift_del c.339 p.G116fs 0.000 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 ZNF66 HGNC ENSG00000160229 60 0 0 60 7 10.4478 ZNF43 0 genome.wustl.edu 37 19 21992087 21992087 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 21992087 21992087 T - DEL ZNF43 ENST00000354959 human ensembl 74_37 -1 known frame_shift_del c.752 p.N251fs 0.932 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 ZNF43 HGNC ENSG00000198521 176 0 0 137 26 15.9509 ZNF507 0 genome.wustl.edu 37 19 32845518 32845521 + Frame_Shift_Del DEL GAGA GAGA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 GAGA GAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 32845518 32845521 GAGA - DEL ZNF507 ENST00000311921 human ensembl 74_37 +1 known frame_shift_del c.1782_1785 p.R595fs 1.000:1.000:1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 78 0 0 57 15 20.8333 ZNF540 0 genome.wustl.edu 37 19 38103018 38103018 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 38103018 38103018 T - DEL ZNF540 ENST00000316433 human ensembl 74_37 +1 known frame_shift_del c.837 p.F281fs 0.001 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 ZNF540 HGNC ENSG00000171817 122 0 0 91 13 12.5 SAMD4B 0 genome.wustl.edu 37 19 39868176 39868178 + In_Frame_Del DEL ATC ATC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 39868176 39868178 ATC - DEL SAMD4B ENST00000314471 human ensembl 74_37 +1 known in_frame_del c.1156_1158 p.I388in_frame_del 1.000:1.000:1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 104 0 0 88 14 13.7255 CIC 0 genome.wustl.edu 37 19 42795609 42795609 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 42795609 42795609 C - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.2689 p.A900fs 0.999 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 117 0 0 92 26 22.0339 APOC1 0 genome.wustl.edu 37 19 45419666 45419666 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 45419666 45419666 A - DEL APOC1 ENST00000592885 human ensembl 74_37 +1 novel frame_shift_del c.278 p.T96fs 0.005 NULL pfam_ApoC-I - no_errors APOC1 HGNC ENSG00000130208 30 0 0 31 8 20.5128 PNMAL2 0 genome.wustl.edu 37 19 46997818 46997818 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 46997818 46997818 G - DEL PNMAL2 ENST00000599531 human ensembl 74_37 -1 known frame_shift_del c.905 p.P302fs 0.000 NULL NULL - no_errors PNMAL2 HGNC ENSG00000204851 114 0 0 115 16 12.2137 ZC3H4 0 genome.wustl.edu 37 19 47570094 47570095 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 47570094 47570095 - T INS ZC3H4 ENST00000253048 human ensembl 74_37 -1 known frame_shift_ins c.3431_3430 p.S1144fs 1.000:1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 13 0 0 13 3 18.75 DHX34 0 genome.wustl.edu 37 19 47884148 47884149 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 47884148 47884149 - C INS DHX34 ENST00000328771 human ensembl 74_37 +1 known frame_shift_ins c.3058_3059 p.H1022fs 0.075:0.265 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 79 0 0 63 11 14.8649 SLC8A2 0 genome.wustl.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 47935681 47935683 TCC - DEL SLC8A2 ENST00000236877 human ensembl 74_37 -1 known in_frame_del c.2132_2130 p.E710in_frame_del 1.000:1.000:1.000 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 122 0 0 133 20 13.0719 IL4I1 0 genome.wustl.edu 37 19 50392998 50393001 + Frame_Shift_Del DEL CTTC CTTC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CTTC CTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 50392998 50393001 CTTC - DEL IL4I1 ENST00000341114 human ensembl 74_37 -1 known frame_shift_del c.1699_1696 p.E566fs 0.000:0.000:0.000:0.001 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 104 0 0 83 9 9.78261 NAPSB 0 genome.wustl.edu 37 19 50837601 50837602 + RNA INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 50837601 50837602 - C INS NAPSB ENST00000527780 human ensembl 74_37 -1 known rna NULL NULL 0.861:0.853 - - - no_errors NAPSB HGNC ENSG00000131401 25 0 0 23 6 20.6897 LILRB1 0 genome.wustl.edu 37 19 55148333 55148334 + RNA INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 55148333 55148334 - G INS LILRB1 ENST00000462628 human ensembl 74_37 +1 known rna NULL NULL 0.218:0.187 - - - no_errors LILRB1 HGNC ENSG00000104972 85 0 0 57 7 10.9375 KIR2DL4 0 genome.wustl.edu 37 19 55324675 55324675 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 55324675 55324675 A - DEL KIR2DL4 ENST00000396284 human ensembl 74_37 +1 known frame_shift_del c.796 p.V269fs 0.003 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL4 HGNC ENSG00000189013 52 0 0 43 23 34.8485 SAFB2 0 genome.wustl.edu 37 19 5621342 5621344 + In_Frame_Del DEL CTT CTT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 5621342 5621344 CTT - DEL SAFB2 ENST00000252542 human ensembl 74_37 -1 known in_frame_del c.252_250 p.K84in_frame_del 0.271:0.333:0.990 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 629 0 0 584 98 14.3695 NLRP9 0 genome.wustl.edu 37 19 56249721 56249722 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 56249721 56249722 - A INS NLRP9 ENST00000332836 human ensembl 74_37 -1 known frame_shift_ins c.20_19 p.S7fs 0.014:0.009 superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 232 0 0 209 14 6.27803 ZNF776 0 genome.wustl.edu 37 19 58264856 58264857 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 58264856 58264857 - A INS ZNF776 ENST00000317178 human ensembl 74_37 +1 known frame_shift_ins c.358_359 p.L123fs 0.057:0.001 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 ZNF776 HGNC ENSG00000152443 141 0 0 96 27 21.9512 GPR108 0 genome.wustl.edu 37 19 6736719 6736719 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 6736719 6736719 C - DEL GPR108 ENST00000264080 human ensembl 74_37 -1 known frame_shift_del c.124 p.E42fs 1.000 NULL pfam_TM_rcpt_euk - no_errors GPR108 HGNC ENSG00000125734 84 0 0 66 19 22.3529 HNRNPM 0 genome.wustl.edu 37 19 8520329 8520329 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 19 8520329 8520329 A - DEL HNRNPM ENST00000325495 human ensembl 74_37 +1 known frame_shift_del c.154 p.N53fs 1.000 pfam_HnRNP_M_PY-NLS pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 141 0 0 94 22 18.9655 MAP4K4 0 genome.wustl.edu 37 2 102452432 102452433 + Frame_Shift_Del DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 102452432 102452433 AA - DEL MAP4K4 ENST00000324219 human ensembl 74_37 +1 known frame_shift_del c.765_766 p.K257fs 0.996:1.000 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 pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K4 HGNC ENSG00000071054 42 0 0 36 8 18.1818 SLC9A4 0 genome.wustl.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 103149137 103149137 A - DEL SLC9A4 ENST00000295269 human ensembl 74_37 +1 known frame_shift_del c.2387 p.K798fs 0.597 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 84 0 0 51 9 15 ENSG00000214184 0 genome.wustl.edu 37 2 109123989 109123989 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 109123989 109123989 T - DEL ENSG00000214184 ENST00000322353 human ensembl 74_37 -1 known rna NULL NULL 0.892 - - - no_errors AC012487.2 Clone_based_vega_gene ENSG00000214184 60 0 0 45 18 28.5714 ANAPC1 0 genome.wustl.edu 37 2 112614257 112614258 + Splice_Site INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 112614257 112614258 - T INS ANAPC1 ENST00000341068 human ensembl 74_37 -1 known splice_site_ins c.1450-2_1450-1 e12-1 0.994:0.992 - - - no_errors ANAPC1 HGNC ENSG00000153107 107 0 0 119 7 5.55556 RGPD8 0 genome.wustl.edu 37 2 113181886 113181887 + Splice_Site INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 113181886 113181887 - A INS RGPD8 ENST00000302558 human ensembl 74_37 -1 known splice_site_ins c.73-3_73-2 e2-2 1.000:0.969 - - - no_errors RGPD8 HGNC ENSG00000169629 172 0 0 104 7 6.30631 DDX18 0 genome.wustl.edu 37 2 118583908 118583909 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 118583908 118583909 - T INS DDX18 ENST00000263239 human ensembl 74_37 +1 known frame_shift_ins c.1585_1586 p.L530fs 1.000:1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 63 0 0 35 11 23.913 TUBA3E 0 genome.wustl.edu 37 2 130949677 130949677 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 130949677 130949677 G - DEL TUBA3E ENST00000312988 human ensembl 74_37 -1 known frame_shift_del c.1080 p.T361fs 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 137 0 0 152 9 5.59006 LOC100129961 0 genome.wustl.edu 37 2 135625119 135625120 + RNA DEL CT CT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 135625119 135625120 CT - DEL LOC100129961 ENST00000392929 human ensembl 74_37 -1 known rna NULL NULL 0.755:0.455 - - - no_errors AC016725.4 Clone_based_vega_gene ENSG00000224043 105 0 0 105 29 21.6418 ZRANB3 0 genome.wustl.edu 37 2 135988440 135988440 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 135988440 135988440 T - DEL ZRANB3 ENST00000264159 human ensembl 74_37 -1 known frame_shift_del c.1597 p.R533fs 0.015 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 190 0 0 140 31 18.1287 LRP1B 0 genome.wustl.edu 37 2 141081589 141081590 + Frame_Shift_Del DEL AT AT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 141081589 141081590 AT - DEL LRP1B ENST00000389484 human ensembl 74_37 -1 known frame_shift_del c.12387_12386 p.Y4129fs 1.000:1.000 superfamily_Growth_fac_rcpt_N_dom 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 215 0 0 158 34 17.7083 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 274 0 0 159 88 35.6275 DAPL1 0 genome.wustl.edu 37 2 159660819 159660820 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 159660819 159660820 - A INS DAPL1 ENST00000309950 human ensembl 74_37 +1 known frame_shift_ins c.84_85 p.Q30fs 1.000:1.000 NULL NULL - no_errors DAPL1 HGNC ENSG00000163331 46 0 0 24 3 11.1111 DAPL1 0 genome.wustl.edu 37 2 159660856 159660856 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 159660856 159660856 A - DEL DAPL1 ENST00000309950 human ensembl 74_37 +1 known frame_shift_del c.121 p.T43fs 0.967 NULL NULL - no_errors DAPL1 HGNC ENSG00000163331 42 0 0 26 7 21.2121 MARCH7 0 genome.wustl.edu 37 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 160604680 160604680 T - DEL MARCH7 ENST00000259050 human ensembl 74_37 +1 known frame_shift_del c.879 p.S296fs 0.910 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 162 1 0.613497 128 21 14.094 LY75 0 genome.wustl.edu 37 2 160673462 160673462 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 160673462 160673462 T - DEL LY75 ENST00000554112 human ensembl 74_37 -1 known frame_shift_del c.4235 p.K1412fs 0.727 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 152 1 0.653595 119 16 11.8519 LY75 0 genome.wustl.edu 37 2 160676356 160676356 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 160676356 160676356 T - DEL LY75 ENST00000554112 human ensembl 74_37 -1 known frame_shift_del c.4034 p.N1345fs 0.139 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 218 0 0 164 28 14.5833 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 165551296 165551296 A - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.2921 p.L974fs 0.972 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 70 0 0 62 20 24.3902 SCN9A 0 genome.wustl.edu 37 2 167144965 167144965 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 167144965 167144965 T - DEL SCN9A ENST00000303354 human ensembl 74_37 -1 known frame_shift_del c.1299 p.E434fs 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 135 0 0 131 21 13.8158 XIRP2 0 genome.wustl.edu 37 2 168115079 168115080 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 168115079 168115080 - A INS XIRP2 ENST00000420519 human ensembl 74_37 +1 known frame_shift_ins c.2122_2123 p.T710fs 0.998:0.561 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 70 0 0 54 12 18.1818 FKBP7 0 genome.wustl.edu 37 2 179330469 179330471 + RNA DEL AAA AAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 179330469 179330471 AAA - DEL FKBP7 ENST00000464248 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors FKBP7 HGNC ENSG00000079150 80 0 0 62 11 15.0685 ENSG00000271011 0 genome.wustl.edu 37 2 179442293 179442293 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 179442293 179442293 A - DEL ENSG00000271011 ENST00000604215 