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 AGL 0 genome.wustl.edu 37 1 100353617 100353617 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 100353617 100353617 G A SNP AGL ENST00000294724 human ensembl 74_37 +1 known missense c.2765 p.C922Y 0.995 tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 53 0 0 93 26 21.8487 SLC35A3 0 genome.wustl.edu 37 1 100480939 100480939 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 100480939 100480939 G A SNP SLC35A3 ENST00000370153 human ensembl 74_37 +1 known missense c.842 p.G281E 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A3 HGNC ENSG00000117620 75 0 0 63 16 20.2532 S1PR1 0 genome.wustl.edu 37 1 101705604 101705604 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 101705604 101705604 C T SNP S1PR1 ENST00000305352 human ensembl 74_37 +1 known missense c.1064 p.S355L 1.000 prints_EDG1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors S1PR1 HGNC ENSG00000170989 152 0 0 126 58 31.5217 OLFM3 0 genome.wustl.edu 37 1 102270106 102270106 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 102270106 102270106 G A SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known silent c.1125 p.N375 1.000 pfam_Olfac-like,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 26 0 0 102 34 25 SLC25A24 0 genome.wustl.edu 37 1 108681756 108681756 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 108681756 108681756 G A SNP SLC25A24 ENST00000565488 human ensembl 74_37 -1 known silent c.1173 p.C391 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,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A24 HGNC ENSG00000085491 62 0 0 79 32 28.8288 SORT1 0 genome.wustl.edu 37 1 109857386 109857386 + Missense_Mutation SNP A A C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 109857386 109857386 A C SNP SORT1 ENST00000256637 human ensembl 74_37 -1 known missense c.2265 p.N755K 0.973 NULL pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 41 0 0 45 17 27.4194 AMPD1 0 genome.wustl.edu 37 1 115217434 115217434 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 115217434 115217434 G A SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.1838 p.T613I 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 92 0 0 88 36 29.0323 WARS2 0 genome.wustl.edu 37 1 119575735 119575735 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 119575735 119575735 G A SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known silent c.882 p.S294 0.004 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 169 0 0 155 72 31.7181 MXRA8 0 genome.wustl.edu 37 1 1290438 1290438 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 1290438 1290438 G A SNP MXRA8 ENST00000445648 human ensembl 74_37 -1 known silent c.573 p.H191 0.216 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 29 0 0 17 9 34.6154 ENSG00000203849 0 genome.wustl.edu 37 1 142713769 142713769 + RNA SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 142713769 142713769 T C SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.900 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 16 0 0 42 16 27.5862 ANKRD35 0 genome.wustl.edu 37 1 145561338 145561338 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 145561338 145561338 G A SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known silent c.1026 p.Q342 0.942 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 ANKRD35 HGNC ENSG00000198483 31 0 0 32 17 34.6939 CHD1L 0 genome.wustl.edu 37 1 146757977 146757977 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 146757977 146757977 T C SNP CHD1L ENST00000369258 human ensembl 74_37 +1 known missense c.2021 p.M674T 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 41 0 0 77 31 28.7037 GJA8 0 genome.wustl.edu 37 1 147380609 147380609 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 147380609 147380609 G A SNP GJA8 ENST00000240986 human ensembl 74_37 +1 known missense c.527 p.R176Q 0.999 pfam_Connexin_CCC pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC ENSG00000121634 110 0 0 115 30 20.6897 HIST2H2BB 0 genome.wustl.edu 37 1 149398889 149398889 + RNA SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 149398889 149398889 C T SNP HIST2H2BB ENST00000609585 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HIST2H2BB HGNC ENSG00000240929 162 0 0 187 32 14.6119 SEMA6C 0 genome.wustl.edu 37 1 151108547 151108547 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 151108547 151108547 G A SNP SEMA6C ENST00000368913 human ensembl 74_37 -1 known missense c.1199 p.P400L 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 113 0 0 93 27 22.5 ZNF687 0 genome.wustl.edu 37 1 151261166 151261166 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 151261166 151261166 C T SNP ZNF687 ENST00000324048 human ensembl 74_37 +1 known missense c.2278 p.R760C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 176 0 0 142 48 25.2632 CGN 0 genome.wustl.edu 37 1 151491196 151491196 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 151491196 151491196 G A SNP CGN ENST00000271636 human ensembl 74_37 +1 known silent c.201 p.V67 1.000 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 103 0 0 95 33 25.7812 CGN 0 genome.wustl.edu 37 1 151508742 151508742 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 151508742 151508742 G A SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.3227 p.R1076Q 1.000 pfam_Myosin_tail pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 75 0 0 85 27 24.1071 RORC 0 genome.wustl.edu 37 1 151785741 151785741 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 151785741 151785741 C T SNP RORC ENST00000392697 human ensembl 74_37 -1 known missense c.1310 p.G437D 0.995 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_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,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORC HGNC ENSG00000143365 526 1 0.189753 477 130 21.4168 TCHHL1 0 genome.wustl.edu 37 1 152058006 152058006 + Missense_Mutation SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 152058006 152058006 T G SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.2152 p.N718H 0.001 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 149 0 0 198 68 25.5639 FLG 0 genome.wustl.edu 37 1 152286125 152286125 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 152286125 152286125 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1237 p.G413R 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 449 0 0 512 175 25.4731 LCE5A 0 genome.wustl.edu 37 1 152484143 152484143 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 152484143 152484143 C A SNP LCE5A ENST00000334269 human ensembl 74_37 +1 known missense c.133 p.P45T 0.003 NULL NULL - no_errors LCE5A HGNC ENSG00000186207 162 0 0 223 36 13.8996 S100A7A 0 genome.wustl.edu 37 1 153390650 153390650 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 153390650 153390650 G T SNP S100A7A ENST00000329256 human ensembl 74_37 +1 known missense c.92 p.S31I 0.000 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A7A HGNC ENSG00000184330 180 0 0 192 57 22.8916 S100A14 0 genome.wustl.edu 37 1 153587727 153587727 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 153587727 153587727 A G SNP S100A14 ENST00000344616 human ensembl 74_37 -1 known missense c.161 p.L54P 1.000 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub - no_errors S100A14 HGNC ENSG00000189334 81 0 0 89 13 12.7451 RAB13 0 genome.wustl.edu 37 1 153954777 153954777 + RNA SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 153954777 153954777 C A SNP RAB13 ENST00000462680 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RAB13 HGNC ENSG00000143545 169 1 0.588235 148 25 14.4509 RAB13 0 genome.wustl.edu 37 1 153955391 153955391 + RNA SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 153955391 153955391 C T SNP RAB13 ENST00000462680 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RAB13 HGNC ENSG00000143545 12 0 0 15 4 21.0526 KCNN3 0 genome.wustl.edu 37 1 154680583 154680583 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 154680583 154680583 G T SNP KCNN3 ENST00000271915 human ensembl 74_37 -1 novel missense c.2065 p.L689M 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 191 0 0 186 46 19.8276 ADAM15 0 genome.wustl.edu 37 1 155034995 155034995 + RNA SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 155034995 155034995 G A SNP ADAM15 ENST00000461234 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADAM15 HGNC ENSG00000143537 26 0 0 24 10 29.4118 THBS3 0 genome.wustl.edu 37 1 155167338 155167338 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 155167338 155167338 G A SNP THBS3 ENST00000368378 human ensembl 74_37 -1 known silent c.2415 p.Y805 0.971 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 108 0 0 105 38 26.5734 CLK2 0 genome.wustl.edu 37 1 155237889 155237889 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 155237889 155237889 T C SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known missense c.583 p.I195V 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 CLK2 HGNC ENSG00000176444 191 0 0 211 24 10.2128 PKLR 0 genome.wustl.edu 37 1 155264997 155264997 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 155264997 155264997 C T SNP PKLR ENST00000342741 human ensembl 74_37 -1 known missense c.604 p.V202M 1.000 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_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 PKLR HGNC ENSG00000143627 251 0 0 249 95 27.6163 ASH1L 0 genome.wustl.edu 37 1 155449273 155449273 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 155449273 155449273 G A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.3388 p.P1130S 1.000 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 63 0 0 90 26 22.4138 ASH1L 0 genome.wustl.edu 37 1 155451950 155451950 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 155451950 155451950 C T SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known silent c.711 p.P237 1.000 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 119 0 0 142 55 27.9188 PAQR6 0 genome.wustl.edu 37 1 156214585 156214585 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 156214585 156214585 C T SNP PAQR6 ENST00000335852 human ensembl 74_37 -1 known missense c.409 p.E137K 0.997 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR6 HGNC ENSG00000160781 58 0 0 60 12 16.6667 ARHGEF11 0 genome.wustl.edu 37 1 156909822 156909822 + RNA SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 156909822 156909822 C A SNP ARHGEF11 ENST00000487682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGEF11 HGNC ENSG00000132694 17 0 0 28 7 20 PYHIN1 0 genome.wustl.edu 37 1 158908274 158908274 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 158908274 158908274 C T SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known missense c.353 p.A118V 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 89 0 0 98 29 22.8346 PYHIN1 0 genome.wustl.edu 37 1 158911818 158911818 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 158911818 158911818 C T SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known nonsense c.631 p.R211* 0.000 pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 48 0 0 82 28 25.4545 IFI16 0 genome.wustl.edu 37 1 159024668 159024668 + Missense_Mutation SNP A A T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 159024668 159024668 A T SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.2335 p.T779S 0.047 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 9 0 0 4 8 66.6667 PEX19 0 genome.wustl.edu 37 1 160251955 160251955 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 160251955 160251955 G T SNP PEX19 ENST00000532643 human ensembl 74_37 -1 known missense c.382 p.H128N 1.000 NULL NULL - no_errors PEX19 HGNC ENSG00000162735 100 1 0.990099 92 39 29.771 FCRLA 0 genome.wustl.edu 37 1 161680505 161680505 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 161680505 161680505 T C SNP FCRLA ENST00000540926 human ensembl 74_37 +1 known missense c.80 p.V27A 0.001 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLA HGNC ENSG00000132185 38 0 0 33 17 34 FCRLB 0 genome.wustl.edu 37 1 161695962 161695962 + RNA SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 161695962 161695962 G A SNP FCRLB ENST00000495397 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors FCRLB HGNC ENSG00000162746 19 0 0 27 7 20.5882 OLFML2B 0 genome.wustl.edu 37 1 161953686 161953686 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 161953686 161953686 C T SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.2032 p.V678I 1.000 pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 174 0 0 178 55 23.6052 CROCC 0 genome.wustl.edu 37 1 17281945 17281945 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 17281945 17281945 C T SNP CROCC ENST00000375541 human ensembl 74_37 +1 known nonsense c.3604 p.R1202* 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 18 0 0 15 8 34.7826 RC3H1 0 genome.wustl.edu 37 1 173951935 173951935 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 173951935 173951935 C T SNP RC3H1 ENST00000258349 human ensembl 74_37 -1 known missense c.698 p.R233Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 122 0 0 117 45 27.7778 RABGAP1L 0 genome.wustl.edu 37 1 174780992 174780992 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 174780992 174780992 A G SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known missense c.2234 p.Q745R 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_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 RABGAP1L HGNC ENSG00000152061 79 0 0 119 21 15 ASTN1 0 genome.wustl.edu 37 1 176918359 176918359 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 176918359 176918359 C T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known silent c.2040 p.P680 0.478 smart_EG-like_dom superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 93 0 0 92 17 15.5963 RCC2 0 genome.wustl.edu 37 1 17747226 17747226 + Silent SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 17747226 17747226 A G SNP RCC2 ENST00000375433 human ensembl 74_37 -1 known silent c.843 p.P281 0.998 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors RCC2 HGNC ENSG00000179051 119 0 0 107 31 22.4638 KIAA1614 0 genome.wustl.edu 37 1 180886022 180886022 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 180886022 180886022 C T SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known silent c.783 p.S261 0.000 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 376 1 0.265252 338 106 23.8739 COLGALT2 0 genome.wustl.edu 37 1 183908027 183908027 + Silent SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 183908027 183908027 C A SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known silent c.1749 p.V583 1.000 NULL pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 124 0 0 138 46 25 TRMT1L 0 genome.wustl.edu 37 1 185106864 185106864 + Missense_Mutation SNP A A T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 185106864 185106864 A T SNP TRMT1L ENST00000367506 human ensembl 74_37 -1 known missense c.1387 p.L463M 0.989 pfam_TRM1 pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors TRMT1L HGNC ENSG00000121486 129 0 0 174 49 21.9731 CDC73 0 genome.wustl.edu 37 1 193107230 193107230 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 193107230 193107230 C T SNP CDC73 ENST00000367435 human ensembl 74_37 +1 known missense c.439 p.R147C 1.000 NULL pfam_RNA_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 197 0 0 215 69 24.2958 CFH 0 genome.wustl.edu 37 1 196648770 196648770 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 196648770 196648770 C T SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.637 p.P213S 0.123 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 CFH HGNC ENSG00000000971 18 0 0 44 6 12 F13B 0 genome.wustl.edu 37 1 197026313 197026313 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 197026313 197026313 A G SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.1001 p.V334A 0.000 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 F13B HGNC ENSG00000143278 24 0 0 88 27 23.4783 KIF14 0 genome.wustl.edu 37 1 200522567 200522567 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 200522567 200522567 G A SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known silent c.4896 p.S1632 0.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 181 0 0 241 75 23.7342 PPP1R12B 0 genome.wustl.edu 37 1 202318225 202318225 + Silent SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 202318225 202318225 T G SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known silent c.246 p.A82 0.549 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 45 0 0 51 15 22.7273 TMCC2 0 genome.wustl.edu 37 1 205238752 205238752 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 205238752 205238752 C T SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known silent c.1422 p.G474 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 100 0 0 118 7 5.6 KLHDC8A 0 genome.wustl.edu 37 1 205312590 205312590 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 205312590 205312590 C T SNP KLHDC8A ENST00000367155 human ensembl 74_37 -1 known missense c.143 p.C48Y 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC8A HGNC ENSG00000162873 93 0 0 84 24 22.2222 CTSE 0 genome.wustl.edu 37 1 206328752 206328752 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 206328752 206328752 C T SNP CTSE ENST00000361052 human ensembl 74_37 +1 known silent c.834 p.S278 0.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSE HGNC ENSG00000196188 92 0 0 112 38 25.3333 CR1L 0 genome.wustl.edu 37 1 207881608 207881608 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 207881608 207881608 C T SNP CR1L ENST00000508064 human ensembl 74_37 +1 known nonsense c.1414 p.Q472* 0.352 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 CR1L HGNC ENSG00000197721 89 0 0 135 44 24.581 SLC30A1 0 genome.wustl.edu 37 1 211751694 211751694 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 211751694 211751694 G A SNP SLC30A1 ENST00000367001 human ensembl 74_37 -1 known silent c.261 p.I87 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A1 HGNC ENSG00000170385 25 0 0 31 4 11.4286 CENPF 0 genome.wustl.edu 37 1 214814768 214814768 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 214814768 214814768 T C SNP CENPF ENST00000366955 human ensembl 74_37 +1 known silent c.3087 p.C1029 1.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 68 0 0 133 33 19.8795 GPATCH2 0 genome.wustl.edu 37 1 217671533 217671533 + RNA SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 217671533 217671533 G A SNP GPATCH2 ENST00000485274 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GPATCH2 HGNC ENSG00000092978 20 0 0 44 12 21.4286 HSPG2 0 genome.wustl.edu 37 1 22174254 22174254 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 22174254 22174254 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.7953 p.C2651 0.079 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 19 0 0 28 5 15.1515 DISP1 0 genome.wustl.edu 37 1 223156446 223156446 + Silent SNP A A C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 223156446 223156446 A C SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.534 p.P178 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 69 0 0 98 28 22.2222 DISP1 0 genome.wustl.edu 37 1 223176379 223176379 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 223176379 223176379 G A SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel missense c.1640 p.R547H 1.000 pfam_Patched,pfam_MMPL_dom,pfscan_SSD pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 93 0 0 129 30 18.8679 PSEN2 0 genome.wustl.edu 37 1 227075861 227075861 + Splice_Site SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 227075861 227075861 T C SNP PSEN2 ENST00000391872 human ensembl 74_37 +1 known splice_site c.665+2 e5+2 1.000 - - - no_errors PSEN2 HGNC ENSG00000143801 97 0 0 82 38 31.6667 ZBTB40 0 genome.wustl.edu 37 1 22843935 22843935 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 22843935 22843935 C T SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known silent c.2811 p.S937 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 76 0 0 90 11 10.8911 OBSCN 0 genome.wustl.edu 37 1 228476440 228476440 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 228476440 228476440 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.10190 p.R3397H 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,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 104 0 0 78 35 30.9735 OBSCN 0 genome.wustl.edu 37 1 228496852 228496852 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 228496852 228496852 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.12792 p.G4264 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,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 16 0 0 9 10 52.6316 MAP10 0 genome.wustl.edu 37 1 232941415 232941415 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 232941415 232941415 G A SNP MAP10 ENST00000418460 human ensembl 74_37 +1 known missense c.646 p.G216S 0.381 NULL NULL - no_errors MAP10 HGNC ENSG00000212916 11 0 0 21 9 30 KIAA1804 0 genome.wustl.edu 37 1 233497844 233497844 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 233497844 233497844 C T SNP KIAA1804 ENST00000366624 human ensembl 74_37 +1 known nonsense c.1357 p.Q453* 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 33 0 0 30 12 28.5714 RYR2 0 genome.wustl.edu 37 1 237872219 237872219 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 237872219 237872219 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.9957 p.P3319 0.000 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 26 0 0 25 5 16.6667 RYR2 0 genome.wustl.edu 37 1 237947592 237947592 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 237947592 237947592 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.12598 p.E4200K 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 75 0 0 124 36 22.5 GRHL3 0 genome.wustl.edu 37 1 24669458 24669458 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 24669458 24669458 G A SNP GRHL3 ENST00000350501 human ensembl 74_37 +1 known silent c.1362 p.T454 0.788 NULL pfam_CP2,superfamily_C2_dom - no_errors GRHL3 HGNC ENSG00000158055 291 0 0 236 90 27.6074 CNST 0 genome.wustl.edu 37 1 246797236 246797236 + Silent SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 246797236 246797236 A G SNP CNST ENST00000366513 human ensembl 74_37 +1 known silent c.627 p.A209 1.000 NULL NULL - no_errors CNST HGNC ENSG00000162852 78 0 0 57 19 25 ZNF496 0 genome.wustl.edu 37 1 247464565 247464565 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 247464565 247464565 C T SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known silent c.1128 p.P376 0.000 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_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 70 0 0 78 22 22 OR11L1 0 genome.wustl.edu 37 1 248005039 248005039 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 248005039 248005039 G A SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known nonsense c.160 p.R54* 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 67 0 0 37 10 21.2766 OR2L8 0 genome.wustl.edu 37 1 248112877 248112877 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 248112877 248112877 T C SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.718 p.C240R 0.998 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 OR2L8 HGNC ENSG00000196936 136 1 0.729927 247 17 6.43939 OR2T2 0 genome.wustl.edu 37 1 248616240 248616240 + Missense_Mutation SNP C C G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 248616240 248616240 C G SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known missense c.142 p.L48V 0.099 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 OR2T2 HGNC ENSG00000196240 82 0 0 169 23 11.9792 FGR 0 genome.wustl.edu 37 1 27949552 27949552 + Splice_Site SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 27949552 27949552 C T SNP FGR ENST00000374003 human ensembl 74_37 -1 known splice_site c.329+1 e2+1 1.000 - - - no_errors FGR HGNC ENSG00000000938 58 0 0 52 15 22.3881 LAPTM5 0 genome.wustl.edu 37 1 31208095 31208095 + Nonsense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 31208095 31208095 G T SNP LAPTM5 ENST00000294507 human ensembl 74_37 -1 known nonsense c.624 p.C208* 0.958 pfam_LAPTM4/5,tigrfam_LAPTM_4A/5 pfam_LAPTM4/5,tigrfam_LAPTM_4A/5 - no_errors LAPTM5 HGNC ENSG00000162511 287 1 0.347222 250 69 21.6301 COL16A1 0 genome.wustl.edu 37 1 32145288 32145288 + Splice_Site SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 32145288 32145288 T C SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known splice_site c.2716-2 e42-2 0.997 - - - no_errors COL16A1 HGNC ENSG00000084636 276 0 0 214 64 23.0216 CSMD2 0 genome.wustl.edu 37 1 34043061 34043061 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 34043061 34043061 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.7411 p.A2471T 0.985 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 82 0 0 92 19 17.1171 MEGF6 0 genome.wustl.edu 37 1 3418428 3418428 + Missense_Mutation SNP G G C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 3418428 3418428 G C SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.2246 p.A749G 0.951 smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 53 0 0 36 10 21.7391 C1orf94 0 genome.wustl.edu 37 1 34663184 34663184 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 34663184 34663184 C T SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known missense c.679 p.R227C 0.000 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 86 0 0 85 19 18.2692 AGO4 0 genome.wustl.edu 37 1 36307280 36307280 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 36307280 36307280 C T SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known missense c.2104 p.P702S 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO4 HGNC ENSG00000134698 143 0 0 149 46 23.5897 AGO1 0 genome.wustl.edu 37 1 36358210 36358210 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 36358210 36358210 C T SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known missense c.262 p.R88C 1.000 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 88 0 0 88 21 19.2661 AGO3 0 genome.wustl.edu 37 1 36432609 36432609 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 36432609 36432609 G A SNP AGO3 ENST00000373191 human ensembl 74_37 +1 known missense c.245 p.R82H 1.000 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO3 HGNC ENSG00000126070 68 0 0 66 21 24.1379 MFSD2A 0 genome.wustl.edu 37 1 40433301 40433301 + Missense_Mutation SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 40433301 40433301 T G SNP MFSD2A ENST00000372809 human ensembl 74_37 +1 known missense c.1052 p.L351R 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD2A HGNC ENSG00000168389 155 0 0 160 40 20 COL9A2 0 genome.wustl.edu 37 1 40766913 40766913 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 40766913 40766913 C T SNP COL9A2 ENST00000372748 human ensembl 74_37 -1 known missense c.2011 p.G671R 1.000 NULL pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 61 0 0 68 14 17.0732 SZT2 0 genome.wustl.edu 37 1 43903494 43903494 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 43903494 43903494 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.6258 p.S2086 0.686 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 150 0 0 146 43 22.7513 B4GALT2 0 genome.wustl.edu 37 1 44447558 44447558 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 44447558 44447558 C T SNP B4GALT2 ENST00000309519 human ensembl 74_37 +1 known missense c.598 p.R200W 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT2 HGNC ENSG00000117411 77 0 0 79 17 17.7083 TMEM53 0 genome.wustl.edu 37 1 45120723 45120723 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 45120723 45120723 G A SNP TMEM53 ENST00000372237 human ensembl 74_37 -1 known silent c.342 p.N114 0.249 pfam_DUF829_TMEM53 pfam_DUF829_TMEM53 - no_errors TMEM53 HGNC ENSG00000126106 44 0 0 56 21 27.2727 HPDL 0 genome.wustl.edu 37 1 45793721 45793721 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 45793721 45793721 G T SNP HPDL ENST00000334815 human ensembl 74_37 +1 known missense c.901 p.G301W 0.999 pirsf_4OHPhenylPyrv_dOase pirsf_4OHPhenylPyrv_dOase - no_errors HPDL HGNC ENSG00000186603 97 0 0 89 33 27.0492 GPX7 0 genome.wustl.edu 37 1 53074041 53074041 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 53074041 53074041 C A SNP GPX7 ENST00000361314 human ensembl 74_37 +1 known missense c.508 p.P170T 1.000 superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7 pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7 - no_errors GPX7 HGNC ENSG00000116157 190 0 0 187 51 21.4286 FAM151A 0 genome.wustl.edu 37 1 55075579 55075579 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 55075579 55075579 C T SNP FAM151A ENST00000302250 human ensembl 74_37 -1 known missense c.1120 p.E374K 0.857 NULL pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 56 0 0 65 23 26.1364 TMEM61 0 genome.wustl.edu 37 1 55457540 55457540 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 55457540 55457540 G A SNP TMEM61 ENST00000371268 human ensembl 74_37 +1 known missense c.397 p.E133K 0.317 NULL NULL - no_errors TMEM61 HGNC ENSG00000143001 168 0 0 163 58 26.2443 NPHP4 0 genome.wustl.edu 37 1 6038351 6038351 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 6038351 6038351 C T SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known silent c.258 p.P86 0.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 16 0 0 30 6 16.6667 JAK1 0 genome.wustl.edu 37 1 65335080 65335080 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 65335080 65335080 G A SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known silent c.561 p.N187 0.166 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain 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 97 0 0 114 38 25 NOL9 0 genome.wustl.edu 37 1 6586028 6586028 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 6586028 6586028 C T SNP NOL9 ENST00000377705 human ensembl 74_37 -1 known silent c.1995 p.T665 0.323 NULL pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors NOL9 HGNC ENSG00000162408 182 0 0 138 59 29.9492 IL12RB2 0 genome.wustl.edu 37 1 67861543 67861543 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 67861543 67861543 C T SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.2360 p.T787M 0.000 NULL pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 294 0 0 301 89 22.8205 SERBP1 0 genome.wustl.edu 37 1 67895978 67895978 + Silent SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 67895978 67895978 A G SNP SERBP1 ENST00000370995 human ensembl 74_37 -1 known silent c.6 p.P2 1.000 NULL pfam_HABP4_PAIRBP1-bd - no_errors SERBP1 HGNC ENSG00000142864 114 0 0 114 35 23.4899 LRRC7 0 genome.wustl.edu 37 1 70504915 70504915 + Silent SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 70504915 70504915 G T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known silent c.3294 p.V1098 0.031 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 96 0 0 156 57 26.7606 CAMTA1 0 genome.wustl.edu 37 1 7725039 7725039 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 7725039 7725039 G A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.2432 p.R811Q 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,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 243 1 0.409836 245 104 29.7994 FUBP1 0 genome.wustl.edu 37 1 78428529 78428529 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 78428529 78428529 T C SNP FUBP1 ENST00000436586 human ensembl 74_37 -1 known missense c.1333 p.M445V 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 136 0 0 154 38 19.7917 RERE 0 genome.wustl.edu 37 1 8420188 8420188 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 8420188 8420188 C T SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.3379 p.A1127T 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 15 0 0 14 3 17.6471 PRKACB 0 genome.wustl.edu 37 1 84650786 84650786 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 84650786 84650786 A G SNP PRKACB ENST00000370685 human ensembl 74_37 +1 known missense c.481 p.N161D 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 61 0 0 132 53 28.6486 ZNHIT6 0 genome.wustl.edu 37 1 86173931 86173931 + Nonsense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 86173931 86173931 C A SNP ZNHIT6 ENST00000370574 human ensembl 74_37 -1 known nonsense c.37 p.G13* 0.026 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT6 HGNC ENSG00000117174 99 0 0 125 32 20.3822 GBP6 0 genome.wustl.edu 37 1 89847424 89847424 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 89847424 89847424 C T SNP GBP6 ENST00000370456 human ensembl 74_37 +1 known missense c.1043 p.T348M 0.838 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 48 0 0 81 28 25.6881 AGRN 0 genome.wustl.edu 37 1 989920 989920 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 989920 989920 C T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.5969 p.A1990V 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 13 0 0 18 4 18.1818 HPS1 0 genome.wustl.edu 37 10 100185361 100185361 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 100185361 100185361 G A SNP HPS1 ENST00000325103 human ensembl 74_37 -1 known silent c.1272 p.L424 0.000 NULL NULL - no_errors HPS1 HGNC ENSG00000107521 24 0 0 35 12 25.5319 DNMBP 0 genome.wustl.edu 37 10 101639896 101639896 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 101639896 101639896 G T SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.4292 p.S1431Y 0.001 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 259 0 0 260 64 19.7531 HPS6 0 genome.wustl.edu 37 10 103826053 103826053 + Silent SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 103826053 103826053 C A SNP HPS6 ENST00000299238 human ensembl 74_37 +1 known silent c.822 p.A274 0.607 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 96 0 0 105 28 21.0526 CELF2 0 genome.wustl.edu 37 10 11363317 11363317 + Missense_Mutation SNP A A C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 11363317 11363317 A C SNP CELF2 ENST00000450189 human ensembl 74_37 +1 known missense c.1262 p.Q421P 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 43 0 0 59 29 32.9545 TDRD1 0 genome.wustl.edu 37 10 115981158 115981158 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 115981158 115981158 T C SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known missense c.2813 p.V938A 0.981 pfam_Tudor pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 61 0 0 101 34 25.1852 GFRA1 0 genome.wustl.edu 37 10 118030602 118030602 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 118030602 118030602 G A SNP GFRA1 ENST00000355422 human ensembl 74_37 -1 known silent c.66 p.S22 1.000 pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 48 0 0 49 10 16.9492 PRDX3 0 genome.wustl.edu 37 10 120928781 120928781 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 120928781 120928781 C T SNP PRDX3 ENST00000298510 human ensembl 74_37 -1 known missense c.625 p.V209M 1.000 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX3 HGNC ENSG00000165672 69 0 0 64 29 31.1828 CPXM2 0 genome.wustl.edu 37 10 125601919 125601919 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 125601919 125601919 C T SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.599 p.R200Q 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_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 CPXM2 HGNC ENSG00000121898 81 0 0 71 18 20.2247 CHST15 0 genome.wustl.edu 37 10 125805706 125805706 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 125805706 125805706 C T SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known missense c.23 p.C8Y 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 83 0 0 84 16 16 LHPP 0 genome.wustl.edu 37 10 126172753 126172753 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 126172753 126172753 G A SNP LHPP ENST00000368842 human ensembl 74_37 +1 known silent c.171 p.S57 0.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors LHPP HGNC ENSG00000107902 57 0 0 56 31 35.6322 C10orf137 0 genome.wustl.edu 37 10 127436239 127436239 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 127436239 127436239 G A SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known silent c.2949 p.P983 0.007 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 73 0 0 74 39 34.5133 ADARB2 0 genome.wustl.edu 37 10 1279635 1279635 + Splice_Site SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 1279635 1279635 C T SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known splice_site c.1513+1 e6+1 1.000 - - - no_errors ADARB2 HGNC ENSG00000185736 191 0 0 166 64 27.8261 FAM196A 0 genome.wustl.edu 37 10 128974523 128974523 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 128974523 128974523 T C SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known missense c.137 p.Q46R 1.000 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 281 0 0 302 90 22.9592 CLRN3 0 genome.wustl.edu 37 10 129676427 129676427 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 129676427 129676427 C T SNP CLRN3 ENST00000368671 human ensembl 74_37 -1 known missense c.667 p.G223R 0.991 NULL NULL - no_errors CLRN3 HGNC ENSG00000180745 144 0 0 127 48 27.4286 KNDC1 0 genome.wustl.edu 37 10 134996942 134996942 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 134996942 134996942 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.455 p.A152V 0.995 superfamily_Kinase-like_dom,smart_KIND pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 17 0 0 14 4 22.2222 KNDC1 0 genome.wustl.edu 37 10 135026413 135026413 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 135026413 135026413 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.4436 p.T1479M 0.992 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,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 49 0 0 44 11 20 CUBN 0 genome.wustl.edu 37 10 16990509 16990509 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 16990509 16990509 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.5177 p.G1726D 1.000 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 38 0 0 46 10 17.8571 MRC1 0 genome.wustl.edu 37 10 18138557 18138557 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 18138557 18138557 T C SNP MRC1 ENST00000239761 human ensembl 74_37 +1 known silent c.1113 p.G371 0.111 pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,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,prints_AntifreezeII - no_errors MRC1 HGNC ENSG00000120586 102 0 0 141 34 19.4286 KIAA1217 0 genome.wustl.edu 37 10 24825761 24825761 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 24825761 24825761 G A SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.3473 p.R1158Q 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 137 0 0 180 62 25.6198 GPR158 0 genome.wustl.edu 37 10 25886723 25886723 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 25886723 25886723 C T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.2168 p.A723V 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 85 0 0 175 48 21.5247 FZD8 0 genome.wustl.edu 37 10 35929020 35929020 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 35929020 35929020 C T SNP FZD8 ENST00000374694 human ensembl 74_37 -1 known nonsense c.1338 p.W446* 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 19 0 0 23 11 32.3529 ZNF248 0 genome.wustl.edu 37 10 38120692 38120692 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 38120692 38120692 C T SNP ZNF248 ENST00000357328 human ensembl 74_37 -1 known missense c.1591 p.E531K 1.000 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 ZNF248 HGNC ENSG00000198105 80 0 0 138 44 24.1758 BMS1 0 genome.wustl.edu 37 10 43292210 43292210 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 43292210 43292210 T C SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known silent c.1518 p.D506 0.999 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 84 0 0 100 32 24.2424 ZNF239 0 genome.wustl.edu 37 10 44052449 44052449 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 44052449 44052449 G A SNP ZNF239 ENST00000306006 human ensembl 74_37 -1 known missense c.1079 p.S360L 0.994 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF239 HGNC ENSG00000196793 67 0 0 113 24 17.5182 GPRIN2 0 genome.wustl.edu 37 10 46999541 46999541 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 46999541 46999541 C T SNP GPRIN2 ENST00000374314 human ensembl 74_37 +1 known silent c.661 p.L221 0.190 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 54 0 0 77 17 18.0851 NPY4R 0 genome.wustl.edu 37 10 47087175 47087175 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 47087175 47087175 C T SNP NPY4R ENST00000374312 human ensembl 74_37 +1 known missense c.392 p.S131L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 286 0 0 320 48 13.0435 RBP3 0 genome.wustl.edu 37 10 48389221 48389221 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 48389221 48389221 C T SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.1657 p.A553T 1.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 86 0 0 68 27 28.4211 GDF2 0 genome.wustl.edu 37 10 48414123 48414123 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 48414123 48414123 T C SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known missense c.745 p.R249G 0.836 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 101 0 0 92 27 22.6891 VSTM4 0 genome.wustl.edu 37 10 50315742 50315742 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 50315742 50315742 C T SNP VSTM4 ENST00000332853 human ensembl 74_37 -1 known silent c.354 p.Q118 0.077 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM4 HGNC ENSG00000165633 96 0 0 90 42 31.8182 AKR1C3 0 genome.wustl.edu 37 10 5144398 5144398 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 5144398 5144398 C T SNP AKR1C3 ENST00000380554 human ensembl 74_37 +1 known nonsense c.676 p.R226* 0.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C3 HGNC ENSG00000196139 114 0 0 104 37 26.2411 FAM208B 0 genome.wustl.edu 37 10 5799586 5799586 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 5799586 5799586 C A SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.6836 p.A2279E 0.036 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 300 1 0.332226 339 119 25.9825 TFAM 0 genome.wustl.edu 37 10 60154714 60154714 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 60154714 60154714 C T SNP TFAM ENST00000487519 human ensembl 74_37 +1 known silent c.621 p.D207 0.998 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TFAM HGNC ENSG00000108064 38 0 0 48 10 17.2414 PHYHIPL 0 genome.wustl.edu 37 10 60994193 60994193 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 60994193 60994193 G A SNP PHYHIPL ENST00000373880 human ensembl 74_37 +1 known missense c.236 p.R79H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIPL HGNC ENSG00000165443 49 0 0 72 17 19.1011 ANK3 0 genome.wustl.edu 37 10 61831926 61831926 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 61831926 61831926 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.8713 p.R2905C 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 ANK3 HGNC ENSG00000151150 53 0 0 82 32 28.0702 EGR2 0 genome.wustl.edu 37 10 64573218 64573218 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 64573218 64573218 C T SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known missense c.1180 p.G394S 0.998 pfscan_Znf_C2H2 pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 234 0 0 245 53 17.7852 EGR2 0 genome.wustl.edu 37 10 64573837 64573837 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 64573837 64573837 C T SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known silent c.561 p.A187 0.031 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 143 0 0 110 39 26.1745 JMJD1C 0 genome.wustl.edu 37 10 64968900 64968900 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 64968900 64968900 T C SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known silent c.2790 p.A930 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 115 0 0 147 58 28.2927 ATOH7 0 genome.wustl.edu 37 10 69991318 69991318 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 69991318 69991318 C T SNP ATOH7 ENST00000373673 human ensembl 74_37 -1 known silent c.117 p.A39 1.000 superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH7 HGNC ENSG00000179774 17 0 0 20 5 20 H2AFY2 0 genome.wustl.edu 37 10 71851564 71851564 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 71851564 71851564 C T SNP H2AFY2 ENST00000373255 human ensembl 74_37 +1 known missense c.331 p.P111S 1.000 superfamily_Histone-fold,smart_Histone_H2A,pirsf_Core_histone_macro-H2A,prints_Histone_H2A pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 94 0 0 73 15 17.0455 ADAMTS14 0 genome.wustl.edu 37 10 72511870 72511870 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 72511870 72511870 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known silent c.2625 p.Y875 0.963 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 36 0 0 42 16 27.5862 ADAMTS14 0 genome.wustl.edu 37 10 72511949 72511949 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 72511949 72511949 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.2704 p.R902W 0.995 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 84 0 0 75 19 20.2128 UNC5B 0 genome.wustl.edu 37 10 73047450 73047450 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 73047450 73047450 G A SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known missense c.829 p.A277T 0.554 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,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 UNC5B HGNC ENSG00000107731 107 0 0 142 8 5.33333 DUPD1 0 genome.wustl.edu 37 10 76803595 76803595 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 76803595 76803595 C T SNP DUPD1 ENST00000338487 human ensembl 74_37 -1 known silent c.381 p.P127 0.002 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUPD1 HGNC ENSG00000188716 124 0 0 119 37 23.7179 MAT1A 0 genome.wustl.edu 37 10 82034359 82034359 + Silent SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 82034359 82034359 G T SNP MAT1A ENST00000372213 human ensembl 74_37 -1 known silent c.1002 p.T334 1.000 pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT1A HGNC ENSG00000151224 140 0 0 134 54 28.7234 MMRN2 0 genome.wustl.edu 37 10 88696544 88696544 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 88696544 88696544 G T SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known missense c.2806 p.L936M 0.005 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 326 1 0.30581 297 89 23.057 RNLS 0 genome.wustl.edu 37 10 90122398 90122398 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 90122398 90122398 G A SNP RNLS ENST00000331772 human ensembl 74_37 -1 known missense c.611 p.T204M 1.000 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 45 0 0 102 33 24.4444 PANK1 0 genome.wustl.edu 37 10 91353042 91353042 + Missense_Mutation SNP G G C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 91353042 91353042 G C SNP PANK1 ENST00000307534 human ensembl 74_37 -1 known missense c.1523 p.S508C 0.998 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 31 0 0 50 25 33.3333 PPP1R3C 0 genome.wustl.edu 37 10 93390388 93390388 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 93390388 93390388 G A SNP PPP1R3C ENST00000238994 human ensembl 74_37 -1 known missense c.250 p.R84C 1.000 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3C HGNC ENSG00000119938 139 0 0 153 59 27.8302 PDE6C 0 genome.wustl.edu 37 10 95381733 95381733 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 95381733 95381733 T C SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known silent c.768 p.D256 0.998 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 100 0 0 141 39 21.6667 BLNK 0 genome.wustl.edu 37 10 97987263 97987263 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 97987263 97987263 G A SNP BLNK ENST00000224337 human ensembl 74_37 -1 known silent c.264 p.A88 0.005 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 153 0 0 154 55 26.3158 AVPI1 0 genome.wustl.edu 37 10 99439596 99439596 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 99439596 99439596 G A SNP AVPI1 ENST00000370626 human ensembl 74_37 -1 known missense c.67 p.R23C 1.000 NULL NULL - no_errors AVPI1 HGNC ENSG00000119986 18 0 0 12 2 14.2857 AP2A2 0 genome.wustl.edu 37 11 1009121 1009121 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 1009121 1009121 C T SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known silent c.2445 p.N815 0.957 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,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_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 21 0 0 21 12 36.3636 MUC6 0 genome.wustl.edu 37 11 1016104 1016104 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 1016104 1016104 C T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.6697 p.V2233M 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 93 0 0 88 27 23.4783 KIAA1377 0 genome.wustl.edu 37 11 101786106 101786106 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 101786106 101786106 C T SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known missense c.91 p.R31W 0.002 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 247 0 0 276 69 20 MUC6 0 genome.wustl.edu 37 11 1025025 1025025 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 1025025 1025025 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.3044 p.T1015M 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,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 38 0 0 41 13 24.0741 MUC2 0 genome.wustl.edu 37 11 1090915 1090915 + Silent SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 1090915 1090915 C A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.3810 p.T1270 0.000 NULL 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 24 0 0 25 9 26.4706 PIH1D2 0 genome.wustl.edu 37 11 111941920 111941920 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 111941920 111941920 T C SNP PIH1D2 ENST00000280350 human ensembl 74_37 -1 known missense c.389 p.Q130R 0.003 pfam_PIH pfam_PIH - no_errors PIH1D2 HGNC ENSG00000150773 276 0 0 305 86 21.9949 APOA4 0 genome.wustl.edu 37 11 116691981 116691981 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 116691981 116691981 G A SNP APOA4 ENST00000357780 human ensembl 74_37 -1 known nonsense c.793 p.Q265* 0.723 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 109 0 0 124 36 22.5 BACE1 0 genome.wustl.edu 37 11 117186283 117186283 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 117186283 117186283 C T SNP BACE1 ENST00000313005 human ensembl 74_37 -1 known missense c.229 p.V77M 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Aspartic_peptidase - no_errors BACE1 HGNC ENSG00000186318 47 0 0 39 7 15.2174 DSCAML1 0 genome.wustl.edu 37 11 117387410 117387410 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 117387410 117387410 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.1735 p.G579R 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_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 53 0 0 50 12 19.3548 DSCAML1 0 genome.wustl.edu 37 11 117651423 117651423 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 117651423 117651423 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.329 p.A110V 0.875 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_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 123 0 0 148 42 22.1053 PHLDB1 0 genome.wustl.edu 37 11 118499199 118499199 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 118499199 118499199 C A SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.1660 p.Q554K 0.984 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 47 0 0 45 7 13.4615 PDZD3 0 genome.wustl.edu 37 11 119058114 119058114 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 119058114 119058114 C T SNP PDZD3 ENST00000392817 human ensembl 74_37 +1 known missense c.664 p.R222W 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC ENSG00000172367 62 0 0 56 14 20 TRIM29 0 genome.wustl.edu 37 11 120008304 120008304 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 120008304 120008304 C T SNP TRIM29 ENST00000341846 human ensembl 74_37 -1 known missense c.436 p.G146R 0.483 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 214 0 0 232 93 28.6154 ARHGEF12 0 genome.wustl.edu 37 11 120350842 120350842 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 120350842 120350842 C T SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.3883 p.P1295S 1.000 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 230 0 0 243 72 22.8571 GRIK4 0 genome.wustl.edu 37 11 120827592 120827592 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 120827592 120827592 G A SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.1804 p.G602R 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 GRIK4 HGNC ENSG00000149403 110 0 0 87 33 27.5 UBASH3B 0 genome.wustl.edu 37 11 122678801 122678801 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 122678801 122678801 G A SNP UBASH3B ENST00000284273 human ensembl 74_37 +1 known missense c.1729 p.A577T 1.000 pfam_His_Pase_superF_clade-1 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 471 0 0 562 175 23.7449 BSX 0 genome.wustl.edu 37 11 122848490 122848490 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 122848490 122848490 C T SNP BSX ENST00000343035 human ensembl 74_37 -1 known missense c.569 p.R190H 0.821 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BSX HGNC ENSG00000188909 60 0 0 46 22 32.3529 NRGN 0 genome.wustl.edu 37 11 124615423 124615423 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 124615423 124615423 G A SNP NRGN ENST00000284292 human ensembl 74_37 +1 known missense c.40 p.D14N 1.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors NRGN HGNC ENSG00000154146 89 0 0 62 13 17.3333 VSIG2 0 genome.wustl.edu 37 11 124618378 124618378 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 124618378 124618378 C T SNP VSIG2 ENST00000326621 human ensembl 74_37 -1 known silent c.759 p.V253 0.386 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG2 HGNC ENSG00000019102 100 0 0 102 32 23.8806 ROBO3 0 genome.wustl.edu 37 11 124738937 124738937 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 124738937 124738937 G A SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.400 p.A134T 0.993 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 12 0 0 14 4 22.2222 NFRKB 0 genome.wustl.edu 37 11 129754773 129754773 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 129754773 129754773 C T SNP NFRKB ENST00000524794 human ensembl 74_37 -1 known silent c.684 p.T228 1.000 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 49 0 0 41 22 34.9206 NCAPD3 0 genome.wustl.edu 37 11 134051038 134051038 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 134051038 134051038 G A SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known silent c.2493 p.C831 0.992 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 24 0 0 38 13 25.4902 GLB1L2 0 genome.wustl.edu 37 11 134212846 134212846 + Splice_Site SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 134212846 134212846 G A SNP GLB1L2 ENST00000339772 human ensembl 74_37 +1 known splice_site c.284+1 e2+1 1.000 - - - no_errors GLB1L2 HGNC ENSG00000149328 97 0 0 65 32 32.9897 CALCA 0 genome.wustl.edu 37 11 14991505 14991505 + Missense_Mutation SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 14991505 14991505 T A SNP CALCA ENST00000331587 human ensembl 74_37 -1 known missense c.203 p.Q68L 0.999 pfam_Procalcitonin/adrenomedullin pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin - no_errors CALCA HGNC ENSG00000110680 138 0 0 132 46 25.8427 SOX6 0 genome.wustl.edu 37 11 16071413 16071413 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 16071413 16071413 C T SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known silent c.1323 p.T441 0.908 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 130 0 0 413 109 20.8812 LDHC 0 genome.wustl.edu 37 11 18436832 18436832 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 18436832 18436832 G T SNP LDHC ENST00000280704 human ensembl 74_37 +1 known missense c.228 p.K76N 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHC HGNC ENSG00000166796 78 0 0 82 21 20.3883 TNNI2 0 genome.wustl.edu 37 11 1862321 1862321 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 1862321 1862321 C T SNP TNNI2 ENST00000252898 human ensembl 74_37 +1 known missense c.337 p.R113W 0.949 pfam_Troponin pfam_Troponin - no_errors TNNI2 HGNC ENSG00000130598 31 0 0 43 11 20.3704 RIC8A 0 genome.wustl.edu 37 11 214277 214277 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 214277 214277 C T SNP RIC8A ENST00000325207 human ensembl 74_37 +1 known missense c.1541 p.T514M 0.817 NULL pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8A HGNC ENSG00000177963 20 0 0 21 6 22.2222 CD81 0 genome.wustl.edu 37 11 2415337 2415337 + Missense_Mutation SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 2415337 2415337 T G SNP CD81 ENST00000263645 human ensembl 74_37 +1 known missense c.194 p.L65R 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD81 HGNC ENSG00000110651 93 0 0 77 25 24.5098 LIN7C 0 genome.wustl.edu 37 11 27520241 27520241 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 27520241 27520241 C T SNP LIN7C ENST00000278193 human ensembl 74_37 -1 known silent c.549 p.S183 0.005 superfamily_PDZ,pirsf_Lin-7_homologue pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7C HGNC ENSG00000148943 184 0 0 217 57 20.8029 KCNQ1 0 genome.wustl.edu 37 11 2798261 2798261 + Silent SNP A A C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 2798261 2798261 A C SNP KCNQ1 ENST00000155840 human ensembl 74_37 +1 known silent c.1731 p.S577 1.000 pfam_K_chnl_volt-dep_KCNQ_C,prints_K_chnl_volt-dep_KCQN1 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC ENSG00000053918 49 0 0 33 13 28.2609 DCDC1 0 genome.wustl.edu 37 11 31086113 31086113 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 31086113 31086113 G T SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.2494 p.H832N 0.542 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 76 0 0 193 61 24.0157 ELP4 0 genome.wustl.edu 37 11 31625347 31625347 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 31625347 31625347 C T SNP ELP4 ENST00000395934 human ensembl 74_37 +1 known silent c.546 p.H182 1.000 pfam_Elongator_complex_protein_4 pfam_Elongator_complex_protein_4,superfamily_P-loop_NTPase - no_errors ELP4 HGNC ENSG00000109911 61 0 0 105 28 21.0526 MRGPRE 0 genome.wustl.edu 37 11 3249839 3249839 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 3249839 3249839 T C SNP MRGPRE ENST00000389832 human ensembl 74_37 -1 known missense c.191 p.D64G 0.991 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRE HGNC ENSG00000184350 147 0 0 141 38 21.2291 PKP3 0 genome.wustl.edu 37 11 400008 400008 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 400008 400008 C T SNP PKP3 ENST00000331563 human ensembl 74_37 +1 known missense c.1315 p.R439C 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 27 0 0 21 3 12.5 CHRM4 0 genome.wustl.edu 37 11 46407572 46407572 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 46407572 46407572 G A SNP CHRM4 ENST00000433765 human ensembl 74_37 -1 known missense c.536 p.T179M 0.970 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 21 0 0 20 12 37.5 MTCH2 0 genome.wustl.edu 37 11 47640459 47640459 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 47640459 47640459 G A SNP MTCH2 ENST00000302503 human ensembl 74_37 -1 known nonsense c.838 p.R280* 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH2 HGNC ENSG00000109919 107 0 0 128 38 22.8916 AGBL2 0 genome.wustl.edu 37 11 47732033 47732033 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 47732033 47732033 G A SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known missense c.128 p.T43M 0.062 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 147 0 0 159 32 16.7539 OR4X1 0 genome.wustl.edu 37 11 48286188 48286188 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 48286188 48286188 C A SNP OR4X1 ENST00000320048 human ensembl 74_37 +1 known missense c.776 p.P259H 0.986 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X1 HGNC ENSG00000176567 115 1 0.862069 246 54 18 OR51I1 0 genome.wustl.edu 37 11 5461995 5461995 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 5461995 5461995 C T SNP OR51I1 ENST00000380211 human ensembl 74_37 -1 known silent c.750 p.V250 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I1 HGNC ENSG00000167359 29 0 0 65 21 24.4186 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 32 0 0 108 11 9.2437 OR5R1 0 genome.wustl.edu 37 11 56184864 56184864 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 56184864 56184864 A G SNP OR5R1 ENST00000312253 human ensembl 74_37 -1 known missense c.845 p.I282T 0.978 pfam_GPCR_Rhodpsn,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 OR5R1 HGNC ENSG00000174942 104 0 0 162 63 28 TNKS1BP1 0 genome.wustl.edu 37 11 57088081 57088081 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 57088081 57088081 G T SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.200 p.P67H 0.868 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 46 0 0 44 18 29.0323 SLC43A1 0 genome.wustl.edu 37 11 57263584 57263584 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 57263584 57263584 G A SNP SLC43A1 ENST00000278426 human ensembl 74_37 -1 known silent c.612 p.G204 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A1 HGNC ENSG00000149150 46 0 0 64 22 25.5814 ZDHHC5 0 genome.wustl.edu 37 11 57460087 57460087 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 57460087 57460087 C T SNP ZDHHC5 ENST00000287169 human ensembl 74_37 +1 known missense c.665 p.T222M 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 50 0 0 61 21 25.6098 OR10Q1 0 genome.wustl.edu 37 11 57995632 57995632 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 57995632 57995632 C T SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known missense c.716 p.R239H 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 65 0 0 85 22 20.5607 OR10Q1 0 genome.wustl.edu 37 11 57996170 57996170 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 57996170 57996170 G A SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known missense c.178 p.R60C 0.046 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 107 0 0 118 39 24.8408 OR52E8 0 genome.wustl.edu 37 11 5878912 5878912 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 5878912 5878912 C T SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known silent c.21 p.T7 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E8 HGNC ENSG00000183269 20 0 0 109 29 21.0145 ASRGL1 0 genome.wustl.edu 37 11 62156702 62156702 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 62156702 62156702 G A SNP ASRGL1 ENST00000301776 human ensembl 74_37 +1 known missense c.589 p.V197I 0.997 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors ASRGL1 HGNC ENSG00000162174 115 0 0 131 34 20.6061 AHNAK 0 genome.wustl.edu 37 11 62284598 62284598 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 62284598 62284598 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.17291 p.P5764L 0.906 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 90 0 0 116 51 30.5389 SNHG1 0 genome.wustl.edu 37 11 62622615 62622615 + RNA SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 62622615 62622615 A G SNP SNHG1 ENST00000537068 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNHG1 HGNC ENSG00000255717 67 0 0 81 30 27.027 ATL3 0 genome.wustl.edu 37 11 63414021 63414021 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 63414021 63414021 G A SNP ATL3 ENST00000332645 human ensembl 74_37 -1 known silent c.657 p.Y219 1.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors ATL3 HGNC ENSG00000184743 71 0 0 79 15 15.9574 C11orf84 0 genome.wustl.edu 37 11 63585406 63585406 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 63585406 63585406 G A SNP C11orf84 ENST00000294244 human ensembl 74_37 +1 known missense c.257 p.S86N 0.998 NULL NULL - no_errors C11orf84 HGNC ENSG00000168005 36 0 0 43 19 30.6452 NRXN2 0 genome.wustl.edu 37 11 64434840 64434840 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 64434840 64434840 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known silent c.1680 p.D560 0.180 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 177 0 0 182 49 21.2121 PPP2R5B 0 genome.wustl.edu 37 11 64697985 64697985 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 64697985 64697985 C T SNP PPP2R5B ENST00000164133 human ensembl 74_37 +1 known missense c.815 p.T272M 0.992 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 119 0 0 117 29 19.863 TRIM3 0 genome.wustl.edu 37 11 6477697 6477697 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 6477697 6477697 C T SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known missense c.1259 p.R420H 0.925 superfamily_Ig_E-set,smart_Filamin pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 32 0 0 34 17 33.3333 SLC25A45 0 genome.wustl.edu 37 11 65144509 65144509 + Silent SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 65144509 65144509 C A SNP SLC25A45 ENST00000398802 human ensembl 74_37 -1 known silent c.378 p.R126 0.930 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A45 HGNC ENSG00000162241 66 0 0 55 17 23.6111 MAP3K11 0 genome.wustl.edu 37 11 65365885 65365885 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 65365885 65365885 C T SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known silent c.2421 p.P807 0.397 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 63 0 0 54 23 29.8701 PCNXL3 0 genome.wustl.edu 37 11 65390989 65390989 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 65390989 65390989 C T SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known silent c.2385 p.F795 0.718 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 41 0 0 58 18 23.6842 CTSF 0 genome.wustl.edu 37 11 66331420 66331420 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 66331420 66331420 G A SNP CTSF ENST00000310325 human ensembl 74_37 -1 known missense c.1439 p.S480L 0.992 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSF HGNC ENSG00000174080 53 0 0 35 26 42.623 RBM14 0 genome.wustl.edu 37 11 66392099 66392099 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 66392099 66392099 C T SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known missense c.752 p.A251V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 120 0 0 167 21 11.1702 ANKRD13D 0 genome.wustl.edu 37 11 67068991 67068991 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 67068991 67068991 G A SNP ANKRD13D ENST00000511455 human ensembl 74_37 +1 known missense c.1381 p.V461M 0.998 pfam_ANKRD13 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 92 0 0 86 20 18.8679 PITPNM1 0 genome.wustl.edu 37 11 67267162 67267162 + RNA SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 67267162 67267162 C T SNP PITPNM1 ENST00000525521 human ensembl 74_37 -1 putative rna NULL NULL 0.077 - - - no_errors PITPNM1 HGNC ENSG00000110697 45 0 0 34 18 34.6154 NDUFV1 0 genome.wustl.edu 37 11 67379380 67379380 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 67379380 67379380 A G SNP NDUFV1 ENST00000322776 human ensembl 74_37 +1 known missense c.1093 p.K365E 1.000 pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC ENSG00000167792 80 0 0 65 20 23.5294 ANO1 0 genome.wustl.edu 37 11 70009435 70009435 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 70009435 70009435 C T SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known nonsense c.1939 p.R647* 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 47 0 0 29 8 21.6216 INPPL1 0 genome.wustl.edu 37 11 71939254 71939254 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 71939254 71939254 C T SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known missense c.203 p.T68M 1.000 pfam_SH2,smart_SH2,pfscan_SH2 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 118 0 0 111 36 24.4898 PDE2A 0 genome.wustl.edu 37 11 72295930 72295930 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 72295930 72295930 C T SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known missense c.1345 p.V449M 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 115 0 0 93 37 28.4615 CHRDL2 0 genome.wustl.edu 37 11 74441890 74441890 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 74441890 74441890 G A SNP CHRDL2 ENST00000263671 human ensembl 74_37 -1 known missense c.44 p.A15V 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL2 HGNC ENSG00000054938 21 0 0 25 3 10.7143 MAP6 0 genome.wustl.edu 37 11 75379314 75379314 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 75379314 75379314 G A SNP MAP6 ENST00000304771 human ensembl 74_37 -1 known missense c.101 p.S34L 1.000 pfam_MAP6/FAM154 pfam_MAP6/FAM154 - no_errors MAP6 HGNC ENSG00000171533 37 0 0 31 9 22.5 GDPD4 0 genome.wustl.edu 37 11 76996214 76996214 + RNA SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 76996214 76996214 G A SNP GDPD4 ENST00000527489 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GDPD4 HGNC ENSG00000178795 45 0 0 38 16 29.6296 USP35 0 genome.wustl.edu 37 11 77921181 77921181 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 77921181 77921181 C T SNP USP35 ENST00000529308 human ensembl 74_37 +1 known silent c.2280 p.S760 0.003 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 80 0 0 101 32 24.0602 CEND1 0 genome.wustl.edu 37 11 788202 788202 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 788202 788202 C T SNP CEND1 ENST00000330106 human ensembl 74_37 -1 known silent c.375 p.L125 0.999 NULL NULL - no_errors CEND1 HGNC ENSG00000184524 20 0 0 17 7 29.1667 LMO1 0 genome.wustl.edu 37 11 8248584 8248584 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 8248584 8248584 C T SNP LMO1 ENST00000335790 human ensembl 74_37 -1 known silent c.303 p.V101 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO1 HGNC ENSG00000166407 56 0 0 46 22 32.3529 PCF11 0 genome.wustl.edu 37 11 82877374 82877374 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 82877374 82877374 C T SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known nonsense c.1435 p.R479* 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 31 0 0 39 19 32.7586 DLG2 0 genome.wustl.edu 37 11 83770433 83770433 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 83770433 83770433 C T SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.844 p.V282I 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 46 0 0 98 51 34.2282 GRM5 0 genome.wustl.edu 37 11 88780735 88780735 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 88780735 88780735 C T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known silent c.306 p.S102 0.001 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 41 0 0 47 19 28.7879 FAT3 0 genome.wustl.edu 37 11 92533495 92533495 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 92533495 92533495 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.7316 p.R2439Q 0.994 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 48 0 0 101 30 22.9008 CCDC82 0 genome.wustl.edu 37 11 96117864 96117864 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 96117864 96117864 G A SNP CCDC82 ENST00000278520 human ensembl 74_37 -1 known silent c.48 p.H16 0.617 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 55 0 0 60 23 27.7108 SWAP70 0 genome.wustl.edu 37 11 9746422 9746422 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 9746422 9746422 T C SNP SWAP70 ENST00000318950 human ensembl 74_37 +1 known missense c.632 p.V211A 0.997 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology - no_errors SWAP70 HGNC ENSG00000133789 95 0 0 104 41 28.2759 ARL1 0 genome.wustl.edu 37 12 101801503 101801503 + RNA SNP A A C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 101801503 101801503 A C SNP ARL1 ENST00000549283 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARL1 HGNC ENSG00000120805 122 1 0.813008 132 57 30.1587 RAD52 0 genome.wustl.edu 37 12 1025667 1025667 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 1025667 1025667 G A SNP RAD52 ENST00000536177 human ensembl 74_37 -1 novel missense c.760 p.R254C 0.000 NULL pfam_Rad52_Rad22,tigrfam_DNA_recomb/repair_Rad52 - no_errors RAD52 HGNC ENSG00000002016 20 0 0 18 11 37.931 TXNRD1 0 genome.wustl.edu 37 12 104705167 104705167 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 104705167 104705167 T C SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known missense c.514 p.S172P 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 39 0 0 34 9 20.9302 ALDH1L2 0 genome.wustl.edu 37 12 105464436 105464436 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 105464436 105464436 T C SNP ALDH1L2 ENST00000258494 human ensembl 74_37 -1 known missense c.340 p.M114V 1.000 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 87 0 0 95 37 28.0303 CKAP4 0 genome.wustl.edu 37 12 106633328 106633328 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 106633328 106633328 G A SNP CKAP4 ENST00000378026 human ensembl 74_37 -1 known missense c.1283 p.A428V 0.000 superfamily_Tscrpt_elong_fac_GreA/B_N superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 114 0 0 94 38 28.7879 CKAP4 0 genome.wustl.edu 37 12 106633635 106633635 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 106633635 106633635 G A SNP CKAP4 ENST00000378026 human ensembl 74_37 -1 known missense c.976 p.R326C 1.000 NULL superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 62 0 0 62 23 27.0588 TAS2R9 0 genome.wustl.edu 37 12 10962116 10962116 + Missense_Mutation SNP C C G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 10962116 10962116 C G SNP TAS2R9 ENST00000240691 human ensembl 74_37 -1 known missense c.559 p.V187L 0.001 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R9 HGNC ENSG00000121381 26 0 0 98 24 19.6721 MYO1H 0 genome.wustl.edu 37 12 109876365 109876365 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 109876365 109876365 G A SNP MYO1H ENST00000431443 human ensembl 74_37 +1 known missense c.2216 p.R739H 1.000 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 29 0 0 31 14 31.1111 PRH2 0 genome.wustl.edu 37 12 11083297 11083297 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 11083297 11083297 G A SNP PRH2 ENST00000381847 human ensembl 74_37 +1 known missense c.137 p.R46H 0.000 NULL NULL - no_errors PRH2 HGNC ENSG00000134551 143 0 0 165 28 14.5078 CUX2 0 genome.wustl.edu 37 12 111779614 111779614 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 111779614 111779614 G A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.3416 p.S1139N 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 198 0 0 162 47 22.488 BRAP 0 genome.wustl.edu 37 12 112121078 112121078 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 112121078 112121078 G A SNP BRAP ENST00000419234 human ensembl 74_37 -1 known missense c.116 p.T39M 1.000 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 244 0 0 217 84 27.907 ACAD10 0 genome.wustl.edu 37 12 112182668 112182668 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 112182668 112182668 C T SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known missense c.2029 p.H677Y 0.001 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 80 0 0 79 24 23.301 ALDH2 0 genome.wustl.edu 37 12 112221101 112221101 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 112221101 112221101 C T SNP ALDH2 ENST00000261733 human ensembl 74_37 +1 known missense c.359 p.A120V 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 86 0 0 109 23 17.4242 IQCD 0 genome.wustl.edu 37 12 113633445 113633445 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 113633445 113633445 C A SNP IQCD ENST00000416617 human ensembl 74_37 -1 known missense c.1285 p.G429C 0.986 pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCD HGNC ENSG00000166578 177 0 0 218 13 5.62771 PLBD2 0 genome.wustl.edu 37 12 113821994 113821994 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 113821994 113821994 C T SNP PLBD2 ENST00000280800 human ensembl 74_37 +1 known missense c.1042 p.R348C 0.993 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 58 0 0 56 16 22.2222 TAOK3 0 genome.wustl.edu 37 12 118636867 118636867 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 118636867 118636867 C T SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known missense c.1183 p.V395M 0.644 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 TAOK3 HGNC ENSG00000135090 138 0 0 125 27 17.7632 SUDS3 0 genome.wustl.edu 37 12 118852224 118852224 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 118852224 118852224 C T SNP SUDS3 ENST00000397564 human ensembl 74_37 +1 known missense c.976 p.R326C 1.000 NULL pfam_Sds3 - no_errors SUDS3 HGNC ENSG00000111707 11 0 0 12 7 36.8421 CIT 0 genome.wustl.edu 37 12 120128233 120128233 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 120128233 120128233 G A SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.5783 p.T1928M 0.935 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,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,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 23 0 0 21 11 34.375 GCN1L1 0 genome.wustl.edu 37 12 120591043 120591043 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 120591043 120591043 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.4036 p.A1346T 0.974 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 76 0 0 69 17 19.7674 CCDC62 0 genome.wustl.edu 37 12 123286259 123286259 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 123286259 123286259 A G SNP CCDC62 ENST00000253079 human ensembl 74_37 +1 known missense c.1566 p.I522M 0.000 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 218 0 0 240 83 25.6966 C12orf65 0 genome.wustl.edu 37 12 123741554 123741554 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 123741554 123741554 G T SNP C12orf65 ENST00000253233 human ensembl 74_37 +1 known missense c.477 p.W159C 0.852 NULL pfam_Pep_chain_release_fac_I_II - no_errors C12orf65 HGNC ENSG00000130921 57 0 0 38 11 22.449 DDX55 0 genome.wustl.edu 37 12 124102324 124102324 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 124102324 124102324 G A SNP DDX55 ENST00000238146 human ensembl 74_37 +1 known missense c.1069 p.G357S 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,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 DDX55 HGNC ENSG00000111364 131 0 0 123 27 18 NCOR2 0 genome.wustl.edu 37 12 124812140 124812140 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 124812140 124812140 G A SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.7019 p.A2340V 0.998 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 26 0 0 42 8 16 SCARB1 0 genome.wustl.edu 37 12 125292364 125292364 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 125292364 125292364 C T SNP SCARB1 ENST00000415380 human ensembl 74_37 -1 known missense c.952 p.E318K 1.000 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 90 0 0 68 28 29.1667 BRI3BP 0 genome.wustl.edu 37 12 125509930 125509930 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 125509930 125509930 G A SNP BRI3BP ENST00000341446 human ensembl 74_37 +1 known missense c.710 p.R237H 1.000 NULL NULL - no_errors BRI3BP HGNC ENSG00000184992 28 0 0 27 7 20.5882 TMEM132B 0 genome.wustl.edu 37 12 126137090 126137090 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 126137090 126137090 T C SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.2003 p.M668T 0.963 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 80 0 0 84 24 22.2222 GLT1D1 0 genome.wustl.edu 37 12 129383782 129383782 + Missense_Mutation SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 129383782 129383782 T G SNP GLT1D1 ENST00000442111 human ensembl 74_37 +1 known missense c.325 p.F109V 0.929 NULL pfam_Glyco_trans_1 - no_errors GLT1D1 HGNC ENSG00000151948 180 0 0 160 48 23.0769 TMEM132D 0 genome.wustl.edu 37 12 130184752 130184752 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 130184752 130184752 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known silent c.571 p.L191 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 40 0 0 45 16 26.2295 GPR133 0 genome.wustl.edu 37 12 131569208 131569208 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 131569208 131569208 G T SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.1671 p.E557D 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 49 0 0 66 4 5.71429 ULK1 0 genome.wustl.edu 37 12 132394519 132394519 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 132394519 132394519 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.781 p.R261C 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_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,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 ULK1 HGNC ENSG00000177169 37 0 0 54 11 16.9231 P2RX2 0 genome.wustl.edu 37 12 133195509 133195509 + Splice_Site SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 133195509 133195509 T C SNP P2RX2 ENST00000352418 human ensembl 74_37 +1 known splice_site c.105+2 e1+2 1.000 - - - no_errors P2RX2 HGNC ENSG00000187848 42 0 0 39 14 26.4151 POLE 0 genome.wustl.edu 37 12 133257271 133257271 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 133257271 133257271 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.207 p.T69 0.055 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 107 0 0 94 29 23.5772 WBP11 0 genome.wustl.edu 37 12 14940008 14940008 + Silent SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 14940008 14940008 C A SNP WBP11 ENST00000261167 human ensembl 74_37 -1 known silent c.1917 p.G639 0.997 NULL pfam_WW_dom-bd_prot_11 - no_errors WBP11 HGNC ENSG00000084463 50 0 0 53 11 17.1875 TMTC1 0 genome.wustl.edu 37 12 29904657 29904657 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 29904657 29904657 G A SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known missense c.556 p.P186S 0.139 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 69 0 0 70 29 29.2929 PARP11 0 genome.wustl.edu 37 12 3939057 3939057 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 3939057 3939057 T C SNP PARP11 ENST00000228820 human ensembl 74_37 -1 known missense c.146 p.Q49R 1.000 pfam_WWE-dom,pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP11 HGNC ENSG00000111224 92 0 0 95 21 18.1034 SCAF11 0 genome.wustl.edu 37 12 46322094 46322094 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 46322094 46322094 A G SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.1390 p.Y464H 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 84 0 0 116 40 25.641 HDAC7 0 genome.wustl.edu 37 12 48192418 48192418 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 48192418 48192418 C T SNP HDAC7 ENST00000425451 human ensembl 74_37 -1 known missense c.37 p.D13N 0.028 NULL NULL - no_errors HDAC7 HGNC ENSG00000061273 41 0 0 43 9 17.3077 DDX23 0 genome.wustl.edu 37 12 49237796 49237796 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 49237796 49237796 G A SNP DDX23 ENST00000308025 human ensembl 74_37 -1 known missense c.247 p.R83W 0.756 NULL 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 DDX23 HGNC ENSG00000174243 415 1 0.240385 363 119 24.6888 CSRNP2 0 genome.wustl.edu 37 12 51458168 51458168 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 51458168 51458168 C A SNP CSRNP2 ENST00000228515 human ensembl 74_37 -1 known missense c.993 p.E331D 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP2 HGNC ENSG00000110925 167 0 0 168 59 25.9912 KRT5 0 genome.wustl.edu 37 12 52913894 52913894 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 52913894 52913894 G A SNP KRT5 ENST00000252242 human ensembl 74_37 -1 known missense c.187 p.R63W 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC ENSG00000186081 86 0 0 89 21 19.0909 TARBP2 0 genome.wustl.edu 37 12 53899445 53899445 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 53899445 53899445 C T SNP TARBP2 ENST00000266987 human ensembl 74_37 +1 known missense c.754 p.R252C 1.000 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors TARBP2 HGNC ENSG00000139546 316 0 0 335 93 21.729 HOXC9 0 genome.wustl.edu 37 12 54396222 54396222 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 54396222 54396222 G A SNP HOXC9 ENST00000303450 human ensembl 74_37 +1 known missense c.547 p.V183M 1.000 superfamily_Homeodomain-like,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC9 HGNC ENSG00000180806 161 0 0 155 49 24.0196 NCKAP1L 0 genome.wustl.edu 37 12 54925281 54925281 + Missense_Mutation SNP G G C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 54925281 54925281 G C SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known missense c.2611 p.V871L 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 144 0 0 218 78 26.3514 OR6C1 0 genome.wustl.edu 37 12 55714547 55714547 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 55714547 55714547 C T SNP OR6C1 ENST00000379668 human ensembl 74_37 +1 known missense c.164 p.T55I 0.927 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C1 HGNC ENSG00000205330 39 0 0 99 22 18.1818 SMARCC2 0 genome.wustl.edu 37 12 56575376 56575376 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 56575376 56575376 G A SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known silent c.846 p.N282 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 174 0 0 174 43 19.8157 TIMELESS 0 genome.wustl.edu 37 12 56814799 56814799 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 56814799 56814799 C A SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known missense c.2988 p.Q996H 0.711 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 168 0 0 174 51 22.6667 LRP1 0 genome.wustl.edu 37 12 57574480 57574480 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 57574480 57574480 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.5417 p.S1806L 0.997 smart_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 79 0 0 91 25 21.5517 ARHGEF25 0 genome.wustl.edu 37 12 58005683 58005683 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 58005683 58005683 G A SNP ARHGEF25 ENST00000286494 human ensembl 74_37 +1 known silent c.6 p.R2 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 25 0 0 20 5 20 PLEKHG6 0 genome.wustl.edu 37 12 6425053 6425053 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 6425053 6425053 C T SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known silent c.574 p.L192 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 9 0 0 7 4 36.3636 C12orf66 0 genome.wustl.edu 37 12 64615816 64615816 + Missense_Mutation SNP A A C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 64615816 64615816 A C SNP C12orf66 ENST00000398055 human ensembl 74_37 -1 known missense c.202 p.Y68D 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 30 0 0 23 8 25.8065 LEMD3 0 genome.wustl.edu 37 12 65639549 65639549 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 65639549 65639549 C T SNP LEMD3 ENST00000308330 human ensembl 74_37 +1 known missense c.2488 p.R830C 0.998 NULL pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD3 HGNC ENSG00000174106 106 0 0 123 39 24.0741 CAPS2 0 genome.wustl.edu 37 12 75692742 75692742 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 75692742 75692742 C T SNP CAPS2 ENST00000409445 human ensembl 74_37 -1 known missense c.916 p.G306R 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS2 HGNC ENSG00000180881 58 0 0 55 15 21.4286 CEP290 0 genome.wustl.edu 37 12 88477714 88477714 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 88477714 88477714 C T SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known silent c.4728 p.V1576 0.934 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 16 0 0 17 6 26.087 M6PR 0 genome.wustl.edu 37 12 9094486 9094486 + Silent SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 9094486 9094486 T A SNP M6PR ENST00000000412 human ensembl 74_37 -1 known silent c.762 p.A254 0.011 NULL superfamily_Man6P_isomerase_rcpt-bd_dom,prints_Man_6_P_rcpt - no_errors M6PR HGNC ENSG00000003056 75 0 0 100 30 23.0769 PZP 0 genome.wustl.edu 37 12 9349220 9349220 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 9349220 9349220 G A SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.929 p.T310M 0.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 138 0 0 138 46 25 CCDC41 0 genome.wustl.edu 37 12 94794825 94794825 + RNA SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 94794825 94794825 A G SNP CCDC41 ENST00000551250 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC41 HGNC ENSG00000173588 29 0 0 40 14 25.9259 CDK17 0 genome.wustl.edu 37 12 96692660 96692660 + Silent SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 96692660 96692660 T G SNP CDK17 ENST00000261211 human ensembl 74_37 -1 known silent c.702 p.T234 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 CDK17 HGNC ENSG00000059758 156 0 0 140 42 23.0769 SLC9A7P1 0 genome.wustl.edu 37 12 98849769 98849769 + RNA SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 98849769 98849769 G A SNP SLC9A7P1 ENST00000554295 human ensembl 74_37 -1 putative rna NULL NULL 0.993 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 115 0 0 93 41 30.597 NALCN 0 genome.wustl.edu 37 13 101720335 101720335 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 101720335 101720335 G A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.4381 p.L1461F 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 99 0 0 81 25 23.5849 COL4A2 0 genome.wustl.edu 37 13 111077160 111077160 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 111077160 111077160 A G SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known missense c.260 p.K87R 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 157 0 0 154 42 21.4286 LAMP1 0 genome.wustl.edu 37 13 113974719 113974719 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 113974719 113974719 C T SNP LAMP1 ENST00000332556 human ensembl 74_37 +1 known silent c.810 p.G270 0.000 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP1 HGNC ENSG00000185896 238 0 0 227 41 15.2985 GAS6 0 genome.wustl.edu 37 13 114535710 114535710 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 114535710 114535710 C T SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known missense c.979 p.V327M 0.916 superfamily_ConA-like_lec_gl_sf 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 86 0 0 82 25 23.3645 SACS 0 genome.wustl.edu 37 13 23910866 23910866 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 23910866 23910866 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.7149 p.R2383 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 36 0 0 69 20 22.4719 ATP12A 0 genome.wustl.edu 37 13 25262530 25262530 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 25262530 25262530 C T SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.302 p.T101M 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC 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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 699 0 0 608 204 25.1232 ATP12A 0 genome.wustl.edu 37 13 25266681 25266681 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 25266681 25266681 A G SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.1201 p.T401A 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase 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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 75 0 0 77 28 26.6667 CENPJ 0 genome.wustl.edu 37 13 25478079 25478079 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 25478079 25478079 G A SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known missense c.2810 p.A937V 0.994 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 214 0 0 231 61 20.8904 RASL11A 0 genome.wustl.edu 37 13 27845850 27845850 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 27845850 27845850 G A SNP RASL11A ENST00000241463 human ensembl 74_37 +1 known missense c.256 p.V86I 0.035 pfam_Small_GTPase,pfam_MIRO-like,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 pfam_Small_GTPase,pfam_MIRO-like,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 RASL11A HGNC ENSG00000122035 109 0 0 110 36 24.6575 UBL3 0 genome.wustl.edu 37 13 30341433 30341433 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 30341433 30341433 G A SNP UBL3 ENST00000380680 human ensembl 74_37 -1 known missense c.313 p.R105C 1.000 pirsf_M-anchored_Ub-fold_HCG-1 pirsf_M-anchored_Ub-fold_HCG-1,pfscan_Ubiquitin_supergroup - no_errors UBL3 HGNC ENSG00000122042 40 0 0 93 29 23.7705 STARD13 0 genome.wustl.edu 37 13 33685010 33685010 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 33685010 33685010 G A SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.2642 p.S881L 0.990 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 81 0 0 75 30 28.5714 SLC25A15 0 genome.wustl.edu 37 13 41381560 41381560 + Silent SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 41381560 41381560 C A SNP SLC25A15 ENST00000338625 human ensembl 74_37 +1 known silent c.583 p.R195 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 - no_errors SLC25A15 HGNC ENSG00000102743 197 1 0.505051 183 65 26.2097 ZC3H13 0 genome.wustl.edu 37 13 46541933 46541933 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 46541933 46541933 G A SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known nonsense c.4027 p.R1343* 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 8 0 0 45 11 19.6429 RPS4XP16 0 genome.wustl.edu 37 13 52035095 52035095 + RNA SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 52035095 52035095 G A SNP RPS4XP16 ENST00000595905 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPS4XP16 HGNC ENSG00000224892 25 0 0 32 6 15.7895 CCDC70 0 genome.wustl.edu 37 13 52439918 52439918 + Missense_Mutation SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 52439918 52439918 T G SNP CCDC70 ENST00000242819 human ensembl 74_37 +1 known missense c.404 p.F135C 0.003 NULL NULL - no_errors CCDC70 HGNC ENSG00000123171 311 0 0 355 76 17.6334 UTP14C 0 genome.wustl.edu 37 13 52603136 52603136 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 52603136 52603136 G T SNP UTP14C ENST00000521776 human ensembl 74_37 +1 known missense c.196 p.A66S 0.999 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 330 1 0.302115 378 106 21.9008 SLITRK1 0 genome.wustl.edu 37 13 84455202 84455202 + Silent SNP C C G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 84455202 84455202 C G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known silent c.441 p.P147 0.998 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 180 0 0 155 41 20.9184 UGGT2 0 genome.wustl.edu 37 13 96536762 96536762 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 96536762 96536762 T C SNP UGGT2 ENST00000376747 human ensembl 74_37 -1 known missense c.3211 p.N1071D 1.000 pfam_UDP-g_GGtrans pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 63 0 0 92 47 33.8129 EML1 0 genome.wustl.edu 37 14 100405583 100405583 + Silent SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 100405583 100405583 G T SNP EML1 ENST00000334192 human ensembl 74_37 +1 known silent c.2298 p.R766 1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 89 0 0 95 32 25.1969 CDC42BPB 0 genome.wustl.edu 37 14 103435030 103435030 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 103435030 103435030 C T SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known silent c.2019 p.A673 0.002 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,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,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 182 0 0 162 60 27.027 JAG2 0 genome.wustl.edu 37 14 105634420 105634420 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 105634420 105634420 C T SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.91 p.E31K 1.000 pfam_Notch_ligand_N 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,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 21 0 0 20 14 41.1765 OR4Q3 0 genome.wustl.edu 37 14 20216082 20216082 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 20216082 20216082 C A SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known missense c.496 p.Q166K 0.020 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4Q3 HGNC ENSG00000182652 36 0 0 155 18 10.4046 C14orf93 0 genome.wustl.edu 37 14 23467754 23467754 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 23467754 23467754 C T SNP C14orf93 ENST00000299088 human ensembl 74_37 -1 known missense c.479 p.R160Q 1.000 NULL NULL - no_errors C14orf93 HGNC ENSG00000100802 24 0 0 45 8 15.0943 HOMEZ 0 genome.wustl.edu 37 14 23745515 23745515 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 23745515 23745515 G A SNP HOMEZ ENST00000431326 human ensembl 74_37 -1 known missense c.928 p.P310S 0.638 NULL superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 46 0 0 61 24 28.2353 MYH7 0 genome.wustl.edu 37 14 23898213 23898213 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 23898213 23898213 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.1358 p.R453H 0.996 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,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 119 0 0 102 27 20.9302 LRRC16B 0 genome.wustl.edu 37 14 24523631 24523631 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 24523631 24523631 G T SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.273 p.M91I 0.974 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 117 0 0 93 29 23.7705 NOVA1 0 genome.wustl.edu 37 14 26917185 26917185 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 26917185 26917185 T C SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known missense c.1504 p.N502D 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 76 0 0 80 29 26.6055 MIPOL1 0 genome.wustl.edu 37 14 37838737 37838737 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 37838737 37838737 C T SNP MIPOL1 ENST00000327441 human ensembl 74_37 +1 known nonsense c.844 p.Q282* 1.000 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 55 0 0 87 29 25 L2HGDH 0 genome.wustl.edu 37 14 50734531 50734531 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 50734531 50734531 C T SNP L2HGDH ENST00000267436 human ensembl 74_37 -1 known missense c.1004 p.R335Q 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors L2HGDH HGNC ENSG00000087299 142 0 0 137 34 19.883 SYNE2 0 genome.wustl.edu 37 14 64653220 64653220 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 64653220 64653220 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.17635 p.V5879I 0.624 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 274 0 0 263 81 23.5465 PLEK2 0 genome.wustl.edu 37 14 67862233 67862233 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 67862233 67862233 C T SNP PLEK2 ENST00000216446 human ensembl 74_37 -1 known missense c.275 p.R92Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK2 HGNC ENSG00000100558 215 0 0 194 66 25.3846 SIPA1L1 0 genome.wustl.edu 37 14 72056033 72056033 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 72056033 72056033 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.1444 p.V482M 0.990 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 28 0 0 68 28 29.1667 LTBP2 0 genome.wustl.edu 37 14 75078312 75078312 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 75078312 75078312 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.336 p.S112 0.396 NULL 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 17 0 0 19 4 17.3913 TTLL5 0 genome.wustl.edu 37 14 76219283 76219283 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 76219283 76219283 G A SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.1535 p.R512H 0.999 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 68 0 0 78 29 27.1028 FLRT2 0 genome.wustl.edu 37 14 86089507 86089507 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 86089507 86089507 C T SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1649 p.A550V 0.996 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 144 1 0.689655 164 46 21.9048 TTC7B 0 genome.wustl.edu 37 14 91142956 91142956 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 91142956 91142956 G A SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known missense c.1063 p.R355C 1.000 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 113 0 0 105 37 26.0563 UNC79 0 genome.wustl.edu 37 14 94173133 94173133 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 94173133 94173133 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.7857 p.S2619 0.023 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 108 0 0 111 39 26 TUBGCP5 0 genome.wustl.edu 37 15 22872545 22872545 + Silent SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 22872545 22872545 A G SNP TUBGCP5 ENST00000453949 human ensembl 74_37 +1 known silent c.3074 p.