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors RP11-171I2.5 Clone_based_vega_gene ENSG00000271011 94 0 0 55 14 20.2899 CCDC141 0 genome.wustl.edu 37 2 179710387 179710387 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 179710387 179710387 T - DEL CCDC141 ENST00000420890 human ensembl 74_37 -1 known frame_shift_del c.3440 p.N1147fs 0.017 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 100 0 0 70 20 22.2222 SESTD1 0 genome.wustl.edu 37 2 179986627 179986628 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 179986627 179986628 - T INS SESTD1 ENST00000428443 human ensembl 74_37 -1 known frame_shift_ins c.1312_1311 p.G437fs 1.000:1.000 NULL superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 154 0 0 125 33 20.8861 FSIP2 0 genome.wustl.edu 37 2 186673611 186673611 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 186673611 186673611 A - DEL FSIP2 ENST00000343098 human ensembl 74_37 +1 known frame_shift_del c.19845 p.K6617fs 0.003 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 173 0 0 125 20 13.7931 OSGEPL1 0 genome.wustl.edu 37 2 190620089 190620089 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 190620089 190620089 T - DEL OSGEPL1 ENST00000264151 human ensembl 74_37 -1 known frame_shift_del c.419 p.K140fs 0.997 pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD - no_errors OSGEPL1 HGNC ENSG00000128694 83 0 0 72 21 22.5806 DNAH7 0 genome.wustl.edu 37 2 196866535 196866535 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 196866535 196866535 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.1037 p.K346fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 128 0 0 116 21 15.3285 GTF3C3 0 genome.wustl.edu 37 2 197649614 197649614 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 197649614 197649614 T - DEL GTF3C3 ENST00000263956 human ensembl 74_37 -1 known frame_shift_del c.1081 p.T361fs 0.044 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 146 0 0 103 24 18.8976 SGOL2 0 genome.wustl.edu 37 2 201438019 201438019 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 201438019 201438019 A - DEL SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_del c.2950 p.K985fs 0.133 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 161 0 0 105 22 17.3228 AOX1 0 genome.wustl.edu 37 2 201477410 201477410 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 201477410 201477410 T - DEL AOX1 ENST00000374700 human ensembl 74_37 +1 known frame_shift_del c.1342 p.F449fs 0.897 pfam_CO_DH_flav_C,superfamily_CO_DH_flav_C,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 164 0 0 138 21 13.2075 BZW1 0 genome.wustl.edu 37 2 201683505 201683505 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 201683505 201683505 A - DEL BZW1 ENST00000409600 human ensembl 74_37 +1 known frame_shift_del c.847 p.N285fs 1.000 superfamily_ARM-type_fold pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 89 0 0 74 7 8.64198 ALS2CR11 0 genome.wustl.edu 37 2 202352367 202352367 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 202352367 202352367 T - DEL ALS2CR11 ENST00000286195 human ensembl 74_37 -1 known frame_shift_del c.1840 p.M614fs 0.097 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 281 0 0 227 52 18.638 GCSHP3 0 genome.wustl.edu 37 2 206980715 206980715 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 206980715 206980715 T - DEL GCSHP3 ENST00000453039 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors AC007383.4 Clone_based_vega_gene ENSG00000231955 26 0 0 22 7 24.1379 ZDBF2 0 genome.wustl.edu 37 2 207174869 207174869 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 207174869 207174869 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5617 p.K1875fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 70 0 0 56 8 12.5 PECR 0 genome.wustl.edu 37 2 216930130 216930132 + In_Frame_Del DEL CCT CCT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 216930130 216930132 CCT - DEL PECR ENST00000265322 human ensembl 74_37 -1 known in_frame_del c.329_327 p.G110in_frame_del 1.000:1.000:0.980 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH - no_errors PECR HGNC ENSG00000115425 196 0 0 143 31 17.8161 XRCC5 0 genome.wustl.edu 37 2 216992312 216992312 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 216992312 216992312 A - DEL XRCC5 ENST00000392132 human ensembl 74_37 +1 known frame_shift_del c.852 p.E287fs 0.161 pfam_Ku70/Ku80_beta-barrel_dom,superfamily_SPOC_like_C_dom pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom - no_errors XRCC5 HGNC ENSG00000079246 172 0 0 134 28 17.284 ZNF142 0 genome.wustl.edu 37 2 219508084 219508084 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 219508084 219508084 C - DEL ZNF142 ENST00000411696 human ensembl 74_37 -1 known frame_shift_del c.3155 p.G1052fs 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 73 0 0 87 6 6.45161 IRS1 0 genome.wustl.edu 37 2 227661664 227661664 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 227661664 227661664 C - DEL IRS1 ENST00000305123 human ensembl 74_37 -1 known frame_shift_del c.1791 p.H598fs 0.995 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 54 0 0 55 7 11.2903 UGT1A3 0 genome.wustl.edu 37 2 234638283 234638283 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 234638283 234638283 T - DEL UGT1A3 ENST00000482026 human ensembl 74_37 +1 known frame_shift_del c.511 p.L173fs 0.996 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A3 HGNC ENSG00000243135 432 1 0.230947 385 71 15.5702 AGAP1 0 genome.wustl.edu 37 2 236649677 236649677 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 236649677 236649677 C - DEL AGAP1 ENST00000304032 human ensembl 74_37 +1 known frame_shift_del c.381 p.P129fs 0.952 pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 84 0 0 66 8 10.8108 COL6A3 0 genome.wustl.edu 37 2 238244864 238244866 + In_Frame_Del DEL GCA GCA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 238244864 238244866 GCA - DEL COL6A3 ENST00000295550 human ensembl 74_37 -1 known in_frame_del c.8879_8877 p.A2960in_frame_del 0.002:0.000:0.000 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 137 0 0 108 13 10.7438 ATAD2B 0 genome.wustl.edu 37 2 24098756 24098756 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 24098756 24098756 T - DEL ATAD2B ENST00000238789 human ensembl 74_37 -1 known frame_shift_del c.920 p.K307fs 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 23 0 0 33 8 19.5122 MAPRE3 0 genome.wustl.edu 37 2 27248517 27248517 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 27248517 27248517 C - DEL MAPRE3 ENST00000233121 human ensembl 74_37 +1 known frame_shift_del c.536 p.C182fs 1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 71 0 0 87 19 17.9245 CAD 0 genome.wustl.edu 37 2 27456981 27456982 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 27456981 27456982 - C INS CAD ENST00000264705 human ensembl 74_37 +1 known frame_shift_ins c.3505_3506 p.Q1172fs 1.000:1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 93 0 0 89 9 9.18367 ZNF513 0 genome.wustl.edu 37 2 27601696 27601696 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 27601696 27601696 G - DEL ZNF513 ENST00000323703 human ensembl 74_37 -1 known frame_shift_del c.437 p.P146fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF513 HGNC ENSG00000163795 18 0 0 26 4 13.3333 LCLAT1 0 genome.wustl.edu 37 2 30790958 30790959 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 30790958 30790959 - A INS LCLAT1 ENST00000309052 human ensembl 74_37 +1 known frame_shift_ins c.658_659 p.N222fs 1.000:1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC ENSG00000172954 120 0 0 91 8 8.08081 RPS7 0 genome.wustl.edu 37 2 3625326 3625326 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 3625326 3625326 A - DEL RPS7 ENST00000304921 human ensembl 74_37 +1 known frame_shift_del c.318 p.S108fs 1.000 pfam_Ribosomal_S7e pfam_Ribosomal_S7e - no_errors RPS7 HGNC ENSG00000171863 98 0 0 89 15 14.4231 LRPPRC 0 genome.wustl.edu 37 2 44145165 44145165 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 44145165 44145165 T - DEL LRPPRC ENST00000260665 human ensembl 74_37 -1 known frame_shift_del c.3147 p.A1051fs 0.844 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 77 0 0 57 17 22.973 MTIF2 0 genome.wustl.edu 37 2 55490777 55490777 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 55490777 55490777 T - DEL MTIF2 ENST00000263629 human ensembl 74_37 -1 known frame_shift_del c.218 p.K73fs 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 101 0 0 99 12 10.8108 UGP2 0 genome.wustl.edu 37 2 64111165 64111166 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 64111165 64111166 - A INS UGP2 ENST00000337130 human ensembl 74_37 +1 known frame_shift_ins c.513_514 p.I173fs 0.502:0.998 pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr - no_errors UGP2 HGNC ENSG00000169764 132 0 0 119 16 11.8519 PELI1 0 genome.wustl.edu 37 2 64322001 64322001 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 64322001 64322001 A - DEL PELI1 ENST00000358912 human ensembl 74_37 -1 known frame_shift_del c.1092 p.F364fs 1.000 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI1 HGNC ENSG00000197329 160 0 0 138 29 17.3653 ARHGAP25 0 genome.wustl.edu 37 2 69046341 69046341 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 69046341 69046341 C - DEL ARHGAP25 ENST00000409202 human ensembl 74_37 +1 known frame_shift_del c.1090 p.P365fs 0.985 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP25 HGNC ENSG00000163219 327 0 0 255 61 19.3038 SNRNP27 0 genome.wustl.edu 37 2 70131463 70131463 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 70131463 70131463 T - DEL SNRNP27 ENST00000409116 human ensembl 74_37 +1 novel frame_shift_del c.426 p.S145fs 0.141 NULL pfam_DUF1777 - no_errors SNRNP27 HGNC ENSG00000124380 124 1 0.8 83 37 30.8333 MPHOSPH10 0 genome.wustl.edu 37 2 71361201 71361203 + In_Frame_Del DEL GAA GAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 71361201 71361203 GAA - DEL MPHOSPH10 ENST00000244230 human ensembl 74_37 +1 known in_frame_del c.892_894 p.E300in_frame_del 0.788:0.745:0.189 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 125 0 0 129 14 9.79021 TPRKB 0 genome.wustl.edu 37 2 73957881 73957881 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 73957881 73957881 A - DEL TPRKB ENST00000485758 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors TPRKB HGNC ENSG00000144034 88 0 0 54 17 23.9437 TMEM150A 0 genome.wustl.edu 37 2 85827121 85827123 + In_Frame_Del DEL GCA GCA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 85827121 85827123 GCA - DEL TMEM150A ENST00000334462 human ensembl 74_37 -1 known in_frame_del c.289_287 p.L96in_frame_del 1.000:0.983:1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150A HGNC ENSG00000168890 80 0 0 73 12 14.1176 EIF2AK3 0 genome.wustl.edu 37 2 88882965 88882966 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 88882965 88882966 - T INS EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known frame_shift_ins c.1746_1745 p.N582fs 0.995:0.863 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 379 0 0 254 51 16.7213 TAF1B 0 genome.wustl.edu 37 2 9989571 9989572 + Frame_Shift_Del DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 9989571 9989572 AA - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187_188 p.N66fs 0.991:0.950 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 33 0 0 28 5 15.1515 EIF5B 0 genome.wustl.edu 37 2 99977649 99977650 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 2 99977649 99977650 - A INS EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_ins c.285_286 p.K98fs 0.928:0.998 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 103 0 0 81 8 8.98876 CST4 0 genome.wustl.edu 37 20 23667825 23667826 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 23667825 23667826 - C INS CST4 ENST00000217423 human ensembl 74_37 -1 known frame_shift_ins c.242_241 p.V81fs 0.002:0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST4 HGNC ENSG00000101441 224 0 0 210 25 10.6383 GINS1 0 genome.wustl.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 25422397 25422397 A - DEL GINS1 ENST00000262460 human ensembl 74_37 +1 known frame_shift_del c.507 p.N172fs 0.232 NULL NULL - no_errors GINS1 HGNC ENSG00000101003 183 0 0 112 17 13.1783 HM13 0 genome.wustl.edu 37 20 30142485 30142487 + RNA DEL AAA AAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 30142485 30142487 AAA - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172:0.159:0.155 - - - no_errors HM13 HGNC ENSG00000101294 21 0 0 23 7 23.3333 BPIFB4 0 genome.wustl.edu 37 20 31671213 31671214 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 31671213 31671214 - C INS BPIFB4 ENST00000375483 human ensembl 74_37 +1 known frame_shift_ins c.210_211 p.V73fs 0.020:0.030 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 167 0 0 130 18 12.1622 GDF5 0 genome.wustl.edu 37 20 34025412 34025412 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 34025412 34025412 G - DEL GDF5 ENST00000374369 human ensembl 74_37 -1 known frame_shift_del c.297 p.R100fs 0.990 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 81 0 0 71 11 13.4146 TTI1 0 genome.wustl.edu 37 20 36640782 36640784 + In_Frame_Del DEL GAA GAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 36640782 36640784 GAA - DEL TTI1 ENST00000373447 human ensembl 74_37 -1 known in_frame_del c.1437_1435 p.F479in_frame_del 1.000:1.000:1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 146 0 0 114 15 11.6279 IFT52 0 genome.wustl.edu 37 20 42232493 42232493 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 42232493 42232493 T - DEL IFT52 ENST00000373030 human ensembl 74_37 +1 known frame_shift_del c.301 p.L102fs 1.000 pfam_ABC_transp_unknown pfam_ABC_transp_unknown - no_errors IFT52 HGNC ENSG00000101052 162 0 0 132 16 10.8108 SLPI 0 genome.wustl.edu 37 20 43881730 43881731 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 43881730 43881731 - G INS SLPI ENST00000338380 human ensembl 74_37 -1 known frame_shift_ins c.307_306 p.N102fs 0.001:0.000 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core - no_errors SLPI HGNC ENSG00000124107 140 0 0 118 19 13.8686 CSE1L 0 genome.wustl.edu 37 20 47691907 47691908 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 47691907 47691908 - T INS CSE1L ENST00000262982 human ensembl 74_37 +1 known frame_shift_ins c.1185_1186 p.E397fs 1.000:1.000 pfam_Cse1,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 256 0 0 240 26 9.77444 ZNFX1 0 genome.wustl.edu 37 20 47872450 47872451 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 47872450 47872451 - T INS ZNFX1 ENST00000371752 human ensembl 74_37 -1 known frame_shift_ins c.2699_2698 p.R900fs 0.895:0.896 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 100 1 0.990099 69 14 16.8675 LAMA5 0 genome.wustl.edu 37 20 60885264 60885264 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 60885264 60885264 G - DEL LAMA5 ENST00000252999 human ensembl 74_37 -1 known frame_shift_del c.10704 p.Y3569fs 0.161 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 71 0 0 65 9 12.1622 PRPF6 0 genome.wustl.edu 37 20 62664288 62664290 + In_Frame_Del DEL AGA AGA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 62664288 62664290 AGA - DEL PRPF6 ENST00000266079 human ensembl 74_37 +1 known in_frame_del c.2768_2770 p.K925in_frame_del 1.000:1.000:1.000 NULL pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 69 0 0 66 6 8.33333 PLCB4 0 genome.wustl.edu 37 20 9353043 9353043 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 20 9353043 9353043 A - DEL PLCB4 ENST00000334005 human ensembl 74_37 +1 known frame_shift_del c.679 p.I229fs 1.000 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,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 - no_errors PLCB4 HGNC ENSG00000101333 135 0 0 85 20 19.0476 ADAMTS1 0 genome.wustl.edu 37 21 28210011 28210011 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 28210011 28210011 T - DEL ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known frame_shift_del c.2791 p.R931fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Pept_M12B_ADAM-TS1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 234 0 0 143 39 21.4286 IFNGR2 0 genome.wustl.edu 37 21 34799320 34799320 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 34799320 34799320 A - DEL IFNGR2 ENST00000290219 human ensembl 74_37 +1 known frame_shift_del c.542 p.G183fs 0.605 pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IFNGR2 HGNC ENSG00000159128 580 0 0 377 40 9.59233 ZBTB21 0 genome.wustl.edu 37 21 43413803 43413803 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 43413803 43413803 T - DEL ZBTB21 ENST00000310826 human ensembl 74_37 -1 known frame_shift_del c.402 p.V135fs 0.002 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 162 0 0 113 27 19.2857 PDE9A 0 genome.wustl.edu 37 21 44195538 44195539 + RNA DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 44195538 44195539 AA - DEL PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors PDE9A HGNC ENSG00000160191 34 0 0 25 6 19.3548 AGPAT3 0 genome.wustl.edu 37 21 45387993 45387993 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 45387993 45387993 G - DEL AGPAT3 ENST00000291572 human ensembl 74_37 +1 known frame_shift_del c.345 p.S117fs 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT3 HGNC ENSG00000160216 117 1 0.847458 83 18 17.8218 UBE2G2 0 genome.wustl.edu 37 21 46191156 46191157 + RNA DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 46191156 46191157 AA - DEL UBE2G2 ENST00000477954 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors UBE2G2 HGNC ENSG00000184787 17 0 0 15 4 21.0526 PCNT 0 genome.wustl.edu 37 21 47862415 47862416 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 21 47862415 47862416 - T INS PCNT ENST00000359568 human ensembl 74_37 +1 known frame_shift_ins c.9629_9630 p.L3212fs 0.883:0.663 pfam_PACT_domain pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 68 0 0 32 6 15.7895 TUBA8 0 genome.wustl.edu 37 22 18609266 18609266 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 18609266 18609266 C - DEL TUBA8 ENST00000330423 human ensembl 74_37 +1 known frame_shift_del c.521 p.Q176fs 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC ENSG00000183785 187 0 0 168 24 12.5 DGCR8 0 genome.wustl.edu 37 22 20094868 20094869 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 20094868 20094869 - G INS DGCR8 ENST00000351989 human ensembl 74_37 +1 known frame_shift_ins c.2071_2072 p.S693fs 1.000:1.000 NULL pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 146 0 0 127 23 15.3333 DGCR8 0 genome.wustl.edu 37 22 20097546 20097548 + Splice_Site DEL AGG AGG - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 20097546 20097548 AGG - DEL DGCR8 ENST00000351989 human ensembl 74_37 +1 known splice_site_del c.2239-2_2239-1 e13-1 0.983:1.000:1.000 - - - no_errors DGCR8 HGNC ENSG00000128191 60 0 0 76 11 12.6437 BCR 0 genome.wustl.edu 37 22 23523586 23523586 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 23523586 23523586 C - DEL BCR ENST00000305877 human ensembl 74_37 +1 known frame_shift_del c.439 p.A149fs 0.487 NULL pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 33 0 0 31 5 13.8889 RFPL1S 0 genome.wustl.edu 37 22 29835329 29835329 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 29835329 29835329 A - DEL RFPL1S ENST00000461286 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RFPL1S HGNC ENSG00000225465 14 0 0 12 4 25 TBC1D10A 0 genome.wustl.edu 37 22 30691732 30691732 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 30691732 30691732 C - DEL TBC1D10A ENST00000215790 human ensembl 74_37 -1 known frame_shift_del c.518 p.G173fs 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC ENSG00000099992 44 0 0 30 4 11.7647 ANKRD54 0 genome.wustl.edu 37 22 38229127 38229127 + RNA DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 38229127 38229127 G - DEL ANKRD54 ENST00000498417 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD54 HGNC ENSG00000100124 24 0 0 49 8 14.0351 JOSD1 0 genome.wustl.edu 37 22 39095945 39095946 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 39095945 39095946 - A INS JOSD1 ENST00000216039 human ensembl 74_37 -1 known frame_shift_ins c.48_47 p.L16fs 0.939:0.298 NULL pfam_Josephin,pfscan_Josephin - no_errors JOSD1 HGNC ENSG00000100221 349 0 0 266 51 16.0883 ZBED4 0 genome.wustl.edu 37 22 50277679 50277679 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 50277679 50277679 T - DEL ZBED4 ENST00000216268 human ensembl 74_37 +1 known frame_shift_del c.369 p.F125fs 0.944 pfam_Znf_BED_prd,smart_Znf_BED_prd,pfscan_Znf_BED_prd pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 138 0 0 106 16 13.1148 SBF1 0 genome.wustl.edu 37 22 50898726 50898727 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 22 50898726 50898727 - G INS SBF1 ENST00000380817 human ensembl 74_37 -1 known frame_shift_ins c.3258_3257 p.E1087fs 0.109:0.198 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 81 0 0 97 16 14.1593 TBC1D23 0 genome.wustl.edu 37 3 100039736 100039736 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 100039736 100039736 A - DEL TBC1D23 ENST00000394144 human ensembl 74_37 +1 known frame_shift_del c.1939 p.K649fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 138 0 0 75 19 20.2128 TFG 0 genome.wustl.edu 37 3 100463651 100463652 + RNA INS - - TG TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 100463651 100463652 - TG INS TFG ENST00000481203 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.002 - - - no_errors TFG HGNC ENSG00000114354 189 1 0.526316 127 21 14.1892 KIAA1524 0 genome.wustl.edu 37 3 108301828 108301828 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 108301828 108301828 A - DEL KIAA1524 ENST00000295746 human ensembl 74_37 -1 known frame_shift_del c.353 p.L118fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 55 0 0 34 12 26.087 PARP15 0 genome.wustl.edu 37 3 122345823 122345823 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 122345823 122345823 A - DEL PARP15 ENST00000464300 human ensembl 74_37 +1 known frame_shift_del c.1381 p.R463fs 0.149 pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC ENSG00000173200 174 0 0 146 26 15.1163 ABTB1 0 genome.wustl.edu 37 3 127396605 127396605 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 127396605 127396605 C - DEL ABTB1 ENST00000232744 human ensembl 74_37 +1 known frame_shift_del c.948 p.P318fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB1 HGNC ENSG00000114626 29 0 0 26 4 13.3333 CNTN6 0 genome.wustl.edu 37 3 1371501 1371501 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 1371501 1371501 A - DEL CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_del c.1246 p.K418fs 0.992 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 196 0 0 138 31 18.3432 PIK3CB 0 genome.wustl.edu 37 3 138413710 138413710 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 138413710 138413710 G - DEL PIK3CB ENST00000289153 human ensembl 74_37 -1 known frame_shift_del c.1810 p.R604fs 0.240 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 147 0 0 118 19 13.8686 ENSG00000244327 0 genome.wustl.edu 37 3 142184164 142184165 + RNA DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 142184164 142184165 AA - DEL ENSG00000244327 ENST00000460977 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 34 0 0 24 10 29.4118 PLSCR1 0 genome.wustl.edu 37 3 146234963 146234964 + RNA DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 146234963 146234964 AA - DEL PLSCR1 ENST00000484560 human ensembl 74_37 -1 putative rna NULL NULL 0.163:0.236 - - - no_errors PLSCR1 HGNC ENSG00000188313 56 0 0 53 18 25.3521 DHX36 0 genome.wustl.edu 37 3 154032860 154032860 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 154032860 154032860 T - DEL DHX36 ENST00000496811 human ensembl 74_37 -1 known frame_shift_del c.578 p.N193fs 0.790 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 127 1 0.78125 84 16 16 SEC62 0 genome.wustl.edu 37 3 169700664 169700664 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 169700664 169700664 A - DEL SEC62 ENST00000337002 human ensembl 74_37 +1 known frame_shift_del c.421 p.D144fs 1.000 pfam_Sec62,superfamily_ABC1_TM_dom pfam_Sec62,superfamily_ABC1_TM_dom - no_errors SEC62 HGNC ENSG00000008952 59 0 0 47 12 20.339 GPR160 0 genome.wustl.edu 37 3 169802469 169802469 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 