*1025 0.000 NULL pfam_TUBGCP - no_errors TUBGCP5 HGNC ENSG00000153575 57 0 0 59 16 21.3333 SNHG14 0 genome.wustl.edu 37 15 25339068 25339068 + RNA SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 25339068 25339068 C T SNP SNHG14 ENST00000546682 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 17 0 0 17 5 22.7273 ATP10A 0 genome.wustl.edu 37 15 25959016 25959016 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 25959016 25959016 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.2149 p.R717W 0.940 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 91 0 0 97 31 24.2188 OCA2 0 genome.wustl.edu 37 15 28230313 28230313 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 28230313 28230313 G A SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.1261 p.R421W 0.786 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 51 0 0 37 16 30.1887 HERC2 0 genome.wustl.edu 37 15 28386591 28386591 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 28386591 28386591 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.12002 p.T4001M 1.000 superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,pfscan_Reg_chr_condens 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 72 0 0 76 22 22.449 HERC2 0 genome.wustl.edu 37 15 28482137 28482137 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 28482137 28482137 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.3975 p.P1325 0.929 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 123 0 0 106 42 28.3784 TJP1 0 genome.wustl.edu 37 15 30092850 30092850 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 30092850 30092850 C A SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.83 p.R28M 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 163 0 0 142 35 19.774 RYR3 0 genome.wustl.edu 37 15 34040421 34040421 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 34040421 34040421 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.8096 p.R2699Q 1.000 superfamily_ARM-type_fold 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 41 0 0 58 20 25.641 NUTM1 0 genome.wustl.edu 37 15 34642991 34642991 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 34642991 34642991 C T SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known missense c.812 p.T271I 0.990 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 53 0 0 57 22 27.8481 VPS18 0 genome.wustl.edu 37 15 41191772 41191772 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 41191772 41191772 G A SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known silent c.756 p.T252 0.536 NULL pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 196 0 0 164 61 27.1111 INO80 0 genome.wustl.edu 37 15 41277580 41277580 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 41277580 41277580 G A SNP INO80 ENST00000361937 human ensembl 74_37 -1 known nonsense c.3877 p.R1293* 1.000 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 INO80 HGNC ENSG00000128908 86 0 0 95 30 24 MAPKBP1 0 genome.wustl.edu 37 15 42105142 42105142 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 42105142 42105142 G A SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known missense c.662 p.G221D 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 118 0 0 121 40 24.8447 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42134087 42134087 + Silent SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 42134087 42134087 T A SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known silent c.1254 p.T418 0.000 NULL pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 29 0 0 25 4 13.7931 GANC 0 genome.wustl.edu 37 15 42602621 42602621 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 42602621 42602621 C T SNP GANC ENST00000318010 human ensembl 74_37 +1 known missense c.863 p.S288L 0.993 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANC HGNC ENSG00000214013 41 0 0 66 31 31.9588 CDAN1 0 genome.wustl.edu 37 15 43028259 43028259 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 43028259 43028259 C A SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known missense c.587 p.R196M 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 66 0 0 51 15 22.7273 MAP1A 0 genome.wustl.edu 37 15 43815140 43815140 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 43815140 43815140 G A SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.1469 p.R490H 0.569 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 51 0 0 52 15 22.3881 DUOX2 0 genome.wustl.edu 37 15 45404834 45404834 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 45404834 45404834 C T SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known silent c.243 p.P81 0.710 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal 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 66 0 0 59 27 31.3953 DUOXA2 0 genome.wustl.edu 37 15 45409435 45409435 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 45409435 45409435 C T SNP DUOXA2 ENST00000323030 human ensembl 74_37 +1 known missense c.701 p.P234L 0.013 pfam_Dual_oxidase_maturation_fac pfam_Dual_oxidase_maturation_fac - no_errors DUOXA2 HGNC ENSG00000140274 23 0 0 27 4 12.9032 GATM 0 genome.wustl.edu 37 15 45660384 45660384 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 45660384 45660384 G A SNP GATM ENST00000396659 human ensembl 74_37 -1 known missense c.559 p.R187C 1.000 NULL NULL - no_errors GATM HGNC ENSG00000171766 42 0 0 47 20 29.8507 SEMA6D 0 genome.wustl.edu 37 15 48052032 48052032 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 48052032 48052032 C T SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known silent c.37 p.L13 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 28 0 0 55 15 21.4286 FBN1 0 genome.wustl.edu 37 15 48782150 48782150 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 48782150 48782150 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.2980 p.E994K 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 134 1 0.740741 117 40 25.4777 FAM227B 0 genome.wustl.edu 37 15 49907322 49907322 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 49907322 49907322 G T SNP FAM227B ENST00000299338 human ensembl 74_37 -1 known missense c.47 p.P16H 0.000 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 199 0 0 261 79 23.2353 GABPB1 0 genome.wustl.edu 37 15 50570857 50570857 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 50570857 50570857 C T SNP GABPB1 ENST00000220429 human ensembl 74_37 -1 known missense c.1160 p.R387H 0.703 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 GABPB1 HGNC ENSG00000104064 159 0 0 188 45 19.3133 SCG3 0 genome.wustl.edu 37 15 52011689 52011689 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 52011689 52011689 C T SNP SCG3 ENST00000220478 human ensembl 74_37 +1 known missense c.1373 p.A458V 0.996 NULL NULL - no_errors SCG3 HGNC ENSG00000104112 43 0 0 53 14 20.8955 PRTG 0 genome.wustl.edu 37 15 55971645 55971645 + Splice_Site SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 55971645 55971645 T C SNP PRTG ENST00000389286 human ensembl 74_37 -1 known splice_site c.974-2 e7-2 0.995 - - - no_errors PRTG HGNC ENSG00000166450 31 0 0 57 18 24 RFX7 0 genome.wustl.edu 37 15 56386864 56386864 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 56386864 56386864 C A SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.3062 p.R1021M 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 52 0 0 70 16 18.6047 FAM63B 0 genome.wustl.edu 37 15 59080107 59080107 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 59080107 59080107 G A SNP FAM63B ENST00000559228 human ensembl 74_37 +1 known silent c.843 p.V281 1.000 pfam_DUF544 pfam_DUF544 - no_errors FAM63B HGNC ENSG00000128923 150 0 0 133 30 18.4049 FOXB1 0 genome.wustl.edu 37 15 60297902 60297902 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 60297902 60297902 C T SNP FOXB1 ENST00000396057 human ensembl 74_37 +1 known missense c.740 p.P247L 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXB1 HGNC ENSG00000171956 20 0 0 13 4 23.5294 TLN2 0 genome.wustl.edu 37 15 63004189 63004189 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 63004189 63004189 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.2547 p.A849 0.009 NULL 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 50 0 0 84 15 15.1515 LACTB 0 genome.wustl.edu 37 15 63433525 63433525 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 63433525 63433525 G A SNP LACTB ENST00000261893 human ensembl 74_37 +1 known missense c.1165 p.V389M 1.000 pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like - no_errors LACTB HGNC ENSG00000103642 111 0 0 129 51 28.3333 SNX1 0 genome.wustl.edu 37 15 64419453 64419453 + Splice_Site SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 64419453 64419453 T C SNP SNX1 ENST00000559844 human ensembl 74_37 +1 known splice_site c.731+2 e7+2 0.996 - - - no_errors SNX1 HGNC ENSG00000028528 26 0 0 34 16 32 LCTL 0 genome.wustl.edu 37 15 66845477 66845477 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 66845477 66845477 A G SNP LCTL ENST00000341509 human ensembl 74_37 -1 known missense c.1042 p.Y348H 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCTL HGNC ENSG00000188501 179 1 0.555556 182 67 26.9076 UACA 0 genome.wustl.edu 37 15 70961645 70961645 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 70961645 70961645 G A SNP UACA ENST00000322954 human ensembl 74_37 -1 known nonsense c.1378 p.R460* 0.390 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 106 0 0 223 61 21.4789 NEO1 0 genome.wustl.edu 37 15 73418762 73418762 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 73418762 73418762 T C SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known silent c.729 p.P243 0.001 pfscan_Ig-like_dom 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 124 0 0 168 53 23.9819 TMC3 0 genome.wustl.edu 37 15 81631013 81631013 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 81631013 81631013 G A SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known silent c.2064 p.P688 0.003 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 53 0 0 90 19 17.4312 MEX3B 0 genome.wustl.edu 37 15 82336392 82336392 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 82336392 82336392 C T SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known silent c.819 p.T273 0.991 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 53 0 0 32 23 41.8182 BTBD1 0 genome.wustl.edu 37 15 83735743 83735743 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 83735743 83735743 G A SNP BTBD1 ENST00000261721 human ensembl 74_37 -1 known missense c.161 p.S54L 1.000 superfamily_BTB/POZ_fold pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 16 0 0 13 3 18.75 WDR73 0 genome.wustl.edu 37 15 85191826 85191826 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 85191826 85191826 G A SNP WDR73 ENST00000434634 human ensembl 74_37 -1 known missense c.229 p.R77C 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR73 HGNC ENSG00000177082 128 0 0 136 44 24.4444 AGBL1 0 genome.wustl.edu 37 15 86838491 86838491 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 86838491 86838491 T C SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known silent c.2088 p.H696 0.999 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 10 0 0 40 11 21.5686 DET1 0 genome.wustl.edu 37 15 89074530 89074530 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 89074530 89074530 T C SNP DET1 ENST00000444300 human ensembl 74_37 -1 known missense c.440 p.N147S 1.000 NULL pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 37 0 0 64 15 18.9873 BLM 0 genome.wustl.edu 37 15 91346819 91346819 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 91346819 91346819 G A SNP BLM ENST00000355112 human ensembl 74_37 +1 known missense c.3427 p.E1143K 1.000 pfam_RQC_domain,smart_RQC_domain,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 153 0 0 151 44 22.5641 IGF1R 0 genome.wustl.edu 37 15 99434589 99434589 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 99434589 99434589 G A SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.676 p.E226K 0.915 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom 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_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,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 IGF1R HGNC ENSG00000140443 29 0 0 25 9 26.4706 SYNM 0 genome.wustl.edu 37 15 99670476 99670476 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 99670476 99670476 C T SNP SYNM ENST00000336292 human ensembl 74_37 +1 known silent c.1908 p.T636 0.002 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 38 0 0 44 8 15.3846 CIITA 0 genome.wustl.edu 37 16 11001797 11001797 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 11001797 11001797 C T SNP CIITA ENST00000324288 human ensembl 74_37 +1 known silent c.2448 p.A816 0.000 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 79 0 0 80 21 20.7921 ENSG00000212228 0 genome.wustl.edu 37 16 11367984 11367984 + RNA SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 11367984 11367984 C T SNP ENSG00000212228 ENST00000390926 human ensembl 74_37 -1 novel rna NULL NULL 0.223 - - - no_errors SNORA48 RFAM ENSG00000212228 23 0 0 28 4 12.5 TNFRSF17 0 genome.wustl.edu 37 16 12061469 12061469 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 12061469 12061469 G A SNP TNFRSF17 ENST00000053243 human ensembl 74_37 +1 known missense c.320 p.S107N 0.000 pirsf_TNFR_17 pfam_BCMA_Tall-1-bd,pirsf_TNFR_17,prints_TNFR_17,prints_TNFR_13C - no_errors TNFRSF17 HGNC ENSG00000048462 118 0 0 150 26 14.7727 NPIPP1 0 genome.wustl.edu 37 16 15204314 15204314 + RNA SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 15204314 15204314 G A SNP NPIPP1 ENST00000534799 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NPIPP1 HGNC ENSG00000188599 88 0 0 78 31 28.4404 HAGH 0 genome.wustl.edu 37 16 1867196 1867196 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 1867196 1867196 C A SNP HAGH ENST00000397356 human ensembl 74_37 -1 known missense c.618 p.E206D 0.843 pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase - no_errors HAGH HGNC ENSG00000063854 72 0 0 73 15 17.0455 SMG1 0 genome.wustl.edu 37 16 18844470 18844470 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 18844470 18844470 G A SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.8584 p.R2862W 1.000 superfamily_ARM-type_fold 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 SMG1 HGNC ENSG00000157106 54 0 0 74 16 17.7778 TMC5 0 genome.wustl.edu 37 16 19501878 19501878 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 19501878 19501878 C A SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known missense c.2735 p.T912N 1.000 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 263 0 0 268 85 24.0793 ACSM2A 0 genome.wustl.edu 37 16 20482476 20482476 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 20482476 20482476 T C SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known silent c.678 p.G226 0.008 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 46 0 0 103 37 26.4286 DNAH3 0 genome.wustl.edu 37 16 20975756 20975756 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 20975756 20975756 T C SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.9450 p.Q3150 0.967 NULL 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 279 1 0.357143 270 93 25.6198 NPIPB3 0 genome.wustl.edu 37 16 21416178 21416178 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 21416178 21416178 G T SNP NPIPB3 ENST00000458643 human ensembl 74_37 -1 known missense c.530 p.P177H 0.093 NULL NULL - no_errors NPIPB3 HGNC ENSG00000169246 172 1 0.578035 192 18 8.57143 NPIPB4 0 genome.wustl.edu 37 16 21854828 21854828 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 21854828 21854828 C T SNP NPIPB4 ENST00000415645 human ensembl 74_37 -1 known missense c.424 p.V142I 0.001 NULL NULL - no_errors NPIPB4 HGNC ENSG00000185864 379 0 0 406 55 11.9306 HS3ST2 0 genome.wustl.edu 37 16 22826074 22826074 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 22826074 22826074 G A SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known missense c.143 p.R48H 0.996 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 27 0 0 25 5 16.6667 CHP2 0 genome.wustl.edu 37 16 23767738 23767738 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 23767738 23767738 G A SNP CHP2 ENST00000300113 human ensembl 74_37 +1 known missense c.382 p.D128N 0.997 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CHP2 HGNC ENSG00000166869 53 0 0 42 15 26.3158 CCNF 0 genome.wustl.edu 37 16 2487153 2487153 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 2487153 2487153 G A SNP CCNF ENST00000397066 human ensembl 74_37 +1 known missense c.370 p.A124T 0.997 superfamily_F-box_dom pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 247 0 0 217 80 26.936 AMDHD2 0 genome.wustl.edu 37 16 2577820 2577820 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 2577820 2577820 G A SNP AMDHD2 ENST00000563633 human ensembl 74_37 +1 known missense c.407 p.R136H 0.063 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite - no_errors AMDHD2 HGNC ENSG00000162066 23 0 0 24 16 40 GTF3C1 0 genome.wustl.edu 37 16 27514179 27514179 + Splice_Site SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 27514179 27514179 C T SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known splice_site c.1907+1 e11+1 1.000 - - - no_errors GTF3C1 HGNC ENSG00000077235 8 0 0 13 6 31.5789 XPO6 0 genome.wustl.edu 37 16 28167579 28167579 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 28167579 28167579 G A SNP XPO6 ENST00000304658 human ensembl 74_37 -1 known missense c.913 p.R305C 0.998 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 76 0 0 92 36 28.125 RRN3P2 0 genome.wustl.edu 37 16 29110458 29110458 + RNA SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 29110458 29110458 T C SNP RRN3P2 ENST00000427965 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors RRN3P2 HGNC ENSG00000103472 39 0 0 52 9 14.7541 MVP 0 genome.wustl.edu 37 16 29841818 29841818 + RNA SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 29841818 29841818 G A SNP MVP ENST00000565830 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MVP HGNC ENSG00000013364 114 0 0 109 44 28.7582 ZSCAN10 0 genome.wustl.edu 37 16 3140201 3140201 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 3140201 3140201 G A SNP ZSCAN10 ENST00000252463 human ensembl 74_37 -1 known missense c.1069 p.R357C 0.800 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZSCAN10 HGNC ENSG00000130182 142 1 0.699301 164 45 21.5311 ITGAD 0 genome.wustl.edu 37 16 31434704 31434704 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 31434704 31434704 T C SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.2891 p.I964T 0.635 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 124 0 0 84 35 29.4118 ZNF597 0 genome.wustl.edu 37 16 3487250 3487250 + Missense_Mutation SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 3487250 3487250 T A SNP ZNF597 ENST00000301744 human ensembl 74_37 -1 known missense c.449 p.E150V 0.891 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ENSG00000167981 238 0 0 279 100 26.3852 TFAP4 0 genome.wustl.edu 37 16 4308193 4308193 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 4308193 4308193 G A SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known nonsense c.880 p.R294* 0.957 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 65 0 0 52 13 20 ABCC12 0 genome.wustl.edu 37 16 48174686 48174686 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 48174686 48174686 G A SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.569 p.T190M 0.995 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom 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 - no_errors ABCC12 HGNC ENSG00000140798 202 0 0 191 66 25.6809 NKD1 0 genome.wustl.edu 37 16 50667286 50667286 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 50667286 50667286 G A SNP NKD1 ENST00000268459 human ensembl 74_37 +1 known missense c.1007 p.R336Q 1.000 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 157 0 0 145 59 28.9216 CHD9 0 genome.wustl.edu 37 16 53358011 53358011 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 53358011 53358011 G A SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.7898 p.R2633Q 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 111 0 0 207 54 20.6897 NUDT21 0 genome.wustl.edu 37 16 56485017 56485017 + Missense_Mutation SNP A A C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 56485017 56485017 A C SNP NUDT21 ENST00000300291 human ensembl 74_37 -1 known missense c.98 p.L33R 1.000 pirsf_Cleav_polyA_spec_factor_su5 superfamily_NUDIX_hydrolase_dom-like,pirsf_Cleav_polyA_spec_factor_su5 - no_errors NUDT21 HGNC ENSG00000167005 159 0 0 174 36 17.1429 BBS2 0 genome.wustl.edu 37 16 56536265 56536265 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 56536265 56536265 C T SNP BBS2 ENST00000245157 human ensembl 74_37 -1 known silent c.1044 p.L348 1.000 pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC ENSG00000125124 290 0 0 282 99 25.9843 CX3CL1 0 genome.wustl.edu 37 16 57416231 57416231 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 57416231 57416231 G A SNP CX3CL1 ENST00000006053 human ensembl 74_37 +1 known missense c.481 p.V161M 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CX3CL1 - no_errors CX3CL1 HGNC ENSG00000006210 91 0 0 80 30 27.2727 CCDC135 0 genome.wustl.edu 37 16 57760170 57760170 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 57760170 57760170 C T SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.1949 p.T650M 0.997 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 92 0 0 99 18 15.3846 ENSG00000260240 0 genome.wustl.edu 37 16 59788699 59788699 + RNA SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 59788699 59788699 C T SNP ENSG00000260240 ENST00000565921 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors RP11-105C20.2 Clone_based_vega_gene ENSG00000260240 88 0 0 108 41 27.5168 CDH11 0 genome.wustl.edu 37 16 65005898 65005898 + Missense_Mutation SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 65005898 65005898 T A SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1460 p.K487M 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 33 0 0 59 7 10.6061 CDH16 0 genome.wustl.edu 37 16 66948222 66948222 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 66948222 66948222 G A SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known missense c.677 p.T226I 0.195 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 133 0 0 145 18 11.0429 B3GNT9 0 genome.wustl.edu 37 16 67184159 67184159 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 67184159 67184159 G A SNP B3GNT9 ENST00000449549 human ensembl 74_37 -1 known missense c.230 p.T77M 1.000 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT9 HGNC ENSG00000237172 24 0 0 37 10 21.2766 RAB40C 0 genome.wustl.edu 37 16 675439 675439 + Missense_Mutation SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 675439 675439 T G SNP RAB40C ENST00000248139 human ensembl 74_37 +1 known missense c.272 p.L91R 0.998 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,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC ENSG00000197562 47 0 0 57 10 14.9254 ACD 0 genome.wustl.edu 37 16 67692931 67692931 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 67692931 67692931 T C SNP ACD ENST00000393919 human ensembl 74_37 -1 known missense c.803 p.Q268R 0.029 NULL NULL - no_errors ACD HGNC ENSG00000102977 111 0 0 115 32 21.7687 DUS2 0 genome.wustl.edu 37 16 68104974 68104974 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 68104974 68104974 G A SNP DUS2 ENST00000358896 human ensembl 74_37 +1 known missense c.773 p.R258Q 0.668 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom - no_errors DUS2 HGNC ENSG00000167264 125 0 0 105 38 26.5734 NOB1 0 genome.wustl.edu 37 16 69782198 69782198 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 69782198 69782198 G A SNP NOB1 ENST00000268802 human ensembl 74_37 -1 known missense c.761 p.A254V 1.000 pirsf_D-site_20S_pre-rRNA_nuclease pfam_NOB1_Zn-bd,smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease - no_errors NOB1 HGNC ENSG00000141101 57 0 0 60 22 26.8293 LOC100506060 0 genome.wustl.edu 37 16 70253871 70253871 + RNA SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 70253871 70253871 A G SNP LOC100506060 ENST00000573141 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-296I10.6 Clone_based_vega_gene ENSG00000261556 9 0 0 29 3 9.375 COG4 0 genome.wustl.edu 37 16 70514920 70514920 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 70514920 70514920 C T SNP COG4 ENST00000323786 human ensembl 74_37 -1 known missense c.2363 p.R788H 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 110 0 0 111 33 22.9167 IL34 0 genome.wustl.edu 37 16 70693588 70693588 + Missense_Mutation SNP A A T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 70693588 70693588 A T SNP IL34 ENST00000288098 human ensembl 74_37 +1 known missense c.470 p.K157M 1.000 NULL prints_IL-34 - no_errors IL34 HGNC ENSG00000157368 26 0 0 35 8 18.6047 MTSS1L 0 genome.wustl.edu 37 16 70697624 70697624 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 70697624 70697624 G A SNP MTSS1L ENST00000338779 human ensembl 74_37 -1 known missense c.2200 p.R734C 1.000 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 8 0 0 8 4 33.3333 PHLPP2 0 genome.wustl.edu 37 16 71715761 71715761 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 71715761 71715761 G A SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known silent c.783 p.L261 0.951 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 133 0 0 114 36 24 WDR59 0 genome.wustl.edu 37 16 74976648 74976648 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 74976648 74976648 T C SNP WDR59 ENST00000262144 human ensembl 74_37 -1 known missense c.522 p.I174M 0.994 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 84 0 0 86 28 24.5614 TERF2IP 0 genome.wustl.edu 37 16 75681991 75681991 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 75681991 75681991 C T SNP TERF2IP ENST00000300086 human ensembl 74_37 +1 known silent c.211 p.L71 0.040 superfamily_BRCT_dom pfam_Rap1_Myb_dom,superfamily_Homeodomain-like,superfamily_BRCT_dom - no_errors TERF2IP HGNC ENSG00000166848 17 0 0 11 5 31.25 RBFOX1 0 genome.wustl.edu 37 16 7703854 7703854 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 7703854 7703854 C T SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known silent c.924 p.A308 0.967 pfam_Fox-1_C_dom,pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 51 0 0 50 12 19.3548 CDYL2 0 genome.wustl.edu 37 16 80718806 80718806 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 80718806 80718806 C T SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known missense c.245 p.R82Q 0.925 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 123 0 0 117 41 25.9494 PKD1L2 0 genome.wustl.edu 37 16 81211460 81211460 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 81211460 81211460 C T SNP PKD1L2 ENST00000337114 human ensembl 74_37 -1 known missense c.2389 p.A797T 0.000 pfam_PKD/REJ-like,pfscan_REJ-like pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like - no_errors PKD1L2 HGNC ENSG00000166473 170 0 0 201 49 19.6 KCNG4 0 genome.wustl.edu 37 16 84256030 84256030 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 84256030 84256030 C T SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known silent c.1353 p.T451 0.727 pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 137 0 0 155 65 29.5455 FOXC2 0 genome.wustl.edu 37 16 86601603 86601603 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 86601603 86601603 C T SNP FOXC2 ENST00000320354 human ensembl 74_37 +1 known missense c.662 p.A221V 0.985 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC2 HGNC ENSG00000176692 10 0 0 12 6 33.3333 TMEM186 0 genome.wustl.edu 37 16 8889880 8889880 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 8889880 8889880 G A SNP TMEM186 ENST00000333050 human ensembl 74_37 -1 known silent c.571 p.L191 0.012 NULL NULL - no_errors TMEM186 HGNC ENSG00000184857 202 0 0 174 52 23.0088 PABPN1L 0 genome.wustl.edu 37 16 88931440 88931440 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 88931440 88931440 G A SNP PABPN1L ENST00000378358 human ensembl 74_37 -1 known missense c.556 p.H186Y 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PABPN1L HGNC ENSG00000205022 9 0 0 9 4 30.7692 VPS9D1 0 genome.wustl.edu 37 16 89783024 89783024 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 89783024 89783024 G A SNP VPS9D1 ENST00000389386 human ensembl 74_37 -1 known missense c.277 p.R93C 0.000 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 203 0 0 165 52 23.9631 ZNF276 0 genome.wustl.edu 37 16 89789790 89789790 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 89789790 89789790 G A SNP ZNF276 ENST00000443381 human ensembl 74_37 +1 known missense c.679 p.V227I 0.007 NULL pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF276 HGNC ENSG00000158805 70 0 0 71 27 27.551 TUBB3 0 genome.wustl.edu 37 16 90001343 90001343 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 90001343 90001343 C T SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known missense c.484 p.R162C 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_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 TUBB3 Uniprot_gn ENSG00000258947 143 0 0 129 38 22.7545 C16orf3 0 genome.wustl.edu 37 16 90095641 90095641 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 90095641 90095641 C T SNP C16orf3 ENST00000408886 human ensembl 74_37 -1 known missense c.110 p.C37Y 0.000 NULL NULL - no_errors C16orf3 HGNC ENSG00000221819 85 0 0 76 21 21.6495 MYH13 0 genome.wustl.edu 37 17 10216027 10216027 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 10216027 10216027 G A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.4229 p.T1410M 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 41 0 0 25 11 30.5556 MYH4 0 genome.wustl.edu 37 17 10360811 10360811 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 10360811 10360811 A G SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.1823 p.V608A 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 87 0 0 105 33 23.913 TUSC5 0 genome.wustl.edu 37 17 1183346 1183346 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 1183346 1183346 C T SNP TUSC5 ENST00000333813 human ensembl 74_37 +1 known silent c.51 p.S17 0.005 NULL pfam_CD225/Dispanin_fam - no_errors TUSC5 HGNC ENSG00000184811 111 0 0 129 31 19.375 YWHAE 0 genome.wustl.edu 37 17 1248762 1248762 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 1248762 1248762 G A SNP YWHAE ENST00000575977 human ensembl 74_37 -1 putative missense c.296 p.T99M 1.000 pfam_14-3-3_domain,smart_14-3-3_domain,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,prints_14-3-3 - no_errors YWHAE HGNC ENSG00000108953 274 0 0 251 71 22.0497 CRK 0 genome.wustl.edu 37 17 1359408 1359408 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 1359408 1359408 C T SNP CRK ENST00000300574 human ensembl 74_37 -1 known missense c.4 p.A2T 1.000 NULL pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors CRK HGNC ENSG00000167193 12 0 0 16 6 27.2727 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 102 0 0 158 18 10.2273 NCOR1 0 genome.wustl.edu 37 17 16075241 16075241 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 16075241 16075241 A G SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.311 p.L104P 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 57 0 0 58 17 22.6667 LLGL1 0 genome.wustl.edu 37 17 18140801 18140801 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 18140801 18140801 G A SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known missense c.1618 p.V540I 1.000 superfamily_WD40_repeat_dom,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 37 0 0 27 11 28.9474 SLC5A10 0 genome.wustl.edu 37 17 18880290 18880290 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 18880290 18880290 G A SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known missense c.970 p.A324T 0.097 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 SLC5A10 HGNC ENSG00000154025 112 0 0 115 33 22.2973 ULK2 0 genome.wustl.edu 37 17 19685239 19685239 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 19685239 19685239 C T SNP ULK2 ENST00000361658 human ensembl 74_37 -1 known missense c.2602 p.V868M 1.000 pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 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 112 0 0 109 22 16.7939 LGALS9B 0 genome.wustl.edu 37 17 20354922 20354922 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 20354922 20354922 C T SNP LGALS9B ENST00000423676 human ensembl 74_37 -1 known missense c.796 p.A266T 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9B HGNC ENSG00000170298 107 0 0 95 16 14.4144 LGALS9B 0 genome.wustl.edu 37 17 20356361 20356361 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 20356361 20356361 G A SNP LGALS9B ENST00000423676 human ensembl 74_37 -1 known missense c.596 p.T199M 0.000 NULL pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9B HGNC ENSG00000170298 269 0 0 193 74 27.7154 KIAA0100 0 genome.wustl.edu 37 17 26960634 26960634 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 26960634 26960634 C T SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.3398 p.R1133H 1.000 pfam_FMP27_GFWDK_dom pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 44 0 0 43 12 21.8182 FAM222B 0 genome.wustl.edu 37 17 27086787 27086787 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 27086787 27086787 T C SNP FAM222B ENST00000341217 human ensembl 74_37 -1 known missense c.190 p.N64D 1.000 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 30 0 0 30 3 9.09091 TP53I13 0 genome.wustl.edu 37 17 27899562 27899562 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 27899562 27899562 C T SNP TP53I13 ENST00000301057 human ensembl 74_37 +1 known missense c.916 p.R306C 1.000 NULL NULL - no_errors TP53I13 HGNC ENSG00000167543 27 0 0 10 5 33.3333 NLE1 0 genome.wustl.edu 37 17 33464048 33464048 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 33464048 33464048 C T SNP NLE1 ENST00000442241 human ensembl 74_37 -1 known missense c.800 p.R267H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep,prints_Gprotein_B - no_errors NLE1 HGNC ENSG00000073536 134 0 0 167 35 17.3267 AP2B1 0 genome.wustl.edu 37 17 33963434 33963434 + Silent SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 33963434 33963434 A G SNP AP2B1 ENST00000312678 human ensembl 74_37 +1 known silent c.1230 p.A410 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 67 0 0 61 17 21.7949 TAF15 0 genome.wustl.edu 37 17 34171771 34171771 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 34171771 34171771 C T SNP TAF15 ENST00000588240 human ensembl 74_37 +1 known nonsense c.1468 p.R490* 0.996 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC ENSG00000172660 43 0 0 41 9 18 MRM1 0 genome.wustl.edu 37 17 34964141 34964141 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 34964141 34964141 G A SNP MRM1 ENST00000250156 human ensembl 74_37 +1 known silent c.672 p.T224 0.999 pfam_SpoU_MeTrfase,tigrfam_rRNA_MeTrfase_TrmH pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd,tigrfam_rRNA_MeTrfase_TrmH - no_errors MRM1 HGNC ENSG00000129282 299 0 0 290 103 26.2087 CACNB1 0 genome.wustl.edu 37 17 37343783 37343783 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 37343783 37343783 C T SNP CACNB1 ENST00000394303 human ensembl 74_37 -1 known silent c.363 p.V121 1.000 superfamily_SH3_domain,pfscan_SH3_domain,prints_VDCC_L_b1su pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 187 0 0 143 42 22.7027 PNMT 0 genome.wustl.edu 37 17 37826239 37826239 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 37826239 37826239 C T SNP PNMT ENST00000269582 human ensembl 74_37 +1 known missense c.446 p.A149V 0.591 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors PNMT HGNC ENSG00000141744 86 0 0 79 17 17.7083 KRT20 0 genome.wustl.edu 37 17 39034577 39034577 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 39034577 39034577 C T SNP KRT20 ENST00000167588 human ensembl 74_37 -1 known missense c.959 p.R320H 0.920 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT20 HGNC ENSG00000171431 88 0 0 141 27 16.0714 CCR10 0 genome.wustl.edu 37 17 40832446 40832446 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 40832446 40832446 C T SNP CCR10 ENST00000332438 human ensembl 74_37 -1 known missense c.214 p.A72T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR10,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CCR10 HGNC ENSG00000184451 8 0 0 12 6 33.3333 CNTNAP1 0 genome.wustl.edu 37 17 40836173 40836173 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 40836173 40836173 G A SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.289 p.V97I 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_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 327 0 0 303 94 23.6776 AOC4P 0 genome.wustl.edu 37 17 41019902 41019902 + RNA SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 41019902 41019902 C T SNP AOC4P ENST00000562301 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AOC4P HGNC ENSG00000260105 57 0 0 62 14 18.4211 BRCA1 0 genome.wustl.edu 37 17 41244466 41244466 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 41244466 41244466 G A SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.3082 p.R1028C 0.867 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 164 0 0 245 59 19.4079 MPP2 0 genome.wustl.edu 37 17 41958160 41958160 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 41958160 41958160 C T SNP MPP2 ENST00000461854 human ensembl 74_37 -1 known missense c.1121 p.R374Q 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,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 MPP2 HGNC ENSG00000108852 81 0 0 119 32 21.1921 SLC4A1 0 genome.wustl.edu 37 17 42330716 42330716 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 42330716 42330716 C T SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known missense c.2081 p.R694H 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 88 0 0 65 19 22.619 FZD2 0 genome.wustl.edu 37 17 42636530 42636530 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 42636530 42636530 C T SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.1474 p.R492C 1.000 pfam_Frizzled,pfscan_GPCR_2-like 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 47 0 0 50 13 20.6349 C1QL1 0 genome.wustl.edu 37 17 43037677 43037677 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 43037677 43037677 C T SNP C1QL1 ENST00000253407 human ensembl 74_37 -1 known missense c.656 p.S219N 1.000 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 C1QL1 HGNC ENSG00000131094 99 0 0 97 31 24.2188 PLCD3 0 genome.wustl.edu 37 17 43196290 43196290 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 43196290 43196290 C T SNP PLCD3 ENST00000322765 human ensembl 74_37 -1 known missense c.805 p.V269M 0.998 pfam_PLipase_C_EF-hand-like 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_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 31 0 0 29 9 23.6842 ARHGAP27 0 genome.wustl.edu 37 17 43474387 43474387 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 43474387 43474387 C T SNP ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known missense c.1846 p.A616T 0.995 NULL pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 71 0 0 62 12 16.2162 ENSG00000262905 0 genome.wustl.edu 37 17 456537 456537 + RNA SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 456537 456537 C T SNP ENSG00000262905 ENST00000574008 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-1029F21.2 Clone_based_vega_gene ENSG00000262905 27 0 0 40 11 21.5686 HOXB4 0 genome.wustl.edu 37 17 46654330 46654330 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 46654330 46654330 C T SNP HOXB4 ENST00000332503 human ensembl 74_37 -1 known silent c.510 p.T170 0.991 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_antennapedia pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB4 HGNC ENSG00000182742 127 1 0.78125 145 51 26.0204 SPOP 0 genome.wustl.edu 37 17 47696653 47696653 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 47696653 47696653 G A SNP SPOP ENST00000347630 human ensembl 74_37 -1 known missense c.295 p.R99W 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOP HGNC ENSG00000121067 139 0 0 146 41 21.9251 SPOP 0 genome.wustl.edu 37 17 47700149 47700149 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 47700149 47700149 T C SNP SPOP ENST00000347630 human ensembl 74_37 -1 known silent c.24 p.P8 0.997 NULL pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOP HGNC ENSG00000121067 148 0 0 130 39 23.0769 SPATA20 0 genome.wustl.edu 37 17 48627597 48627597 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 48627597 48627597 A G SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.1022 p.Q341R 1.000 pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 171 1 0.581395 147 34 18.7845 WFIKKN2 0 genome.wustl.edu 37 17 48917620 48917620 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 48917620 48917620 C T SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known missense c.971 p.P324L 1.000 superfamily_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 62 0 0 79 24 23.301 SPAG9 0 genome.wustl.edu 37 17 49067155 49067155 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 49067155 49067155 G A SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known missense c.2696 p.A899V 1.000 superfamily_WD40_repeat_dom pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 211 1 0.471698 209 72 25.6228 SMG8 0 genome.wustl.edu 37 17 57288418 57288418 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 57288418 57288418 G A SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known missense c.1006 p.V336M 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 92 0 0 86 21 19.6262 HEATR6 0 genome.wustl.edu 37 17 58121371 58121371 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 58121371 58121371 G A SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known silent c.3099 p.Y1033 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 203 0 0 187 76 28.8973 SCN4A 0 genome.wustl.edu 37 17 62036661 62036661 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 62036661 62036661 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.1983 p.N661 0.359 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 73 0 0 57 19 25 GEMIN4 0 genome.wustl.edu 37 17 649966 649966 + Silent SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 649966 649966 G T SNP GEMIN4 ENST00000319004 human ensembl 74_37 -1 known silent c.1317 p.A439 0.811 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 81 0 0 77 20 20.6186 KIAA0753 0 genome.wustl.edu 37 17 6510238 6510238 + Missense_Mutation SNP A A C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 6510238 6510238 A C SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known missense c.1964 p.L655R 0.861 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 78 0 0 109 32 22.695 NOL11 0 genome.wustl.edu 37 17 65720282 65720282 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 65720282 65720282 C T SNP NOL11 ENST00000253247 human ensembl 74_37 +1 known missense c.637 p.R213W 0.780 pfam_NUC205 pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 49 0 0 43 8 15.6863 ABCA9 0 genome.wustl.edu 37 17 66982438 66982438 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 66982438 66982438 C T SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.4075 p.E1359K 0.002 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 90 0 0 120 25 17.2414 SLC16A13 0 genome.wustl.edu 37 17 6940102 6940102 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 6940102 6940102 G A SNP SLC16A13 ENST00000308027 human ensembl 74_37 +1 known missense c.256 p.G86R 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A13 HGNC ENSG00000174327 310 0 0 293 80 21.4477 DLG4 0 genome.wustl.edu 37 17 7095236 7095236 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 7095236 7095236 C T SNP DLG4 ENST00000399510 human ensembl 74_37 -1 known missense c.2081 p.R694H 1.000 pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG4 HGNC ENSG00000132535 104 0 0 78 29 27.1028 SSTR2 0 genome.wustl.edu 37 17 71166486 71166486 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 71166486 71166486 G A SNP SSTR2 ENST00000357585 human ensembl 74_37 +1 known missense c.1028 p.S343N 1.000 prints_Somatstn_rcpt_2,prints_Somatstn_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_2,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_5 - no_errors SSTR2 HGNC ENSG00000180616 85 0 0 95 44 31.6547 DVL2 0 genome.wustl.edu 37 17 7131322 7131322 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 7131322 7131322 G T SNP DVL2 ENST00000005340 human ensembl 74_37 -1 known missense c.1076 p.P359H 1.000 superfamily_PDZ 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 64 0 0 61 11 15.2778 DVL2 0 genome.wustl.edu 37 17 7132917 7132917 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 7132917 7132917 C T SNP DVL2 ENST00000005340 human ensembl 74_37 -1 known missense c.737 p.R246H 1.000 superfamily_PDZ 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 165 0 0 181 38 17.3516 TNK1 0 genome.wustl.edu 37 17 7287908 7287908 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 7287908 7287908 G T SNP TNK1 ENST00000576812 human ensembl 74_37 +1 known missense c.972 p.W324C 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,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,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK1 HGNC ENSG00000174292 18 0 0 27 8 22.8571 SLC16A5 0 genome.wustl.edu 37 17 73096287 73096287 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 73096287 73096287 G A SNP SLC16A5 ENST00000329783 human ensembl 74_37 +1 known missense c.529 p.G177R 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 57 0 0 45 16 26.2295 NUP85 0 genome.wustl.edu 37 17 73230741 73230741 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 73230741 73230741 G A SNP NUP85 ENST00000245544 human ensembl 74_37 +1 known missense c.1625 p.R542H 1.000 pfam_Nucleoporin_Nup85 pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC ENSG00000125450 266 0 0 284 74 20.6704 LLGL2 0 genome.wustl.edu 37 17 73539557 73539557 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 73539557 73539557 A G SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known missense c.50 p.K17R 1.000 prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 129 0 0 115 37 24.3421 ITGB4 0 genome.wustl.edu 37 17 73723340 73723340 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 73723340 73723340 G A SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.145 p.A49T 0.988 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 36 0 0 45 19 29.6875 ITGB4 0 genome.wustl.edu 37 17 73733432 73733432 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 73733432 73733432 C T SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.2020 p.R674W 1.000 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 13 0 0 8 3 27.2727 JMJD6 0 genome.wustl.edu 37 17 74719969 74719969 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 74719969 74719969 G A SNP JMJD6 ENST00000445478 human ensembl 74_37 -1 known silent c.690 p.D230 0.990 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC ENSG00000070495 190 0 0 150 60 28.5714 DNAH17 0 genome.wustl.edu 37 17 76503643 76503643 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 76503643 76503643 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.4469 p.R1490Q 0.998 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 49 0 0 48 17 26.1538 KDM6B 0 genome.wustl.edu 37 17 7749498 7749498 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 7749498 7749498 T C SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known silent c.339 p.L113 0.992 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 55 0 0 46 14 23.3333 CBX8 0 genome.wustl.edu 37 17 77770056 77770056 + Missense_Mutation SNP C C G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 77770056 77770056 C G SNP CBX8 ENST00000269385 human ensembl 74_37 -1 known missense c.172 p.E58Q 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 287 0 0 267 53 16.5625 AZI1 0 genome.wustl.edu 37 17 79173615 79173615 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 79173615 79173615 G A SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known silent c.927 p.G309 0.006 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 158 0 0 149 38 20.3209 ALOX12B 0 genome.wustl.edu 37 17 7976509 7976509 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 7976509 7976509 G A SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.1883 p.T628M 0.002 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 291 0 0 274 107 28.084 ALOX12B 0 genome.wustl.edu 37 17 7980427 7980427 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 7980427 7980427 G A SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.1156 p.R386C 0.992 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 22 0 0 30 10 25 TBCD 0 genome.wustl.edu 37 17 80863898 80863898 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 80863898 80863898 G A SNP TBCD ENST00000355528 human ensembl 74_37 +1 known missense c.1891 p.A631T 0.127 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 22 0 0 24 11 31.4286 METRNL 0 genome.wustl.edu 37 17 81052065 81052065 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 81052065 81052065 G A SNP METRNL ENST00000320095 human ensembl 74_37 +1 known silent c.681 p.L227 0.547 NULL NULL - no_errors METRNL HGNC ENSG00000176845 119 0 0 95 28 22.7642 MYH10 0 genome.wustl.edu 37 17 8409646 8409646 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 8409646 8409646 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.3346 p.A1116T 1.000 pfam_Myosin_tail,superfamily_HR1_rho-bd 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 111 1 0.892857 113 37 24.6667 MFSD6L 0 genome.wustl.edu 37 17 8701914 8701914 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 8701914 8701914 G A SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known silent c.525 p.S175 0.