169802469 169802469 A - DEL GPR160 ENST00000355897 human ensembl 74_37 +1 known frame_shift_del c.709 p.I239fs 0.030 pfscan_GPCR_Rhodpsn_7TM pfscan_GPCR_Rhodpsn_7TM - no_errors GPR160 HGNC ENSG00000173890 223 0 0 134 31 18.7879 TBC1D5 0 genome.wustl.edu 37 3 17255753 17255753 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 17255753 17255753 A - DEL TBC1D5 ENST00000253692 human ensembl 74_37 -1 known frame_shift_del c.1698 p.F566fs 0.092 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 130 0 0 86 22 20.3704 IL1RAP 0 genome.wustl.edu 37 3 190341140 190341140 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 190341140 190341140 A - DEL IL1RAP ENST00000443369 human ensembl 74_37 +1 known frame_shift_del c.711 p.N239fs 0.953 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL1RAP HGNC ENSG00000196083 188 0 0 122 32 20.7792 IL1RAP 0 genome.wustl.edu 37 3 190345194 190345194 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 190345194 190345194 A - DEL IL1RAP ENST00000443369 human ensembl 74_37 +1 known frame_shift_del c.858 p.K288fs 0.994 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL1RAP HGNC ENSG00000196083 150 0 0 120 16 11.7647 TNK2 0 genome.wustl.edu 37 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 195595228 195595229 - G INS TNK2 ENST00000381916 human ensembl 74_37 -1 known frame_shift_ins c.2130_2129 p.P711fs 0.449:0.994 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 30 0 0 30 3 9.09091 SGOL1 0 genome.wustl.edu 37 3 20212755 20212756 + RNA DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 20212755 20212756 AA - DEL SGOL1 ENST00000460637 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors SGOL1 HGNC ENSG00000129810 54 0 0 52 8 13.3333 RARB 0 genome.wustl.edu 37 3 25502726 25502727 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 25502726 25502727 - C INS RARB ENST00000404969 human ensembl 74_37 +1 known frame_shift_ins c.221_222 p.S77fs 1.000:1.000 prints_Retinoic_acid_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 159 0 0 118 23 16.3121 CELSR3 0 genome.wustl.edu 37 3 48689915 48689915 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 48689915 48689915 G - DEL CELSR3 ENST00000544264 human ensembl 74_37 -1 known frame_shift_del c.5706 p.G1903fs 0.001 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 95 0 0 75 9 10.7143 P4HTM 0 genome.wustl.edu 37 3 49042564 49042565 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 49042564 49042565 - T INS P4HTM ENST00000343546 human ensembl 74_37 +1 known frame_shift_ins c.1158_1159 p.P386fs 0.001:0.003 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 97 0 0 82 22 21.1538 BSN 0 genome.wustl.edu 37 3 49694496 49694496 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 49694496 49694496 C - DEL BSN ENST00000296452 human ensembl 74_37 +1 known frame_shift_del c.7507 p.T2506fs 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 78 0 0 66 7 9.58904 RBM6 0 genome.wustl.edu 37 3 50005145 50005145 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 50005145 50005145 G - DEL RBM6 ENST00000266022 human ensembl 74_37 +1 known frame_shift_del c.287 p.G98fs 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 216 1 0.460829 184 39 17.4888 PBRM1 0 genome.wustl.edu 37 3 52610623 52610623 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 52610623 52610623 T - DEL PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_del c.3625 p.M1209fs 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 177 0 0 145 24 14.2012 APPL1 0 genome.wustl.edu 37 3 57276921 57276921 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 57276921 57276921 A - DEL APPL1 ENST00000288266 human ensembl 74_37 +1 known frame_shift_del c.453 p.R154fs 0.881 NULL pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 130 0 0 120 16 11.7647 PTPRG 0 genome.wustl.edu 37 3 62189498 62189498 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 62189498 62189498 C - DEL PTPRG ENST00000474889 human ensembl 74_37 +1 known frame_shift_del c.2029 p.T679fs 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,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_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 50 0 0 34 11 24.4444 EPHA3 0 genome.wustl.edu 37 3 89499363 89499363 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 89499363 89499363 C - DEL EPHA3 ENST00000336596 human ensembl 74_37 +1 known frame_shift_del c.2533 p.M847fs 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 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_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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 - no_errors EPHA3 HGNC ENSG00000044524 107 0 0 87 7 7.44681 ARL13B 0 genome.wustl.edu 37 3 93755447 93755447 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 93755447 93755447 A - DEL ARL13B ENST00000394222 human ensembl 74_37 +1 known frame_shift_del c.538 p.G182fs 1.000 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 144 0 0 115 21 15.4412 GPR15 0 genome.wustl.edu 37 3 98251024 98251024 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 98251024 98251024 G - DEL GPR15 ENST00000284311 human ensembl 74_37 +1 known frame_shift_del c.147 p.N51fs 0.532 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR15 HGNC ENSG00000154165 104 0 0 109 19 14.8438 TTLL3 0 genome.wustl.edu 37 3 9859427 9859428 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 9859427 9859428 - A INS TTLL3 ENST00000426895 human ensembl 74_37 +1 known frame_shift_ins c.843_844 p.A283fs 0.996:1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL3 HGNC ENSG00000214021 156 0 0 151 34 18.3784 IL17RC 0 genome.wustl.edu 37 3 9958948 9958948 + RNA DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 3 9958948 9958948 G - DEL IL17RC ENST00000498214 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IL17RC HGNC ENSG00000163702 20 0 0 14 5 26.3158 BANK1 0 genome.wustl.edu 37 4 102946605 102946605 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 102946605 102946605 C - DEL BANK1 ENST00000322953 human ensembl 74_37 +1 known frame_shift_del c.1533 p.P513fs 0.001 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 54 0 0 54 5 8.47458 ZNF518B 0 genome.wustl.edu 37 4 10446690 10446690 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 10446690 10446690 A - DEL ZNF518B ENST00000326756 human ensembl 74_37 -1 known frame_shift_del c.1263 p.Q422fs 0.007 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 360 0 0 314 17 5.13595 TBCK 0 genome.wustl.edu 37 4 107156505 107156505 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 107156505 107156505 T - DEL TBCK ENST00000273980 human ensembl 74_37 -1 known frame_shift_del c.1370 p.N457fs 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 67 0 0 45 5 10 ETNPPL 0 genome.wustl.edu 37 4 109675790 109675791 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 109675790 109675791 - T INS ETNPPL ENST00000296486 human ensembl 74_37 -1 known frame_shift_ins c.487_486 p.E162fs 0.998:0.861 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors ETNPPL HGNC ENSG00000164089 154 0 0 133 23 14.7436 ALPK1 0 genome.wustl.edu 37 4 113352134 113352135 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 113352134 113352135 - A INS ALPK1 ENST00000177648 human ensembl 74_37 +1 known frame_shift_ins c.1431_1432 p.N478fs 0.000:0.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 142 0 0 93 25 21.1864 ANK2 0 genome.wustl.edu 37 4 114294543 114294543 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 114294543 114294543 G - DEL ANK2 ENST00000357077 human ensembl 74_37 +1 known frame_shift_del c.11797 p.D3934fs 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 231 0 0 177 45 20.2703 ARSJ 0 genome.wustl.edu 37 4 114823938 114823938 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 114823938 114823938 T - DEL ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_del c.1292 p.N431fs 0.996 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 245 0 0 227 12 5.02092 SCLT1 0 genome.wustl.edu 37 4 129924995 129924995 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 129924995 129924995 T - DEL SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_del c.327 p.K109fs 0.840 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 192 0 0 141 26 15.5689 PCDH10 0 genome.wustl.edu 37 4 134071648 134071649 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 134071648 134071649 - C INS PCDH10 ENST00000264360 human ensembl 74_37 +1 known frame_shift_ins c.353_354 p.S121fs 1.000:1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 120 0 0 105 15 12.5 SMARCA5 0 genome.wustl.edu 37 4 144469153 144469155 + In_Frame_Del DEL GAA GAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 144469153 144469155 GAA - DEL SMARCA5 ENST00000283131 human ensembl 74_37 +1 known in_frame_del c.2845_2847 p.E951in_frame_del 1.000:1.000:1.000 pfam_SLIDE,superfamily_Homeodomain-like,smart_SANT/Myb pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 134 0 0 108 13 10.7438 HHIP 0 genome.wustl.edu 37 4 145658978 145658978 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 145658978 145658978 A - DEL HHIP ENST00000296575 human ensembl 74_37 +1 known frame_shift_del c.1972 p.G660fs 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 179 0 0 120 22 15.493 CPEB2 0 genome.wustl.edu 37 4 15067858 15067858 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 15067858 15067858 T - DEL CPEB2 ENST00000538197 human ensembl 74_37 +1 known frame_shift_del c.2959 p.C989fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 186 0 0 155 33 17.5532 MAB21L2 0 genome.wustl.edu 37 4 151504961 151504961 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 151504961 151504961 C - DEL MAB21L2 ENST00000317605 human ensembl 74_37 +1 known frame_shift_del c.780 p.H261fs 0.993 pfam_Mab-21_dom,pfscan_Ricin_B_lectin pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 36 0 0 48 3 5.88235 FBXW7 0 genome.wustl.edu 37 4 153244114 153244115 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 153244114 153244115 - T INS FBXW7 ENST00000281708 human ensembl 74_37 -1 known frame_shift_ins c.2043_2042 p.L682fs 1.000:1.000 smart_WD40_repeat pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 306 0 0 249 59 19.1558 FGB 0 genome.wustl.edu 37 4 155488796 155488797 + Frame_Shift_Del DEL TA TA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 155488796 155488797 TA - DEL FGB ENST00000302068 human ensembl 74_37 +1 known frame_shift_del c.542_543 p.I183fs 0.002:0.001 pfam_Fibrinogen_a/b/g_coil_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGB HGNC ENSG00000171564 236 0 0 205 40 16.3265 DDX60 0 genome.wustl.edu 37 4 169182016 169182016 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 169182016 169182016 A - DEL DDX60 ENST00000393743 human ensembl 74_37 -1 known frame_shift_del c.3398 p.L1133fs 0.961 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 146 0 0 100 23 18.6992 TENM3 0 genome.wustl.edu 37 4 183714567 183714567 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 183714567 183714567 T - DEL TENM3 ENST00000406950 human ensembl 74_37 +1 known frame_shift_del c.6742 p.Y2250fs 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 121 0 0 74 15 16.8539 WWC2 0 genome.wustl.edu 37 4 184166576 184166576 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 184166576 184166576 A - DEL WWC2 ENST00000448232 human ensembl 74_37 +1 known frame_shift_del c.610 p.M206fs 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC2 HGNC ENSG00000151718 29 0 0 20 9 31.0345 NOP14-AS1 0 genome.wustl.edu 37 4 2952779 2952780 + RNA INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 2952779 2952780 - A INS NOP14-AS1 ENST00000515194 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors NOP14-AS1 HGNC ENSG00000249673 147 0 0 104 15 12.605 GRK4 0 genome.wustl.edu 37 4 3040280 3040283 + RNA DEL AAAA AAAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 3040280 3040283 AAAA - DEL GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.003:0.005:0.010 - - - no_errors GRK4 HGNC ENSG00000125388 76 0 0 79 15 15.9574 RGS12 0 genome.wustl.edu 37 4 3388122 3388123 + Frame_Shift_Del DEL TC TC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 3388122 3388123 TC - DEL RGS12 ENST00000538395 human ensembl 74_37 +1 known frame_shift_del c.4_5 p.L5fs 1.000:1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 202 0 0 151 19 11.1765 RGS12 0 genome.wustl.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 3430399 3430399 A - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3526 p.K1178fs 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 136 1 0.729927 114 29 20.2797 KLF3 0 genome.wustl.edu 37 4 38691476 38691476 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 38691476 38691476 C - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.671 p.P226fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 304 0 0 242 58 19.3333 TLR10 0 genome.wustl.edu 37 4 38774956 38774956 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 38774956 38774956 T - DEL TLR10 ENST00000308973 human ensembl 74_37 -1 known frame_shift_del c.2256 p.A753fs 0.718 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 235 0 0 158 39 19.797 TLR6 0 genome.wustl.edu 37 4 38830853 38830853 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 38830853 38830853 A - DEL TLR6 ENST00000381950 human ensembl 74_37 -1 known frame_shift_del c.242 p.L81fs 1.000 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,pfam_Cys-rich_flank_reg_C,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR6 HGNC ENSG00000174130 170 0 0 105 39 27.0833 C4orf6 0 genome.wustl.edu 37 4 5527116 5527116 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 5527116 5527116 T - DEL C4orf6 ENST00000195455 human ensembl 74_37 +1 known frame_shift_del c.59 p.F23fs 0.077 NULL NULL - no_errors C4orf6 HGNC ENSG00000082929 29 0 0 37 7 15.9091 TMEM165 0 genome.wustl.edu 37 4 56277913 56277913 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 56277913 56277913 T - DEL TMEM165 ENST00000381334 human ensembl 74_37 +1 known frame_shift_del c.340 p.F115fs 0.998 pfam_UPF0016 pfam_UPF0016 - no_errors TMEM165 HGNC ENSG00000134851 96 0 0 72 12 14.2857 EVC2 0 genome.wustl.edu 37 4 5633548 5633549 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 5633548 5633549 - T INS EVC2 ENST00000344408 human ensembl 74_37 -1 known frame_shift_ins c.1682_1681 p.M561fs 0.001:0.003 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 279 0 0 214 39 15.415 EXOC1 0 genome.wustl.edu 37 4 56765964 56765965 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 56765964 56765965 - A INS EXOC1 ENST00000346134 human ensembl 74_37 +1 known frame_shift_ins c.2251_2252 p.E754fs 1.000:1.000 pfam_Exocyst_Exoc1/SEC3 pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 219 0 0 154 35 18.5185 KIAA1211 0 genome.wustl.edu 37 4 57179503 57179503 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 57179503 57179503 A - DEL KIAA1211 ENST00000504228 human ensembl 74_37 +1 known frame_shift_del c.495 p.K167fs 0.997 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 171 1 0.581395 144 25 14.7929 ENAM 0 genome.wustl.edu 37 4 71503555 71503555 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 71503555 71503555 G - DEL ENAM ENST00000396073 human ensembl 74_37 +1 known frame_shift_del c.583 p.N197fs 0.994 NULL NULL - no_errors ENAM HGNC ENSG00000132464 212 0 0 183 20 9.85222 AFM 0 genome.wustl.edu 37 4 74347532 74347532 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 74347532 74347532 T - DEL AFM ENST00000226355 human ensembl 74_37 +1 known frame_shift_del c.40 p.L16fs 0.970 pirsf_Serum_albumin/AFP pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 126 0 0 90 18 16.6667 C4orf26 0 genome.wustl.edu 37 4 76489680 76489680 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 76489680 76489680 A - DEL C4orf26 ENST00000435974 human ensembl 74_37 +1 putative frame_shift_del c.468 p.S159fs 0.001 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 194 0 0 169 33 16.3366 ABLIM2 0 genome.wustl.edu 37 4 8021936 8021937 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 8021936 8021937 - T INS ABLIM2 ENST00000447017 human ensembl 74_37 -1 known frame_shift_ins c.1362_1361 p.H454fs 1.000:1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 37 0 0 39 9 18.75 ANTXR2 0 genome.wustl.edu 37 4 80905990 80905990 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 80905990 80905990 C - DEL ANTXR2 ENST00000307333 human ensembl 74_37 -1 known frame_shift_del c.1069 p.A357fs 0.559 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 22 0 0 15 4 21.0526 C4orf22 0 genome.wustl.edu 37 4 81791254 81791254 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 81791254 81791254 A - DEL C4orf22 ENST00000508675 human ensembl 74_37 +1 known frame_shift_del c.492 p.R167fs 0.769 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 212 2 0.934579 154 26 14.4444 SEC31A 0 genome.wustl.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 83785565 83785565 T - DEL SEC31A ENST00000432794 human ensembl 74_37 -1 known frame_shift_del c.1384 p.I462fs 0.985 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 148 0 0 107 22 17.0543 GRID2 0 genome.wustl.edu 37 4 93225753 93225754 + RNA DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 4 93225753 93225754 AA - DEL GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GRID2 HGNC ENSG00000152208 39 0 0 35 9 20.4545 GIN1 0 genome.wustl.edu 37 5 102442607 102442607 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 102442607 102442607 T - DEL GIN1 ENST00000399004 human ensembl 74_37 -1 known frame_shift_del c.146 p.K49fs 1.000 NULL pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors GIN1 HGNC ENSG00000145723 44 0 0 43 5 10.4167 EPB41L4A 0 genome.wustl.edu 37 5 111500730 111500731 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 111500730 111500731 - T INS EPB41L4A ENST00000261486 human ensembl 74_37 -1 known frame_shift_ins c.2018_2017 p.T673fs 0.998:1.000 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 89 0 0 81 13 13.8298 RAPGEF6 0 genome.wustl.edu 37 5 130782332 130782332 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 130782332 130782332 T - DEL RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known frame_shift_del c.3265 p.R1089fs 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 308 0 0 253 52 17.0492 ACSL6 0 genome.wustl.edu 37 5 131329853 131329854 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 131329853 131329854 - A INS ACSL6 ENST00000296869 human ensembl 74_37 -1 known frame_shift_ins c.141_140 p.R48fs 1.000:1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 55 0 0 50 3 5.66038 ARAP3 0 genome.wustl.edu 37 5 141052870 141052870 + RNA DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 141052870 141052870 G - DEL ARAP3 ENST00000524066 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ARAP3 HGNC ENSG00000120318 16 0 0 13 5 27.7778 NDFIP1 0 genome.wustl.edu 37 5 141511526 141511527 + RNA DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 141511526 141511527 AA - DEL NDFIP1 ENST00000509436 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors NDFIP1 HGNC ENSG00000131507 62 0 0 61 23 27.381 KCTD16 0 genome.wustl.edu 37 5 143853531 143853531 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 143853531 143853531 A - DEL KCTD16 ENST00000507359 human ensembl 74_37 +1 known frame_shift_del c.1141 p.A384fs 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 118 1 0.840336 134 30 18.2927 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 253 1 0.393701 181 41 18.4685 SPINK5 0 genome.wustl.edu 37 5 147481387 147481387 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 147481387 147481387 T - DEL SPINK5 ENST00000359874 human ensembl 74_37 +1 known frame_shift_del c.1346 p.C451fs 0.045 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 150 0 0 115 21 15.4412 CSF1R 0 genome.wustl.edu 37 5 149460476 149460476 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 149460476 149460476 G - DEL CSF1R ENST00000286301 human ensembl 74_37 -1 known frame_shift_del c.161 p.P54fs 0.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 75 0 0 73 9 10.9756 SYNPO 0 genome.wustl.edu 37 5 150028880 150028881 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 150028880 150028881 - C INS SYNPO ENST00000394243 human ensembl 74_37 +1 known frame_shift_ins c.1775_1776 p.K594fs 0.984:0.931 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 148 0 0 121 18 12.9496 FAM114A2 0 genome.wustl.edu 37 5 153382463 153382465 + In_Frame_Del DEL CTT CTT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 153382463 153382465 CTT - DEL FAM114A2 ENST00000351797 human ensembl 74_37 -1 known in_frame_del c.1060_1058 p.E353in_frame_del 1.000:1.000:1.000 NULL pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 423 0 0 325 52 13.7931 MYO10 0 genome.wustl.edu 37 5 16694606 16694606 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 16694606 16694606 C - DEL MYO10 ENST00000513610 human ensembl 74_37 -1 known frame_shift_del c.3674 p.G1225fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 132 0 0 125 27 17.7632 ZFR 0 genome.wustl.edu 37 5 32404161 32404161 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 32404161 32404161 T - DEL ZFR ENST00000265069 human ensembl 74_37 -1 known frame_shift_del c.1074 p.E359fs 1.000 smart_Znf_U1 pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 267 0 0 208 36 14.7541 NIPBL 0 genome.wustl.edu 37 5 36985083 36985083 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 36985083 36985083 A - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.1801 p.K603fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 158 0 0 130 8 5.7971 PLK2 0 genome.wustl.edu 37 5 57753012 57753012 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 57753012 57753012 A - DEL PLK2 ENST00000274289 human ensembl 74_37 -1 known frame_shift_del c.1004 p.L335fs 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 91 0 0 79 16 16.8421 CD180 0 genome.wustl.edu 37 5 66478727 66478727 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 66478727 66478727 A - DEL CD180 ENST00000256447 human ensembl 74_37 -1 known frame_shift_del c.1944 p.F648fs 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CD180 HGNC ENSG00000134061 98 0 0 91 17 15.7407 WDR41 0 genome.wustl.edu 37 5 76728856 76728856 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 76728856 76728856 A - DEL WDR41 ENST00000512033 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors WDR41 HGNC ENSG00000164253 68 0 0 46 7 13.2075 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141 p.K383fs 0.982 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 333 0 0 209 80 27.6817 CETN3 0 genome.wustl.edu 37 5 89701581 89701581 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 5 89701581 89701581 T - DEL CETN3 ENST00000283122 human ensembl 74_37 -1 known frame_shift_del c.189 p.A64fs 1.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN3 HGNC ENSG00000153140 169 0 0 121 16 11.6788 MCHR2 0 genome.wustl.edu 37 6 100382358 100382358 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 100382358 100382358 A - DEL MCHR2 ENST00000281806 human ensembl 74_37 -1 known frame_shift_del c.623 p.F208fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 229 2 0.865801 181 31 14.6226 MARCKS 0 genome.wustl.edu 37 6 114181210 114181211 + Frame_Shift_Del DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 114181210 114181211 AA - DEL MARCKS ENST00000368635 human ensembl 74_37 +1 known frame_shift_del c.454_455 p.K155fs 1.000:1.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 22 0 0 33 8 19.5122 HS3ST5 0 genome.wustl.edu 37 6 114379084 114379084 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 114379084 114379084 A - DEL HS3ST5 ENST00000312719 human ensembl 74_37 -1 known frame_shift_del c.378 p.F126fs 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST5 HGNC ENSG00000249853 299 0 0 240 53 18.0887 FAM184A 0 genome.wustl.edu 37 6 119345777 119345777 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 119345777 119345777 T - DEL FAM184A ENST00000338891 human ensembl 74_37 -1 known frame_shift_del c.361 p.M121fs 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 160 0 0 122 17 12.2302 NCOA7 0 genome.wustl.edu 37 6 126176317 126176317 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 126176317 126176317 A - DEL NCOA7 ENST00000368357 human ensembl 74_37 +1 known frame_shift_del c.202 p.K70fs 1.