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 144 0 0 143 35 19.6629 GLP2R 0 genome.wustl.edu 37 17 9760756 9760756 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 9760756 9760756 C T SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known missense c.628 p.R210C 0.991 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-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_secretin-like - no_errors GLP2R HGNC ENSG00000065325 73 0 0 64 19 22.8916 RIOK3 0 genome.wustl.edu 37 18 21056996 21056996 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 21056996 21056996 T C SNP RIOK3 ENST00000339486 human ensembl 74_37 +1 known silent c.1200 p.C400 0.871 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC ENSG00000101782 56 0 0 54 12 18.1818 NPC1 0 genome.wustl.edu 37 18 21112182 21112182 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 21112182 21112182 C T SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known missense c.3821 p.R1274Q 0.988 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 195 0 0 216 58 21.1679 DSC3 0 genome.wustl.edu 37 18 28612232 28612232 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 28612232 28612232 C T SNP DSC3 ENST00000360428 human ensembl 74_37 -1 known missense c.80 p.R27H 0.196 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC3 HGNC ENSG00000134762 72 0 0 85 26 23.4234 KLHL14 0 genome.wustl.edu 37 18 30275442 30275442 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 30275442 30275442 G A SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known silent c.1143 p.D381 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 32 0 0 53 13 19.697 ASXL3 0 genome.wustl.edu 37 18 31323088 31323088 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 31323088 31323088 G T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.3276 p.E1092D 0.934 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 51 0 0 64 16 20 MOCOS 0 genome.wustl.edu 37 18 33836881 33836881 + RNA SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 33836881 33836881 C T SNP MOCOS ENST00000588132 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors MOCOS HGNC ENSG00000075643 117 0 0 150 41 21.466 SLC14A2 0 genome.wustl.edu 37 18 43262376 43262376 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 43262376 43262376 G A SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known silent c.2655 p.P885 0.011 NULL pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 280 0 0 292 136 31.7757 EPG5 0 genome.wustl.edu 37 18 43446800 43446800 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 43446800 43446800 G A SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.6584 p.A2195V 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 251 0 0 313 82 20.7595 TCEB3CL2 0 genome.wustl.edu 37 18 44543289 44543289 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 44543289 44543289 C T SNP TCEB3CL2 ENST00000591973 human ensembl 74_37 -1 known silent c.1083 p.S361 0.001 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL2 HGNC ENSG00000266996 524 0 0 614 65 9.5729 TCEB3B 0 genome.wustl.edu 37 18 44561181 44561181 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 44561181 44561181 C A SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.455 p.R152I 0.001 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 166 1 0.598802 150 55 26.8293 MYO5B 0 genome.wustl.edu 37 18 47390531 47390531 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 47390531 47390531 G A SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known nonsense c.3823 p.R1275* 0.382 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 64 0 0 80 28 25.9259 CCDC11 0 genome.wustl.edu 37 18 47778135 47778135 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 47778135 47778135 G A SNP CCDC11 ENST00000398545 human ensembl 74_37 -1 known missense c.493 p.R165C 1.000 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 314 0 0 312 124 28.4404 ALPK2 0 genome.wustl.edu 37 18 56204716 56204716 + Silent SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 56204716 56204716 T G SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known silent c.2703 p.T901 0.001 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 54 0 0 72 23 24.2105 CPLX4 0 genome.wustl.edu 37 18 56963955 56963955 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 56963955 56963955 G A SNP CPLX4 ENST00000299721 human ensembl 74_37 -1 known missense c.458 p.A153V 1.000 NULL pfam_Synaphin - no_errors CPLX4 HGNC ENSG00000166569 41 0 0 63 29 31.5217 CDH20 0 genome.wustl.edu 37 18 59221671 59221671 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 59221671 59221671 G A SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.2149 p.A717T 0.715 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 29 0 0 55 20 26.6667 PHLPP1 0 genome.wustl.edu 37 18 60646006 60646006 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 60646006 60646006 C T SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.4496 p.P1499L 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 26 0 0 25 7 21.875 SOCS6 0 genome.wustl.edu 37 18 67992102 67992102 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 67992102 67992102 C T SNP SOCS6 ENST00000397942 human ensembl 74_37 +1 known silent c.198 p.N66 0.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 137 0 0 124 28 18.4211 SALL3 0 genome.wustl.edu 37 18 76752289 76752289 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 76752289 76752289 G A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.298 p.A100T 0.930 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 14 0 0 17 6 26.087 ATP9B 0 genome.wustl.edu 37 18 77067118 77067118 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 77067118 77067118 A G SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.1657 p.N553D 1.000 pfam_HAD-like_dom,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 ATP9B HGNC ENSG00000166377 142 0 0 131 37 22.0238 CTDP1 0 genome.wustl.edu 37 18 77477825 77477825 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 77477825 77477825 G A SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known silent c.2226 p.A742 0.001 pfam_FCP1_C 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 95 0 0 108 7 6.08696 PTPRM 0 genome.wustl.edu 37 18 8379271 8379271 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 8379271 8379271 G T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.3722 p.R1241L 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 109 0 0 100 19 15.9664 COL5A3 0 genome.wustl.edu 37 19 10076989 10076989 + Splice_Site SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 10076989 10076989 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known splice_site c.4782+1 e64+1 0.999 - - - no_errors COL5A3 HGNC ENSG00000080573 72 0 0 79 9 10.2273 ABCA7 0 genome.wustl.edu 37 19 1048922 1048922 + Missense_Mutation SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 1048922 1048922 T A SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.2298 p.N766K 0.999 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 24 0 0 14 6 30 ILF3 0 genome.wustl.edu 37 19 10793817 10793817 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 10793817 10793817 G T SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known missense c.1565 p.G522V 1.000 NULL pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors ILF3 HGNC ENSG00000129351 173 0 0 89 79 47.0238 ILF3 0 genome.wustl.edu 37 19 10798154 10798154 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 10798154 10798154 C A SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known missense c.2204 p.A735D 0.029 NULL pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors ILF3 HGNC ENSG00000129351 27 0 0 26 18 40.9091 HMHA1 0 genome.wustl.edu 37 19 1085684 1085684 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 1085684 1085684 G A SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known silent c.3090 p.S1030 0.004 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 16 0 0 8 8 50 C19orf80 0 genome.wustl.edu 37 19 11350389 11350389 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 11350389 11350389 G A SNP C19orf80 ENST00000252453 human ensembl 74_37 +1 known missense c.76 p.G26S 0.000 NULL NULL - no_errors C19orf80 HGNC ENSG00000130173 51 0 0 29 24 45.283 ZNF440 0 genome.wustl.edu 37 19 11943257 11943257 + Silent SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 11943257 11943257 A G SNP ZNF440 ENST00000304060 human ensembl 74_37 +1 known silent c.1266 p.K422 0.987 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 ZNF440 HGNC ENSG00000171295 100 0 0 186 33 15.0685 ZNF440 0 genome.wustl.edu 37 19 11943260 11943260 + Silent SNP G G C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 11943260 11943260 G C SNP ZNF440 ENST00000304060 human ensembl 74_37 +1 known silent c.1269 p.P423 0.026 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 ZNF440 HGNC ENSG00000171295 99 0 0 168 34 16.8317 ZNF440 0 genome.wustl.edu 37 19 11943270 11943270 + Missense_Mutation SNP A A C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 11943270 11943270 A C SNP ZNF440 ENST00000304060 human ensembl 74_37 +1 known missense c.1279 p.K427Q 0.075 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 ZNF440 HGNC ENSG00000171295 91 0 0 169 33 16.3366 ZNF440 0 genome.wustl.edu 37 19 11943295 11943295 + Missense_Mutation SNP A A C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 11943295 11943295 A C SNP ZNF440 ENST00000304060 human ensembl 74_37 +1 known missense c.1304 p.Y435S 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF440 HGNC ENSG00000171295 74 0 0 164 32 16.3265 ZNF440 0 genome.wustl.edu 37 19 11943375 11943375 + Missense_Mutation SNP A A C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 11943375 11943375 A C SNP ZNF440 ENST00000304060 human ensembl 74_37 +1 known missense c.1384 p.I462L 0.005 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 ZNF440 HGNC ENSG00000171295 80 0 0 117 8 6.4 ZNF69 0 genome.wustl.edu 37 19 12016354 12016354 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 12016354 12016354 C T SNP ZNF69 ENST00000429654 human ensembl 74_37 +1 known missense c.1142 p.T381I 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF69 HGNC ENSG00000198429 79 0 0 56 56 50 ZNF69 0 genome.wustl.edu 37 19 12016481 12016481 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 12016481 12016481 G A SNP ZNF69 ENST00000429654 human ensembl 74_37 +1 known silent c.1269 p.K423 0.245 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 ZNF69 HGNC ENSG00000198429 77 0 0 77 26 25.2427 ZNF69 0 genome.wustl.edu 37 19 12016494 12016494 + Missense_Mutation SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 12016494 12016494 T G SNP ZNF69 ENST00000429654 human ensembl 74_37 +1 known missense c.1282 p.S428A 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 ZNF69 HGNC ENSG00000198429 78 0 0 82 29 26.1261 ZNF69 0 genome.wustl.edu 37 19 12016507 12016507 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 12016507 12016507 A G SNP ZNF69 ENST00000429654 human ensembl 74_37 +1 known missense c.1295 p.Q432R 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 ZNF69 HGNC ENSG00000198429 81 0 0 78 30 27.7778 ZNF69 0 genome.wustl.edu 37 19 12016509 12016509 + Missense_Mutation SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 12016509 12016509 T G SNP ZNF69 ENST00000429654 human ensembl 74_37 +1 known missense c.1297 p.L433V 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 ZNF69 HGNC ENSG00000198429 81 0 0 75 30 28.5714 ZNF69 0 genome.wustl.edu 37 19 12016578 12016578 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 12016578 12016578 A G SNP ZNF69 ENST00000429654 human ensembl 74_37 +1 known missense c.1366 p.M456V 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 ZNF69 HGNC ENSG00000198429 68 0 0 78 45 36.5854 ZNF69 0 genome.wustl.edu 37 19 12016583 12016583 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 12016583 12016583 G T SNP ZNF69 ENST00000429654 human ensembl 74_37 +1 known missense c.1371 p.K457N 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 ZNF69 HGNC ENSG00000198429 65 0 0 77 48 38.4 ZNF69 0 genome.wustl.edu 37 19 12016642 12016642 + Missense_Mutation SNP C C G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 12016642 12016642 C G SNP ZNF69 ENST00000429654 human ensembl 74_37 +1 known missense c.1430 p.P477R 0.858 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 ZNF69 HGNC ENSG00000198429 58 0 0 61 44 41.9048 IER2 0 genome.wustl.edu 37 19 13264528 13264528 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 13264528 13264528 C T SNP IER2 ENST00000292433 human ensembl 74_37 +1 known silent c.528 p.R176 0.985 pfam_IER pfam_IER - no_errors IER2 HGNC ENSG00000160888 39 0 0 22 26 54.1667 APC2 0 genome.wustl.edu 37 19 1455462 1455462 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 1455462 1455462 G A SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.602 p.R201H 1.000 pfam_APC_dom 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 10 0 0 0 11 100 NOTCH3 0 genome.wustl.edu 37 19 15302604 15302604 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 15302604 15302604 C T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.754 p.V252M 1.000 pirsf_Notch,pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,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_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 59 0 0 32 40 55.5556 ZNF100 0 genome.wustl.edu 37 19 21909815 21909815 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 21909815 21909815 T C SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known silent c.1299 p.E433 0.300 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 ZNF100 HGNC ENSG00000197020 166 0 0 276 29 9.5082 URI1 0 genome.wustl.edu 37 19 30505891 30505891 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 30505891 30505891 G A SNP URI1 ENST00000542441 human ensembl 74_37 +1 known missense c.1523 p.R508Q 0.998 NULL pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 191 0 0 275 95 25.6757 PEPD 0 genome.wustl.edu 37 19 33968993 33968993 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 33968993 33968993 G A SNP PEPD ENST00000244137 human ensembl 74_37 -1 known silent c.507 p.F169 0.995 NULL pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC ENSG00000124299 21 0 0 15 4 21.0526 PEPD 0 genome.wustl.edu 37 19 33980958 33980958 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 33980958 33980958 G A SNP PEPD ENST00000244137 human ensembl 74_37 -1 known silent c.447 p.G149 0.828 pfam_Aminopep_P_N pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC ENSG00000124299 22 0 0 24 13 35.1351 MAG 0 genome.wustl.edu 37 19 35801452 35801452 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 35801452 35801452 C T SNP MAG ENST00000392213 human ensembl 74_37 +1 known nonsense c.1522 p.R508* 0.991 NULL 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 67 0 0 68 17 20 FFAR1 0 genome.wustl.edu 37 19 35842942 35842942 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 35842942 35842942 C T SNP FFAR1 ENST00000246553 human ensembl 74_37 +1 known missense c.488 p.P163L 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR40_recept_FA pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR40_recept_FA,prints_GPR40-rel_orph,prints_GPCR_Rhodpsn - no_errors FFAR1 HGNC ENSG00000126266 90 0 0 79 21 21 KMT2B 0 genome.wustl.edu 37 19 36229028 36229028 + Missense_Mutation SNP A A C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 36229028 36229028 A C SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.7808 p.E2603A 1.000 pirsf_MeTrfase_trithorax,pfam_SET_dom,smart_SET_dom,pfscan_SET_dom 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_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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 64 0 0 47 15 24.1935 LRFN3 0 genome.wustl.edu 37 19 36430659 36430659 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 36430659 36430659 C T SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.332 p.A111V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 47 0 0 35 17 32.6923 ZNF461 0 genome.wustl.edu 37 19 37130820 37130820 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 37130820 37130820 C T SNP ZNF461 ENST00000588268 human ensembl 74_37 -1 known missense c.427 p.A143T 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 ZNF461 HGNC ENSG00000197808 336 0 0 317 78 19.7468 ZNF793 0 genome.wustl.edu 37 19 38027882 38027882 + Missense_Mutation SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 38027882 38027882 T A SNP ZNF793 ENST00000445217 human ensembl 74_37 +1 known missense c.322 p.L108M 0.002 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 ZNF793 HGNC ENSG00000188227 56 0 0 36 13 26.5306 SPINT2 0 genome.wustl.edu 37 19 38780920 38780920 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 38780920 38780920 C T SNP SPINT2 ENST00000301244 human ensembl 74_37 +1 known missense c.553 p.R185C 0.877 NULL pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT2 HGNC ENSG00000167642 23 0 0 38 12 24 RYR1 0 genome.wustl.edu 37 19 38980003 38980003 + Nonsense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 38980003 38980003 G T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known nonsense c.5734 p.E1912* 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 99 0 0 91 24 20.8696 LRFN1 0 genome.wustl.edu 37 19 39805733 39805733 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 39805733 39805733 G A SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known missense c.244 p.R82C 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 12 0 0 4 4 50 SUPT5H 0 genome.wustl.edu 37 19 39961140 39961140 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 39961140 39961140 C T SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known nonsense c.1654 p.R552* 1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 346 0 0 313 91 22.5248 DLL3 0 genome.wustl.edu 37 19 39995921 39995921 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 39995921 39995921 G A SNP DLL3 ENST00000205143 human ensembl 74_37 +1 known missense c.923 p.R308Q 0.986 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLL3 HGNC ENSG00000090932 148 1 0.671141 167 49 22.6852 FCGBP 0 genome.wustl.edu 37 19 40384036 40384036 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 40384036 40384036 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.9574 p.A3192T 0.000 pfam_TIL_dom,superfamily_TIL_dom,smart_EG-like_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 156 0 0 170 12 6.59341 MAP3K10 0 genome.wustl.edu 37 19 40710471 40710471 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 40710471 40710471 G A SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known missense c.943 p.V315M 1.000 pirsf_MAPKKK9/10/11,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_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 81 0 0 100 14 12.2807 HIPK4 0 genome.wustl.edu 37 19 40887032 40887032 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 40887032 40887032 T C SNP HIPK4 ENST00000291823 human ensembl 74_37 -1 known missense c.866 p.D289G 1.000 pfam_Prot_kinase_dom,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 HIPK4 HGNC ENSG00000160396 73 0 0 98 6 5.76923 PRX 0 genome.wustl.edu 37 19 40901531 40901531 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 40901531 40901531 C T SNP PRX ENST00000324001 human ensembl 74_37 -1 known missense c.2728 p.A910T 0.190 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 111 0 0 117 34 22.5166 SHKBP1 0 genome.wustl.edu 37 19 41094670 41094670 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 41094670 41094670 G A SNP SHKBP1 ENST00000291842 human ensembl 74_37 +1 known missense c.1477 p.A493T 1.000 superfamily_WD40_repeat_dom pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors SHKBP1 HGNC ENSG00000160410 47 0 0 47 19 28.7879 HNRNPUL1 0 genome.wustl.edu 37 19 41782099 41782099 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 41782099 41782099 C T SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known missense c.682 p.R228W 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_dom,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 HNRNPUL1 HGNC ENSG00000105323 169 0 0 196 47 19.3416 B3GNT8 0 genome.wustl.edu 37 19 41931674 41931674 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 41931674 41931674 G A SNP B3GNT8 ENST00000321702 human ensembl 74_37 -1 known missense c.1010 p.T337I 0.949 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT8 HGNC ENSG00000177191 95 0 0 126 32 20.2532 SHC2 0 genome.wustl.edu 37 19 422256 422256 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 422256 422256 C T SNP SHC2 ENST00000264554 human ensembl 74_37 -1 known missense c.1510 p.D504N 0.999 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC2 HGNC ENSG00000129946 23 0 0 17 19 52.7778 ATP1A3 0 genome.wustl.edu 37 19 42486241 42486241 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 42486241 42486241 G A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known silent c.1011 p.T337 0.001 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase 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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 223 0 0 185 60 24.4898 CEACAM1 0 genome.wustl.edu 37 19 43023168 43023168 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 43023168 43023168 G A SNP CEACAM1 ENST00000161559 human ensembl 74_37 -1 known missense c.1178 p.T393M 0.000 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM1 HGNC ENSG00000079385 136 0 0 145 51 26.0204 PSG3 0 genome.wustl.edu 37 19 43233450 43233450 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 43233450 43233450 C T SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known silent c.1068 p.A356 0.001 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 268 0 0 335 105 23.8636 CLASRP 0 genome.wustl.edu 37 19 45556099 45556099 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 45556099 45556099 G A SNP CLASRP ENST00000221455 human ensembl 74_37 +1 known missense c.248 p.R83H 0.987 pfam_SWAP_N_domain pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 84 0 0 103 33 24.2647 ERCC2 0 genome.wustl.edu 37 19 45867584 45867584 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 45867584 45867584 C T SNP ERCC2 ENST00000391945 human ensembl 74_37 -1 known missense c.724 p.V242I 1.000 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 49 0 0 47 14 22.9508 FBXO46 0 genome.wustl.edu 37 19 46215641 46215641 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 46215641 46215641 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known silent c.1113 p.T371 0.027 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 71 0 0 72 30 29.4118 FBXO46 0 genome.wustl.edu 37 19 46215859 46215859 + Silent SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 46215859 46215859 G T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known silent c.895 p.R299 0.824 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 13 0 0 17 13 43.3333 RSPH6A 0 genome.wustl.edu 37 19 46314009 46314009 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 46314009 46314009 G A SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known missense c.740 p.T247M 0.363 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 77 0 0 91 26 22.2222 CCDC8 0 genome.wustl.edu 37 19 46915101 46915101 + Missense_Mutation SNP C C G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 46915101 46915101 C G SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known missense c.967 p.A323P 0.016 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 257 2 0.772201 264 76 22.3529 PNMAL1 0 genome.wustl.edu 37 19 46973245 46973245 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 46973245 46973245 C T SNP PNMAL1 ENST00000313683 human ensembl 74_37 -1 known missense c.1048 p.V350M 0.005 NULL NULL - no_errors PNMAL1 HGNC ENSG00000182013 463 0 0 437 140 24.2634 BBC3 0 genome.wustl.edu 37 19 47725009 47725009 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 47725009 47725009 G A SNP BBC3 ENST00000449228 human ensembl 74_37 -1 known silent c.735 p.L245 0.991 NULL NULL - no_errors BBC3 HGNC ENSG00000105327 25 0 0 25 7 21.875 GLTSCR1 0 genome.wustl.edu 37 19 48201924 48201924 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 48201924 48201924 C T SNP GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known silent c.3282 p.S1094 0.919 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 76 0 0 67 17 20.2381 PLEKHA4 0 genome.wustl.edu 37 19 49340665 49340665 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 49340665 49340665 G A SNP PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known missense c.2221 p.R741C 0.044 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 75 0 0 51 26 33.7662 NUCB1 0 genome.wustl.edu 37 19 49404120 49404120 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 49404120 49404120 G A SNP NUCB1 ENST00000263273 human ensembl 74_37 +1 known missense c.67 p.A23T 0.010 NULL pfscan_EF_hand_dom - no_errors NUCB1 HGNC ENSG00000104805 78 0 0 71 30 29.703 DHDH 0 genome.wustl.edu 37 19 49439393 49439393 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 49439393 49439393 G A SNP DHDH ENST00000221403 human ensembl 74_37 +1 known missense c.307 p.A103T 0.035 pfam_Oxidoreductase_N pfam_Oxidoreductase_N - no_errors DHDH HGNC ENSG00000104808 34 0 0 21 3 12.5 NUP62 0 genome.wustl.edu 37 19 50412220 50412220 + Missense_Mutation SNP G G C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 50412220 50412220 G C SNP NUP62 ENST00000352066 human ensembl 74_37 -1 known missense c.845 p.T282S 0.021 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 69 0 0 75 27 26.4706 ENSG00000269388 0 genome.wustl.edu 37 19 52104519 52104519 + RNA SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 52104519 52104519 C A SNP ENSG00000269388 ENST00000598755 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC018755.16 Clone_based_vega_gene ENSG00000269388 11 0 0 12 6 33.3333 SIGLEC5 0 genome.wustl.edu 37 19 52115550 52115550 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 52115550 52115550 C T SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known silent c.1590 p.S530 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 156 0 0 205 68 24.9084 ZNF616 0 genome.wustl.edu 37 19 52618938 52618938 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 52618938 52618938 G A SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known silent c.1479 p.Y493 0.064 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 124 0 0 165 28 14.5078 ZNF616 0 genome.wustl.edu 37 19 52618943 52618943 + Missense_Mutation SNP G G C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 52618943 52618943 G C SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.1474 p.P492A 0.566 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 119 0 0 158 18 10.2273 ZNF616 0 genome.wustl.edu 37 19 52619001 52619001 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 52619001 52619001 T C SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known silent c.1416 p.K472 0.180 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 110 0 0 169 10 5.58659 ZNF880 0 genome.wustl.edu 37 19 52888041 52888041 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 52888041 52888041 C T SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known missense c.1208 p.T403M 0.994 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 ZNF880 HGNC ENSG00000221923 45 0 0 35 15 30 LILRB2 0 genome.wustl.edu 37 19 54783692 54783692 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 54783692 54783692 G A SNP LILRB2 ENST00000391749 human ensembl 74_37 -1 known silent c.309 p.R103 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB2 HGNC ENSG00000131042 161 0 0 176 51 22.467 KIR3DX1 0 genome.wustl.edu 37 19 55046705 55046705 + RNA SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 55046705 55046705 C T SNP KIR3DX1 ENST00000482404 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KIR3DX1 HGNC ENSG00000104970 44 0 0 31 8 20.5128 LILRB4 0 genome.wustl.edu 37 19 55177749 55177749 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 55177749 55177749 C T SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known silent c.933 p.D311 0.022 NULL pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 94 0 0 93 11 10.5769 KIR2DL1 0 genome.wustl.edu 37 19 55286823 55286823 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 55286823 55286823 G A SNP KIR2DL1 ENST00000336077 human ensembl 74_37 +1 known missense c.577 p.G193R 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC ENSG00000125498 262 0 0 290 87 23.0769 ZNF579 0 genome.wustl.edu 37 19 56090051 56090051 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 56090051 56090051 C T SNP ZNF579 ENST00000325421 human ensembl 74_37 -1 known missense c.955 p.V319I 0.991 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF579 HGNC ENSG00000218891 25 0 0 35 6 14.6341 FIZ1 0 genome.wustl.edu 37 19 56104559 56104559 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 56104559 56104559 G A SNP FIZ1 ENST00000221665 human ensembl 74_37 -1 known missense c.748 p.H250Y 0.928 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FIZ1 HGNC ENSG00000179943 16 0 0 9 6 40 NLRP5 0 genome.wustl.edu 37 19 56538862 56538862 + Silent SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 56538862 56538862 C A SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known silent c.1263 p.V421 0.000 NULL 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 NLRP5 HGNC ENSG00000171487 29 0 0 36 9 20 ZSCAN5C 0 genome.wustl.edu 37 19 56717414 56717414 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 56717414 56717414 C T SNP ZSCAN5C ENST00000376267 human ensembl 74_37 +1 known silent c.132 p.H44 0.001 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN 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 ZSCAN5C HGNC ENSG00000204532 42 0 0 55 25 31.25 ZNF71 0 genome.wustl.edu 37 19 57133352 57133352 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 57133352 57133352 G A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.697 p.E233K 0.032 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 60 0 0 80 22 21.5686 CATSPERD 0 genome.wustl.edu 37 19 5745968 5745968 + Silent SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 5745968 5745968 G T SNP CATSPERD ENST00000381624 human ensembl 74_37 +1 known silent c.702 p.G234 0.062 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 375 0 0 420 23 5.19187 USP29 0 genome.wustl.edu 37 19 57642249 57642249 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 57642249 57642249 C A SNP USP29 ENST00000254181 human ensembl 74_37 +1 known missense c.2206 p.Q736K 0.001 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 105 0 0 102 43 29.6552 ZNF543 0 genome.wustl.edu 37 19 57839291 57839291 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 57839291 57839291 G A SNP ZNF543 ENST00000321545 human ensembl 74_37 +1 known missense c.461 p.R154H 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 ZNF543 HGNC ENSG00000178229 108 0 0 107 28 20.7407 ZNF211 0 genome.wustl.edu 37 19 58153212 58153212 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 58153212 58153212 A G SNP ZNF211 ENST00000240731 human ensembl 74_37 +1 known missense c.1397 p.Y466C 0.099 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 ZNF211 HGNC ENSG00000121417 101 0 0 132 39 22.807 ZSCAN4 0 genome.wustl.edu 37 19 58189782 58189782 + Nonsense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 58189782 58189782 G T SNP ZSCAN4 ENST00000318203 human ensembl 74_37 +1 known nonsense c.811 p.G271* 0.000 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 99 0 0 105 32 23.3577 C19orf18 0 genome.wustl.edu 37 19 58483842 58483842 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 58483842 58483842 A G SNP C19orf18 ENST00000314391 human ensembl 74_37 -1 known missense c.257 p.L86P 0.000 NULL NULL - no_errors C19orf18 HGNC ENSG00000177025 54 0 0 46 6 11.5385 SLC27A5 0 genome.wustl.edu 37 19 59011987 59011987 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 59011987 59011987 G A SNP SLC27A5 ENST00000263093 human ensembl 74_37 -1 known silent c.1269 p.F423 0.753 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 97 0 0 88 31 26.0504 SLC27A5 0 genome.wustl.edu 37 19 59022708 59022708 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 59022708 59022708 G T SNP SLC27A5 ENST00000263093 human ensembl 74_37 -1 known missense c.615 p.N205K 0.948 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 22 0 0 19 6 24 RANBP3 0 genome.wustl.edu 37 19 5933443 5933443 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 5933443 5933443 C T SNP RANBP3 ENST00000340578 human ensembl 74_37 -1 known missense c.454 p.G152S 1.000 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 64 0 0 37 37 50 CD209 0 genome.wustl.edu 37 19 7810788 7810788 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 7810788 7810788 C T SNP CD209 ENST00000315599 human ensembl 74_37 -1 known missense c.364 p.E122K 0.018 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CD209 HGNC ENSG00000090659 256 0 0 183 142 43.6923 MUC16 0 genome.wustl.edu 37 19 9019283 9019283 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 9019283 9019283 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.37604 p.S12535N 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 24 0 0 40 11 21.5686 MUC16 0 genome.wustl.edu 37 19 9056926 9056926 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 9056926 9056926 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.30520 p.M10174V 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 15 0 0 54 49 47.5728 MUC16 0 genome.wustl.edu 37 19 9061718 9061718 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 9061718 9061718 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.25728 p.F8576 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 15 0 0 53 21 28.3784 LONRF2 0 genome.wustl.edu 37 2 100916228 100916228 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 100916228 100916228 G A SNP LONRF2 ENST00000393437 human ensembl 74_37 -1 known silent c.1218 p.D406 0.000 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC ENSG00000170500 120 1 0.826446 131 21 13.8158 CNOT11 0 genome.wustl.edu 37 2 101885796 101885796 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 101885796 101885796 G A SNP CNOT11 ENST00000289382 human ensembl 74_37 +1 known missense c.1454 p.R485Q 1.000 pfam_DUF2363 pfam_DUF2363 - no_errors CNOT11 HGNC ENSG00000158435 122 0 0 102 37 26.6187 EN1 0 genome.wustl.edu 37 2 119600627 119600627 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 119600627 119600627 C T SNP EN1 ENST00000295206 human ensembl 74_37 -1 known missense c.1066 p.A356T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4 - no_errors EN1 HGNC ENSG00000163064 67 0 0 53 21 28.3784 SNTG2 0 genome.wustl.edu 37 2 1263213 1263213 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 1263213 1263213 G A SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known silent c.1077 p.K359 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 83 0 0 63 13 17.1053 WDR33 0 genome.wustl.edu 37 2 128476878 128476878 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 128476878 128476878 C T SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known silent c.2721 p.T907 0.998 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 289 0 0 283 44 13.4557 WDR33 0 genome.wustl.edu 37 2 128476952 128476952 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 128476952 128476952 G A SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known missense c.2647 p.P883S 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 227 0 0 197 56 22.1344 AMER3 0 genome.wustl.edu 37 2 131521965 131521965 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 131521965 131521965 C T SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known missense c.2320 p.P774S 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 41 0 0 33 12 26.6667 NCKAP5 0 genome.wustl.edu 37 2 133483297 133483297 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 133483297 133483297 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.5616 p.S1872 0.732 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 24 0 0 25 8 24.2424 TMEM163 0 genome.wustl.edu 37 2 135215680 135215680 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 135215680 135215680 C T SNP TMEM163 ENST00000281924 human ensembl 74_37 -1 known silent c.732 p.K244 1.000 NULL NULL - no_errors TMEM163 HGNC ENSG00000152128 148 0 0 141 41 22.5275 LRP1B 0 genome.wustl.edu 37 2 141201956 141201956 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 141201956 141201956 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10237 p.N3413D 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 106 0 0 163 46 22.0096 LRP1B 0 genome.wustl.edu 37 2 141660492 141660492 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 141660492 141660492 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.3763 p.V1255I 1.000 NULL 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 50 0 0 105 23 17.9688 CACNB4 0 genome.wustl.edu 37 2 152739824 152739824 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 152739824 152739824 G A SNP CACNB4 ENST00000539935 human ensembl 74_37 -1 known missense c.208 p.R70W 0.810 pfam_VDCC_L_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 136 0 0 157 31 16.4894 TANC1 0 genome.wustl.edu 37 2 160025864 160025864 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 160025864 160025864 T C SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known silent c.1050 p.G350 0.987 NULL 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 TANC1 HGNC ENSG00000115183 119 0 0 118 55 31.7919 TBR1 0 genome.wustl.edu 37 2 162280585 162280585 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 162280585 162280585 C T SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known silent c.1896 p.Y632 1.000 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 TBR1 HGNC ENSG00000136535 17 0 0 18 11 37.931 COBLL1 0 genome.wustl.edu 37 2 165600195 165600195 + Splice_Site SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 165600195 165600195 A G SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known splice_site c.389+2 e4+2 1.000 - - - no_errors COBLL1 HGNC ENSG00000082438 22 0 0 73 32 30.4762 LRP2 0 genome.wustl.edu 37 2 170042445 170042445 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 170042445 170042445 C A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.9413 p.R3138L 0.