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 268 0 0 251 41 14.0411 ENSG00000227678 0 genome.wustl.edu 37 6 130454856 130454856 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 130454856 130454856 T - DEL ENSG00000227678 ENST00000415964 human ensembl 74_37 -1 known rna NULL NULL 0.125 - - - no_errors RP11-73O6.3 Clone_based_vega_gene ENSG00000227678 42 0 0 32 12 27.2727 ARG1 0 genome.wustl.edu 37 6 131894346 131894346 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 131894346 131894346 A - DEL ARG1 ENST00000469293 human ensembl 74_37 +1 known rna NULL NULL 0.285 - - - no_errors ARG1 HGNC ENSG00000118520 55 0 0 48 6 11.1111 MED23 0 genome.wustl.edu 37 6 131917389 131917389 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 131917389 131917389 T - DEL MED23 ENST00000479213 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED23 HGNC ENSG00000112282 18 0 0 17 6 26.087 VNN1 0 genome.wustl.edu 37 6 133035130 133035131 + Frame_Shift_Del DEL AT AT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 133035130 133035131 AT - DEL VNN1 ENST00000367928 human ensembl 74_37 -1 known frame_shift_del c.45_44 p.Y15fs 0.000:0.279 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN1 HGNC ENSG00000112299 92 0 0 84 10 10.6383 CCDC28A 0 genome.wustl.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 139097330 139097330 A - DEL CCDC28A ENST00000332797 human ensembl 74_37 +1 known frame_shift_del c.343 p.N117fs 1.000 NULL NULL - no_errors CCDC28A HGNC ENSG00000024862 182 1 0.546448 145 21 12.6506 GPR126 0 genome.wustl.edu 37 6 142718831 142718831 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 142718831 142718831 A - DEL GPR126 ENST00000367609 human ensembl 74_37 +1 known frame_shift_del c.1506 p.N504fs 0.254 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 90 0 0 62 12 16.2162 KATNBL1P6 0 genome.wustl.edu 37 6 147124761 147124762 + RNA INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 147124761 147124762 - T INS KATNBL1P6 ENST00000562413 human ensembl 74_37 -1 known rna NULL NULL 0.941:0.936 - - - no_errors KATNBL1P6 HGNC ENSG00000228283 84 0 0 67 8 10.6667 FBXO5 0 genome.wustl.edu 37 6 153292227 153292227 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 153292227 153292227 T - DEL FBXO5 ENST00000477822 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FBXO5 HGNC ENSG00000112029 46 0 0 32 9 21.9512 MTRF1L 0 genome.wustl.edu 37 6 153319770 153319770 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 153319770 153319770 A - DEL MTRF1L ENST00000485283 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors MTRF1L HGNC ENSG00000112031 67 0 0 56 8 12.5 WTAP 0 genome.wustl.edu 37 6 160157395 160157395 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 160157395 160157395 A - DEL WTAP ENST00000494513 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WTAP HGNC ENSG00000146457 106 0 0 61 13 17.5676 RBM24 0 genome.wustl.edu 37 6 17292449 17292449 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 17292449 17292449 A - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915 - - - no_errors RBM24 HGNC ENSG00000112183 43 0 0 34 8 19.0476 ZKSCAN4 0 genome.wustl.edu 37 6 28219672 28219674 + In_Frame_Del DEL CTT CTT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 28219672 28219674 CTT - DEL ZKSCAN4 ENST00000377294 human ensembl 74_37 -1 known in_frame_del c.87_85 p.K29in_frame_del 0.057:0.013:0.003 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN4 HGNC ENSG00000187626 162 0 0 141 31 18.0233 PGBD1 0 genome.wustl.edu 37 6 28269629 28269630 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 28269629 28269630 - A INS PGBD1 ENST00000259883 human ensembl 74_37 +1 known frame_shift_ins c.1998_1999 p.M668fs 1.000:1.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 229 0 0 168 38 18.4466 PPP1R2P1 0 genome.wustl.edu 37 6 32847201 32847201 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 32847201 32847201 T - DEL PPP1R2P1 ENST00000420261 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors PPP1R2P1 HGNC ENSG00000234515 43 0 0 43 11 20.3704 SYNGAP1 0 genome.wustl.edu 37 6 33405837 33405837 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 33405837 33405837 G - DEL SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known frame_shift_del c.1155 p.G387fs 0.009 NULL pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 35 0 0 40 11 21.5686 ZBTB9 0 genome.wustl.edu 37 6 33424006 33424006 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 33424006 33424006 C - DEL ZBTB9 ENST00000395064 human ensembl 74_37 +1 known frame_shift_del c.1129 p.P378fs 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB9 HGNC ENSG00000213588 58 0 0 50 10 16.6667 UHRF1BP1 0 genome.wustl.edu 37 6 34839369 34839369 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 34839369 34839369 C - DEL UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known frame_shift_del c.3990 p.I1333fs 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 156 0 0 103 22 17.6 PRPF4B 0 genome.wustl.edu 37 6 4052975 4052975 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 4052975 4052975 A - DEL PRPF4B ENST00000337659 human ensembl 74_37 +1 known frame_shift_del c.2334 p.K780fs 1.000 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 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 PRPF4B HGNC ENSG00000112739 111 0 0 85 6 6.59341 PTCHD4 0 genome.wustl.edu 37 6 47846151 47846151 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 47846151 47846151 A - DEL PTCHD4 ENST00000339488 human ensembl 74_37 -1 known frame_shift_del c.2429 p.F810fs 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 196 0 0 162 35 17.7665 DST 0 genome.wustl.edu 37 6 56499695 56499695 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 56499695 56499695 T - DEL DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_del c.3144 p.A1049fs 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 335 0 0 227 60 20.9059 EYS 0 genome.wustl.edu 37 6 66205125 66205125 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 66205125 66205125 A - DEL EYS ENST00000370616 human ensembl 74_37 -1 known frame_shift_del c.179 p.L60fs 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 319 1 0.3125 249 61 19.6774 SMAP1 0 genome.wustl.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 71508370 71508370 A - DEL SMAP1 ENST00000370455 human ensembl 74_37 +1 known frame_shift_del c.506 p.K172fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 8 0 0 3 4 57.1429 RREB1 0 genome.wustl.edu 37 6 7232077 7232077 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 7232077 7232077 C - DEL RREB1 ENST00000379938 human ensembl 74_37 +1 known frame_shift_del c.3745 p.H1250fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 52 0 0 70 9 11.3924 COL12A1 0 genome.wustl.edu 37 6 75893269 75893269 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 75893269 75893269 A - DEL COL12A1 ENST00000322507 human ensembl 74_37 -1 known frame_shift_del c.1388 p.L463fs 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 168 0 0 148 32 17.7778 SENP6 0 genome.wustl.edu 37 6 76425169 76425169 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 76425169 76425169 A - DEL SENP6 ENST00000370014 human ensembl 74_37 +1 known frame_shift_del c.3198 p.R1068fs 0.983 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 213 0 0 156 36 18.75 TTK 0 genome.wustl.edu 37 6 80720630 80720630 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 80720630 80720630 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.569 p.K192fs 0.007 NULL 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 TTK HGNC ENSG00000112742 201 0 0 173 28 13.9303 SYNCRIP 0 genome.wustl.edu 37 6 86332349 86332350 + Frame_Shift_Del DEL CT CT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 86332349 86332350 CT - DEL SYNCRIP ENST00000369622 human ensembl 74_37 -1 known frame_shift_del c.859_858 p.G287fs 1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 365 0 0 236 34 12.5926 USP45 0 genome.wustl.edu 37 6 99894246 99894246 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 6 99894246 99894246 C - DEL USP45 ENST00000327681 human ensembl 74_37 -1 known frame_shift_del c.1402 p.D468fs 0.106 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP45 HGNC ENSG00000123552 141 0 0 106 24 18.4615 SLC26A3 0 genome.wustl.edu 37 7 107427311 107427311 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 107427311 107427311 T - DEL SLC26A3 ENST00000340010 human ensembl 74_37 -1 known frame_shift_del c.932 p.N311fs 0.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 238 0 0 173 15 7.97872 NRCAM 0 genome.wustl.edu 37 7 107816975 107816976 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 107816975 107816976 - T INS NRCAM ENST00000379028 human ensembl 74_37 -1 known frame_shift_ins c.3051_3050 p.N1017fs 1.000:1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NRCAM HGNC ENSG00000091129 195 0 0 143 30 17.341 TMEM168 0 genome.wustl.edu 37 7 112407336 112407336 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 112407336 112407336 A - DEL TMEM168 ENST00000312814 human ensembl 74_37 -1 known frame_shift_del c.2010 p.F670fs 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 164 0 0 126 21 14.2857 SND1 0 genome.wustl.edu 37 7 127732228 127732229 + RNA DEL CA CA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 127732228 127732229 CA - DEL SND1 ENST00000485871 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.991 - - - no_errors SND1 HGNC ENSG00000197157 24 0 0 21 3 12.5 UBN2 0 genome.wustl.edu 37 7 138958066 138958066 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 138958066 138958066 A - DEL UBN2 ENST00000473989 human ensembl 74_37 +1 known frame_shift_del c.1739 p.N582fs 1.000 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 111 0 0 102 8 7.27273 BRAF 0 genome.wustl.edu 37 7 140482926 140482927 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 140482926 140482927 - G INS BRAF ENST00000288602 human ensembl 74_37 -1 known frame_shift_ins c.1209_1208 p.A404fs 1.000:1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 102 0 0 94 7 6.93069 MGAM 0 genome.wustl.edu 37 7 141631635 141631635 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 141631635 141631635 A - DEL MGAM ENST00000497554 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors MGAM HGNC ENSG00000257335 110 1 0.900901 70 30 30 ZNF777 0 genome.wustl.edu 37 7 149129965 149129966 + In_Frame_Ins INS - - TCC TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 149129965 149129966 - TCC INS ZNF777 ENST00000247930 human ensembl 74_37 -1 known in_frame_ins c.1398_1397 p.466in_frame_insE 0.025:0.090 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 23 0 0 20 4 16.6667 ZNF777 0 genome.wustl.edu 37 7 149152696 149152696 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 149152696 149152696 G - DEL ZNF777 ENST00000247930 human ensembl 74_37 -1 known frame_shift_del c.418 p.L140fs 0.261 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 263 0 0 234 39 14.2857 NME8 0 genome.wustl.edu 37 7 37903996 37903997 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 37903996 37903997 - A INS NME8 ENST00000199447 human ensembl 74_37 +1 known frame_shift_ins c.501_502 p.V169fs 0.000:0.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 62 0 0 35 5 12.5 C7orf57 0 genome.wustl.edu 37 7 48086205 48086205 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 48086205 48086205 A - DEL C7orf57 ENST00000348904 human ensembl 74_37 +1 known frame_shift_del c.499 p.K169fs 1.000 NULL NULL - no_errors C7orf57 HGNC ENSG00000164746 19 0 0 15 5 25 ZNF716 0 genome.wustl.edu 37 7 57528542 57528542 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 57528542 57528542 A - DEL ZNF716 ENST00000420713 human ensembl 74_37 +1 known frame_shift_del c.375 p.K127fs 0.128 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 ZNF716 HGNC ENSG00000182111 78 0 0 47 12 20.339 ZNF680 0 genome.wustl.edu 37 7 64004763 64004765 + In_Frame_Del DEL CTC CTC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 64004763 64004765 CTC - DEL ZNF680 ENST00000309683 human ensembl 74_37 -1 known in_frame_del c.78_76 p.E26in_frame_del 0.273:0.269:0.259 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF680 HGNC ENSG00000173041 290 0 0 210 35 14.2857 ABCB4 0 genome.wustl.edu 37 7 87074281 87074282 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 87074281 87074282 - A INS ABCB4 ENST00000265723 human ensembl 74_37 -1 known frame_shift_ins c.1016_1015 p.S339fs 1.000:1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 56 0 0 50 4 7.40741 C7orf63 0 genome.wustl.edu 37 7 89929188 89929188 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 89929188 89929188 A - DEL C7orf63 ENST00000389297 human ensembl 74_37 +1 known frame_shift_del c.1865 p.K624fs 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 63 0 0 48 13 21.3115 CYP51A1 0 genome.wustl.edu 37 7 91752494 91752494 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 91752494 91752494 T - DEL CYP51A1 ENST00000003100 human ensembl 74_37 -1 known frame_shift_del c.1026 p.K342fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 304 0 0 218 45 17.1103 PEX1 0 genome.wustl.edu 37 7 92147069 92147069 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 92147069 92147069 A - DEL PEX1 ENST00000248633 human ensembl 74_37 -1 known frame_shift_del c.760 p.S254fs 1.000 NULL pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 165 0 0 127 16 11.1888 SAMD9L 0 genome.wustl.edu 37 7 92761060 92761061 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 92761060 92761061 - T INS SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_ins c.4225_4224 p.Q1408fs 0.904:0.665 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 494 0 0 411 69 14.375 PVRIG 0 genome.wustl.edu 37 7 99817848 99817848 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 7 99817848 99817848 G - DEL PVRIG ENST00000317271 human ensembl 74_37 +1 known frame_shift_del c.230 p.G79fs 0.520 NULL NULL - no_errors PVRIG HGNC ENSG00000213413 8 0 0 9 3 25 RGS22 0 genome.wustl.edu 37 8 100990178 100990178 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 100990178 100990178 T - DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_del c.3486 p.K1162fs 0.010 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 155 0 0 122 22 15.2778 RGS22 0 genome.wustl.edu 37 8 100990287 100990288 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 100990287 100990288 - C INS RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_ins c.3377_3376 p.V1126fs 1.000:1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 91 0 0 91 19 17.2727 NCALD 0 genome.wustl.edu 37 8 102701625 102701626 + Frame_Shift_Del DEL GA GA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 102701625 102701626 GA - DEL NCALD ENST00000311028 human ensembl 74_37 -1 known frame_shift_del c.494_493 p.S165fs 1.000:1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors NCALD HGNC ENSG00000104490 20 0 0 20 4 16.6667 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 284 1 0.350877 249 38 13.2404 SOX7 0 genome.wustl.edu 37 8 10583646 10583646 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 10583646 10583646 G - DEL SOX7 ENST00000553390 human ensembl 74_37 -1 known frame_shift_del c.925 p.L309fs 0.665 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 54 0 0 58 6 9.375 SLA 0 genome.wustl.edu 37 8 134063100 134063100 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 134063100 134063100 G - DEL SLA ENST00000427060 human ensembl 74_37 -1 known frame_shift_del c.242 p.P81fs 0.999 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 110 0 0 128 9 6.56934 COL22A1 0 genome.wustl.edu 37 8 139609210 139609210 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 139609210 139609210 C - DEL COL22A1 ENST00000303045 human ensembl 74_37 -1 known frame_shift_del c.4369 p.E1457fs 0.999 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 259 0 0 280 15 5.08475 MAPK15 0 genome.wustl.edu 37 8 144804319 144804319 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 144804319 144804319 G - DEL MAPK15 ENST00000338033 human ensembl 74_37 +1 known frame_shift_del c.1533 p.G513fs 1.000 NULL 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 MAPK15 HGNC ENSG00000181085 141 0 0 163 24 12.8342 CYC1 0 genome.wustl.edu 37 8 145150875 145150876 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 145150875 145150876 - C INS CYC1 ENST00000318911 human ensembl 74_37 +1 known frame_shift_ins c.269_270 p.S93fs 1.000:1.000 superfamily_Cyt_c-like_dom pfam_Cyt_c1,superfamily_Cyt_c-like_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC ENSG00000179091 86 0 0 98 9 8.41121 CYC1 0 genome.wustl.edu 37 8 145150906 145150908 + In_Frame_Del DEL CCT CCT - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 145150906 145150908 CCT - DEL CYC1 ENST00000318911 human ensembl 74_37 +1 known in_frame_del c.300_302 p.L102in_frame_del 0.999:0.998:0.999 pfam_Cyt_c1,superfamily_Cyt_c-like_dom,prints_Cyt_c1 pfam_Cyt_c1,superfamily_Cyt_c-like_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC ENSG00000179091 104 0 0 108 16 12.9032 ARHGAP39 0 genome.wustl.edu 37 8 145773483 145773483 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 145773483 145773483 G - DEL ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known frame_shift_del c.987 p.M330fs 0.997 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 46 0 0 87 5 5.43478 TNFRSF10D 0 genome.wustl.edu 37 8 23003346 23003347 + Frame_Shift_Ins INS - - C TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 23003346 23003347 - C INS TNFRSF10D ENST00000312584 human ensembl 74_37 -1 known frame_shift_ins c.571_570 p.K190fs 0.019:0.026 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10D HGNC ENSG00000173530 166 1 0.598802 161 29 15.2632 ADAMDEC1 0 genome.wustl.edu 37 8 24257686 24257686 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 24257686 24257686 A - DEL ADAMDEC1 ENST00000256412 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 0.044 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 55 0 0 41 10 19.6078 NEFM 0 genome.wustl.edu 37 8 24773137 24773137 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 24773137 24773137 A - DEL NEFM ENST00000221166 human ensembl 74_37 +1 known frame_shift_del c.1100 p.N368fs 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 156 0 0 169 27 13.7755 CDCA2 0 genome.wustl.edu 37 8 25364716 25364716 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 25364716 25364716 A - DEL CDCA2 ENST00000330560 human ensembl 74_37 +1 known frame_shift_del c.2534 p.N847fs 0.018 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 167 0 0 128 32 20 SDAD1P1 0 genome.wustl.edu 37 8 26238130 26238130 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 26238130 26238130 T - DEL SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDAD1P1 HGNC ENSG00000228451 121 0 0 130 7 5.10949 ESCO2 0 genome.wustl.edu 37 8 27633949 27633949 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 27633949 27633949 A - DEL ESCO2 ENST00000305188 human ensembl 74_37 +1 known frame_shift_del c.124 p.N43fs 0.325 NULL NULL - no_errors ESCO2 HGNC ENSG00000171320 57 0 0 56 12 17.6471 NRG1 0 genome.wustl.edu 37 8 32607050 32607050 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 32607050 32607050 T - DEL NRG1 ENST00000523681 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NRG1 HGNC ENSG00000157168 158 0 0 167 31 15.6566 PRKDC 0 genome.wustl.edu 37 8 48701555 48701555 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 48701555 48701555 T - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.10811 p.N3604fs 0.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,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 PRKDC HGNC ENSG00000253729 125 0 0 104 20 16.129 SNAI2 0 genome.wustl.edu 37 8 49831439 49831439 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 49831439 49831439 T - DEL SNAI2 ENST00000020945 human ensembl 74_37 -1 known frame_shift_del c.734 p.N245fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 266 0 0 194 30 13.3929 MYBL1 0 genome.wustl.edu 37 8 67488453 67488453 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 67488453 67488453 T - DEL MYBL1 ENST00000522677 human ensembl 74_37 -1 known frame_shift_del c.1259 p.N420fs 0.992 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 358 2 0.555556 378 60 13.6986 SULF1 0 genome.wustl.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 70514026 70514026 T - DEL SULF1 ENST00000260128 human ensembl 74_37 +1 known frame_shift_del c.1023 p.F343fs 0.786 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 596 1 0.167504 539 87 13.8978 KCNB2 0 genome.wustl.edu 37 8 73480397 73480397 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 73480397 73480397 A - DEL KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_del c.428 p.E146fs 1.000 prints_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 161 0 0 154 43 21.8274 STAU2 0 genome.wustl.edu 37 8 74507471 74507471 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 74507471 74507471 T - DEL STAU2 ENST00000524300 human ensembl 74_37 -1 known frame_shift_del c.1091 p.N364fs 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU2 HGNC ENSG00000040341 200 0 0 168 26 13.4021 LY96 0 genome.wustl.edu 37 8 74903693 74903693 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 74903693 74903693 T - DEL LY96 ENST00000284818 human ensembl 74_37 +1 known frame_shift_del c.16 p.S8fs 0.009 NULL pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom - no_errors LY96 HGNC ENSG00000154589 268 0 0 229 38 14.2322 ZNF705B 0 genome.wustl.edu 37 8 7806751 7806751 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 7806751 7806751 A - DEL ZNF705B ENST00000400120 human ensembl 74_37 +1 known frame_shift_del c.113 p.N39fs 0.972 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF705B HGNC ENSG00000215356 319 0 0 404 23 5.38642 LRRCC1 0 genome.wustl.edu 37 8 86047209 86047209 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 86047209 86047209 A - DEL LRRCC1 ENST00000360375 human ensembl 74_37 +1 known frame_shift_del c.2096 p.T701fs 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 236 0 0 177 27 13.2353 KIAA1429 0 genome.wustl.edu 37 8 95531562 95531563 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 95531562 95531563 - A INS KIAA1429 ENST00000297591 human ensembl 74_37 -1 known frame_shift_ins c.2164_2163 p.M721fs 1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 152 0 0 149 18 10.7784 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 130 0 0 95 23 19.4915 SNORA72 0 genome.wustl.edu 37 8 99054837 99054839 + RNA DEL AAA AAA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 8 99054837 99054839 AAA - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.049:0.047:0.041 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 86 0 0 118 19 13.8686 XPA 0 genome.wustl.edu 37 9 100437634 100437634 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 100437634 100437634 T - DEL XPA ENST00000485042 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors XPA HGNC ENSG00000136936 20 0 0 9 7 43.75 BAAT 0 genome.wustl.edu 37 9 104133686 104133686 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 104133686 104133686 T - DEL BAAT ENST00000259407 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 0.425 pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 93 0 0 74 15 16.8539 CYLC2 0 genome.wustl.edu 37 9 105767324 105767324 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 105767324 105767324 A - DEL CYLC2 ENST00000374798 human ensembl 74_37 +1 known frame_shift_del c.411 p.D140fs 0.000 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 56 0 0 41 7 14.5833 SMC2 0 genome.wustl.edu 37 9 106862450 106862450 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 106862450 106862450 A - DEL SMC2 ENST00000286398 human ensembl 74_37 +1 known frame_shift_del c.557 p.K188fs 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 48 0 0 44 11 20 KIAA0368 0 genome.wustl.edu 37 9 114125875 114125875 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 114125875 114125875 T - DEL KIAA0368 ENST00000259335 human ensembl 74_37 -1 known frame_shift_del c.5907 p.K1969fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 102 0 0 94 18 16.0714 ASTN2 0 genome.wustl.edu 37 9 119382602 119382602 