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom 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 92 0 0 117 46 28.2209 GORASP2 0 genome.wustl.edu 37 2 171822463 171822463 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 171822463 171822463 C T SNP GORASP2 ENST00000452526 human ensembl 74_37 +1 known silent c.1218 p.P406 0.086 NULL pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP2 HGNC ENSG00000115806 88 0 0 100 32 24.2424 CDCA7 0 genome.wustl.edu 37 2 174229538 174229538 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 174229538 174229538 C T SNP CDCA7 ENST00000306721 human ensembl 74_37 +1 known nonsense c.715 p.R239* 0.001 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7 HGNC ENSG00000144354 104 0 0 146 11 7.00637 HOXD9 0 genome.wustl.edu 37 2 176987559 176987559 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 176987559 176987559 C T SNP HOXD9 ENST00000249499 human ensembl 74_37 +1 known silent c.63 p.Y21 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD9 HGNC ENSG00000128709 32 0 0 27 9 25 PDE11A 0 genome.wustl.edu 37 2 178740634 178740634 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 178740634 178740634 T C SNP PDE11A ENST00000286063 human ensembl 74_37 -1 known missense c.1319 p.K440R 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 61 0 0 109 6 5.21739 TTN 0 genome.wustl.edu 37 2 179443547 179443547 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 179443547 179443547 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.60506 p.A20169V 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,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 18 0 0 118 37 23.871 TTN 0 genome.wustl.edu 37 2 179474816 179474816 + Splice_Site SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 179474816 179474816 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known splice_site c.43732+1 e219+1 1.000 - - - no_errors TTN HGNC ENSG00000155657 10 0 0 84 29 25.6637 TTN 0 genome.wustl.edu 37 2 179576715 179576715 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 179576715 179576715 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.24110 p.N8037S 1.000 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 47 0 0 87 21 19.4444 TTN 0 genome.wustl.edu 37 2 179580340 179580340 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 179580340 179580340 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.22069 p.V7357I 0.373 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,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 19 0 0 36 24 40 ITGA4 0 genome.wustl.edu 37 2 182323028 182323028 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 182323028 182323028 C T SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known silent c.303 p.C101 0.971 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 19 0 0 25 5 16.6667 STK17B 0 genome.wustl.edu 37 2 197002360 197002360 + Silent SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 197002360 197002360 G T SNP STK17B ENST00000263955 human ensembl 74_37 -1 known silent c.930 p.S310 0.609 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 STK17B HGNC ENSG00000081320 110 0 0 149 8 5.09554 HECW2 0 genome.wustl.edu 37 2 197183855 197183855 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 197183855 197183855 C T SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.1759 p.A587T 0.069 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 36 0 0 51 12 19.0476 SGOL2 0 genome.wustl.edu 37 2 201437347 201437347 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 201437347 201437347 G T SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known missense c.2278 p.D760Y 0.000 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 91 0 0 132 29 18.0124 CASP8 0 genome.wustl.edu 37 2 202149917 202149917 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 202149917 202149917 C T SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known missense c.1358 p.P453L 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 85 0 0 92 29 23.9669 HS1BP3 0 genome.wustl.edu 37 2 20845204 20845204 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 20845204 20845204 C A SNP HS1BP3 ENST00000304031 human ensembl 74_37 -1 known missense c.94 p.G32C 1.000 superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors HS1BP3 HGNC ENSG00000118960 109 0 0 99 37 27.2059 APOB 0 genome.wustl.edu 37 2 21228330 21228330 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 21228330 21228330 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.11410 p.E3804K 0.929 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 135 0 0 274 84 23.4637 APOB 0 genome.wustl.edu 37 2 21228376 21228376 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 21228376 21228376 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.11364 p.E3788 0.991 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 109 0 0 248 90 26.6272 APOB 0 genome.wustl.edu 37 2 21265342 21265342 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 21265342 21265342 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.128 p.A43V 0.891 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 97 0 0 101 41 28.8732 SPAG16 0 genome.wustl.edu 37 2 214878701 214878701 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 214878701 214878701 G A SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known missense c.1427 p.G476E 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,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 SPAG16 HGNC ENSG00000144451 79 0 0 182 55 23.2068 ABCA12 0 genome.wustl.edu 37 2 215839522 215839522 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 215839522 215839522 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.5448 p.M1816I 0.024 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 100 0 0 117 38 24.5161 MREG 0 genome.wustl.edu 37 2 216809613 216809613 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 216809613 216809613 C T SNP MREG ENST00000263268 human ensembl 74_37 -1 known silent c.618 p.L206 0.001 NULL NULL - no_errors MREG HGNC ENSG00000118242 53 0 0 59 15 20.2703 IGFBP5 0 genome.wustl.edu 37 2 217559282 217559282 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 217559282 217559282 G A SNP IGFBP5 ENST00000233813 human ensembl 74_37 -1 known missense c.217 p.R73C 0.995 pfam_IGFBP-like,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,prints_IGFBP_1-6_chordata pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-5 - no_errors IGFBP5 HGNC ENSG00000115461 10 0 0 6 3 33.3333 RNF25 0 genome.wustl.edu 37 2 219532655 219532655 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 219532655 219532655 T C SNP RNF25 ENST00000295704 human ensembl 74_37 -1 known missense c.337 p.M113V 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF25 HGNC ENSG00000163481 169 0 0 207 59 22.1805 CDK5R2 0 genome.wustl.edu 37 2 219825311 219825311 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 219825311 219825311 G A SNP CDK5R2 ENST00000302625 human ensembl 74_37 +1 known missense c.769 p.E257K 1.000 pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R2 HGNC ENSG00000171450 185 1 0.537634 189 61 24.4 PTPRN 0 genome.wustl.edu 37 2 220164503 220164503 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 220164503 220164503 A G SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known missense c.1442 p.L481P 1.000 pfam_Receptor_IA-2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 90 0 0 97 31 24.2188 CHPF 0 genome.wustl.edu 37 2 220404955 220404955 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 220404955 220404955 C T SNP CHPF ENST00000243776 human ensembl 74_37 -1 known missense c.1478 p.R493H 0.997 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 34 0 0 38 9 19.1489 SLC4A3 0 genome.wustl.edu 37 2 220494985 220494985 + Missense_Mutation SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 220494985 220494985 T G SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.803 p.L268R 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 57 0 0 42 9 17.6471 SLC4A3 0 genome.wustl.edu 37 2 220501408 220501408 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 220501408 220501408 C T SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known nonsense c.2428 p.R810* 0.998 pfam_HCO3_transpt_C,prints_Anion_exchange,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 118 0 0 112 26 18.8406 TRIP12 0 genome.wustl.edu 37 2 230725188 230725188 + Missense_Mutation SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 230725188 230725188 T A SNP TRIP12 ENST00000543084 human ensembl 74_37 -1 known missense c.158 p.N53I 1.000 NULL NULL - no_errors TRIP12 HGNC ENSG00000153827 100 1 0.990099 135 41 23.2955 B3GNT7 0 genome.wustl.edu 37 2 232262945 232262945 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 232262945 232262945 G A SNP B3GNT7 ENST00000287590 human ensembl 74_37 +1 known missense c.515 p.R172H 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT7 HGNC ENSG00000156966 34 0 0 43 16 27.1186 TRPM8 0 genome.wustl.edu 37 2 234854587 234854587 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 234854587 234854587 G A SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known missense c.787 p.V263M 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 135 0 0 150 55 26.8293 RNPEPL1 0 genome.wustl.edu 37 2 241517269 241517269 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 241517269 241517269 G A SNP RNPEPL1 ENST00000270357 human ensembl 74_37 +1 known missense c.1445 p.S482N 0.175 NULL pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 22 0 0 22 14 38.8889 GPR35 0 genome.wustl.edu 37 2 241569626 241569626 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 241569626 241569626 C T SNP GPR35 ENST00000438013 human ensembl 74_37 +1 known missense c.350 p.T117M 0.073 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR35 HGNC ENSG00000178623 86 0 0 83 26 23.8532 PTRHD1 0 genome.wustl.edu 37 2 25013338 25013338 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 25013338 25013338 C T SNP PTRHD1 ENST00000328379 human ensembl 74_37 -1 known missense c.365 p.R122Q 0.996 pfam_PTH2,superfamily_Pep_tRNA_hydro_II_dom pfam_PTH2,superfamily_Pep_tRNA_hydro_II_dom - no_errors PTRHD1 HGNC ENSG00000184924 69 0 0 72 25 25.7732 DNMT3A 0 genome.wustl.edu 37 2 25464521 25464521 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 25464521 25464521 C A SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known missense c.1992 p.E664D 1.000 pfam_C5_MeTfrase pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 46 0 0 41 12 22.6415 EMILIN1 0 genome.wustl.edu 37 2 27305168 27305168 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 27305168 27305168 G A SNP EMILIN1 ENST00000380320 human ensembl 74_37 +1 known silent c.729 p.Q243 1.000 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 58 0 0 70 21 23.0769 CAD 0 genome.wustl.edu 37 2 27456970 27456970 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 27456970 27456970 C T SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.3494 p.A1165V 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 76 0 0 70 6 7.89474 PPP1CB 0 genome.wustl.edu 37 2 29022154 29022154 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 29022154 29022154 G A SNP PPP1CB ENST00000296122 human ensembl 74_37 +1 known silent c.969 p.P323 0.991 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CB HGNC ENSG00000213639 62 0 0 93 5 5.10204 NLRC4 0 genome.wustl.edu 37 2 32476488 32476488 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 32476488 32476488 C T SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known missense c.445 p.V149M 0.001 superfamily_P-loop_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 70 0 0 88 27 23.4783 BIRC6 0 genome.wustl.edu 37 2 32824935 32824935 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 32824935 32824935 C T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known nonsense c.13960 p.R4654* 1.000 pfam_UBQ-conjugat_E2,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 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 45 0 0 49 15 23.4375 LTBP1 0 genome.wustl.edu 37 2 33500077 33500077 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 33500077 33500077 G A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.2792 p.R931H 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 145 0 0 170 53 23.7668 SULT6B1 0 genome.wustl.edu 37 2 37414569 37414569 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 37414569 37414569 C A SNP SULT6B1 ENST00000535679 human ensembl 74_37 -1 known missense c.241 p.A81S 0.291 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT6B1 HGNC ENSG00000138068 70 0 0 61 13 17.5676 KIAA1841 0 genome.wustl.edu 37 2 61319641 61319641 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 61319641 61319641 C T SNP KIAA1841 ENST00000356719 human ensembl 74_37 +1 known silent c.1131 p.F377 1.000 pfam_DUF3342 pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC ENSG00000162929 125 0 0 133 37 21.7647 OTX1 0 genome.wustl.edu 37 2 63282962 63282962 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 63282962 63282962 G A SNP OTX1 ENST00000282549 human ensembl 74_37 +1 known silent c.576 p.S192 0.005 pfam_Otx_TF_C,prints_Otx1_TF pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx1_TF,prints_Otx_TF - no_errors OTX1 HGNC ENSG00000115507 23 0 0 23 14 37.8378 ANTXR1 0 genome.wustl.edu 37 2 69271944 69271944 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 69271944 69271944 A G SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.295 p.R99G 1.000 pirsf_Anthrax_toxin_rcpt,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 47 0 0 107 33 23.5714 ADD2 0 genome.wustl.edu 37 2 70905912 70905912 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 70905912 70905912 G A SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.1307 p.T436M 0.990 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 296 0 0 259 91 26 DYSF 0 genome.wustl.edu 37 2 71753393 71753393 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 71753393 71753393 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.1190 p.S397N 1.000 pfam_FerIin-domain,superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 389 0 0 333 97 22.5581 SMYD5 0 genome.wustl.edu 37 2 73452826 73452826 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 73452826 73452826 T C SNP SMYD5 ENST00000389501 human ensembl 74_37 +1 known missense c.1103 p.L368P 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC ENSG00000135632 426 0 0 414 148 26.3345 ALMS1 0 genome.wustl.edu 37 2 73826620 73826620 + Silent SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 73826620 73826620 A G SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.11637 p.V3879 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 214 0 0 239 83 25.7764 C2orf78 0 genome.wustl.edu 37 2 74043233 74043233 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 74043233 74043233 T C SNP C2orf78 ENST00000409561 human ensembl 74_37 +1 novel missense c.1883 p.M628T 0.992 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 82 0 0 79 21 21 ACTG2 0 genome.wustl.edu 37 2 74143792 74143792 + Missense_Mutation SNP C C G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 74143792 74143792 C G SNP ACTG2 ENST00000345517 human ensembl 74_37 +1 known missense c.887 p.A296G 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG2 HGNC ENSG00000163017 64 0 0 79 23 22.549 BOLA3 0 genome.wustl.edu 37 2 74362716 74362716 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 74362716 74362716 G A SNP BOLA3 ENST00000295326 human ensembl 74_37 -1 known missense c.239 p.T80M 0.009 NULL NULL - no_errors BOLA3 HGNC ENSG00000163170 183 1 0.543478 183 57 23.75 AUP1 0 genome.wustl.edu 37 2 74755569 74755569 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 74755569 74755569 T C SNP AUP1 ENST00000377526 human ensembl 74_37 -1 known missense c.572 p.Q191R 0.826 NULL pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC ENSG00000115307 78 0 0 78 24 23.5294 CTNNA2 0 genome.wustl.edu 37 2 80646660 80646660 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 80646660 80646660 C A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.1326 p.S442R 0.983 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 80 0 0 142 42 22.8261 PTCD3 0 genome.wustl.edu 37 2 86352130 86352130 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 86352130 86352130 C T SNP PTCD3 ENST00000409277 human ensembl 74_37 +1 known missense c.605 p.T202M 0.998 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 59 0 0 40 12 23.0769 KDM3A 0 genome.wustl.edu 37 2 86677036 86677036 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 86677036 86677036 A G SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.293 p.E98G 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 56 0 0 169 47 21.7593 FAHD2B 0 genome.wustl.edu 37 2 97751910 97751910 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 97751910 97751910 G A SNP FAHD2B ENST00000272610 human ensembl 74_37 -1 known missense c.488 p.A163V 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2B HGNC ENSG00000144199 31 0 0 30 5 14.2857 VWA3B 0 genome.wustl.edu 37 2 98804519 98804519 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 98804519 98804519 G A SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.1393 p.V465I 0.199 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 92 0 0 91 37 28.9062 SDCBP2 0 genome.wustl.edu 37 20 1294021 1294021 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 1294021 1294021 C T SNP SDCBP2 ENST00000339987 human ensembl 74_37 -1 known missense c.347 p.R116H 0.763 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP2 HGNC ENSG00000125775 27 0 0 24 7 22.5806 SEC23B 0 genome.wustl.edu 37 20 18511337 18511337 + Missense_Mutation SNP A A T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 18511337 18511337 A T SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.1123 p.M375L 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 135 0 0 151 32 17.4863 PAX1 0 genome.wustl.edu 37 20 21687581 21687581 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 21687581 21687581 C T SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known silent c.792 p.G264 0.068 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 53 0 0 71 18 20.2247 TPX2 0 genome.wustl.edu 37 20 30381814 30381814 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 30381814 30381814 T C SNP TPX2 ENST00000340513 human ensembl 74_37 +1 known missense c.1781 p.L594P 1.000 NULL pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C - no_errors TPX2 HGNC ENSG00000088325 104 0 0 96 35 26.7176 MAP1LC3A 0 genome.wustl.edu 37 20 33147545 33147545 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 33147545 33147545 G A SNP MAP1LC3A ENST00000360668 human ensembl 74_37 +1 known missense c.209 p.R70H 1.000 pfam_Atg8_fam,pfam_Atg12 pfam_Atg8_fam,pfam_Atg12 - no_errors MAP1LC3A HGNC ENSG00000101460 134 0 0 128 47 26.8571 NCOA6 0 genome.wustl.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 33345744 33345744 C T SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.807 p.Q269 0.002 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 37 0 0 42 15 26.3158 MMP24 0 genome.wustl.edu 37 20 33862135 33862135 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 33862135 33862135 T C SNP MMP24 ENST00000246186 human ensembl 74_37 +1 known missense c.1661 p.V554A 1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_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 MMP24 HGNC ENSG00000125966 166 0 0 165 64 27.9476 GDF5 0 genome.wustl.edu 37 20 34022366 34022366 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 34022366 34022366 C T SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known missense c.847 p.V283M 0.944 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 25 0 0 48 9 15.7895 CNBD2 0 genome.wustl.edu 37 20 34618312 34618312 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 34618312 34618312 G T SNP CNBD2 ENST00000373973 human ensembl 74_37 +1 known missense c.1473 p.Q491H 0.999 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 175 0 0 246 14 5.38462 TLDC2 0 genome.wustl.edu 37 20 35507503 35507503 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 35507503 35507503 G A SNP TLDC2 ENST00000217320 human ensembl 74_37 +1 known silent c.249 p.T83 0.006 pfam_TLDc,smart_TLDc pfam_TLDc,smart_TLDc - no_errors TLDC2 HGNC ENSG00000101342 134 0 0 100 35 25.9259 PTPRT 0 genome.wustl.edu 37 20 41101154 41101154 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 41101154 41101154 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1202 p.R401Q 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_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,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 59 0 0 57 24 29.6296 SRSF6 0 genome.wustl.edu 37 20 42088725 42088725 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 42088725 42088725 G A SNP SRSF6 ENST00000244020 human ensembl 74_37 +1 known missense c.434 p.R145Q 1.000 pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF6 HGNC ENSG00000124193 90 0 0 118 24 16.9014 HNF4A 0 genome.wustl.edu 37 20 43058237 43058237 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 43058237 43058237 G A SNP HNF4A ENST00000316099 human ensembl 74_37 +1 known missense c.1357 p.V453I 1.000 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,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 281 0 0 236 85 26.4798 PREX1 0 genome.wustl.edu 37 20 47270000 47270000 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 47270000 47270000 G A SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known nonsense c.2245 p.Q749* 1.000 superfamily_PDZ,smart_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 196 0 0 167 50 23.0415 STAU1 0 genome.wustl.edu 37 20 47739654 47739654 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 47739654 47739654 G A SNP STAU1 ENST00000371856 human ensembl 74_37 -1 known missense c.941 p.P314L 0.999 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 STAU1 HGNC ENSG00000124214 51 0 0 58 17 22.6667 KCNB1 0 genome.wustl.edu 37 20 47990503 47990503 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 47990503 47990503 T C SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known missense c.1594 p.M532V 1.000 pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.1 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_Kv2.1,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 KCNB1 HGNC ENSG00000158445 402 0 0 298 96 24.3655 ATP9A 0 genome.wustl.edu 37 20 50244187 50244187 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 50244187 50244187 G A SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known silent c.1797 p.L599 0.138 pfam_HAD-like_dom,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 ATP9A HGNC ENSG00000054793 486 0 0 425 140 24.7788 DOK5 0 genome.wustl.edu 37 20 53226972 53226972 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 53226972 53226972 C T SNP DOK5 ENST00000262593 human ensembl 74_37 +1 known silent c.645 p.D215 0.781 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK5 HGNC ENSG00000101134 64 0 0 82 24 22.6415 CASS4 0 genome.wustl.edu 37 20 55012542 55012542 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 55012542 55012542 C T SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.359 p.A120V 0.988 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 235 0 0 218 49 18.3521 CTCFL 0 genome.wustl.edu 37 20 56094287 56094287 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 56094287 56094287 G A SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.901 p.R301W 0.969 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 108 0 0 133 46 25.6983 LSM14B 0 genome.wustl.edu 37 20 60701385 60701385 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 60701385 60701385 C T SNP LSM14B ENST00000253001 human ensembl 74_37 +1 known missense c.317 p.S106L 0.984 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC ENSG00000149657 32 0 0 47 10 17.5439 LAMA5 0 genome.wustl.edu 37 20 60908501 60908501 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 60908501 60908501 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.3058 p.A1020T 1.000 NULL 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 45 0 0 42 16 27.5862 RTEL1 0 genome.wustl.edu 37 20 62321132 62321132 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 62321132 62321132 G A SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known silent c.2055 p.Q685 1.000 superfamily_P-loop_NTPase,smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 50 0 0 55 20 26.6667 TPD52L2 0 genome.wustl.edu 37 20 62520579 62520579 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 62520579 62520579 T C SNP TPD52L2 ENST00000217121 human ensembl 74_37 +1 known silent c.582 p.V194 1.000 pfam_TPD52 pfam_TPD52 - no_errors TPD52L2 HGNC ENSG00000101150 26 0 0 27 8 22.8571 NPBWR2 0 genome.wustl.edu 37 20 62737475 62737475 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 62737475 62737475 C T SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.710 p.R237H 0.201 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 37 0 0 39 10 20.4082 MYT1 0 genome.wustl.edu 37 20 62836917 62836917 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 62836917 62836917 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.161 p.C54Y 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 133 0 0 120 41 25.4658 TMX4 0 genome.wustl.edu 37 20 7980484 7980484 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 7980484 7980484 C T SNP TMX4 ENST00000246024 human ensembl 74_37 -1 known missense c.362 p.R121H 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX4 HGNC ENSG00000125827 44 0 0 71 26 26.8041 PLCB1 0 genome.wustl.edu 37 20 8608995 8608995 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 8608995 8608995 C T SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.301 p.R101C 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,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 PLCB1 HGNC ENSG00000182621 58 0 0 112 19 14.5038 RSPO4 0 genome.wustl.edu 37 20 947858 947858 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 947858 947858 G A SNP RSPO4 ENST00000217260 human ensembl 74_37 -1 known missense c.368 p.P123L 0.996 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO4 HGNC ENSG00000101282 68 0 0 67 24 26.3736 CYYR1 0 genome.wustl.edu 37 21 27945300 27945300 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 21 27945300 27945300 G A SNP CYYR1 ENST00000435845 human ensembl 74_37 -1 known missense c.284 p.P95L 0.003 NULL pfam_CYYR1 - no_errors CYYR1 HGNC ENSG00000166265 45 0 0 55 15 21.4286 BACH1 0 genome.wustl.edu 37 21 30698948 30698948 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 21 30698948 30698948 C T SNP BACH1 ENST00000286800 human ensembl 74_37 +1 known missense c.803 p.P268L 0.217 NULL 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 BACH1 HGNC ENSG00000156273 105 1 0.943396 99 24 19.5122 HUNK 0 genome.wustl.edu 37 21 33246192 33246192 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 21 33246192 33246192 G T SNP HUNK ENST00000270112 human ensembl 74_37 +1 known missense c.205 p.G69C 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_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 23 0 0 17 4 19.0476 PCP4 0 genome.wustl.edu 37 21 41270416 41270416 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 21 41270416 41270416 G A SNP PCP4 ENST00000328619 human ensembl 74_37 +1 known missense c.25 p.A9T 0.999 NULL NULL - no_errors PCP4 HGNC ENSG00000183036 74 0 0 64 30 31.9149 DSCAM 0 genome.wustl.edu 37 21 41516548 41516548 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 21 41516548 41516548 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.3129 p.S1043 0.019 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 133 0 0 144 44 23.4043 FAM3B 0 genome.wustl.edu 37 21 42718974 42718974 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 21 42718974 42718974 T C SNP FAM3B ENST00000357985 human ensembl 74_37 +1 known silent c.432 p.S144 0.376 NULL NULL - no_errors FAM3B HGNC ENSG00000183844 218 0 0 187 49 20.7627 PDE9A 0 genome.wustl.edu 37 21 44182210 44182210 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 21 44182210 44182210 G A SNP PDE9A ENST00000291539 human ensembl 74_37 +1 known missense c.1103 p.R368H 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE9A HGNC ENSG00000160191 56 0 0 61 19 23.75 PKNOX1 0 genome.wustl.edu 37 21 44438317 44438317 + Missense_Mutation SNP A A T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 21 44438317 44438317 A T SNP PKNOX1 ENST00000291547 human ensembl 74_37 +1 known missense c.697 p.T233S 0.993 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PKNOX1 HGNC ENSG00000160199 62 0 0 46 16 25.8065 MICAL3 0 genome.wustl.edu 37 22 18301213 18301213 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 18301213 18301213 C T SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.4214 p.R1405Q 0.111 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 185 0 0 166 50 23.1481 ENSG00000161103 0 genome.wustl.edu 37 22 18846126 18846126 + RNA SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 18846126 18846126 G A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 24 0 0 35 8 18.6047 TSSK2 0 genome.wustl.edu 37 22 19119120 19119120 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 19119120 19119120 G A SNP TSSK2 ENST00000399635 human ensembl 74_37 +1 known missense c.208 p.G70S 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK2 HGNC ENSG00000206203 61 0 0 43 17 28.3333 C22orf39 0 genome.wustl.edu 37 22 19396104 19396104 + Nonsense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 19396104 19396104 C A SNP C22orf39 ENST00000509549 human ensembl 74_37 -1 known nonsense c.268 p.G90* 1.000 NULL NULL - no_errors C22orf39 HGNC ENSG00000242259 91 0 0 90 30 25 UFD1L 0 genome.wustl.edu 37 22 19463058 19463058 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 19463058 19463058 C T SNP UFD1L ENST00000263202 human ensembl 74_37 -1 known missense c.71 p.R24H 1.000 pfam_UFD1 pfam_UFD1 - no_errors UFD1L HGNC ENSG00000070010 138 0 0 151 46 23.3503 TRMT2A 0 genome.wustl.edu 37 22 20103586 20103586 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 20103586 20103586 C T SNP TRMT2A ENST00000252136 human ensembl 74_37 -1 known missense c.574 p.E192K 1.000 NULL pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom - no_errors TRMT2A HGNC ENSG00000099899 79 0 0 83 26 23.8532 AIFM3 0 genome.wustl.edu 37 22 21330537 21330537 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 21330537 21330537 G A SNP AIFM3 ENST00000399167 human ensembl 74_37 +1 known missense c.841 p.V281M 0.982 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC ENSG00000183773 43 0 0 36 12 25 P2RX6 0 genome.wustl.edu 37 22 21377631 21377631 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 21377631 21377631 C A SNP P2RX6 ENST00000413302 human ensembl 74_37 +1 known missense c.706 p.P236T 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX6 HGNC ENSG00000099957 219 1 0.454545 193 66 25.4826 MAPK1 0 genome.wustl.edu 37 22 22153338 22153338 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 22153338 22153338 C T SNP MAPK1 ENST00000215832 human ensembl 74_37 -1 known missense c.572 p.R191H 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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 51 0 0 69 19 21.5909 SEC14L3 0 genome.wustl.edu 37 22 30856091 30856091 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 30856091 30856091 C T SNP SEC14L3 ENST00000215812 human ensembl 74_37 -1 known missense c.1120 p.A374T 0.261 superfamily_GOLD,pfscan_GOLD pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L3 HGNC ENSG00000100012 147 1 0.675676 148 8 5.12821 SEC14L4 0 genome.wustl.edu 37 22 30887696 30887696 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 30887696 30887696 G A SNP SEC14L4 ENST00000255858 human ensembl 74_37 -1 known silent c.945 p.G315 0.998 superfamily_GOLD,pfscan_GOLD pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC ENSG00000133488 127 0 0 126 41 24.5509 OSBP2 0 genome.wustl.edu 37 22 31301891 31301891 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 31301891 31301891 G A SNP OSBP2 ENST00000332585 human ensembl 74_37 +1 known missense c.2443 p.V815I 0.994 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 27 0 0 36 10 21.7391 SMTN 0 genome.wustl.edu 37 22 31496923 31496923 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 31496923 31496923 C T SNP SMTN ENST00000333137 human ensembl 74_37 +1 known nonsense c.2656 p.R886* 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 19 0 0 22 8 26.6667 TIMP3 0 genome.wustl.edu 37 22 33255244 33255244 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 33255244 33255244 C T SNP TIMP3 ENST00000266085 human ensembl 74_37 +1 known silent c.516 p.F172 0.232 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 79 0 0 97 28 22.4 MCM5 0 genome.wustl.edu 37 22 35817310 35817310 + Splice_Site SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 35817310 35817310 G T SNP MCM5 ENST00000216122 human ensembl 74_37 +1 known splice_site c.1833-1 e14-1 1.000 - - - no_errors MCM5 HGNC ENSG00000100297 62 0 0 60 21 25.9259 ELFN2 0 genome.wustl.edu 37 22 37769658 37769658 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 37769658 37769658 G A SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known silent c.1917 p.S639 0.984 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 19 0 0 23 7 23.3333 PLA2G6 0 genome.wustl.edu 37 22 38528987 38528987 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 38528987 38528987 C T SNP PLA2G6 ENST00000332509 human ensembl 74_37 -1 known missense c.928 p.V310M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 11 0 0 13 4 23.5294 ST13 0 genome.wustl.edu 37 22 41226918 41226918 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 41226918 41226918 G A SNP ST13 ENST00000216218 human ensembl 74_37 -1 known missense c.724 p.R242C 1.000 NULL pfam_TPR_1,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ST13 HGNC ENSG00000100380 95 0 0 108 38 26.0274 SCUBE1 0 genome.wustl.edu 37 22 43735243 43735243 + Splice_Site SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 43735243 43735243 T C SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known splice_site c.89-2 e2-2 0.508 - - - no_errors SCUBE1 HGNC ENSG00000159307 60 0 0 68 17 20 MPPED1 0 genome.wustl.edu 37 22 43898596 43898596 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 43898596 43898596 G A SNP MPPED1 ENST00000538182 human ensembl 74_37 +1 known missense c.920 p.R307H 1.000 pfam_PEstase_dom pfam_PEstase_dom - no_errors MPPED1 HGNC ENSG00000186732 128 0 0 120 24 16.6667 EFCAB6 0 genome.wustl.edu 37 22 44031067 44031067 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 44031067 44031067 G A SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known silent c.2013 p.D671 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 121 0 0 81 38 31.9328 CELSR1 0 genome.wustl.edu 37 22 46792559 46792559 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 46792559 46792559 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.5786 p.P1929L 0.970 smart_EG-like_dom,pfscan_EG-like_dom 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 30 0 0 34 17 33.3333 FAM19A5 0 genome.wustl.edu 37 22 49103656 49103656 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 49103656 49103656 G A SNP FAM19A5 ENST00000358295 human ensembl 74_37 +1 known silent c.369 p.T123 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A5 HGNC ENSG00000219438 159 0 0 155 73 32.0175 BRD1 0 genome.wustl.edu 37 22 50191612 50191612 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 50191612 50191612 C T SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.1939 p.V647M 0.997 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain 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 80 0 0 76 21 21.6495 CRELD2 0 genome.wustl.edu 37 22 50316958 50316958 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 50316958 50316958 G A SNP CRELD2 ENST00000404488 human ensembl 74_37 +1 known silent c.912 p.T304 0.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Furin_repeat pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD2 HGNC ENSG00000184164 29 0 0 29 12 29.2683 TUBGCP6 0 genome.wustl.edu 37 22 50658984 50658984 + Silent SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 50658984 50658984 G T SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known silent c.3804 p.T1268 0.003 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 46 0 0 57 12 17.3913 IRAK2 0 genome.wustl.edu 37 3 10206671 10206671 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 10206671 10206671 G T SNP IRAK2 ENST00000256458 human ensembl 74_37 +1 known missense c.33 p.W11C 1.000 superfamily_DEATH-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK2 HGNC ENSG00000134070 31 0 0 33 11 25 ATG7 0 genome.wustl.edu 37 3 11372885 11372885 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 11372885 11372885 C T SNP ATG7 ENST00000354449 human ensembl 74_37 +1 known silent c.750 p.V250 1.000 tigrfam_Atg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7 - no_errors ATG7 HGNC ENSG00000197548 202 0 0 289 22 7.07395 ARHGAP31 0 genome.wustl.edu 37 3 119134094 119134094 + Silent SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 119134094 119134094 C A SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known silent c.3318 p.S1106 0.991 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 170 0 0 202 63 23.7736 GTF2E1 0 genome.wustl.edu 37 3 120500198 120500198 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 120500198 120500198 C T SNP GTF2E1 ENST00000283875 human ensembl 74_37 +1 known missense c.1201 p.R401C 1.000 pfam_TFIIE_asu_C pfam_TFIIEa/SarR/Rpc3_HTH_dom,pfam_TFIIE_asu_C,pfam_Znf_TFIIB,smart_TFIIE_asu - no_errors GTF2E1 HGNC ENSG00000153767 72 0 0 115 25 17.8571 GOLGB1 0 genome.wustl.edu 37 3 121415620 121415620 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 121415620 121415620 G A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known silent c.3735 p.D1245 0.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 105 0 0 182 74 28.9062 GOLGB1 0 genome.wustl.edu 37 3 121416977 121416977 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 121416977 121416977 A G SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.2378 p.L793P 0.924 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 101 0 0 192 66 25.5814 SEMA5B 0 genome.wustl.edu 37 3 122632777 122632777 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 122632777 122632777 C T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.2222 p.R741H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 79 0 0 62 19 23.4568 ATP2C1 0 genome.wustl.edu 37 3 130682921 130682921 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 130682921 130682921 C T SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.1108 p.P370S 1.000 pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase 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_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 75 0 0 221 53 19.3431 NPHP3 0 genome.wustl.edu 37 3 132403629 132403629 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 132403629 132403629 G A SNP NPHP3 ENST00000337331 human ensembl 74_37 -1 known silent c.3339 p.D1113 0.693 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 73 0 0 91 25 21.5517 TF 0 genome.wustl.edu 37 3 133476768 133476768 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 133476768 133476768 C T SNP TF ENST00000402696 human ensembl 74_37 +1 known silent c.1026 p.I342 0.002 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 86 0 0 92 33 26.4 HDAC11 0 genome.wustl.edu 37 3 13525002 13525002 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 13525002 13525002 C T SNP HDAC11 ENST00000295757 human ensembl 74_37 +1 known missense c.190 p.R64W 0.954 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC11 HGNC ENSG00000163517 147 0 0 152 42 21.6495 PCCB 0 genome.wustl.edu 37 3 136048788 136048788 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 136048788 136048788 C T SNP PCCB ENST00000251654 human ensembl 74_37 +1 known nonsense c.1540 p.R514* 0.872 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors PCCB HGNC ENSG00000114054 130 0 0 160 45 21.9512 FBLN2 0 genome.wustl.edu 37 3 13679178 13679178 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 13679178 13679178 G A SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.3455 p.R1152H 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 37 0 0 28 11 28.2051 FOXL2 0 genome.wustl.edu 37 3 138665438 138665438 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 138665438 138665438 C T SNP FOXL2 ENST00000330315 human ensembl 74_37 -1 known missense c.127 p.G43R 0.518 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL2 HGNC ENSG00000183770 33 0 0 29 15 34.0909 COPB2 0 genome.wustl.edu 37 3 139077618 139077618 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 139077618 139077618 C A SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known missense c.2521 p.D841Y 1.000 pirsf_COPB2 pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 96 0 0 121 27 18.2432 XRN1 0 genome.wustl.edu 37 3 142051258 142051258 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 142051258 142051258 T C SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.4178 p.E1393G 0.359 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 53 0 0 69 24 25.8065 XRN1 0 genome.wustl.edu 37 3 142137373 142137373 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 142137373 142137373 G A SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.1319 p.T440M 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 108 0 0 116 53 31.3609 CNTN6 0 genome.wustl.edu 37 3 1424848 1424848 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 1424848 1424848 T C SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.2389 p.S797P 1.000 superfamily_Fibronectin_type3 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 64 0 0 120 37 23.5669 CHST2 0 genome.wustl.edu 37 3 142840671 142840671 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 142840671 142840671 C T SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known missense c.1013 p.A338V 1.000 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 17 0 0 28 6 17.6471 RFTN1 0 genome.wustl.edu 37 3 16358500 16358500 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 16358500 16358500 G A SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known silent c.1572 p.G524 0.000 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 168 0 0 143 65 31.25 PHC3 0 genome.wustl.edu 37 3 169890411 169890411 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 169890411 169890411 C T SNP PHC3 ENST00000495893 human ensembl 74_37 -1 known silent c.270 p.L90 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC ENSG00000173889 103 0 0 99 36 26.6667 KCNMB3 0 genome.wustl.edu 37 3 178984477 178984477 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 178984477 178984477 C T SNP KCNMB3 ENST00000349697 human ensembl 74_37 -1 known missense c.22 p.V8M 0.126 NULL pfam_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB3 HGNC ENSG00000171121 58 0 0 45 8 15.0943 PEX5L 0 genome.wustl.edu 37 3 179754369 179754369 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 179754369 179754369 G A SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known nonsense c.19 p.Q7* 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 287 0 0 296 85 22.3097 MAP6D1 0 genome.wustl.edu 37 3 183535841 183535841 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 183535841 183535841 C T SNP MAP6D1 ENST00000318631 human ensembl 74_37 -1 known missense c.460 p.A154T 0.034 pfam_MAP6/FAM154 pfam_MAP6/FAM154 - no_errors MAP6D1 HGNC ENSG00000180834 147 0 0 139 48 25.6684 SGOL1 0 genome.wustl.edu 37 3 20216058 20216058 + Missense_Mutation SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 20216058 20216058 T G SNP SGOL1 ENST00000263753 human ensembl 74_37 -1 known missense c.965 p.Q322P 0.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 32 0 0 38 20 34.4828 THRB 0 genome.wustl.edu 37 3 24185082 24185082 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 24185082 24185082 G A SNP THRB ENST00000356447 human ensembl 74_37 -1 known silent c.648 p.D216 0.972 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_ThyrH_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_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 122 0 0 139 56 28.7179 NEK10 0 genome.wustl.edu 37 3 27326330 27326330 + Splice_Site SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 27326330 27326330 C T SNP NEK10 ENST00000341435 human ensembl 74_37 -1 known splice_site c.1911+1 e20+1 1.000 - - - no_errors NEK10 HGNC ENSG00000163491 76 0 0 100 28 21.875 EOMES 0 genome.wustl.edu 37 3 27758906 27758906 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 27758906 27758906 C A SNP EOMES ENST00000449599 human ensembl 74_37 -1 known missense c.1773 p.M591I 1.000 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 EOMES HGNC ENSG00000163508 92 0 0 103 32 23.7037 CNTN4 0 genome.wustl.edu 37 3 3081856 3081856 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 3081856 3081856 G A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.2299 p.V767M 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 CNTN4 HGNC ENSG00000144619 91 0 0 117 38 24.5161 IL5RA 0 genome.wustl.edu 37 3 3143376 3143376 + Nonsense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 3143376 3143376 C A SNP IL5RA ENST00000445864 human ensembl 74_37 -1 known nonsense c.367 p.G123* 1.000 NULL NULL - no_errors IL5RA HGNC ENSG00000091181 102 0 0 95 21 18.1034 CRTAP 0 genome.wustl.edu 37 3 33165922 33165922 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 33165922 33165922 G A SNP CRTAP ENST00000320954 human ensembl 74_37 +1 known missense c.644 p.R215Q 1.000 NULL NULL - no_errors CRTAP HGNC ENSG00000170275 98 0 0 84 32 27.5862 ACVR2B 0 genome.wustl.edu 37 3 38524744 38524744 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 38524744 38524744 G A SNP ACVR2B ENST00000352511 human ensembl 74_37 +1 known missense c.1460 p.G487D 1.000 NULL 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 ACVR2B HGNC ENSG00000114739 159 0 0 162 49 23.2227 SCN5A 0 genome.wustl.edu 37 3 38592438 38592438 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 38592438 38592438 T C SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.5425 p.I1809V 1.000 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 71 0 0 83 25 23.1481 SCN10A 0 genome.wustl.edu 37 3 38739967 38739967 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 38739967 38739967 G A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.4744 p.R1582C 1.000 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 137 1 0.724638 160 60 27.2727 SEC22C 0 genome.wustl.edu 37 3 42605070 42605070 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 42605070 42605070 G T SNP SEC22C ENST00000449617 human ensembl 74_37 -1 known missense c.407 p.P136H 1.000 NULL superfamily_Longin-like_dom - no_errors SEC22C HGNC ENSG00000093183 71 0 0 102 28 21.5385 ZNF445 0 genome.wustl.edu 37 3 44488178 44488178 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 44488178 44488178 G T SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.2985 p.S995R 0.214 smart_Znf_C2H2-like,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 ZNF445 HGNC ENSG00000185219 138 0 0 151 40 20.9424 ZNF35 0 genome.wustl.edu 37 3 44700211 44700211 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 44700211 44700211 T C SNP ZNF35 ENST00000396056 human ensembl 74_37 +1 known missense c.356 p.L119P 0.013 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ENSG00000169981 77 0 0 94 28 22.9508 CLEC3B 0 genome.wustl.edu 37 3 45077254 45077254 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 45077254 45077254 C T SNP CLEC3B ENST00000296130 human ensembl 74_37 +1 known silent c.447 p.G149 0.688 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 CLEC3B HGNC ENSG00000163815 56 0 0 60 13 17.8082 LTF 0 genome.wustl.edu 37 3 46487972 46487972 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 46487972 46487972 C A SNP LTF ENST00000231751 human ensembl 74_37 -1 known missense c.1316 p.S439I 0.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC ENSG00000012223 75 0 0 59 17 22.3684 COL7A1 0 genome.wustl.edu 37 3 48611124 48611124 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 48611124 48611124 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.6572 p.P2191L 0.976 pfam_Collagen 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 19 0 0 16 17 51.5152 CELSR3 0 genome.wustl.edu 37 3 48692475 48692475 + Splice_Site SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 48692475 48692475 A G SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known splice_site c.4988+2 e6+2 1.000 - - - no_errors CELSR3 HGNC ENSG00000008300 42 0 0 53 21 28.3784 CELSR3 0 genome.wustl.edu 37 3 48699498 48699498 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 48699498 48699498 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known silent c.570 p.N190 0.003 NULL 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 197 0 0 185 51 21.6102 LAMB2 0 genome.wustl.edu 37 3 49161199 49161199 + Silent SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 49161199 49161199 G T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known silent c.3759 p.A1253 0.017 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 96 0 0 90 21 18.9189 RNF123 0 genome.wustl.edu 37 3 49742418 49742418 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 49742418 49742418 G A SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.1961 p.R654H 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 25 0 0 17 4 19.0476 MST1R 0 genome.wustl.edu 37 3 49940481 49940481 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 49940481 49940481 C T SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.562 p.V188M 0.996 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 51 0 0 68 25 26.8817 SEMA3F 0 genome.wustl.edu 37 3 50211666 50211666 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 50211666 50211666 C T SNP SEMA3F ENST00000002829 human ensembl 74_37 +1 known silent c.339 p.G113 0.974 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3F HGNC ENSG00000001617 97 0 0 87 34 28.0992 VPRBP 0 genome.wustl.edu 37 3 51455629 51455629 + Silent SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 51455629 51455629 A G SNP VPRBP ENST00000335891 human ensembl 74_37 -1 known silent c.2112 p.S704 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 25 0 0 26 4 13.3333 DNAH1 0 genome.wustl.edu 37 3 52423487 52423487 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 52423487 52423487 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.9506 p.R3169H 0.999 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 18 0 0 25 3 10.7143 APPL1 0 genome.wustl.edu 37 3 57283464 57283464 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 57283464 57283464 C T SNP APPL1 ENST00000288266 human ensembl 74_37 +1 known missense c.940 p.R314C 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 132 0 0 143 43 23.1183 PTPRG 0 genome.wustl.edu 37 3 62153736 62153736 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 62153736 62153736 G A SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.932 p.R311H 0.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a 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 41 0 0 76 23 23.2323 PRICKLE2 0 genome.wustl.edu 37 3 64133071 64133071 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 64133071 64133071 C T SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known silent c.1095 p.L365 0.721 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 177 0 0 160 55 25.5814 MAGI1 0 genome.wustl.edu 37 3 65416494 65416494 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 65416494 65416494 G A SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.1426 p.R476W 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 25 0 0 98 33 25.1908 KBTBD8 0 genome.wustl.edu 37 3 67058751 67058751 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 67058751 67058751 G A SNP KBTBD8 ENST00000417314 human ensembl 74_37 +1 known missense c.1748 p.R583Q 1.000 pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,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 KBTBD8 HGNC ENSG00000163376 59 0 0 87 30 25.641 ROBO2 0 genome.wustl.edu 37 3 77607139 77607139 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 77607139 77607139 A G SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.1276 p.N426D 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,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 - no_errors ROBO2 HGNC ENSG00000185008 25 0 0 92 30 24.5902 OXTR 0 genome.wustl.edu 37 3 8809756 8809756 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 8809756 8809756 G A SNP OXTR ENST00000316793 human ensembl 74_37 -1 known missense c.118 p.R40C 1.000 prints_Vasoprsn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors OXTR HGNC ENSG00000180914 14 0 0 16 7 30.4348 ARL13B 0 genome.wustl.edu 37 3 93755588 93755588 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 93755588 93755588 C T SNP ARL13B ENST00000394222 human ensembl 74_37 +1 known nonsense c.679 p.R227* 0.986 NULL 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 22 0 0 32 16 33.3333 PHF17 0 genome.wustl.edu 37 4 129776926 129776926 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 129776926 129776926 G A SNP PHF17 ENST00000226319 human ensembl 74_37 +1 known missense c.838 p.V280I 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 55 0 0 59 21 26.25 BOD1L1 0 genome.wustl.edu 37 4 13605718 13605718 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 13605718 13605718 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.2806 p.A936T 0.004 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 175 0 0 223 75 25.1678 PCDH18 0 genome.wustl.edu 37 4 138442446 138442446 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 138442446 138442446 A G SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.3145 p.Y1049H 0.994 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 46 0 0 47 16 25.3968 NR3C2 0 genome.wustl.edu 37 4 149357534 149357534 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 149357534 149357534 G A SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known missense c.479 p.P160L 1.000 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_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 141 0 0 209 57 21.4286 DCHS2 0 genome.wustl.edu 37 4 155250793 155250793 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 155250793 155250793 G A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.2435 p.T812I 0.983 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 48 0 0 68 25 26.8817 FAM198B 0 genome.wustl.edu 37 4 159092457 159092457 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 159092457 159092457 C T SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.71 p.R24H 0.000 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 72 0 0 104 33 24.0876 FNIP2 0 genome.wustl.edu 37 4 159756572 159756572 + Missense_Mutation SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 159756572 159756572 T A SNP FNIP2 ENST00000379346 human ensembl 74_37 +1 known missense c.740 p.V247D 1.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 215 0 0 296 86 22.5131 MFAP3L 0 genome.wustl.edu 37 4 170913207 170913207 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 170913207 170913207 C A SNP MFAP3L ENST00000361618 human ensembl 74_37 -1 known missense c.552 p.K184N 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3L HGNC ENSG00000198948 146 0 0 130 47 26.5537 GALNTL6 0 genome.wustl.edu 37 4 172735778 172735778 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 172735778 172735778 C T SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known missense c.47 p.T16M 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 GALNTL6 HGNC ENSG00000174473 69 0 0 111 27 19.5652 ASB5 0 genome.wustl.edu 37 4 177146478 177146478 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 177146478 177146478 G A SNP ASB5 ENST00000296525 human ensembl 74_37 -1 known nonsense c.211 p.R71* 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB5 HGNC ENSG00000164122 147 0 0 182 47 20.524 TRAPPC11 0 genome.wustl.edu 37 4 184605943 184605943 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 184605943 184605943 A G SNP TRAPPC11 ENST00000334690 human ensembl 74_37 +1 known missense c.1516 p.M506V 1.000 pfam_Foie-gras_1 pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 127 0 0 143 41 22.2826 HELT 0 genome.wustl.edu 37 4 185941867 185941867 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 185941867 185941867 G A SNP HELT ENST00000338875 human ensembl 74_37 +1 known missense c.925 p.G309S 1.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_Orange,pfscan_bHLH_dom - no_errors HELT HGNC ENSG00000187821 101 0 0 101 37 26.8116 FAT1 0 genome.wustl.edu 37 4 187527365 187527365 + Silent SNP A A T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 187527365 187527365 A T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.10209 p.I3403 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_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 48 0 0 58 10 14.7059 DHX15 0 genome.wustl.edu 37 4 24542564 24542564 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 24542564 24542564 G A SNP DHX15 ENST00000336812 human ensembl 74_37 -1 known missense c.1493 p.T498I 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C 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 DHX15 HGNC ENSG00000109606 23 0 0 32 12 27.2727 MFSD10 0 genome.wustl.edu 37 4 2932779 2932779 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 2932779 2932779 C T SNP MFSD10 ENST00000514800 human ensembl 74_37 -1 novel missense c.1261 p.A421T 0.000 pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 18 0 0 29 11 27.5 HTT 0 genome.wustl.edu 37 4 3208281 3208281 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 3208281 3208281 A G SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.5777 p.D1926G 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 158 0 0 109 42 27.8146 KLHL5 0 genome.wustl.edu 37 4 39077615 39077615 + Silent SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 39077615 39077615 C A SNP KLHL5 ENST00000359687 human ensembl 74_37 +1 known silent c.552 p.S184 1.000 NULL 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 141 0 0 211 51 19.4656 LNX1 0 genome.wustl.edu 37 4 54439943 54439943 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 54439943 54439943 G A SNP LNX1 ENST00000263925 human ensembl 74_37 -1 known missense c.227 p.P76L 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 19 0 0 15 5 25 EVC 0 genome.wustl.edu 37 4 5803721 5803721 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 5803721 5803721 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known silent c.2349 p.S783 0.007 NULL NULL - no_errors EVC HGNC ENSG00000072840 45 0 0 31 9 22.5 PDE6B 0 genome.wustl.edu 37 4 619512 619512 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 619512 619512 G A SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.97 p.A33T 0.042 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 84 0 0 87 14 13.8614 PDE6B 0 genome.wustl.edu 37 4 619707 619707 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 619707 619707 C T SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.292 p.R98C 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 16 0 0 18 6 25 LPHN3 0 genome.wustl.edu 37 4 62800606 62800606 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 62800606 62800606 G A SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.2161 p.A721T 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 20 0 0 63 23 26.7442 WFS1 0 genome.wustl.edu 37 4 6296857 6296857 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 6296857 6296857 G A SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.802 p.D268N 0.981 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 101 0 0 119 42 26.087 EPHA5 0 genome.wustl.edu 37 4 66233137 66233137 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 66233137 66233137 C T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.1862 p.C621Y 1.000 pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 27 0 0 63 20 24.0964 TBC1D14 0 genome.wustl.edu 37 4 6925426 6925426 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 6925426 6925426 G A SNP TBC1D14 ENST00000409757 human ensembl 74_37 +1 known missense c.310 p.A104T 0.974 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC ENSG00000132405 184 1 0.540541 188 58 23.5772 CCDC96 0 genome.wustl.edu 37 4 7043869 7043869 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 7043869 7043869 G A SNP CCDC96 ENST00000310085 human ensembl 74_37 -1 known missense c.797 p.A266V 0.000 NULL NULL - no_errors CCDC96 HGNC ENSG00000173013 232 0 0 208 62 22.963 RUFY3 0 genome.wustl.edu 37 4 71654646 71654646 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 71654646 71654646 G T SNP RUFY3 ENST00000417478 human ensembl 74_37 +1 known missense c.1375 p.D459Y 1.000 NULL pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 87 0 0 78 26 25 ADAMTS3 0 genome.wustl.edu 37 4 73149282 73149282 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 73149282 73149282 T C SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known silent c.3189 p.L1063 0.224 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 105 0 0 160 50 23.8095 ADAMTS3 0 genome.wustl.edu 37 4 73205406 73205406 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 73205406 73205406 C T SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known silent c.666 p.S222 0.001 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 48 0 0 149 54 26.601 PSAPL1 0 genome.wustl.edu 37 4 7435122 7435122 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 7435122 7435122 G A SNP PSAPL1 ENST00000319098 human ensembl 74_37 -1 known silent c.1485 p.A495 0.008 pirsf_Saposin_chordata,pfam_SapA,smart_SapA,prints_Saposin,pfscan_SapA pirsf_Saposin_chordata,pfam_SapA,pfam_SapB_1,pfam_SapB_2,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAPL1 HGNC ENSG00000178597 10 0 0 10 4 28.5714 AFAP1 0 genome.wustl.edu 37 4 7802370 7802370 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 7802370 7802370 G A SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known silent c.1065 p.N355 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 41 0 0 29 10 25.641 FAM175A 0 genome.wustl.edu 37 4 84406227 84406227 + RNA SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 84406227 84406227 C T SNP FAM175A ENST00000503217 human ensembl 74_37 -1 putative rna NULL NULL 0.972 - - - no_errors FAM175A HGNC ENSG00000163322 22 0 0 35 4 10.2564 HERC6 0 genome.wustl.edu 37 4 89326038 89326038 + Missense_Mutation SNP C C G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 89326038 89326038 C G SNP HERC6 ENST00000264346 human ensembl 74_37 +1 known missense c.1103 p.S368C 0.001 superfamily_RCC1/BLIP-II pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 50 0 0 70 26 27.0833 GRID2 0 genome.wustl.edu 37 4 94032033 94032033 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 94032033 94032033 C T SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.664 p.R222C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRID2 HGNC ENSG00000152208 84 0 0 143 51 26.2887 TMEM175 0 genome.wustl.edu 37 4 941650 941650 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 941650 941650 C T SNP TMEM175 ENST00000264771 human ensembl 74_37 +1 known silent c.123 p.D41 0.335 pfam_DUF1211_TMEM175 pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 83 0 0 63 17 21.25 ENSG00000248968 0 genome.wustl.edu 37 5 10250009 10250009 + RNA SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 10250009 10250009 T A SNP ENSG00000248968 ENST00000509915 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CTD-2256P15.1 Clone_based_vega_gene ENSG00000248968 29 0 0 37 12 24.4898 DAP 0 genome.wustl.edu 37 5 10681222 10681222 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 10681222 10681222 G A SNP DAP ENST00000432074 human ensembl 74_37 -1 putative missense c.212 p.P71L 1.000 NULL NULL - no_errors DAP HGNC ENSG00000112977 24 0 0 17 7 29.1667 WDR36 0 genome.wustl.edu 37 5 110446870 110446870 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 110446870 110446870 G A SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.1777 p.G593S 1.000 superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 158 0 0 366 89 19.5604 CTNND2 0 genome.wustl.edu 37 5 11082891 11082891 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 11082891 11082891 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.2705 p.R902Q 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 114 0 0 109 43 28.2895 APC 0 genome.wustl.edu 37 5 112175150 112175150 + Missense_Mutation SNP A A C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 112175150 112175150 A C SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.3859 p.I1287L 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 33 0 0 58 24 29.2683 APC 0 genome.wustl.edu 37 5 112178805 112178805 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 112178805 112178805 G A SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.7514 p.R2505Q 1.000 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 84 0 0 110 45 29.0323 MCC 0 genome.wustl.edu 37 5 112364669 112364669 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 112364669 112364669 T C SNP MCC ENST00000302475 human ensembl 74_37 -1 known silent c.2271 p.Q757 0.999 pfam_USH1C-bd_PDZ_domain pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 211 0 0 223 70 23.8908 ZNF474 0 genome.wustl.edu 37 5 121488178 121488178 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 121488178 121488178 C A SNP ZNF474 ENST00000296600 human ensembl 74_37 +1 known missense c.493 p.L165M 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF474 HGNC ENSG00000164185 61 0 0 56 21 27.2727 MEGF10 0 genome.wustl.edu 37 5 126776468 126776468 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 126776468 126776468 G A SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known silent c.2271 p.L757 0.914 smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 110 1 0.900901 171 36 17.3913 SLC27A6 0 genome.wustl.edu 37 5 128359405 128359405 + Splice_Site SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 128359405 128359405 T C SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known splice_site c.1255+2 e6+2 1.000 - - - no_errors SLC27A6 HGNC ENSG00000113396 19 0 0 46 11 19.2982 CHSY3 0 genome.wustl.edu 37 5 129241165 129241165 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 129241165 129241165 G A SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.643 p.G215S 0.002 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 43 0 0 46 17 26.9841 ACSL6 0 genome.wustl.edu 37 5 131305865 131305865 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 131305865 131305865 C T SNP ACSL6 ENST00000296869 human ensembl 74_37 -1 known missense c.1463 p.C488Y 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 179 0 0 172 47 21.4612 RAD50 0 genome.wustl.edu 37 5 131911487 131911487 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 131911487 131911487 G A SNP RAD50 ENST00000265335 human ensembl 74_37 +1 known missense c.232 p.V78M 1.000 superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 67 0 0 97 18 15.6522 AFF4 0 genome.wustl.edu 37 5 132270345 132270345 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 132270345 132270345 C T SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.412 p.A138T 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 121 0 0 112 50 30.8642 CATSPER3 0 genome.wustl.edu 37 5 134305722 134305722 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 134305722 134305722 G A SNP CATSPER3 ENST00000282611 human ensembl 74_37 +1 known silent c.192 p.A64 0.599 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER3 HGNC ENSG00000152705 275 0 0 245 83 25.3049 CATSPER3 0 genome.wustl.edu 37 5 134346089 134346089 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 134346089 134346089 T C SNP CATSPER3 ENST00000282611 human ensembl 74_37 +1 known silent c.963 p.S321 0.148 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER3 HGNC ENSG00000152705 109 0 0 116 31 21.0884 DNAH5 0 genome.wustl.edu 37 5 13735996 13735996 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 13735996 13735996 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.11501 p.R3834H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 63 0 0 114 25 17.9856 EGR1 0 genome.wustl.edu 37 5 137803102 137803102 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 137803102 137803102 C T SNP EGR1 ENST00000239938 human ensembl 74_37 +1 known missense c.964 p.R322C 1.000 NULL pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 240 0 0 227 74 24.5847 SIL1 0 genome.wustl.edu 37 5 138287504 138287504 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 138287504 138287504 C T SNP SIL1 ENST00000265195 human ensembl 74_37 -1 known silent c.837 p.T279 0.381 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors SIL1 HGNC ENSG00000120725 140 0 0 132 31 19.0184 CXXC5 0 genome.wustl.edu 37 5 139060917 139060917 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 139060917 139060917 G A SNP CXXC5 ENST00000302517 human ensembl 74_37 +1 known missense c.809 p.R270Q 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC5 HGNC ENSG00000171604 213 0 0 208 55 20.9125 PCDHA2 0 genome.wustl.edu 37 5 140176951 140176951 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 140176951 140176951 T C SNP PCDHA2 ENST00000378132 human ensembl 74_37 +1 known missense c.2402 p.L801P 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 60 0 0 48 19 28.3582 PCDHA5 0 genome.wustl.edu 37 5 140202504 140202504 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 140202504 140202504 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.1144 p.G382R 0.981 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 PCDHA5 HGNC ENSG00000204965 176 0 0 184 52 22.0339 ENSG00000249034 0 genome.wustl.edu 37 5 140242763 140242763 + Silent SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 140242763 140242763 C A SNP ENSG00000249034 ENST00000502505 human ensembl 74_37 -1 known silent c.213 p.T71 0.004 NULL NULL - no_errors AC005609.1 Clone_based_ensembl_gene ENSG00000249034 31 0 0 48 14 22.5806 PCDHAC2 0 genome.wustl.edu 37 5 140346615 140346615 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 140346615 140346615 C T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known silent c.264 p.R88 0.212 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 PCDHAC2 HGNC ENSG00000243232 40 0 0 61 4 6.15385 PCDHB8 0 genome.wustl.edu 37 5 140558711 140558711 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 140558711 140558711 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1096 p.V366I 0.994 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 816 0 0 923 79 7.88423 PCDHB16 0 genome.wustl.edu 37 5 140564305 140564305 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 140564305 140564305 G A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.2171 p.R724H 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 238 0 0 215 70 24.5614 SLC25A2 0 genome.wustl.edu 37 5 140683317 140683317 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 140683317 140683317 G A SNP SLC25A2 ENST00000239451 human ensembl 74_37 -1 known missense c.116 p.T39M 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 - no_errors SLC25A2 HGNC ENSG00000120329 115 0 0 150 11 6.8323 PCDHGA1 0 genome.wustl.edu 37 5 140712162 140712162 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 140712162 140712162 G A SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known silent c.1911 p.A637 0.001 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 PCDHGA1 HGNC ENSG00000204956 109 0 0 138 16 10.3896 PCDHGA5 0 genome.wustl.edu 37 5 140745766 140745766 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 140745766 140745766 G A SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known silent c.1869 p.T623 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 PCDHGA5 HGNC ENSG00000253485 150 0 0 172 43 20 PCDHGA10 0 genome.wustl.edu 37 5 140792807 140792807 + Missense_Mutation SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 140792807 140792807 T A SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known missense c.65 p.L22H 0.019 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 71 0 0 88 33 27.2727 PCDHGA10 0 genome.wustl.edu 37 5 140794633 140794633 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 140794633 140794633 C T SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known missense c.1891 p.R631C 1.000 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 115 0 0 145 28 16.185 PCDH1 0 genome.wustl.edu 37 5 141243184 141243184 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 141243184 141243184 C A SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.2712 p.K904N 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 249 0 0 224 78 25.8278 ARHGAP26 0 genome.wustl.edu 37 5 142273906 142273906 + Missense_Mutation SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 142273906 142273906 T G SNP ARHGAP26 ENST00000274498 human ensembl 74_37 +1 known missense c.590 p.V197G 1.000 pfam_IRSp53/MIM_homology_IMD pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_IRSp53/MIM_homology_IMD,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 ARHGAP26 HGNC ENSG00000145819 42 0 0 47 17 26.5625 PDGFRB 0 genome.wustl.edu 37 5 149498404 149498404 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 149498404 149498404 A G SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known missense c.2810 p.M937T 1.000 pirsf_Tyr_kinase_CSF1/PDGF_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_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 PDGFRB HGNC ENSG00000113721 139 0 0 126 16 11.2676 CAMK2A 0 genome.wustl.edu 37 5 149602647 149602647 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 149602647 149602647 G A SNP CAMK2A ENST00000398376 human ensembl 74_37 -1 known silent c.1371 p.T457 0.515 pfam_Ca/CaM-dep_prot_kinase-assoc,superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2A HGNC ENSG00000070808 127 0 0 128 42 24.7059 FAT2 0 genome.wustl.edu 37 5 150946634 150946634 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 150946634 150946634 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.1859 p.S620F 0.990 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 151 0 0 130 33 20.2454 HAVCR1 0 genome.wustl.edu 37 5 156482260 156482260 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 156482260 156482260 C T SNP HAVCR1 ENST00000425854 human ensembl 74_37 -1 known missense c.331 p.G111R 0.941 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR1 HGNC ENSG00000113249 124 0 0 114 38 25 CYFIP2 0 genome.wustl.edu 37 5 156747709 156747709 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 156747709 156747709 C T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known nonsense c.1570 p.R524* 0.979 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 54 0 0 55 7 11.2903 PWWP2A 0 genome.wustl.edu 37 5 159520917 159520917 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 159520917 159520917 G A SNP PWWP2A ENST00000307063 human ensembl 74_37 -1 known missense c.740 p.P247L 0.001 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2A HGNC ENSG00000170234 101 0 0 131 25 16.0256 CCNJL 0 genome.wustl.edu 37 5 159680793 159680793 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 159680793 159680793 G A SNP CCNJL ENST00000393977 human ensembl 74_37 -1 known silent c.900 p.N300 0.020 pfam_Cyclin_C-dom,superfamily_Cyclin-like pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 69 0 0 59 17 22.3684 ENSG00000241956 0 genome.wustl.edu 37 5 164028132 164028132 + RNA SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 164028132 164028132 A G SNP ENSG00000241956 ENST00000486913 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTC-340A15.2 Clone_based_vega_gene ENSG00000241956 14 0 0 14 5 26.3158 GPRIN1 0 genome.wustl.edu 37 5 176024847 176024847 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 176024847 176024847 T C SNP GPRIN1 ENST00000303991 human ensembl 74_37 -1 known silent c.1989 p.T663 0.000 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 61 0 0 56 24 30 GPRIN1 0 genome.wustl.edu 37 5 176025084 176025084 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 176025084 176025084 C T SNP GPRIN1 ENST00000303991 human ensembl 74_37 -1 known silent c.1752 p.P584 0.000 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 136 0 0 127 40 23.9521 FGFR4 0 genome.wustl.edu 37 5 176523313 176523313 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 176523313 176523313 C T SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.1970 p.A657V 1.000 pirsf_FGF_rcpt_fam,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 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 FGFR4 HGNC ENSG00000160867 105 0 0 79 27 25.4717 LMAN2 0 genome.wustl.edu 37 5 176765576 176765576 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 176765576 176765576 C T SNP LMAN2 ENST00000303127 human ensembl 74_37 -1 known missense c.346 p.V116I 0.994 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN2 HGNC ENSG00000169223 326 0 0 340 88 20.5607 TRIM7 0 genome.wustl.edu 37 5 180622450 180622450 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 180622450 180622450 C T SNP TRIM7 ENST00000274773 human ensembl 74_37 -1 known missense c.1252 p.V418M 0.989 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin 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,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 22 0 0 19 13 40.625 PDZD2 0 genome.wustl.edu 37 5 31799500 31799500 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 31799500 31799500 A G SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.145 p.N49D 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 205 1 0.485437 201 52 20.5534 PDZD2 0 genome.wustl.edu 37 5 32048734 32048734 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 32048734 32048734 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known nonsense c.1609 p.R537* 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 77 0 0 73 20 21.5054 IRX1 0 genome.wustl.edu 37 5 3601109 3601109 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 3601109 3601109 G A SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known silent c.1398 p.P466 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 104 0 0 119 42 26.087 ADAMTS16 0 genome.wustl.edu 37 5 5303789 5303789 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 5303789 5303789 C T SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known silent c.3096 p.S1032 0.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,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 ADAMTS16 HGNC ENSG00000145536 48 0 0 43 11 20.3704 SKIV2L2 0 genome.wustl.edu 37 5 54696084 54696084 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 54696084 54696084 C T SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known silent c.2316 p.D772 1.000 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 57 0 0 56 24 30 MAP3K1 0 genome.wustl.edu 37 5 56179395 56179395 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 56179395 56179395 G A SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel silent c.3708 p.P1236 0.752 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 71 0 0 105 37 26.0563 ARHGEF28 0 genome.wustl.edu 37 5 73045775 73045775 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 73045775 73045775 C T SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known silent c.147 p.R49 0.009 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 127 0 0 118 40 25.3165 F2R 0 genome.wustl.edu 37 5 76012518 76012518 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 76012518 76012518 G A SNP F2R ENST00000505600 human ensembl 74_37 +1 putative missense c.238 p.V80I 0.000 NULL NULL - no_errors F2R HGNC ENSG00000181104 30 0 0 25 3 10.7143 CMYA5 0 genome.wustl.edu 37 5 79089347 79089347 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 79089347 79089347 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.11877 p.L3959 0.932 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY 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 59 0 0 78 24 23.5294 ZFYVE16 0 genome.wustl.edu 37 5 79746297 79746297 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 79746297 79746297 T C SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known silent c.3274 p.L1092 0.997 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 105 0 0 125 46 26.9006 RASGRF2 0 genome.wustl.edu 37 5 80256573 80256573 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 80256573 80256573 C T SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.16 p.R6C 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 15 0 0 17 8 32 TMEM167A 0 genome.wustl.edu 37 5 82352827 82352827 + RNA SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 82352827 82352827 C A SNP TMEM167A ENST00000503892 human ensembl 74_37 -1 known rna NULL NULL 0.571 - - - no_errors TMEM167A HGNC ENSG00000174695 17 0 0 52 21 28.7671 HAPLN1 0 genome.wustl.edu 37 5 82940461 82940461 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 82940461 82940461 G A SNP HAPLN1 ENST00000274341 human ensembl 74_37 -1 known nonsense c.496 p.R166* 0.995 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN1 HGNC ENSG00000145681 44 0 0 47 16 25.3968 RASA1 0 genome.wustl.edu 37 5 86668007 86668007 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 86668007 86668007 C T SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.1771 p.R591C 1.000 NULL pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 52 0 0 90 24 21.0526 MEF2C 0 genome.wustl.edu 37 5 88025035 88025035 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 88025035 88025035 C T SNP MEF2C ENST00000437473 human ensembl 74_37 -1 known missense c.964 p.E322K 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 23 0 0 53 20 27.3973 SEMA5A 0 genome.wustl.edu 37 5 9052130 9052130 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 9052130 9052130 C T SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.2700 p.S900 0.008 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 SEMA5A HGNC ENSG00000112902 32 0 0 28 15 34.8837 RTN4IP1 0 genome.wustl.edu 37 6 107035691 107035691 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 107035691 107035691 C T SNP RTN4IP1 ENST00000369063 human ensembl 74_37 -1 known missense c.853 p.A285T 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors RTN4IP1 HGNC ENSG00000130347 58 0 0 65 25 27.7778 SYCP2L 0 genome.wustl.edu 37 6 10902994 10902994 + Missense_Mutation SNP A A T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 10902994 10902994 A T SNP SYCP2L ENST00000283141 human ensembl 74_37 +1 known missense c.551 p.E184V 1.000 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 70 0 0 64 19 22.8916 CDC40 0 genome.wustl.edu 37 6 110538952 110538952 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 110538952 110538952 C T SNP CDC40 ENST00000307731 human ensembl 74_37 +1 known nonsense c.1036 p.Q346* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_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 CDC40 HGNC ENSG00000168438 54 0 0 66 10 13.1579 METTL24 0 genome.wustl.edu 37 6 110620349 110620349 + Nonsense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 110620349 110620349 C A SNP METTL24 ENST00000338882 human ensembl 74_37 -1 known nonsense c.562 p.G188* 1.000 NULL NULL - no_errors METTL24 HGNC ENSG00000053328 41 0 0 51 24 32 FYN 0 genome.wustl.edu 37 6 111983105 111983105 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 111983105 111983105 C A SNP FYN ENST00000354650 human ensembl 74_37 -1 known missense c.1451 p.R484M 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_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 234 0 0 191 65 25.3906 GOPC 0 genome.wustl.edu 37 6 117884469 117884469 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 117884469 117884469 C T SNP GOPC ENST00000368498 human ensembl 74_37 -1 known missense c.1337 p.G446D 0.983 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GOPC HGNC ENSG00000047932 59 0 0 158 51 24.4019 TPD52L1 0 genome.wustl.edu 37 6 125541338 125541338 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 125541338 125541338 A G SNP TPD52L1 ENST00000534000 human ensembl 74_37 +1 known missense c.134 p.Q45R 1.000 pfam_TPD52 pfam_TPD52 - no_errors TPD52L1 HGNC ENSG00000111907 23 0 0 48 21 30.4348 LAMA2 0 genome.wustl.edu 37 6 129785509 129785509 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 129785509 129785509 G A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.7067 p.R2356H 1.000 superfamily_ConA-like_lec_gl_sf,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 40 0 0 211 65 23.5507 GFOD1 0 genome.wustl.edu 37 6 13365583 13365583 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 13365583 13365583 C T SNP GFOD1 ENST00000379287 human ensembl 74_37 -1 known missense c.565 p.G189S 1.000 pfam_OxRdtase_C pfam_Oxidoreductase_N,pfam_OxRdtase_C - no_errors GFOD1 HGNC ENSG00000145990 57 0 0 54 19 26.0274 HBS1L 0 genome.wustl.edu 37 6 135317929 135317929 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 135317929 135317929 G A SNP HBS1L ENST00000367837 human ensembl 74_37 -1 known silent c.951 p.G317 0.064 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_HBS1-like_N,pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors HBS1L HGNC ENSG00000112339 154 0 0 315 53 14.4022 MAP7 0 genome.wustl.edu 37 6 136687112 136687112 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 136687112 136687112 G A SNP MAP7 ENST00000454590 human ensembl 74_37 -1 known missense c.1100 p.P367L 0.969 NULL pfam_MAP7 - no_errors MAP7 HGNC ENSG00000135525 87 0 0 96 21 17.9487 IL20RA 0 genome.wustl.edu 37 6 137322794 137322794 + Silent SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 137322794 137322794 G T SNP IL20RA ENST00000316649 human ensembl 74_37 -1 known silent c.1563 p.L521 0.843 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL20RA HGNC ENSG00000016402 165 0 0 182 64 26.0163 GRM1 0 genome.wustl.edu 37 6 146720132 146720132 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 146720132 146720132 A G SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.1957 p.T653A 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C 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 394 0 0 446 143 24.2784 GRM1 0 genome.wustl.edu 37 6 146755775 146755775 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 146755775 146755775 C A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.3428 p.P1143H 0.959 prints_GPCR_3_mtglu_rcpt_1 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 84 0 0 87 37 29.8387 STXBP5 0 genome.wustl.edu 37 6 147637446 147637446 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 147637446 147637446 G A SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.1705 p.V569M 0.299 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 39 0 0 82 25 23.3645 UST 0 genome.wustl.edu 37 6 149285641 149285641 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 149285641 149285641 G A SNP UST ENST00000367463 human ensembl 74_37 +1 known missense c.623 p.R208K 1.000 pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors UST HGNC ENSG00000111962 103 0 0 88 27 23.4783 JARID2 0 genome.wustl.edu 37 6 15497312 15497312 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 15497312 15497312 G A SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.1856 p.R619Q 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd 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 13 0 0 25 4 13.7931 PARK2 0 genome.wustl.edu 37 6 161990428 161990428 + Missense_Mutation SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 161990428 161990428 T A SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known missense c.892 p.I298F 1.000 pirsf_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 54 0 0 62 16 20.5128 THBS2 0 genome.wustl.edu 37 6 169629684 169629684 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 169629684 169629684 C T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.2242 p.G748S 1.000 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 175 0 0 171 52 23.3184 THBS2 0 genome.wustl.edu 37 6 169632789 169632789 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 169632789 169632789 G A SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known silent c.1902 p.V634 0.703 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 128 1 0.775194 139 34 19.6532 DLL1 0 genome.wustl.edu 37 6 170592160 170592160 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 170592160 170592160 C T SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known silent c.2082 p.S694 0.000 NULL 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,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 271 0 0 232 84 26.5823 GPLD1 0 genome.wustl.edu 37 6 24448144 24448144 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 24448144 24448144 C T SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known missense c.1639 p.V547M 0.997 smart_Int_alpha_beta-p pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 53 0 0 55 16 22.5352 GPLD1 0 genome.wustl.edu 37 6 24450073 24450073 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 24450073 24450073 C T SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known missense c.1390 p.V464M 0.001 pfam_FG-GAP,smart_Int_alpha_beta-p pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 147 0 0 149 38 20.3209 FAM65B 0 genome.wustl.edu 37 6 24873113 24873113 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 24873113 24873113 C T SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known missense c.332 p.R111H 1.000 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 50 0 0 63 15 19.2308 SCAND3 0 genome.wustl.edu 37 6 28540659 28540659 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 28540659 28540659 G A SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known nonsense c.3007 p.R1003* 0.999 superfamily_RNaseH-like_dom 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 88 0 0 134 44 24.7191 ZNF311 0 genome.wustl.edu 37 6 28971699 28971699 + RNA SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 28971699 28971699 T C SNP ZNF311 ENST00000483450 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ZNF311 HGNC ENSG00000197935 176 0 0 166 54 24.5455 OR14J1 0 genome.wustl.edu 37 6 29274617 29274617 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 29274617 29274617 C T SNP OR14J1 ENST00000377160 human ensembl 74_37 +1 known missense c.151 p.R51C 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14J1 HGNC ENSG00000204695 182 0 0 264 94 26.257 OR2H1 0 genome.wustl.edu 37 6 29429649 29429649 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 29429649 29429649 T C SNP OR2H1 ENST00000377132 human ensembl 74_37 +1 known silent c.103 p.L35 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2H1 HGNC ENSG00000204688 203 0 0 247 81 24.6951 OR2H1 0 genome.wustl.edu 37 6 29429651 29429651 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 29429651 29429651 G A SNP OR2H1 ENST00000377132 human ensembl 74_37 +1 known silent c.105 p.L35 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2H1 HGNC ENSG00000204688 200 0 0 251 78 23.7082 OR2H1 0 genome.wustl.edu 37 6 29429657 29429657 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 29429657 29429657 G A SNP OR2H1 ENST00000377132 human ensembl 74_37 +1 known silent c.111 p.L37 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2H1 HGNC ENSG00000204688 205 0 0 251 73 22.5309 PRR3 0 genome.wustl.edu 37 6 30529873 30529873 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 30529873 30529873 G A SNP PRR3 ENST00000376560 human ensembl 74_37 +1 known silent c.432 p.P144 0.109 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors PRR3 HGNC ENSG00000204576 142 0 0 128 31 19.4969 MDC1 0 genome.wustl.edu 37 6 30671304 30671304 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 30671304 30671304 G A SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.5573 p.T1858I 0.001 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 276 0 0 243 78 24.2991 VARS2 0 genome.wustl.edu 37 6 30887543 30887543 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 30887543 30887543 C T SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known silent c.1173 p.H391 0.829 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 435 0 0 374 115 23.5174 CDSN 0 genome.wustl.edu 37 6 31088145 31088145 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 31088145 31088145 T C SNP CDSN ENST00000376288 human ensembl 74_37 -1 known missense c.52 p.M18V 0.005 NULL NULL - no_errors CDSN HGNC ENSG00000204539 18 0 0 10 6 37.5 ZBTB12 0 genome.wustl.edu 37 6 31868847 31868847 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 31868847 31868847 C T SNP ZBTB12 ENST00000375527 human ensembl 74_37 -1 known missense c.236 p.R79H 0.004 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 75 0 0 87 26 23.0088 GRM4 0 genome.wustl.edu 37 6 34029714 34029714 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 34029714 34029714 C T SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known silent c.828 p.S276 0.373 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt 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_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 123 0 0 126 34 21.25 HMGA1 0 genome.wustl.edu 37 6 34210525 34210525 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 34210525 34210525 C T SNP HMGA1 ENST00000395004 human ensembl 74_37 +1 known missense c.172 p.R58W 1.000 prints_HMGI/HMGY,prints_AT_hook-like prints_HMGI/HMGY,prints_AT_hook-like - no_errors HMGA1 HGNC ENSG00000137309 9 0 0 17 5 22.7273 ZNF76 0 genome.wustl.edu 37 6 35259413 35259413 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 35259413 35259413 G A SNP ZNF76 ENST00000373953 human ensembl 74_37 +1 known missense c.830 p.R277H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC ENSG00000065029 85 0 0 124 8 6.06061 COX6A1P2 0 genome.wustl.edu 37 6 37012771 37012771 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 37012771 37012771 G A SNP COX6A1P2 ENST00000423336 human ensembl 74_37 +1 known missense c.136 p.A46T 0.889 pfam_Cyt_c_oxidase_su6a,superfamily_Cyt_c_oxidase_su6a,pirsf_Cyt_c_oxidase_su6a pfam_Cyt_c_oxidase_su6a,superfamily_Cyt_c_oxidase_su6a,pirsf_Cyt_c_oxidase_su6a - no_errors COX6A1P2 HGNC ENSG00000226976 47 0 0 41 23 35.9375 MOCS1 0 genome.wustl.edu 37 6 39874786 39874786 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 39874786 39874786 C T SNP MOCS1 ENST00000340692 human ensembl 74_37 -1 known missense c.1258 p.V420M 0.000 NULL pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 146 0 0 123 42 25.4545 USP49 0 genome.wustl.edu 37 6 41774419 41774419 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 41774419 41774419 C T SNP USP49 ENST00000373009 human ensembl 74_37 -1 known silent c.303 p.A101 0.247 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP49 HGNC ENSG00000164663 154 0 0 124 41 24.8485 CUL7 0 genome.wustl.edu 37 6 43019980 43019980 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 43019980 43019980 G A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.703 p.R235W 1.000 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 60 0 0 52 25 32.4675 TMEM63B 0 genome.wustl.edu 37 6 44116118 44116118 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 44116118 44116118 G A SNP TMEM63B ENST00000259746 human ensembl 74_37 +1 known missense c.1117 p.A373T 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 187 0 0 132 31 19.0184 TMEM63B 0 genome.wustl.edu 37 6 44122159 44122159 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 44122159 44122159 G A SNP TMEM63B ENST00000259746 human ensembl 74_37 +1 known missense c.2284 p.A762T 0.415 NULL pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 110 0 0 106 26 19.697 RHAG 0 genome.wustl.edu 37 6 49586939 49586939 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 49586939 49586939 C A SNP RHAG ENST00000371175 human ensembl 74_37 -1 known missense c.294 p.Q98H 0.978 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHAG HGNC ENSG00000112077 81 0 0 71 24 25.2632 GSTA1 0 genome.wustl.edu 37 6 52661013 52661013 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 52661013 52661013 T C SNP GSTA1 ENST00000334575 human ensembl 74_37 -1 known missense c.239 p.N80S 1.000 superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA1 HGNC ENSG00000243955 258 0 0 372 118 24.0816 FAM83B 0 genome.wustl.edu 37 6 54805455 54805455 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 54805455 54805455 C T SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known silent c.1686 p.G562 0.819 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 24 0 0 65 23 26.1364 FAM83B 0 genome.wustl.edu 37 6 54805606 54805606 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 54805606 54805606 A G SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.1837 p.T613A 0.097 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 43 0 0 101 34 25.1852 EXOC2 0 genome.wustl.edu 37 6 599180 599180 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 599180 599180 C T SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known missense c.788 p.R263Q 0.983 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 273 1 0.364964 229 80 25.89 FAM135A 0 genome.wustl.edu 37 6 71162259 71162259 + Missense_Mutation SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 71162259 71162259 T A SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.142 p.L48M 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 40 0 0 43 11 20.3704 B3GAT2 0 genome.wustl.edu 37 6 71665875 71665875 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 71665875 71665875 C T SNP B3GAT2 ENST00000230053 human ensembl 74_37 -1 known silent c.258 p.T86 1.000 NULL pfam_Glyco_trans_43 - no_errors B3GAT2 HGNC ENSG00000112309 55 0 0 56 10 15.1515 EEF1A1 0 genome.wustl.edu 37 6 74228320 74228320 + Silent SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 74228320 74228320 A G SNP EEF1A1 ENST00000309268 human ensembl 74_37 -1 known silent c.786 p.V262 0.969 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 101 0 0 121 43 26.2195 COL12A1 0 genome.wustl.edu 37 6 75839937 75839937 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 75839937 75839937 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.6080 p.G2027E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 46 0 0 90 18 16.6667 IMPG1 0 genome.wustl.edu 37 6 76640734 76640734 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 76640734 76640734 G A SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known missense c.2179 p.P727S 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 104 0 0 124 38 23.4568 HTR1B 0 genome.wustl.edu 37 6 78172202 78172202 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 78172202 78172202 C T SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known missense c.919 p.A307T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 301 0 0 401 64 13.7634 HTR1B 0 genome.wustl.edu 37 6 78172495 78172495 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 78172495 78172495 G A SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known missense c.626 p.T209M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 64 0 0 71 26 26.8041 MDN1 0 genome.wustl.edu 37 6 90397120 90397120 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 90397120 90397120 C A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.11393 p.R3798L 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 98 0 0 81 17 17.3469 MDN1 0 genome.wustl.edu 37 6 90428683 90428683 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 90428683 90428683 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.6124 p.L2042 1.000 superfamily_P-loop_NTPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 81 0 0 117 42 26.4151 CUX1 0 genome.wustl.edu 37 7 101755048 101755048 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 101755048 101755048 C T SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known nonsense c.634 p.Q212* 1.000 NULL 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 40 0 0 36 11 23.4043 ARMC10 0 genome.wustl.edu 37 7 102738782 102738782 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 102738782 102738782 G A SNP ARMC10 ENST00000323716 human ensembl 74_37 +1 known missense c.814 p.V272I 0.025 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC10 HGNC ENSG00000170632 35 0 0 51 13 20.3125 DPY19L2P2 0 genome.wustl.edu 37 7 102912190 102912190 + RNA SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 102912190 102912190 T G SNP DPY19L2P2 ENST00000312132 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 60 0 0 83 5 5.68182 DPY19L2P2 0 genome.wustl.edu 37 7 102912208 102912208 + RNA SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 102912208 102912208 C T SNP DPY19L2P2 ENST00000312132 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 59 0 0 87 5 5.43478 DPY19L2P2 0 genome.wustl.edu 37 7 102912302 102912302 + RNA SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 102912302 102912302 A G SNP DPY19L2P2 ENST00000312132 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 27 0 0 60 6 9.09091 RELN 0 genome.wustl.edu 37 7 103163896 103163896 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 103163896 103163896 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.7432 p.G2478R 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 162 0 0 199 53 21.0317 KMT2E 0 genome.wustl.edu 37 7 104681433 104681433 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 104681433 104681433 G A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.34 p.A12T 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 111 0 0 137 45 24.7253 FOXP2 0 genome.wustl.edu 37 7 114304351 114304351 + Silent SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 114304351 114304351 A G SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known silent c.1938 p.L646 0.997 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 28 0 0 66 18 21.4286 THSD7A 0 genome.wustl.edu 37 7 11521445 11521445 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 11521445 11521445 G A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known nonsense c.1987 p.R663* 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,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 THSD7A HGNC ENSG00000005108 51 0 0 90 33 26.8293 SCIN 0 genome.wustl.edu 37 7 12668733 12668733 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 12668733 12668733 G A SNP SCIN ENST00000297029 human ensembl 74_37 +1 known missense c.1205 p.R402H 1.000 smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors SCIN HGNC ENSG00000006747 38 0 0 62 19 23.4568 GCC1 0 genome.wustl.edu 37 7 127224963 127224963 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 127224963 127224963 C T SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.274 p.E92K 1.000 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 74 0 0 87 20 18.6916 SND1 0 genome.wustl.edu 37 7 127447556 127447556 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 127447556 127447556 C T SNP SND1 ENST00000354725 human ensembl 74_37 +1 known missense c.1171 p.R391C 1.000 pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococal_nuclease_OB-fold pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 93 0 0 113 32 22.069 LRRC4 0 genome.wustl.edu 37 7 127670140 127670140 + Missense_Mutation SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 127670140 127670140 T A SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.554 p.E185V 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,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 LRRC4 HGNC ENSG00000128594 112 0 0 133 26 16.3522 SMO 0 genome.wustl.edu 37 7 128845210 128845210 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 128845210 128845210 C T SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.704 p.A235V 1.000 pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 26 0 0 34 14 29.1667 SMO 0 genome.wustl.edu 37 7 128845574 128845574 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 128845574 128845574 C T SNP SMO ENST00000249373 human ensembl 74_37 +1 known nonsense c.871 p.R291* 1.000 pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 88 0 0 86 33 27.7311 PLXNA4 0 genome.wustl.edu 37 7 132192529 132192529 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 132192529 132192529 G A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.924 p.R308 0.964 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom 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 53 0 0 52 12 18.75 PLXNA4 0 genome.wustl.edu 37 7 132192530 132192530 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 132192530 132192530 C A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.923 p.R308L 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom 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 52 0 0 53 12 18.4615 CALD1 0 genome.wustl.edu 37 7 134617839 134617839 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 134617839 134617839 C T SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known missense c.319 p.R107C 1.