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 119382602 119382602 G - DEL ASTN2 ENST00000313400 human ensembl 74_37 -1 known frame_shift_del c.3193 p.L1065fs 1.000 superfamily_Fibronectin_type3 pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 146 0 0 120 23 16.0839 C9orf78 0 genome.wustl.edu 37 9 132595850 132595850 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 132595850 132595850 T - DEL C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors C9orf78 HGNC ENSG00000136819 109 0 0 70 23 24.7312 GTF3C5 0 genome.wustl.edu 37 9 135919245 135919245 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 135919245 135919245 C - DEL GTF3C5 ENST00000372108 human ensembl 74_37 +1 known frame_shift_del c.504 p.P170fs 1.000 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 156 0 0 155 20 11.4286 C9orf142 0 genome.wustl.edu 37 9 139887571 139887572 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 139887571 139887572 - G INS C9orf142 ENST00000371620 human ensembl 74_37 +1 known frame_shift_ins c.297_298 p.P101fs 0.000:0.003 NULL NULL - no_errors C9orf142 HGNC ENSG00000148362 101 0 0 70 14 16.6667 PSIP1 0 genome.wustl.edu 37 9 15472612 15472613 + RNA DEL AA AA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 15472612 15472613 AA - DEL PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors PSIP1 HGNC ENSG00000164985 150 0 0 74 63 45.9854 FOCAD 0 genome.wustl.edu 37 9 20912931 20912931 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 20912931 20912931 A - DEL FOCAD ENST00000338382 human ensembl 74_37 +1 known frame_shift_del c.2785 p.S931fs 1.000 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 66 0 0 54 8 12.9032 KIAA1045 0 genome.wustl.edu 37 9 34977144 34977144 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 34977144 34977144 G - DEL KIAA1045 ENST00000242315 human ensembl 74_37 +1 known frame_shift_del c.914 p.G306fs 0.000 NULL superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 102 0 0 94 9 8.73786 C9orf131 0 genome.wustl.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 35043650 35043650 C - DEL C9orf131 ENST00000312292 human ensembl 74_37 +1 known frame_shift_del c.1024 p.C344fs 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 435 0 0 400 51 11.3082 RUSC2 0 genome.wustl.edu 37 9 35547974 35547974 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 35547974 35547974 C - DEL RUSC2 ENST00000361226 human ensembl 74_37 +1 known frame_shift_del c.1456 p.N488fs 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 151 0 0 128 13 9.21986 MELK 0 genome.wustl.edu 37 9 36630152 36630152 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 36630152 36630152 T - DEL MELK ENST00000480021 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MELK HGNC ENSG00000165304 102 0 0 84 15 15.1515 SPATA6L 0 genome.wustl.edu 37 9 4663310 4663310 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 4663310 4663310 T - DEL SPATA6L ENST00000497383 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SPATA6L HGNC ENSG00000106686 143 0 0 136 24 15 JAK2 0 genome.wustl.edu 37 9 5126304 5126304 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 5126304 5126304 A - DEL JAK2 ENST00000487310 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors JAK2 HGNC ENSG00000096968 70 0 0 59 14 19.1781 ERMP1 0 genome.wustl.edu 37 9 5801292 5801292 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 5801292 5801292 T - DEL ERMP1 ENST00000339450 human ensembl 74_37 -1 known frame_shift_del c.1951 p.T651fs 0.994 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 169 0 0 139 17 10.8974 ERMP1 0 genome.wustl.edu 37 9 5805191 5805191 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 5805191 5805191 A - DEL ERMP1 ENST00000339450 human ensembl 74_37 -1 known frame_shift_del c.1750 p.Y584fs 0.999 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 57 0 0 52 11 17.4603 KIAA2026 0 genome.wustl.edu 37 9 5968487 5968487 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 5968487 5968487 T - DEL KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel frame_shift_del c.1744 p.T582fs 0.800 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 209 0 0 164 10 5.74713 VPS13A 0 genome.wustl.edu 37 9 79836219 79836219 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 79836219 79836219 A - DEL VPS13A ENST00000360280 human ensembl 74_37 +1 known frame_shift_del c.1108 p.K372fs 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 195 0 0 155 22 12.4294 VPS13A 0 genome.wustl.edu 37 9 79984308 79984308 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 79984308 79984308 T - DEL VPS13A ENST00000360280 human ensembl 74_37 +1 known frame_shift_del c.8647 p.Y2885fs 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 231 0 0 191 25 11.5741 PTPRD 0 genome.wustl.edu 37 9 8518185 8518185 + Frame_Shift_Del DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 8518185 8518185 C - DEL PTPRD ENST00000356435 human ensembl 74_37 -1 known frame_shift_del c.1206 p.P403fs 0.455 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 - no_errors PTPRD HGNC ENSG00000153707 258 0 0 205 39 15.9836 UBQLN1 0 genome.wustl.edu 37 9 86284162 86284164 + In_Frame_Del DEL ACA ACA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 86284162 86284164 ACA - DEL UBQLN1 ENST00000376395 human ensembl 74_37 -1 known in_frame_del c.1186_1184 p.L395in_frame_del 1.000:1.000:1.000 superfamily_XPC-bd,smart_STI1_HS-bd pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC ENSG00000135018 124 0 0 95 20 17.3913 ENSG00000229454 0 genome.wustl.edu 37 9 88370966 88370966 + RNA DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 88370966 88370966 T - DEL ENSG00000229454 ENST00000447148 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-202I11.2 Clone_based_vega_gene ENSG00000229454 44 0 0 28 10 26.3158 C9orf89 0 genome.wustl.edu 37 9 95872833 95872833 + RNA DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 95872833 95872833 C - DEL C9orf89 ENST00000488630 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C9orf89 HGNC ENSG00000165233 96 0 0 83 15 15.3061 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 32 0 0 30 6 16.6667 ZMAT1 0 genome.wustl.edu 37 X 101138347 101138347 + RNA DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 101138347 101138347 A - DEL ZMAT1 ENST00000494068 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZMAT1 HGNC ENSG00000166432 17 0 0 8 3 27.2727 ZBTB33 0 genome.wustl.edu 37 X 119387857 119387857 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 119387857 119387857 T - DEL ZBTB33 ENST00000326624 human ensembl 74_37 +1 known frame_shift_del c.587 p.C198fs 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 150 0 0 101 9 8.18182 ZBTB33 0 genome.wustl.edu 37 X 119389224 119389225 + Frame_Shift_Ins INS - - T TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 119389224 119389225 - T INS ZBTB33 ENST00000326624 human ensembl 74_37 +1 known frame_shift_ins c.1954_1955 p.K654fs 0.979:0.986 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 258 0 0 150 28 15.7303 DDX26B 0 genome.wustl.edu 37 X 134680317 134680317 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 134680317 134680317 T - DEL DDX26B ENST00000370752 human ensembl 74_37 +1 known frame_shift_del c.352 p.L120fs 1.000 pfscan_VWF_A pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 150 0 0 66 20 23.2558 SPANXN2 0 genome.wustl.edu 37 X 142803692 142803692 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 142803692 142803692 T - DEL SPANXN2 ENST00000370498 human ensembl 74_37 -1 known frame_shift_del c.71 p.N24fs 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN2 HGNC ENSG00000203924 516 2 0.3861 270 92 25.4144 AFF2 0 genome.wustl.edu 37 X 148037970 148037970 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 148037970 148037970 A - DEL AFF2 ENST00000370460 human ensembl 74_37 +1 known frame_shift_del c.2395 p.N800fs 0.995 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 219 0 0 141 43 23.3696 ACE2 0 genome.wustl.edu 37 X 15619104 15619105 + RNA DEL TC TC - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 15619104 15619105 TC - DEL ACE2 ENST00000484756 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.697 - - - no_errors ACE2 HGNC ENSG00000130234 34 0 0 14 8 36.3636 SCARNA23 0 genome.wustl.edu 37 X 24762687 24762688 + RNA DEL TA TA - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 24762687 24762688 TA - DEL SCARNA23 ENST00000516060 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors SCARNA23 HGNC ENSG00000251869 325 1 0.306748 156 33 17.4603 DMD 0 genome.wustl.edu 37 X 32591746 32591746 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 32591746 32591746 A - DEL DMD ENST00000357033 human ensembl 74_37 -1 known frame_shift_del c.1713 p.F571fs 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 233 0 0 138 18 11.5385 RPGR 0 genome.wustl.edu 37 X 38144857 38144857 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 38144857 38144857 T - DEL RPGR ENST00000378505 human ensembl 74_37 -1 known frame_shift_del c.3395 p.N1132fs 0.069 NULL pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 512 0 0 290 85 22.6667 GPR82 0 genome.wustl.edu 37 X 41587149 41587149 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 41587149 41587149 A - DEL GPR82 ENST00000302548 human ensembl 74_37 +1 known frame_shift_del c.870 p.N292fs 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR82 HGNC ENSG00000171657 186 0 0 100 29 22.4806 EFHC2 0 genome.wustl.edu 37 X 44094660 44094660 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 44094660 44094660 A - DEL EFHC2 ENST00000420999 human ensembl 74_37 -1 known frame_shift_del c.1314 p.F438fs 0.996 smart_Uncharacterised_DM10 pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC2 HGNC ENSG00000183690 38 0 0 14 4 22.2222 SSX3 0 genome.wustl.edu 37 X 48209462 48209463 + Frame_Shift_Ins INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 48209462 48209463 - G INS SSX3 ENST00000298396 human ensembl 74_37 -1 known frame_shift_ins c.426_425 p.P145fs 0.000:0.000 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX3 HGNC ENSG00000165584 564 0 0 401 25 5.86854 CACNA1F 0 genome.wustl.edu 37 X 49061829 49061830 + Splice_Site INS - - G TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 49061829 49061830 - G INS CACNA1F ENST00000376265 human ensembl 74_37 -1 known splice_site_ins c.5704-3_5704-2 e48-2 0.994:0.042 - - - no_errors CACNA1F HGNC ENSG00000102001 21 0 0 13 5 27.7778 GSPT2 0 genome.wustl.edu 37 X 51487864 51487865 + Frame_Shift_Ins INS - - A TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 51487864 51487865 - A INS GSPT2 ENST00000340438 human ensembl 74_37 +1 known frame_shift_ins c.1142_1143 p.D384fs 1.000:0.997 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 101 0 0 71 19 21.1111 ARHGEF9 0 genome.wustl.edu 37 X 62974233 62974233 + RNA DEL C C - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 62974233 62974233 C - DEL ARHGEF9 ENST00000495564 human ensembl 74_37 -1 known rna NULL NULL 0.963 - - - no_errors ARHGEF9 HGNC ENSG00000131089 104 0 0 43 18 29.5082 IL2RG 0 genome.wustl.edu 37 X 70327614 70327614 + Frame_Shift_Del DEL G G - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 70327614 70327614 G - DEL IL2RG ENST00000374202 human ensembl 74_37 -1 known frame_shift_del c.1082 p.P361fs 0.874 NULL pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 42 0 0 32 10 23.8095 HDX 0 genome.wustl.edu 37 X 83724297 83724297 + Frame_Shift_Del DEL T T - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 83724297 83724297 T - DEL HDX ENST00000297977 human ensembl 74_37 -1 known frame_shift_del c.434 p.N145fs 0.993 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HDX HGNC ENSG00000165259 431 0 0 268 68 20.2381 ZNF711 0 genome.wustl.edu 37 X 84526621 84526621 + Frame_Shift_Del DEL A A - TCGA-CG-5728-01A-11D-1600-08 TCGA-CG-5728-11A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 49bb40de-9ebf-441a-b9e1-0916ed9db4b0 173dbb7e-7f46-4581-aaf6-7f5b7f734788 X 84526621 84526621 A - DEL ZNF711 ENST00000395402 human ensembl 74_37 +1 known frame_shift_del c.2097 p.K701fs 0.506 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 283 0 0 158 36 18.5567