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 50 0 0 50 15 23.0769 CALD1 0 genome.wustl.edu 37 7 134635160 134635160 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 134635160 134635160 G A SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known silent c.1143 p.R381 1.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 56 0 0 68 22 24.4444 DENND2A 0 genome.wustl.edu 37 7 140285478 140285478 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 140285478 140285478 T C SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.1156 p.I386V 0.957 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 DENND2A HGNC ENSG00000146966 188 0 0 164 52 24.0741 SSBP1 0 genome.wustl.edu 37 7 141443711 141443711 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 141443711 141443711 G A SNP SSBP1 ENST00000265304 human ensembl 74_37 +1 known missense c.236 p.S79N 1.000 pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd - no_errors SSBP1 HGNC ENSG00000106028 88 0 0 61 18 22.7848 MGAM 0 genome.wustl.edu 37 7 141785651 141785651 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 141785651 141785651 A G SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative missense c.6526 p.I2176V 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 32 0 0 62 13 17.3333 LOC154761 0 genome.wustl.edu 37 7 143510058 143510058 + RNA SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 143510058 143510058 T C SNP LOC154761 ENST00000481651 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors RP11-61L23.2 Clone_based_vega_gene ENSG00000253882 115 0 0 134 14 9.45946 NOBOX 0 genome.wustl.edu 37 7 144098304 144098304 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 144098304 144098304 G A SNP NOBOX ENST00000467773 human ensembl 74_37 -1 known missense c.679 p.R227C 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 36 0 0 44 14 24.1379 ZNF777 0 genome.wustl.edu 37 7 149129019 149129019 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 149129019 149129019 C T SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known missense c.2344 p.E782K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 92 0 0 91 32 26.0163 ZNF777 0 genome.wustl.edu 37 7 149129035 149129035 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 149129035 149129035 C T SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known silent c.2328 p.R776 1.000 pfscan_Znf_C2H2 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 94 0 0 105 13 11.0169 ZNF767 0 genome.wustl.edu 37 7 149255734 149255734 + RNA SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 149255734 149255734 G A SNP ZNF767 ENST00000463567 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ZNF767 HGNC ENSG00000133624 32 0 0 49 7 12.5 CDK5 0 genome.wustl.edu 37 7 150751541 150751541 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 150751541 150751541 G A SNP CDK5 ENST00000485972 human ensembl 74_37 -1 known missense c.662 p.T221M 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,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 CDK5 HGNC ENSG00000164885 63 0 0 60 22 26.8293 SLC4A2 0 genome.wustl.edu 37 7 150771346 150771346 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 150771346 150771346 G A SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.2756 p.R919H 1.000 pfam_HCO3_transpt_C,prints_Anion_exchange,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 90 0 0 67 27 28.7234 KMT2C 0 genome.wustl.edu 37 7 151879075 151879075 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 151879075 151879075 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.5870 p.T1957M 0.263 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 354 0 0 383 94 19.7065 HTR5A 0 genome.wustl.edu 37 7 154862909 154862909 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 154862909 154862909 C T SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known silent c.300 p.H100 0.863 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 39 0 0 53 12 18.4615 CNPY1 0 genome.wustl.edu 37 7 155301590 155301590 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 155301590 155301590 G A SNP CNPY1 ENST00000321736 human ensembl 74_37 -1 putative missense c.143 p.A48V 1.000 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY1 HGNC ENSG00000146910 98 0 0 105 33 23.913 IQCE 0 genome.wustl.edu 37 7 2625867 2625867 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 2625867 2625867 G A SNP IQCE ENST00000402050 human ensembl 74_37 +1 known missense c.850 p.A284T 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 60 0 0 53 24 31.1688 HOXA1 0 genome.wustl.edu 37 7 27135012 27135012 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 27135012 27135012 C A SNP HOXA1 ENST00000343060 human ensembl 74_37 -1 known missense c.520 p.A174S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXA1 HGNC ENSG00000105991 188 0 0 168 72 30 HOXA13 0 genome.wustl.edu 37 7 27237864 27237864 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 27237864 27237864 T C SNP HOXA13 ENST00000222753 human ensembl 74_37 -1 known missense c.1120 p.R374G 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1 - no_errors HOXA13 HGNC ENSG00000106031 326 0 0 265 87 24.7159 CPVL 0 genome.wustl.edu 37 7 29134756 29134756 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 29134756 29134756 G A SNP CPVL ENST00000265394 human ensembl 74_37 -1 known missense c.406 p.R136C 0.523 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 51 0 0 64 20 23.8095 CARD11 0 genome.wustl.edu 37 7 2953041 2953041 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 2953041 2953041 G A SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.2899 p.R967C 0.993 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 66 0 0 69 27 28.125 NOD1 0 genome.wustl.edu 37 7 30492371 30492371 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 30492371 30492371 G A SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known missense c.662 p.T221M 0.096 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase 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 93 0 0 100 31 23.6641 ADCYAP1R1 0 genome.wustl.edu 37 7 31124942 31124942 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 31124942 31124942 G A SNP ADCYAP1R1 ENST00000304166 human ensembl 74_37 +1 known missense c.554 p.R185H 0.995 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-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_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 111 0 0 100 40 28.5714 SDK1 0 genome.wustl.edu 37 7 4011175 4011175 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 4011175 4011175 A G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.1792 p.T598A 0.906 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 SDK1 HGNC ENSG00000146555 26 0 0 23 4 14.8148 SDK1 0 genome.wustl.edu 37 7 4091419 4091419 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 4091419 4091419 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.2868 p.D956 0.244 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 SDK1 HGNC ENSG00000146555 206 0 0 165 32 16.2437 GLI3 0 genome.wustl.edu 37 7 42005764 42005764 + Silent SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 42005764 42005764 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.2907 p.A969 0.514 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 14 0 0 18 11 37.931 HECW1 0 genome.wustl.edu 37 7 43484841 43484841 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 43484841 43484841 G A SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known silent c.2070 p.T690 0.728 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 65 0 0 83 16 16.1616 ZMIZ2 0 genome.wustl.edu 37 7 44801116 44801116 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 44801116 44801116 C T SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known missense c.1309 p.R437C 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 91 0 0 82 26 24.0741 AP5Z1 0 genome.wustl.edu 37 7 4828500 4828500 + Missense_Mutation SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 4828500 4828500 C A SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known missense c.1625 p.P542H 1.000 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 17 0 0 23 9 28.125 ZPBP 0 genome.wustl.edu 37 7 49977188 49977188 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 49977188 49977188 C T SNP ZPBP ENST00000046087 human ensembl 74_37 -1 known missense c.992 p.R331H 0.834 pfam_Sp38-bd pfam_Sp38-bd,pfscan_Ig-like_dom - no_errors ZPBP HGNC ENSG00000042813 101 1 0.980392 140 37 20.904 GRB10 0 genome.wustl.edu 37 7 50683938 50683938 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 50683938 50683938 C T SNP GRB10 ENST00000398812 human ensembl 74_37 -1 known missense c.953 p.G318D 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB10 HGNC ENSG00000106070 90 0 0 85 19 18.2692 LANCL2 0 genome.wustl.edu 37 7 55479657 55479657 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 55479657 55479657 T C SNP LANCL2 ENST00000254770 human ensembl 74_37 +1 known missense c.883 p.Y295H 1.000 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC ENSG00000132434 159 0 0 178 14 7.29167 ZNF713 0 genome.wustl.edu 37 7 55990944 55990944 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 55990944 55990944 C T SNP ZNF713 ENST00000429591 human ensembl 74_37 +1 known silent c.138 p.D46 0.992 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 ZNF713 HGNC ENSG00000178665 102 0 0 110 45 29.0323 ENSG00000236299 0 genome.wustl.edu 37 7 63353759 63353759 + RNA SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 63353759 63353759 G A SNP ENSG00000236299 ENST00000596855 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors RP11-340I6.7 Clone_based_vega_gene ENSG00000236299 118 0 0 133 43 24.4318 DAGLB 0 genome.wustl.edu 37 7 6474590 6474590 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 6474590 6474590 T C SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known missense c.481 p.K161E 0.979 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 155 0 0 162 48 22.8571 CCT6P1 0 genome.wustl.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 65222986 65222986 G T SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CCT6P1 HGNC ENSG00000228409 19 0 0 8 6 42.8571 ASL 0 genome.wustl.edu 37 7 65557802 65557802 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 65557802 65557802 G T SNP ASL ENST00000304874 human ensembl 74_37 +1 known missense c.1298 p.S433I 1.000 superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase - no_errors ASL HGNC ENSG00000126522 139 0 0 165 53 24.3119 ZDHHC4 0 genome.wustl.edu 37 7 6628377 6628377 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 6628377 6628377 T C SNP ZDHHC4 ENST00000335965 human ensembl 74_37 +1 known missense c.871 p.Y291H 0.288 superfamily_Cyt_c_Oxase_su1_dom pfam_Znf_DHHC_palmitoyltrfase,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC4 HGNC ENSG00000136247 149 0 0 177 66 27.1605 WBSCR17 0 genome.wustl.edu 37 7 71130562 71130562 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 71130562 71130562 C T SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.1247 p.A416V 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 WBSCR17 HGNC ENSG00000185274 37 0 0 47 14 22.9508 MLXIPL 0 genome.wustl.edu 37 7 73010969 73010969 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 73010969 73010969 C T SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known missense c.1822 p.G608S 0.999 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 14 0 0 13 4 23.5294 PCLO 0 genome.wustl.edu 37 7 82582682 82582682 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 82582682 82582682 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.7587 p.I2529M 0.052 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 86 0 0 116 16 12.1212 PCLO 0 genome.wustl.edu 37 7 82583741 82583741 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 82583741 82583741 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.6528 p.V2176 0.401 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 73 0 0 97 27 21.7742 SEMA3E 0 genome.wustl.edu 37 7 83029537 83029537 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 83029537 83029537 G A SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known silent c.1173 p.Y391 0.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 66 0 0 156 55 26.0664 COL1A2 0 genome.wustl.edu 37 7 94039080 94039080 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 94039080 94039080 G A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.982 p.G328S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 107 1 0.925926 133 38 22.2222 VPS13B 0 genome.wustl.edu 37 8 100866034 100866034 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 100866034 100866034 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.10492 p.K3498E 0.998 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 201 0 0 200 56 21.875 RP1L1 0 genome.wustl.edu 37 8 10468839 10468839 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 10468839 10468839 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.2769 p.S923 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 53 0 0 48 22 31.4286 RP1L1 0 genome.wustl.edu 37 8 10470600 10470600 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 10470600 10470600 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.1008 p.T336 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 155 0 0 149 57 27.6699 LRP12 0 genome.wustl.edu 37 8 105509306 105509306 + Nonsense_Mutation SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 105509306 105509306 T A SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known nonsense c.1417 p.R473* 0.985 superfamily_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 66 0 0 104 28 21.2121 CSMD3 0 genome.wustl.edu 37 8 113668504 113668504 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 113668504 113668504 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.2883 p.L961 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 CSMD3 HGNC ENSG00000164796 42 0 0 73 13 15.1163 NEIL2 0 genome.wustl.edu 37 8 11637219 11637219 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 11637219 11637219 C T SNP NEIL2 ENST00000284503 human ensembl 74_37 +1 known missense c.251 p.A84V 0.000 pfam_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL2 HGNC ENSG00000154328 197 0 0 182 65 26.3158 NEIL2 0 genome.wustl.edu 37 8 11643696 11643696 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 11643696 11643696 G A SNP NEIL2 ENST00000284503 human ensembl 74_37 +1 known missense c.913 p.E305K 0.061 pfscan_Znf_DNA_glyclase/AP_lyase pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL2 HGNC ENSG00000154328 47 0 0 61 19 23.75 LONRF1 0 genome.wustl.edu 37 8 12586437 12586437 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 12586437 12586437 G A SNP LONRF1 ENST00000398246 human ensembl 74_37 -1 known silent c.1983 p.A661 0.967 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC ENSG00000154359 76 0 0 147 41 21.8085 SLC45A4 0 genome.wustl.edu 37 8 142228905 142228905 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 142228905 142228905 G A SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known silent c.834 p.H278 0.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 165 0 0 179 47 20.7965 BAI1 0 genome.wustl.edu 37 8 143570403 143570403 + Silent SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 143570403 143570403 T C SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known silent c.2460 p.D820 0.359 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 24 0 0 26 6 18.75 MAPK15 0 genome.wustl.edu 37 8 144804001 144804001 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 144804001 144804001 G A SNP MAPK15 ENST00000338033 human ensembl 74_37 +1 known missense c.1409 p.R470Q 0.782 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 68 0 0 56 29 34.1176 EPPK1 0 genome.wustl.edu 37 8 144945705 144945705 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 144945705 144945705 G T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.1717 p.L573M 0.155 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 19 0 0 14 4 22.2222 PLEC 0 genome.wustl.edu 37 8 144999478 144999478 + Missense_Mutation SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 144999478 144999478 T G SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.5030 p.E1677A 0.998 NULL 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 17 0 0 16 5 23.8095 MYOM2 0 genome.wustl.edu 37 8 2041865 2041865 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 2041865 2041865 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.2072 p.G691E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,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 MYOM2 HGNC ENSG00000036448 121 0 0 98 43 30.4965 GFRA2 0 genome.wustl.edu 37 8 21608381 21608381 + Silent SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 21608381 21608381 A G SNP GFRA2 ENST00000517328 human ensembl 74_37 -1 known silent c.513 p.N171 0.666 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC ENSG00000168546 82 0 0 73 22 23.1579 XPO7 0 genome.wustl.edu 37 8 21853019 21853019 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 21853019 21853019 C T SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.2281 p.P761S 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 13 0 0 18 7 28 STMN4 0 genome.wustl.edu 37 8 27097669 27097669 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 27097669 27097669 G A SNP STMN4 ENST00000350889 human ensembl 74_37 -1 known missense c.410 p.A137V 0.999 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN4 HGNC ENSG00000015592 123 0 0 123 51 29.3103 SCARA3 0 genome.wustl.edu 37 8 27516059 27516059 + Missense_Mutation SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 27516059 27516059 G T SNP SCARA3 ENST00000301904 human ensembl 74_37 +1 known missense c.372 p.Q124H 1.000 NULL pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 306 2 0.649351 259 70 21.2766 KCNU1 0 genome.wustl.edu 37 8 36721991 36721991 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 36721991 36721991 C T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.1961 p.P654L 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 41 0 0 118 25 17.4825 RAB11FIP1 0 genome.wustl.edu 37 8 37729675 37729675 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 37729675 37729675 G A SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.2645 p.A882V 0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 77 0 0 61 26 29.8851 FBXO25 0 genome.wustl.edu 37 8 418731 418731 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 418731 418731 G A SNP FBXO25 ENST00000276326 human ensembl 74_37 +1 known missense c.1031 p.C344Y 1.000 NULL superfamily_F-box_dom - no_errors FBXO25 HGNC ENSG00000147364 39 0 0 46 16 25.8065 PLAT 0 genome.wustl.edu 37 8 42033662 42033662 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 42033662 42033662 G A SNP PLAT ENST00000220809 human ensembl 74_37 -1 known missense c.1538 p.S513L 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAT HGNC ENSG00000104368 15 0 0 22 15 40.5405 VDAC3 0 genome.wustl.edu 37 8 42252652 42252652 + Splice_Site SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 42252652 42252652 G A SNP VDAC3 ENST00000521158 human ensembl 74_37 +1 known splice_site c.117+1 e2+1 1.000 - - - no_errors VDAC3 HGNC ENSG00000078668 108 0 0 112 8 6.66667 ST18 0 genome.wustl.edu 37 8 53092689 53092689 + Silent SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 53092689 53092689 A G SNP ST18 ENST00000276480 human ensembl 74_37 -1 known silent c.270 p.S90 0.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 197 0 0 280 80 22.2222 NPBWR1 0 genome.wustl.edu 37 8 53852517 53852517 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 53852517 53852517 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.50 p.P17L 0.003 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 21 0 0 14 7 33.3333 CHD7 0 genome.wustl.edu 37 8 61754314 61754314 + Splice_Site SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 61754314 61754314 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known splice_site c.4644+1 e19+1 1.000 - - - no_errors CHD7 HGNC ENSG00000171316 45 0 0 49 18 26.8657 CHD7 0 genome.wustl.edu 37 8 61764678 61764678 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 61764678 61764678 C T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.5766 p.R1922 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 54 0 0 71 21 22.8261 TRIM55 0 genome.wustl.edu 37 8 67064641 67064641 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 67064641 67064641 G A SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known missense c.1015 p.G339R 0.082 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 10 0 0 18 8 30.7692 NCOA2 0 genome.wustl.edu 37 8 71041179 71041179 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 71041179 71041179 C T SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.3361 p.D1121N 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 NCOA2 HGNC ENSG00000140396 15 0 0 16 8 33.3333 KCNB2 0 genome.wustl.edu 37 8 73849334 73849334 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 73849334 73849334 C T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.1744 p.P582S 0.890 pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.2 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 104 0 0 91 30 24.7934 PEX2 0 genome.wustl.edu 37 8 77896329 77896329 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 77896329 77896329 A G SNP PEX2 ENST00000357039 human ensembl 74_37 -1 known missense c.86 p.L29P 1.000 pfam_Pex_N pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC ENSG00000164751 91 0 0 129 39 23.2143 IMPA1 0 genome.wustl.edu 37 8 82572840 82572840 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 82572840 82572840 G A SNP IMPA1 ENST00000449740 human ensembl 74_37 -1 known missense c.806 p.A269V 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen,prints_Inositol_monophosphatase - no_errors IMPA1 HGNC ENSG00000133731 64 0 0 89 37 29.3651 RIPK2 0 genome.wustl.edu 37 8 90770396 90770396 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 90770396 90770396 C T SNP RIPK2 ENST00000220751 human ensembl 74_37 +1 known silent c.108 p.R36 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_Rcpt-int_Ser/Thr_kinase-2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_CARD,pfscan_Prot_kinase_dom - no_errors RIPK2 HGNC ENSG00000104312 15 0 0 14 5 26.3158 KIAA1429 0 genome.wustl.edu 37 8 95539535 95539535 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 95539535 95539535 G A SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.937 p.R313C 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 53 0 0 65 24 26.9663 DPY19L4 0 genome.wustl.edu 37 8 95796029 95796029 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 95796029 95796029 A G SNP DPY19L4 ENST00000414645 human ensembl 74_37 +1 known missense c.1847 p.N616S 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000156162 40 0 0 52 13 20 SDC2 0 genome.wustl.edu 37 8 97620628 97620628 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 97620628 97620628 C T SNP SDC2 ENST00000302190 human ensembl 74_37 +1 known silent c.372 p.A124 0.570 pfam_Syndecan/Neurexin_dom pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC2 HGNC ENSG00000169439 58 0 0 77 25 24.5098 MTDH 0 genome.wustl.edu 37 8 98699707 98699707 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 98699707 98699707 C T SNP MTDH ENST00000336273 human ensembl 74_37 +1 known missense c.619 p.R207C 1.000 NULL NULL - no_errors MTDH HGNC ENSG00000147649 150 0 0 174 52 23.0088 ERP44 0 genome.wustl.edu 37 9 102778630 102778630 + Nonsense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 102778630 102778630 G A SNP ERP44 ENST00000262455 human ensembl 74_37 -1 known nonsense c.736 p.R246* 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold - no_errors ERP44 HGNC ENSG00000023318 122 0 0 177 15 7.8125 ERP44 0 genome.wustl.edu 37 9 102782969 102782969 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 102782969 102782969 C T SNP ERP44 ENST00000262455 human ensembl 74_37 -1 known silent c.516 p.S172 0.984 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold - no_errors ERP44 HGNC ENSG00000023318 29 0 0 64 16 20 OR13C4 0 genome.wustl.edu 37 9 107289389 107289389 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 107289389 107289389 C T SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known missense c.102 p.M34I 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 97 0 0 150 45 23.0769 ZNF462 0 genome.wustl.edu 37 9 109694807 109694807 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 109694807 109694807 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known silent c.6273 p.S2091 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 77 0 0 76 18 19.1489 KLF4 0 genome.wustl.edu 37 9 110248069 110248069 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 110248069 110248069 G A SNP KLF4 ENST00000374672 human ensembl 74_37 -1 known missense c.1403 p.S468L 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 291 0 0 282 106 27.3196 ZNF883 0 genome.wustl.edu 37 9 115760546 115760546 + RNA SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 115760546 115760546 T C SNP ZNF883 ENST00000427548 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNF883 HGNC ENSG00000228623 105 0 0 106 27 20.3008 ALAD 0 genome.wustl.edu 37 9 116152094 116152094 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 116152094 116152094 G A SNP ALAD ENST00000409155 human ensembl 74_37 -1 known silent c.585 p.S195 1.000 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ENSG00000148218 75 0 0 65 22 25.2874 GSN 0 genome.wustl.edu 37 9 124074693 124074693 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 124074693 124074693 G A SNP GSN ENST00000373818 human ensembl 74_37 +1 known missense c.743 p.R248Q 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 124 0 0 156 39 20 MORN5 0 genome.wustl.edu 37 9 124962220 124962220 + RNA SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 124962220 124962220 G A SNP MORN5 ENST00000486801 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MORN5 HGNC ENSG00000185681 64 0 0 81 27 25 OR1Q1 0 genome.wustl.edu 37 9 125377740 125377740 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 125377740 125377740 G A SNP OR1Q1 ENST00000297913 human ensembl 74_37 +1 known missense c.724 p.G242S 0.961 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 OR1Q1 HGNC ENSG00000165202 77 0 0 117 53 31.1765 GPR21 0 genome.wustl.edu 37 9 125797169 125797169 + Silent SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 125797169 125797169 A G SNP GPR21 ENST00000373642 human ensembl 74_37 +1 known silent c.324 p.V108 0.909 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR21 HGNC ENSG00000188394 50 0 0 84 32 27.5862 TYRP1 0 genome.wustl.edu 37 9 12694160 12694160 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 12694160 12694160 G A SNP TYRP1 ENST00000388918 human ensembl 74_37 +1 known missense c.164 p.R55H 0.120 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 30 0 0 52 22 29.7297 NR5A1 0 genome.wustl.edu 37 9 127262518 127262518 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 127262518 127262518 G A SNP NR5A1 ENST00000373588 human ensembl 74_37 -1 known missense c.721 p.R241W 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,pirsf_Steroidogenic_factor_1 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,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A1 HGNC ENSG00000136931 17 0 0 17 7 29.1667 FAM129B 0 genome.wustl.edu 37 9 130272446 130272446 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 130272446 130272446 G A SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known silent c.1140 p.G380 0.008 NULL pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 146 0 0 137 42 23.4637 SH2D3C 0 genome.wustl.edu 37 9 130507379 130507379 + Splice_Site SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 130507379 130507379 C T SNP SH2D3C ENST00000314830 human ensembl 74_37 -1 known splice_site c.1265-1 e7-1 0.996 - - - no_errors SH2D3C HGNC ENSG00000095370 41 0 0 57 22 27.8481 CERCAM 0 genome.wustl.edu 37 9 131191074 131191074 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 131191074 131191074 C T SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known missense c.925 p.R309W 0.525 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 101 0 0 101 17 14.4068 SET 0 genome.wustl.edu 37 9 131455924 131455924 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 131455924 131455924 C T SNP SET ENST00000372692 human ensembl 74_37 +1 known missense c.539 p.T180M 1.000 pfam_NAP_family pfam_NAP_family - no_errors SET HGNC ENSG00000119335 43 0 0 38 13 25.4902 EXOSC2 0 genome.wustl.edu 37 9 133574891 133574891 + RNA SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 133574891 133574891 C T SNP EXOSC2 ENST00000463488 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EXOSC2 HGNC ENSG00000130713 76 0 0 80 25 23.8095 LAMC3 0 genome.wustl.edu 37 9 133914292 133914292 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 133914292 133914292 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.1018 p.R340W 0.990 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 116 0 0 99 37 27.2059 LAMC3 0 genome.wustl.edu 37 9 133942368 133942368 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 133942368 133942368 A G SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.2369 p.D790G 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 96 0 0 98 30 23.4375 CELP 0 genome.wustl.edu 37 9 135962338 135962338 + RNA SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 135962338 135962338 C A SNP CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.972 - - - no_errors CELP HGNC ENSG00000170827 21 0 0 27 4 12.9032 BRD3 0 genome.wustl.edu 37 9 136901415 136901415 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 136901415 136901415 C T SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known missense c.1675 p.A559T 0.984 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 75 0 0 75 22 22.6804 OLFM1 0 genome.wustl.edu 37 9 138011370 138011370 + Nonsense_Mutation SNP T T A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 138011370 138011370 T A SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known nonsense c.804 p.Y268* 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 121 0 0 115 43 27.2152 QSOX2 0 genome.wustl.edu 37 9 139113734 139113734 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 139113734 139113734 G A SNP QSOX2 ENST00000358701 human ensembl 74_37 -1 known silent c.729 p.D243 0.000 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 140 1 0.70922 117 37 24.026 SNAPC4 0 genome.wustl.edu 37 9 139279234 139279234 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 139279234 139279234 T C SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known missense c.1358 p.K453R 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 89 0 0 86 22 20.3704 KIAA1984 0 genome.wustl.edu 37 9 139699855 139699855 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 139699855 139699855 C T SNP KIAA1984 ENST00000479371 human ensembl 74_37 +1 known missense c.892 p.R298C 0.000 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 39 0 0 45 13 22.4138 C9orf172 0 genome.wustl.edu 37 9 139741105 139741105 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 139741105 139741105 C T SNP C9orf172 ENST00000436881 human ensembl 74_37 +1 known missense c.2239 p.R747C 1.000 NULL NULL - no_errors C9orf172 HGNC ENSG00000232434 21 0 0 23 9 28.125 EDF1 0 genome.wustl.edu 37 9 139757759 139757759 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 139757759 139757759 G A SNP EDF1 ENST00000224073 human ensembl 74_37 -1 known missense c.272 p.T91M 0.992 pfam_Cro/C1-type_HTH,superfamily_Lambda_DNA-bd_dom,smart_Cro/C1-type_HTH,pfscan_Cro/C1-type_HTH pfam_MBF1_N,pfam_Cro/C1-type_HTH,superfamily_Lambda_DNA-bd_dom,smart_Cro/C1-type_HTH,pfscan_Cro/C1-type_HTH - no_errors EDF1 HGNC ENSG00000107223 101 1 0.980392 109 34 23.7762 C9orf142 0 genome.wustl.edu 37 9 139888076 139888076 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 139888076 139888076 C T SNP C9orf142 ENST00000371620 human ensembl 74_37 +1 known missense c.535 p.R179W 0.983 NULL NULL - no_errors C9orf142 HGNC ENSG00000148362 79 0 0 94 21 18.2609 CACNA1B 0 genome.wustl.edu 37 9 140809195 140809195 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 140809195 140809195 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.712 p.A238T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 48 0 0 45 15 25 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 153 0 0 185 10 5.12821 IFNA8 0 genome.wustl.edu 37 9 21409548 21409548 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 21409548 21409548 C T SNP IFNA8 ENST00000380205 human ensembl 74_37 +1 known nonsense c.373 p.Q125* 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA8 HGNC ENSG00000120242 121 0 0 230 81 26.045 KCNV2 0 genome.wustl.edu 37 9 2718008 2718008 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 2718008 2718008 G A SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known missense c.269 p.S90N 0.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 42 0 0 43 10 18.8679 TOPORS 0 genome.wustl.edu 37 9 32542476 32542476 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 32542476 32542476 G A SNP TOPORS ENST00000360538 human ensembl 74_37 -1 known missense c.2047 p.R683W 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 333 0 0 315 117 27.0833 DNAJA1 0 genome.wustl.edu 37 9 33038834 33038834 + Missense_Mutation SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 33038834 33038834 A G SNP DNAJA1 ENST00000330899 human ensembl 74_37 +1 known missense c.1127 p.Y376C 1.000 NULL pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA1 HGNC ENSG00000086061 54 0 0 96 8 7.69231 NOL6 0 genome.wustl.edu 37 9 33467247 33467247 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 33467247 33467247 C T SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.1739 p.R580H 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 47 0 0 47 14 22.9508 DCTN3 0 genome.wustl.edu 37 9 34617918 34617918 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 34617918 34617918 T C SNP DCTN3 ENST00000259632 human ensembl 74_37 -1 known missense c.232 p.I78V 0.957 pfam_Dynactin_p22 pfam_Dynactin_p22 - no_errors DCTN3 HGNC ENSG00000137100 54 0 0 60 23 27.7108 STOML2 0 genome.wustl.edu 37 9 35101920 35101920 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 35101920 35101920 C T SNP STOML2 ENST00000356493 human ensembl 74_37 -1 known missense c.323 p.R108H 1.000 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML2 HGNC ENSG00000165283 148 1 0.671141 130 39 23.0769 RUSC2 0 genome.wustl.edu 37 9 35559222 35559222 + Splice_Site SNP G G T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 35559222 35559222 G T SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known splice_site c.3342-1 e8-1 1.000 - - - no_errors RUSC2 HGNC ENSG00000198853 109 0 0 97 40 29.1971 NPR2 0 genome.wustl.edu 37 9 35794060 35794060 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 35794060 35794060 G A SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known missense c.833 p.R278H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 107 0 0 86 29 25.2174 FBXO10 0 genome.wustl.edu 37 9 37541398 37541398 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 37541398 37541398 C T SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known missense c.368 p.S123N 1.000 superfamily_Pectin_lyase_fold/virulence 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 148 0 0 155 44 22.1106 UHRF2 0 genome.wustl.edu 37 9 6482085 6482085 + Nonsense_Mutation SNP A A T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 6482085 6482085 A T SNP UHRF2 ENST00000276893 human ensembl 74_37 +1 known nonsense c.1378 p.R460* 1.000 pfam_SRA_YDG,smart_SRA_YDG,pfscan_SRA_YDG pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin_dom,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ENSG00000147854 161 0 0 203 75 26.9784 PGM5 0 genome.wustl.edu 37 9 70993121 70993121 + Nonsense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 70993121 70993121 C T SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known nonsense c.268 p.R90* 0.949 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 39 0 0 135 10 6.89655 TRPM3 0 genome.wustl.edu 37 9 73152135 73152135 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 73152135 73152135 C T SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.3939 p.S1313 0.986 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 133 0 0 129 52 28.7293 TMC1 0 genome.wustl.edu 37 9 75369791 75369791 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 75369791 75369791 C T SNP TMC1 ENST00000297784 human ensembl 74_37 +1 known silent c.732 p.Y244 0.716 NULL pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 44 0 0 51 19 27.1429 VPS13A 0 genome.wustl.edu 37 9 79792679 79792679 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 79792679 79792679 T C SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.59 p.V20A 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 47 0 0 54 11 16.9231 SPATA31D5P 0 genome.wustl.edu 37 9 84531943 84531943 + RNA SNP C C G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 84531943 84531943 C G SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors SPATA31D5P HGNC ENSG00000240632 15 0 0 50 14 21.875 CTSL 0 genome.wustl.edu 37 9 90343560 90343560 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 90343560 90343560 C T SNP CTSL ENST00000340342 human ensembl 74_37 +1 known missense c.457 p.R153W 0.998 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSL HGNC ENSG00000135047 213 0 0 191 56 22.6721 SECISBP2 0 genome.wustl.edu 37 9 91964707 91964707 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 91964707 91964707 C T SNP SECISBP2 ENST00000375807 human ensembl 74_37 +1 known silent c.1755 p.D585 0.083 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 149 0 0 146 34 18.8889 IARS 0 genome.wustl.edu 37 9 95012488 95012488 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 95012488 95012488 C T SNP IARS ENST00000375643 human ensembl 74_37 -1 known missense c.2513 p.R838Q 1.000 pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 136 0 0 126 26 17.1053 NOL8 0 genome.wustl.edu 37 9 95073456 95073456 + Missense_Mutation SNP T T C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 95073456 95073456 T C SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known missense c.2444 p.Q815R 0.008 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 35 0 0 57 13 18.5714 FGD3 0 genome.wustl.edu 37 9 95796871 95796871 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 95796871 95796871 C T SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.1834 p.R612W 0.042 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 132 0 0 103 34 24.8175 FAM120A 0 genome.wustl.edu 37 9 96214614 96214614 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 96214614 96214614 G A SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known silent c.417 p.L139 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 30 0 0 30 9 23.0769 ZNF367 0 genome.wustl.edu 37 9 99150564 99150564 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 99150564 99150564 C T SNP ZNF367 ENST00000375256 human ensembl 74_37 -1 known silent c.1008 p.A336 0.588 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF367 HGNC ENSG00000165244 58 0 0 87 17 16.3462 KIR2DL2 0 genome.wustl.edu 37 GL000209.1 58473 58473 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 GL000209.1 58473 58473 C T SNP KIR2DL2 ENST00000400851 human ensembl 74_37 +1 known missense c.154 p.R52C NULL pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 109 0 0 123 28 18.543 GPRASP2 0 genome.wustl.edu 37 X 101971337 101971337 + Missense_Mutation SNP T T G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 101971337 101971337 T G SNP GPRASP2 ENST00000332262 human ensembl 74_37 +1 known missense c.1540 p.F514V 0.067 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 80 0 0 62 69 52.6718 COL4A6 0 genome.wustl.edu 37 X 107402789 107402789 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 107402789 107402789 G A SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.4718 p.A1573V 0.998 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 59 0 0 37 38 50.6667 IRS4 0 genome.wustl.edu 37 X 107979542 107979542 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 107979542 107979542 C T SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known silent c.33 p.A11 0.676 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 25 0 0 23 32 58.1818 CAPN6 0 genome.wustl.edu 37 X 110495724 110495724 + Silent SNP C C A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 110495724 110495724 C A SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known silent c.510 p.L170 0.074 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 30 0 0 26 33 55.9322 DCAF12L1 0 genome.wustl.edu 37 X 125686397 125686397 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 125686397 125686397 G A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known silent c.195 p.P65 0.006 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 55 0 0 43 43 50 ACTRT1 0 genome.wustl.edu 37 X 127185702 127185702 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 127185702 127185702 C T SNP ACTRT1 ENST00000371124 human ensembl 74_37 -1 known missense c.484 p.V162I 0.983 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT1 HGNC ENSG00000123165 108 0 0 96 88 47.8261 GPC3 0 genome.wustl.edu 37 X 132887949 132887949 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 132887949 132887949 G A SNP GPC3 ENST00000394299 human ensembl 74_37 -1 known missense c.592 p.L198F 1.000 pfam_Glypican pfam_Glypican - no_errors GPC3 HGNC ENSG00000147257 107 0 0 212 24 10.1695 GABRE 0 genome.wustl.edu 37 X 151129822 151129822 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 151129822 151129822 G A SNP GABRE ENST00000370328 human ensembl 74_37 -1 known silent c.579 p.A193 0.988 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 46 0 0 39 40 50.6329 MAGEA1 0 genome.wustl.edu 37 X 152482987 152482987 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 152482987 152482987 C T SNP MAGEA1 ENST00000356661 human ensembl 74_37 -1 known silent c.24 p.L8 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA1 HGNC ENSG00000198681 71 0 0 80 8 9.09091 DUSP9 0 genome.wustl.edu 37 X 152915111 152915111 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 152915111 152915111 G A SNP DUSP9 ENST00000342782 human ensembl 74_37 +1 known silent c.798 p.S266 0.999 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 121 0 0 79 51 39.2308 FLNA 0 genome.wustl.edu 37 X 153596065 153596065 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 153596065 153596065 C T SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.664 p.V222I 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 FLNA HGNC ENSG00000196924 101 0 0 81 65 44.5205 PLXNA3 0 genome.wustl.edu 37 X 153693146 153693146 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 153693146 153693146 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.1978 p.R660C 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold 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 PLXNA3 HGNC ENSG00000130827 15 0 0 10 9 47.3684 ZBED1 0 genome.wustl.edu 37 X 2407993 2407993 + Silent SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 2407993 2407993 G A SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known silent c.768 p.I256 0.970 superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 142 0 0 94 52 35.6164 ARX 0 genome.wustl.edu 37 X 25033731 25033731 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 25033731 25033731 G A SNP ARX ENST00000379044 human ensembl 74_37 -1 known missense c.124 p.R42W 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_Antifreeze_1 - no_errors ARX HGNC ENSG00000004848 14 0 0 11 9 45 HDAC6 0 genome.wustl.edu 37 X 48661558 48661558 + Silent SNP A A G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 48661558 48661558 A G SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known silent c.288 p.A96 0.000 NULL pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 20 0 0 23 18 43.9024 PPP1R3F 0 genome.wustl.edu 37 X 49138500 49138500 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 49138500 49138500 C T SNP PPP1R3F ENST00000055335 human ensembl 74_37 +1 known missense c.1117 p.R373C 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 40 0 0 26 9 25.7143 ALAS2 0 genome.wustl.edu 37 X 55039970 55039970 + Missense_Mutation SNP G G A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 55039970 55039970 G A SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.1549 p.R517C 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 49 0 0 26 26 50 SHOX 0 genome.wustl.edu 37 X 591692 591692 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 591692 591692 C T SNP SHOX ENST00000381578 human ensembl 74_37 +1 known silent c.60 p.N20 0.832 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX HGNC ENSG00000185960 243 0 0 177 63 26.25 KAL1 0 genome.wustl.edu 37 X 8503692 8503692 + Silent SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 8503692 8503692 C T SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known silent c.1782 p.T594 0.045 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 34 0 0 25 26 50.9804 PCDH19 0 genome.wustl.edu 37 X 99662749 99662749 + Missense_Mutation SNP C C T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 99662749 99662749 C T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.847 p.D283N 0.981 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 PCDH19 HGNC ENSG00000165194 62 0 0 51 46 47.4227 ENSG00000269175 0 genome.wustl.edu 37 1 101456193 101456193 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 101456193 101456193 A - DEL ENSG00000269175 ENST00000593496 human ensembl 74_37 +1 known frame_shift_del c.187 p.R66fs 0.002 NULL NULL - no_errors AC093157.1 Clone_based_ensembl_gene ENSG00000269175 50 0 0 59 12 16.9014 CSF1 0 genome.wustl.edu 37 1 110466431 110466431 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 110466431 110466431 C - DEL CSF1 ENST00000329608 human ensembl 74_37 +1 known frame_shift_del c.1188 p.P398fs 0.001 pfam_MCSF-1,pirsf_MCSF-1 pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1 - no_errors CSF1 HGNC ENSG00000184371 153 0 0 154 38 19.7917 SLC16A1 0 genome.wustl.edu 37 1 113471890 113471890 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 113471890 113471890 G - DEL SLC16A1 ENST00000369626 human ensembl 74_37 -1 known frame_shift_del c.41 p.P14fs 1.000 tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A1 HGNC ENSG00000155380 61 0 0 77 8 9.41176 ADAM30 0 genome.wustl.edu 37 1 120437094 120437095 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 120437094 120437095 - T INS ADAM30 ENST00000369400 human ensembl 74_37 -1 known frame_shift_ins c.1866_1865 p.N622fs 0.003:0.000 smart_ADAM_Cys-rich 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 ADAM30 HGNC ENSG00000134249 123 0 0 148 35 19.1257 MXRA8 0 genome.wustl.edu 37 1 1290109 1290110 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 1290109 1290110 - G INS MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_ins c.902_901 p.R301fs 0.000:0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 12 0 0 16 6 27.2727 MTMR11 0 genome.wustl.edu 37 1 149902648 149902648 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 149902648 149902648 A - DEL MTMR11 ENST00000492824 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTMR11 HGNC ENSG00000014914 30 0 0 21 12 36.3636 OTUD7B 0 genome.wustl.edu 37 1 149915984 149915984 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 149915984 149915984 G - DEL OTUD7B ENST00000369135 human ensembl 74_37 -1 known frame_shift_del c.2304 p.Y769fs 0.005 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 97 0 0 85 10 10.5263 KPRP 0 genome.wustl.edu 37 1 152732678 152732678 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 152732678 152732678 C - DEL KPRP ENST00000368773 human ensembl 74_37 +1 known frame_shift_del c.614 p.Q207fs 0.000 NULL NULL - no_errors KPRP HGNC ENSG00000203786 254 0 0 284 52 15.4762 PBXIP1 0 genome.wustl.edu 37 1 154920863 154920864 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 154920863 154920864 - G INS PBXIP1 ENST00000490230 human ensembl 74_37 -1 known frame_shift_ins c.424_423 p.C141fs 0.001:0.000 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 14 0 0 13 2 13.3333 GON4L 0 genome.wustl.edu 37 1 155785776 155785777 + RNA INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 155785776 155785777 - A INS GON4L ENST00000471341 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors GON4L HGNC ENSG00000116580 8 0 0 9 3 25 KIAA0907 0 genome.wustl.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 155886422 155886423 CT - DEL KIAA0907 ENST00000368321 human ensembl 74_37 -1 known frame_shift_del c.1547_1546 p.R516fs 1.000:1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 323 1 0.308642 289 88 23.3422 MIB2 0 genome.wustl.edu 37 1 1559205 1559205 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 1559205 1559205 G - DEL MIB2 ENST00000505820 human ensembl 74_37 +1 known frame_shift_del c.644 p.M217fs 1.000 pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ 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 20 0 0 34 5 12.8205 ENSG00000228863 0 genome.wustl.edu 37 1 160640798 160640798 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 160640798 160640798 T - DEL ENSG00000228863 ENST00000598917 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors RP11-404F10.2 Clone_based_vega_gene ENSG00000228863 23 0 0 27 7 20.5882 TIPRL 0 genome.wustl.edu 37 1 168169261 168169262 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 168169261 168169262 - A INS TIPRL ENST00000367833 human ensembl 74_37 +1 known frame_shift_ins c.796_797 p.S268fs 0.001:0.184 NULL pfam_TIP41-like - no_errors TIPRL HGNC ENSG00000143155 65 0 0 92 17 15.5963 CCDC181 0 genome.wustl.edu 37 1 169366580 169366580 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 169366580 169366580 T - DEL CCDC181 ENST00000367806 human ensembl 74_37 -1 known frame_shift_del c.1265 p.K422fs 1.000 NULL NULL - no_errors CCDC181 HGNC ENSG00000117477 39 0 0 60 13 17.8082 PADI3 0 genome.wustl.edu 37 1 17603075 17603075 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 17603075 17603075 C - DEL PADI3 ENST00000375460 human ensembl 74_37 +1 known frame_shift_del c.1369 p.V459fs 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 161 1 0.617284 135 33 19.6429 LAMC2 0 genome.wustl.edu 37 1 183203527 183203528 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 183203527 183203528 - G INS LAMC2 ENST00000264144 human ensembl 74_37 +1 known frame_shift_ins c.2246_2247 p.P751fs 0.011:0.072 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 52 0 0 58 14 19.4444 NEK7 0 genome.wustl.edu 37 1 198222298 198222298 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 198222298 198222298 A - DEL NEK7 ENST00000367385 human ensembl 74_37 +1 known frame_shift_del c.186 p.V65fs 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK7 HGNC ENSG00000151414 88 0 0 202 22 9.82143 DDX59 0 genome.wustl.edu 37 1 200635555 200635556 + Frame_Shift_Ins INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 200635555 200635556 - C INS DDX59 ENST00000331314 human ensembl 74_37 -1 known frame_shift_ins c.314_313 p.E105fs 1.000:1.000 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 82 0 0 104 15 12.605 PLEKHA6 0 genome.wustl.edu 37 1 204228411 204228411 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 204228411 204228411 C - DEL PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_del c.982 p.V328fs 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 100 0 0 108 13 10.7438 TMEM206 0 genome.wustl.edu 37 1 212548596 212548597 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 212548596 212548597 - T INS TMEM206 ENST00000535273 human ensembl 74_37 -1 known frame_shift_ins c.1013_1012 p.S338fs 0.027:0.016 NULL NULL - no_errors TMEM206 HGNC ENSG00000065600 136 1 0.729927 129 41 24.1176 HSPG2 0 genome.wustl.edu 37 1 22155955 22155955 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 22155955 22155955 C - DEL HSPG2 ENST00000374695 human ensembl 74_37 -1 known frame_shift_del c.11913 p.K3972fs 0.556 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 99 0 0 121 11 8.33333 ENSG00000272750 0 genome.wustl.edu 37 1 222832218 222832218 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 222832218 222832218 T - DEL ENSG00000272750 ENST00000608771 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-378J18.8 Clone_based_vega_gene ENSG00000272750 46 0 0 48 16 25 OBSCN 0 genome.wustl.edu 37 1 228556591 228556592 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 228556591 228556592 - T INS OBSCN ENST00000422127 human ensembl 74_37 +1 known frame_shift_ins c.19936_19937 p.W6647fs 1.000:1.000 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_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 124 0 0 152 19 11.1111 PCNXL2 0 genome.wustl.edu 37 1 233372595 233372595 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 233372595 233372595 G - DEL PCNXL2 ENST00000258229 human ensembl 74_37 -1 known frame_shift_del c.2354 p.P785fs 0.991 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 210 0 0 248 40 13.8889 PCNXL2 0 genome.wustl.edu 37 1 233394457 233394457 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 233394457 233394457 G - DEL PCNXL2 ENST00000258229 human ensembl 74_37 -1 known frame_shift_del c.1151 p.P384fs 0.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 96 0 0 156 44 22 KIAA1804 0 genome.wustl.edu 37 1 233514890 233514890 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 233514890 233514890 C - DEL KIAA1804 ENST00000366624 human ensembl 74_37 +1 known frame_shift_del c.2138 p.Q715fs 0.128 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 115 0 0 116 29 20 CHRM3 0 genome.wustl.edu 37 1 240072444 240072444 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 79 0 0 111 18 13.9535 TCEB3 0 genome.wustl.edu 37 1 24078403 24078404 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 24078403 24078404 - A INS TCEB3 ENST00000418390 human ensembl 74_37 +1 known frame_shift_ins c.1386_1387 p.N464fs 0.949:0.998 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 245 0 0 274 56 16.9697 OR2T8 0 genome.wustl.edu 37 1 248084550 248084551 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 248084550 248084551 - A INS OR2T8 ENST00000319968 human ensembl 74_37 +1 known frame_shift_ins c.231_232 p.M78fs 0.006:0.004 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 OR2T8 HGNC ENSG00000177462 251 0 0 286 38 11.7284 ARID1A 0 genome.wustl.edu 37 1 27101438 27101438 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 27101438 27101438 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.4720 p.P1575fs 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 72 0 0 109 31 22.1429 MAP3K6 0 genome.wustl.edu 37 1 27687422 27687423 + Frame_Shift_Ins INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 27687422 27687423 - C INS MAP3K6 ENST00000357582 human ensembl 74_37 -1 known frame_shift_ins c.1910_1909 p.E637fs 1.000:0.994 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 - no_errors MAP3K6 HGNC ENSG00000142733 24 0 0 40 8 16.6667 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 19 0 0 29 3 9.375 RNF19B 0 genome.wustl.edu 37 1 33402541 33402541 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 33402541 33402541 G - DEL RNF19B ENST00000373456 human ensembl 74_37 -1 known frame_shift_del c.2065 p.R689fs 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 183 0 0 180 16 8.16327 ZMYM4 0 genome.wustl.edu 37 1 35846960 35846960 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 35846960 35846960 A - DEL ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_del c.1282 p.K430fs 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 158 0 0 151 27 15.1685 RLF 0 genome.wustl.edu 37 1 40702138 40702139 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 40702138 40702139 - A INS RLF ENST00000372771 human ensembl 74_37 +1 known frame_shift_ins c.1764_1765 p.F590fs 0.996:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 86 0 0 144 41 22.1622 CTPS1 0 genome.wustl.edu 37 1 41462979 41462979 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 41462979 41462979 T - DEL CTPS1 ENST00000486889 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors CTPS1 HGNC ENSG00000171793 49 0 0 65 19 22.619 HIVEP3 0 genome.wustl.edu 37 1 42046106 42046108 + In_Frame_Del DEL CCT CCT - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 42046106 42046108 CCT - DEL HIVEP3 ENST00000247584 human ensembl 74_37 -1 known in_frame_del c.4363_4361 p.E1454in_frame_del 0.982:0.922:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 247 0 0 253 35 12.1528 WDR65 0 genome.wustl.edu 37 1 43649306 43649306 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 43649306 43649306 A - DEL WDR65 ENST00000528956 human ensembl 74_37 +1 known frame_shift_del c.519 p.N174fs 0.990 superfamily_WD40_repeat_dom,smart_WD40_repeat 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 80 0 0 126 30 19.2308 ZCCHC11 0 genome.wustl.edu 37 1 52991780 52991780 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 52991780 52991780 T - DEL ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known frame_shift_del c.173 p.N58fs 0.998 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 140 0 0 153 24 13.5593 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 84 0 0 57 35 38.0435 ALG6 0 genome.wustl.edu 37 1 63836751 63836751 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 63836751 63836751 A - DEL ALG6 ENST00000487136 human ensembl 74_37 +1 known frame_shift_del c.103 p.T38fs 0.000 NULL NULL - no_errors ALG6 HGNC ENSG00000088035 114 0 0 98 17 14.7826 TTLL7 0 genome.wustl.edu 37 1 84335594 84335594 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 84335594 84335594 A - DEL TTLL7 ENST00000472688 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TTLL7 HGNC ENSG00000137941 48 0 0 55 15 21.4286 CTBS 0 genome.wustl.edu 37 1 85020568 85020568 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 85020568 85020568 T - DEL CTBS ENST00000477677 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTBS HGNC ENSG00000117151 10 0 0 21 10 32.2581 CLCA3P 0 genome.wustl.edu 37 1 87108245 87108246 + RNA INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 87108245 87108246 - A INS CLCA3P ENST00000284054 human ensembl 74_37 +1 known rna NULL NULL 0.095:0.018 - - - no_errors CLCA3P HGNC ENSG00000153923 24 0 0 38 6 13.6364 PKN2 0 genome.wustl.edu 37 1 89298681 89298681 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 89298681 89298681 T - DEL PKN2 ENST00000495119 human ensembl 74_37 +1 known rna NULL NULL 0.054 - - - no_errors PKN2 HGNC ENSG00000065243 12 0 0 17 6 26.087 GBP7 0 genome.wustl.edu 37 1 89599010 89599011 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 89599010 89599011 - T INS GBP7 ENST00000294671 human ensembl 74_37 -1 known frame_shift_ins c.1593_1592 p.K532fs 0.000:0.000 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 253 0 0 285 80 21.9178 ZNF644 0 genome.wustl.edu 37 1 91382413 91382413 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 91382413 91382413 T - DEL ZNF644 ENST00000337393 human ensembl 74_37 -1 known frame_shift_del c.3926 p.K1309fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 78 0 0 89 22 19.8198 CDC7 0 genome.wustl.edu 37 1 91967357 91967357 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 91967357 91967357 A - DEL CDC7 ENST00000234626 human ensembl 74_37 +1 known frame_shift_del c.84 p.N31fs 0.083 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 CDC7 HGNC ENSG00000097046 190 0 0 226 55 19.573 BCAR3 0 genome.wustl.edu 37 1 94032937 94032937 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 94032937 94032937 T - DEL BCAR3 ENST00000260502 human ensembl 74_37 -1 known frame_shift_del c.2198 p.N733fs 0.995 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 107 0 0 109 35 24.3056 AGRN 0 genome.wustl.edu 37 1 981860 981861 + Frame_Shift_Ins INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 1 981860 981861 - C INS AGRN ENST00000379370 human ensembl 74_37 +1 known frame_shift_ins c.2995_2996 p.G1002fs 0.000:0.000 NULL pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 32 0 0 48 9 15.7895 GBF1 0 genome.wustl.edu 37 10 104120909 104120909 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 104120909 104120909 A - DEL GBF1 ENST00000476019 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GBF1 HGNC ENSG00000107862 49 0 0 55 9 14.0625 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 143 0 0 163 27 14.2105 KIAA1598 0 genome.wustl.edu 37 10 118719757 118719757 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 118719757 118719757 A - DEL KIAA1598 ENST00000490615 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA1598 HGNC ENSG00000187164 45 0 0 80 22 21.5686 INPP5F 0 genome.wustl.edu 37 10 121551680 121551681 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 121551680 121551681 - T INS INPP5F ENST00000361976 human ensembl 74_37 +1 known frame_shift_ins c.624_625 p.W210fs 0.999:1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 96 0 0 117 30 20.4082 OAT 0 genome.wustl.edu 37 10 126091634 126091634 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 126091634 126091634 A - DEL OAT ENST00000471127 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OAT HGNC ENSG00000065154 184 1 0.540541 200 46 18.6992 ZRANB1 0 genome.wustl.edu 37 10 126673560 126673561 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 126673560 126673561 - A INS ZRANB1 ENST00000359653 human ensembl 74_37 +1 known frame_shift_ins c.2126_2127 p.*710fs 1.000:0.994 NULL pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 16 0 0 28 7 20 MKI67 0 genome.wustl.edu 37 10 129905111 129905112 + Frame_Shift_Ins INS - - TG TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 129905111 129905112 - TG INS MKI67 ENST00000368654 human ensembl 74_37 -1 known frame_shift_ins c.4993_4992 p.E1664fs 0.000:0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 270 0 0 416 109 20.7619 FUOM 0 genome.wustl.edu 37 10 135169074 135169074 + RNA DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 135169074 135169074 C - DEL FUOM ENST00000478895 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FUOM HGNC ENSG00000148803 43 0 0 46 19 29.2308 MTG1 0 genome.wustl.edu 37 10 135233645 135233645 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 135233645 135233645 C - DEL MTG1 ENST00000317502 human ensembl 74_37 +1 known frame_shift_del c.981 p.P329fs 0.000 NULL pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF - no_errors MTG1 HGNC ENSG00000148824 113 0 0 141 11 7.23684 FRMD4A 0 genome.wustl.edu 37 10 13696451 13696452 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 13696451 13696452 - G INS FRMD4A ENST00000357447 human ensembl 74_37 -1 known frame_shift_ins c.3015_3014 p.S1006fs 0.992:1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 133 0 0 142 11 7.18954 KIAA1217 0 genome.wustl.edu 37 10 24833919 24833919 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 24833919 24833919 G - DEL KIAA1217 ENST00000376454 human ensembl 74_37 +1 known frame_shift_del c.5221 p.A1742fs 0.215 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 250 0 0 315 27 7.89474 WAC 0 genome.wustl.edu 37 10 28908508 28908508 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 28908508 28908508 A - DEL WAC ENST00000354911 human ensembl 74_37 +1 known frame_shift_del c.1917 p.N641fs 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 60 0 0 68 18 20.9302 ENSG00000243349 0 genome.wustl.edu 37 10 45652303 45652304 + RNA INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 45652303 45652304 - A INS ENSG00000243349 ENST00000427229 human ensembl 74_37 +1 known rna NULL NULL 0.299:0.277 - - - no_errors RP11-445N18.7 Clone_based_vega_gene ENSG00000243349 31 0 0 35 10 22.2222 SYT15 0 genome.wustl.edu 37 10 46964014 46964015 + Frame_Shift_Del DEL AC AC - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 46964014 46964015 AC - DEL SYT15 ENST00000374323 human ensembl 74_37 -1 known frame_shift_del c.1108_1107 p.F370fs 0.992:0.996 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT15 HGNC ENSG00000204176 121 0 0 134 10 6.94444 NET1 0 genome.wustl.edu 37 10 5495005 5495005 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 5495005 5495005 T - DEL NET1 ENST00000465087 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NET1 HGNC ENSG00000173848 21 0 0 29 9 23.6842 FAM13C 0 genome.wustl.edu 37 10 61011259 61011260 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 61011259 61011260 - A INS FAM13C ENST00000435852 human ensembl 74_37 -1 putative frame_shift_ins c.1710_1709 p.L570fs 0.001:0.008 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 93 0 0 128 38 22.8916 KCNMA1 0 genome.wustl.edu 37 10 78943216 78943216 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 78943216 78943216 G - DEL KCNMA1 ENST00000406533 human ensembl 74_37 -1 known frame_shift_del c.771 p.V258fs 0.005 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 27 0 0 75 7 8.53659 IDE 0 genome.wustl.edu 37 10 94294479 94294479 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 94294479 94294479 A - DEL IDE ENST00000265986 human ensembl 74_37 -1 known frame_shift_del c.347 p.L116fs 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 69 0 0 63 21 25 ZNF518A 0 genome.wustl.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 10 97918856 97918856 A - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 40 0 0 65 18 21.6867 CASP5 0 genome.wustl.edu 37 11 104879687 104879687 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 104879687 104879687 T - DEL CASP5 ENST00000393141 human ensembl 74_37 -1 known frame_shift_del c.67 p.R23fs 0.000 NULL pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 40 0 0 81 14 14.7368 NPAT 0 genome.wustl.edu 37 11 108044069 108044069 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 108044069 108044069 T - DEL NPAT ENST00000278612 human ensembl 74_37 -1 known frame_shift_del c.1642 p.S548fs 0.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 61 0 0 80 25 23.8095 NXPE1 0 genome.wustl.edu 37 11 114393133 114393134 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 114393133 114393134 - T INS NXPE1 ENST00000424269 human ensembl 74_37 -1 known frame_shift_ins c.1201_1200 p.H400fs 0.443:0.117 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 78 0 0 161 35 17.8571 CD3G 0 genome.wustl.edu 37 11 118220583 118220583 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 118220583 118220583 A - DEL CD3G ENST00000532917 human ensembl 74_37 +1 known frame_shift_del c.205 p.K71fs 0.000 smart_Ig_sub2 pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3G HGNC ENSG00000160654 140 0 0 128 41 24.2604 MFRP 0 genome.wustl.edu 37 11 119213688 119213688 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 30 0 0 28 8 22.2222 SORL1 0 genome.wustl.edu 37 11 121475905 121475905 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 231 1 0.431034 240 52 17.8082 CHEK1 0 genome.wustl.edu 37 11 125505378 125505378 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 125505378 125505378 A - DEL CHEK1 ENST00000438015 human ensembl 74_37 +1 known frame_shift_del c.668 p.T226fs 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 CHEK1 HGNC ENSG00000149554 124 0 0 150 36 19.3548 SRPR 0 genome.wustl.edu 37 11 126137087 126137087 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 126137087 126137087 T - DEL SRPR ENST00000332118 human ensembl 74_37 -1 known frame_shift_del c.509 p.K170fs 0.991 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 549 1 0.181818 477 112 19.0153 NTM 0 genome.wustl.edu 37 11 131240692 131240692 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 131240692 131240692 A - DEL NTM ENST00000477098 human ensembl 74_37 +1 putative rna NULL NULL 0.619 - - - no_errors NTM HGNC ENSG00000182667 68 0 0 88 16 15.3846 KCNA4 0 genome.wustl.edu 37 11 30033563 30033563 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 30033563 30033563 A - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.663 p.F221fs 0.902 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv1.4_TID,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_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 111 0 0 100 22 18.0328 ARL14EP 0 genome.wustl.edu 37 11 30352753 30352754 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 30352753 30352754 - A INS ARL14EP ENST00000282032 human ensembl 74_37 +1 known frame_shift_ins c.258_259 p.N88fs 0.999:1.000 NULL NULL - no_errors ARL14EP HGNC ENSG00000152219 151 0 0 198 45 18.5185 PAMR1 0 genome.wustl.edu 37 11 35513670 35513670 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 35513670 35513670 C - DEL PAMR1 ENST00000278360 human ensembl 74_37 -1 known frame_shift_del c.302 p.G101fs 0.999 smart_EG-like_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 406 0 0 478 83 14.795 GYLTL1B 0 genome.wustl.edu 37 11 45948373 45948373 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 45948373 45948373 C - DEL GYLTL1B ENST00000325468 human ensembl 74_37 +1 known frame_shift_del c.1276 p.R428fs 0.023 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 82 0 0 98 20 16.9492 LRP4 0 genome.wustl.edu 37 11 46911510 46911510 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 46911510 46911510 G - DEL LRP4 ENST00000378623 human ensembl 74_37 -1 known frame_shift_del c.2077 p.Q693fs 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 146 0 0 161 32 16.5803 ARFGAP2 0 genome.wustl.edu 37 11 47196853 47196853 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 47196853 47196853 A - DEL ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known frame_shift_del c.276 p.R93fs 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 189 0 0 211 20 8.65801 OR4C11 0 genome.wustl.edu 37 11 55371595 55371596 + Frame_Shift_Del DEL AG AG - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 55371595 55371596 AG - DEL OR4C11 ENST00000302231 human ensembl 74_37 -1 known frame_shift_del c.255_254 p.S85fs 0.000:0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 102 0 0 168 39 18.8406 OR4P4 0 genome.wustl.edu 37 11 55406142 55406142 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 55406142 55406142 T - DEL OR4P4 ENST00000314612 human ensembl 74_37 +1 known frame_shift_del c.309 p.F105fs 0.097 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 OR4P4 HGNC ENSG00000181927 125 0 0 272 47 14.7335 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 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,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 16 0 0 53 28 34.5679 SYT7 0 genome.wustl.edu 37 11 61291307 61291307 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 61291307 61291307 C - DEL SYT7 ENST00000263846 human ensembl 74_37 -1 known frame_shift_del c.899 p.G300fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 601 0 0 561 110 16.3934 RPLP0P2 0 genome.wustl.edu 37 11 61405179 61405180 + RNA DEL AA AA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 61405179 61405180 AA - DEL RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 0.975:0.974 - - - no_errors RPLP0P2 HGNC ENSG00000243742 26 0 0 40 6 13.0435 CDHR5 0 genome.wustl.edu 37 11 618807 618807 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 618807 618807 G - DEL CDHR5 ENST00000358353 human ensembl 74_37 -1 known frame_shift_del c.1752 p.S585fs 0.006 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 207 0 0 232 30 11.4504 CDHR5 0 genome.wustl.edu 37 11 618999 618999 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 618999 618999 C - DEL CDHR5 ENST00000358353 human ensembl 74_37 -1 known frame_shift_del c.1560 p.P522fs 0.000 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 247 0 0 216 41 15.9533 RTN3 0 genome.wustl.edu 37 11 63525788 63525788 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 63525788 63525788 T - DEL RTN3 ENST00000354497 human ensembl 74_37 +1 putative frame_shift_del c.570 p.L193fs 0.998 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 62 0 0 74 19 20.4301 MARK2 0 genome.wustl.edu 37 11 63670244 63670244 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 63670244 63670244 C - DEL MARK2 ENST00000402010 human ensembl 74_37 +1 known frame_shift_del c.1406 p.S471fs 0.906 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 48 0 0 62 12 16.2162 MALAT1 0 genome.wustl.edu 37 11 65268480 65268481 + RNA DEL TT TT - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 65268480 65268481 TT - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 38 0 0 31 16 34.0426 PPP1CA 0 genome.wustl.edu 37 11 67165933 67165933 + RNA DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 67165933 67165933 C - DEL PPP1CA ENST00000532446 human ensembl 74_37 -1 known rna NULL NULL 0.080 - - - no_errors PPP1CA HGNC ENSG00000172531 27 0 0 31 7 18.4211 ORAOV1 0 genome.wustl.edu 37 11 69488078 69488079 + Frame_Shift_Ins INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 69488078 69488079 - C INS ORAOV1 ENST00000279147 human ensembl 74_37 -1 known frame_shift_ins c.62_61 p.E21fs 1.000:1.000 NULL pfam_Essential_protein_Yae1_N - no_errors ORAOV1 HGNC ENSG00000149716 134 0 0 154 30 16.3043 PPFIA1 0 genome.wustl.edu 37 11 70183500 70183500 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 70183500 70183500 A - DEL PPFIA1 ENST00000253925 human ensembl 74_37 +1 known frame_shift_del c.1458 p.K488fs 0.002 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 41 0 0 34 12 26.087 POLD3 0 genome.wustl.edu 37 11 74336609 74336609 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 74336609 74336609 A - DEL POLD3 ENST00000263681 human ensembl 74_37 +1 known frame_shift_del c.890 p.R300fs 0.998 pfam_DNA_polymerase_subunit_Cdc27 pfam_DNA_polymerase_subunit_Cdc27 - no_errors POLD3 HGNC ENSG00000077514 60 0 0 53 21 28.3784 ENSG00000254988 0 genome.wustl.edu 37 11 76669997 76669998 + RNA INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 76669997 76669998 - T INS ENSG00000254988 ENST00000530190 human ensembl 74_37 -1 known rna NULL NULL 0.973:0.003 - - - no_errors CTD-2547H18.1 Clone_based_vega_gene ENSG00000254988 85 0 0 87 25 22.3214 RIC3 0 genome.wustl.edu 37 11 8160039 8160041 + RNA DEL AAA AAA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 8160039 8160041 AAA - DEL RIC3 ENST00000524799 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors RIC3 HGNC ENSG00000166405 9 0 0 18 5 21.7391 C11orf82 0 genome.wustl.edu 37 11 82644463 82644463 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 82644463 82644463 A - DEL C11orf82 ENST00000430323 human ensembl 74_37 +1 known frame_shift_del c.2083 p.K696fs 0.029 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold - no_errors C11orf82 HGNC ENSG00000165490 239 0 0 260 52 16.6667 SCARNA9 0 genome.wustl.edu 37 11 93454920 93454921 + RNA INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 93454920 93454921 - G INS SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.007:0.011 - - - no_errors SCARNA9 HGNC ENSG00000254911 41 0 0 53 13 19.697 HEPHL1 0 genome.wustl.edu 37 11 93808491 93808491 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 93808491 93808491 T - DEL HEPHL1 ENST00000315765 human ensembl 74_37 +1 known frame_shift_del c.1656 p.G553fs 0.999 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 24 0 0 69 17 19.7674 CEP57 0 genome.wustl.edu 37 11 95555113 95555113 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 11 95555113 95555113 A - DEL CEP57 ENST00000325542 human ensembl 74_37 +1 known frame_shift_del c.778 p.K262fs 1.000 pfam_Cep57_MT-bd_dom pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 32 0 0 52 10 16.129 TAS2R8 0 genome.wustl.edu 37 12 10958846 10958846 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 10958846 10958846 A - DEL TAS2R8 ENST00000240615 human ensembl 74_37 -1 known frame_shift_del c.734 p.F245fs 0.001 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R8 HGNC ENSG00000121314 28 0 0 85 28 24.7788 TAS2R9 0 genome.wustl.edu 37 12 10962115 10962115 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 10962115 10962115 A - DEL TAS2R9 ENST00000240691 human ensembl 74_37 -1 known frame_shift_del c.560 p.V187fs 0.000 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R9 HGNC ENSG00000121381 27 0 0 113 20 15.0376 SLC8B1 0 genome.wustl.edu 37 12 113758221 113758223 + In_Frame_Del DEL GAA GAA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 113758221 113758223 GAA - DEL SLC8B1 ENST00000202831 human ensembl 74_37 -1 known in_frame_del c.609_607 p.F203in_frame_del 1.000:1.000:1.000 pfam_NaCa_Exmemb pfam_NaCa_Exmemb - no_errors SLC8B1 HGNC ENSG00000089060 438 0 0 403 75 15.6904 PRB4 0 genome.wustl.edu 37 12 11461669 11461669 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 11461669 11461669 G - DEL PRB4 ENST00000279575 human ensembl 74_37 -1 known frame_shift_del c.248 p.P83fs 0.167 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 999 0 0 1452 78 5.09804 SRSF9 0 genome.wustl.edu 37 12 120903592 120903593 + Splice_Site INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 120903592 120903593 - A INS SRSF9 ENST00000229390 human ensembl 74_37 -1 known splice_site_ins c.189-3_189-2 e2-2 1.000:0.228 - - - no_errors SRSF9 HGNC ENSG00000111786 60 0 0 70 5 6.66667 MLEC 0 genome.wustl.edu 37 12 121134157 121134158 + In_Frame_Ins INS - - AAG TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 121134157 121134158 - AAG INS MLEC ENST00000228506 human ensembl 74_37 +1 known in_frame_ins c.688_689 p.234in_frame_insE 1.000:1.000 NULL pfam_Malectin - no_errors MLEC HGNC ENSG00000110917 233 0 0 321 68 17.4807 HNF1A 0 genome.wustl.edu 37 12 121432117 121432118 + Frame_Shift_Del DEL GC GC - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 121432117 121432118 GC - DEL HNF1A ENST00000257555 human ensembl 74_37 +1 known frame_shift_del c.864_865 p.P291fs 0.998:1.000 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 14 0 0 18 2 10 P2RX4 0 genome.wustl.edu 37 12 121666642 121666643 + Frame_Shift_Del DEL AC AC - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 121666642 121666643 AC - DEL P2RX4 ENST00000337233 human ensembl 74_37 +1 known frame_shift_del c.720_721 p.H241fs 0.051:0.740 pfam_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX4 HGNC ENSG00000135124 216 0 0 215 54 20.0743 NCOR2 0 genome.wustl.edu 37 12 124832800 124832801 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 124832800 124832801 - G INS NCOR2 ENST00000356219 human ensembl 74_37 -1 known frame_shift_ins c.3926_3925 p.H1309fs 0.936:0.940 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 107 0 0 118 17 12.5926 ZNF10 0 genome.wustl.edu 37 12 133732700 133732701 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 133732700 133732701 - A INS ZNF10 ENST00000248211 human ensembl 74_37 +1 known frame_shift_ins c.868_869 p.P292fs 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 ZNF10 HGNC ENSG00000256223 85 0 0 128 29 18.4713 TM7SF3 0 genome.wustl.edu 37 12 27152717 27152717 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 27152717 27152717 A - DEL TM7SF3 ENST00000539399 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TM7SF3 HGNC ENSG00000064115 29 0 0 21 6 22.2222 KMT2D 0 genome.wustl.edu 37 12 49445526 49445526 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 49445526 49445526 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.1940 p.P647fs 0.001 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 81 0 0 89 22 19.8198 TUBA1A 0 genome.wustl.edu 37 12 49580268 49580268 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 49580268 49580268 G - DEL TUBA1A ENST00000546918 human ensembl 74_37 -1 putative frame_shift_del c.352 p.L118fs 0.061 NULL pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Alpha_tubulin - no_errors TUBA1A HGNC ENSG00000167552 114 0 0 121 25 17.1233 PRPF40B 0 genome.wustl.edu 37 12 50025258 50025258 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 50025258 50025258 C - DEL PRPF40B ENST00000548825 human ensembl 74_37 +1 known frame_shift_del c.159 p.M56fs 0.994 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 339 1 0.294118 298 83 21.7848 ACVR1B 0 genome.wustl.edu 37 12 52380736 52380736 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 52380736 52380736 T - DEL ACVR1B ENST00000415850 human ensembl 74_37 +1 known frame_shift_del c.1271 p.C426fs 0.007 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_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 ACVR1B HGNC ENSG00000135503 138 0 0 163 30 15.544 ATF7 0 genome.wustl.edu 37 12 53928408 53928408 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 53928408 53928408 G - DEL ATF7 ENST00000328463 human ensembl 74_37 -1 known frame_shift_del c.471 p.T158fs 0.951 pirsf_TF_cAMP-dep pfam_bZIP,smart_Znf_C2H2-like,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors ATF7 HGNC ENSG00000170653 99 0 0 116 21 15.3285 CBX5 0 genome.wustl.edu 37 12 54645832 54645832 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 54645832 54645832 T - DEL CBX5 ENST00000209875 human ensembl 74_37 -1 known frame_shift_del c.317 p.K106fs 1.000 superfamily_Chromodomain-like pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX5 HGNC ENSG00000094916 382 1 0.261097 372 93 20 OR6C76 0 genome.wustl.edu 37 12 55820730 55820730 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 55820730 55820730 A - DEL OR6C76 ENST00000328314 human ensembl 74_37 +1 known frame_shift_del c.693 p.A234fs 0.602 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 OR6C76 HGNC ENSG00000185821 40 0 0 58 14 19.4444 OR6C76 0 genome.wustl.edu 37 12 55820959 55820960 + Frame_Shift_Del DEL AA AA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 55820959 55820960 AA - DEL OR6C76 ENST00000328314 human ensembl 74_37 +1 known frame_shift_del c.922_923 p.K311fs 0.016:0.019 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC ENSG00000185821 24 0 0 42 19 31.1475 NACA 0 genome.wustl.edu 37 12 57114418 57114418 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 57114418 57114418 G - DEL NACA ENST00000454682 human ensembl 74_37 -1 known frame_shift_del c.896 p.P299fs 0.016 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 72 0 0 88 24 21.4286 ARHGEF25 0 genome.wustl.edu 37 12 58006825 58006825 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 58006825 58006825 C - DEL ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known frame_shift_del c.327 p.P111fs 0.323 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 77 0 0 91 15 14.1509 CD9 0 genome.wustl.edu 37 12 6347089 6347089 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 6347089 6347089 T - DEL CD9 ENST00000481267 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors CD9 HGNC ENSG00000010278 18 0 0 16 6 27.2727 NUP107 0 genome.wustl.edu 37 12 69126366 69126366 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 69126366 69126366 A - DEL NUP107 ENST00000401003 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NUP107 HGNC ENSG00000111581 14 0 0 14 16 53.3333 ZFC3H1 0 genome.wustl.edu 37 12 72038781 72038781 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 72038781 72038781 T - DEL ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known frame_shift_del c.1155 p.K385fs 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 43 0 0 75 21 21.875 OTOGL 0 genome.wustl.edu 37 12 80750687 80750687 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 80750687 80750687 T - DEL OTOGL ENST00000458043 human ensembl 74_37 +1 known frame_shift_del c.5985 p.C1997fs 0.993 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 21 0 0 56 8 12.5 MGAT4C 0 genome.wustl.edu 37 12 86374168 86374168 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 86374168 86374168 T - DEL MGAT4C ENST00000393205 human ensembl 74_37 -1 known frame_shift_del c.423 p.G142fs 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 42 0 0 57 20 25.974 ATP2B1 0 genome.wustl.edu 37 12 90028897 90028898 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 12 90028897 90028898 - T INS ATP2B1 ENST00000261173 human ensembl 74_37 -1 known frame_shift_ins c.538_537 p.Q179fs 1.000:0.960 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 154 0 0 232 47 16.8459 PCID2 0 genome.wustl.edu 37 13 113834514 113834514 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 113834514 113834514 T - DEL PCID2 ENST00000246505 human ensembl 74_37 -1 known frame_shift_del c.980 p.K327fs 1.000 smart_PAM pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 195 0 0 194 47 19.5021 SAP18 0 genome.wustl.edu 37 13 21720931 21720931 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 21720931 21720931 A - DEL SAP18 ENST00000471009 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors SAP18 HGNC ENSG00000150459 49 0 0 65 13 16.6667 C1QTNF9B 0 genome.wustl.edu 37 13 24465712 24465713 + Frame_Shift_Ins INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 24465712 24465713 - C INS C1QTNF9B ENST00000382137 human ensembl 74_37 -1 known frame_shift_ins c.718_717 p.K239fs 0.981:0.959 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 C1QTNF9B HGNC ENSG00000205863 320 0 0 332 73 18.0247 RNF17 0 genome.wustl.edu 37 13 25362211 25362211 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 25362211 25362211 A - DEL RNF17 ENST00000255324 human ensembl 74_37 +1 known frame_shift_del c.697 p.N235fs 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 36 0 0 67 26 27.957 WASF3 0 genome.wustl.edu 37 13 27255387 27255387 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 27255387 27255387 C - DEL WASF3 ENST00000335327 human ensembl 74_37 +1 known frame_shift_del c.913 p.P307fs 0.975 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 103 0 0 112 38 25.3333 NAA16 0 genome.wustl.edu 37 13 41941577 41941577 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 41941577 41941577 T - DEL NAA16 ENST00000379406 human ensembl 74_37 +1 known frame_shift_del c.1542 p.F516fs 1.000 pirsf_NatA_aux_su pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 53 0 0 80 23 22.3301 ABCC4 0 genome.wustl.edu 37 13 95727814 95727817 + RNA DEL ACAG ACAG - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 ACAG ACAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 95727814 95727817 ACAG - DEL ABCC4 ENST00000467685 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors ABCC4 HGNC ENSG00000125257 52 0 0 84 14 14.2857 ABCC4 0 genome.wustl.edu 37 13 95735449 95735449 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 13 95735449 95735449 A - DEL ABCC4 ENST00000376887 human ensembl 74_37 -1 known frame_shift_del c.2631 p.L878fs 0.318 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 74 0 0 100 15 13.0435 TEP1 0 genome.wustl.edu 37 14 20846338 20846338 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 20846338 20846338 C - DEL TEP1 ENST00000262715 human ensembl 74_37 -1 known frame_shift_del c.5566 p.V1856fs 0.030 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 198 0 0 203 20 8.96861 AP1G2 0 genome.wustl.edu 37 14 24036397 24036397 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 24036397 24036397 C - DEL AP1G2 ENST00000308724 human ensembl 74_37 -1 known frame_shift_del c.127 p.D43fs 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 73 0 0 75 10 11.7647 NYNRIN 0 genome.wustl.edu 37 14 24877215 24877215 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 24877215 24877215 C - DEL NYNRIN ENST00000382554 human ensembl 74_37 +1 known frame_shift_del c.339 p.P115fs 0.001 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 115 0 0 138 16 10.3896 SEC23A 0 genome.wustl.edu 37 14 39533937 39533937 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 39533937 39533937 T - DEL SEC23A ENST00000553925 human ensembl 74_37 -1 putative rna NULL NULL 0.006 - - - no_errors SEC23A HGNC ENSG00000100934 9 0 0 9 3 25 MIS18BP1 0 genome.wustl.edu 37 14 45693722 45693722 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 45693722 45693722 T - DEL MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known frame_shift_del c.2068 p.S690fs 0.797 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 244 0 0 211 78 26.9896 ARID4A 0 genome.wustl.edu 37 14 58817949 58817949 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 58817949 58817949 A - DEL ARID4A ENST00000355431 human ensembl 74_37 +1 known frame_shift_del c.1563 p.N523fs 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 164 0 0 218 53 19.5572 JKAMP 0 genome.wustl.edu 37 14 59951744 59951744 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 59951744 59951744 A - DEL JKAMP ENST00000557560 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors JKAMP HGNC ENSG00000050130 47 0 0 41 12 22.6415 PPP1R36 0 genome.wustl.edu 37 14 65035126 65035126 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 67 0 0 62 14 18.4211 ENSG00000259648 0 genome.wustl.edu 37 14 68082888 68082888 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 68082888 68082888 A - DEL ENSG00000259648 ENST00000559968 human ensembl 74_37 +1 known rna NULL NULL 0.971 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 46 0 0 82 24 22.6415 SRSF5 0 genome.wustl.edu 37 14 70238228 70238228 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 70238228 70238228 A - DEL SRSF5 ENST00000556587 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors SRSF5 HGNC ENSG00000100650 63 0 0 93 27 22.5 DPF3 0 genome.wustl.edu 37 14 73190445 73190445 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 73190445 73190445 A - DEL DPF3 ENST00000556238 human ensembl 74_37 -1 known rna NULL NULL 0.887 - - - no_errors DPF3 HGNC ENSG00000205683 122 1 0.813008 134 52 27.957 C14orf169 0 genome.wustl.edu 37 14 73959864 73959864 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 73959864 73959864 A - DEL C14orf169 ENST00000531973 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C14orf169 HGNC ENSG00000255242 86 0 0 101 30 22.9008 TTLL5 0 genome.wustl.edu 37 14 76420882 76420882 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 76420882 76420882 T - DEL TTLL5 ENST00000554972 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors TTLL5 HGNC ENSG00000119685 61 0 0 69 11 13.75 STON2 0 genome.wustl.edu 37 14 81743374 81743374 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 14 81743374 81743374 C - DEL STON2 ENST00000267540 human ensembl 74_37 -1 known frame_shift_del c.2281 p.A761fs 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 137 0 0 188 43 18.6147 EIF3J 0 genome.wustl.edu 37 15 44843099 44843099 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 114 0 0 170 31 15.4229 ENSG00000259479 0 genome.wustl.edu 37 15 45123755 45123756 + RNA INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 45123755 45123756 - C INS ENSG00000259479 ENST00000561384 human ensembl 74_37 -1 putative rna NULL NULL 0.632:0.983 - - - no_errors CTD-2008A1.2 Clone_based_vega_gene ENSG00000259479 13 0 0 17 3 15 AP4E1 0 genome.wustl.edu 37 15 51207860 51207860 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 51207860 51207860 T - DEL AP4E1 ENST00000561004 human ensembl 74_37 +1 putative rna NULL NULL 0.979 - - - no_errors AP4E1 HGNC ENSG00000081014 44 0 0 37 14 27.451 ENSG00000259241 0 genome.wustl.edu 37 15 51987960 51987961 + RNA DEL AA AA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 51987960 51987961 AA - DEL ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.012 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 23 0 0 19 5 20.8333 NARG2 0 genome.wustl.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 60745782 60745782 A - DEL NARG2 ENST00000561114 human ensembl 74_37 -1 putative frame_shift_del c.1145 p.F382fs 0.000 NULL NULL - no_errors NARG2 HGNC ENSG00000128915 29 0 0 63 17 21.25 HERC1 0 genome.wustl.edu 37 15 63918305 63918306 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 63918305 63918306 - G INS HERC1 ENST00000443617 human ensembl 74_37 -1 known frame_shift_ins c.13154_13153 p.Q4385fs 1.000:1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 44 0 0 52 10 16.129 CSNK1G1 0 genome.wustl.edu 37 15 64506165 64506165 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 64506165 64506165 T - DEL CSNK1G1 ENST00000303052 human ensembl 74_37 -1 known frame_shift_del c.603 p.K201fs 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_Casein_kinase-1_gamma_C,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 CSNK1G1 HGNC ENSG00000169118 258 0 0 241 69 22.2581 ZNF609 0 genome.wustl.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 313 0 0 300 55 15.493 STRA6 0 genome.wustl.edu 37 15 74494643 74494643 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 74494643 74494643 A - DEL STRA6 ENST00000573456 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors STRA6 HGNC ENSG00000137868 29 0 0 30 4 11.7647 BNC1 0 genome.wustl.edu 37 15 83932566 83932566 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 83932566 83932566 A - DEL BNC1 ENST00000345382 human ensembl 74_37 -1 known frame_shift_del c.1437 p.N481fs 0.977 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 47 0 0 74 10 11.9048 AKAP13 0 genome.wustl.edu 37 15 86278855 86278855 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 86278855 86278855 A - DEL AKAP13 ENST00000361243 human ensembl 74_37 +1 known frame_shift_del c.7518 p.K2508fs 0.998 NULL pfam_DH-domain,pfam_Pleckstrin_homology,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 AKAP13 HGNC ENSG00000170776 112 0 0 127 20 13.6054 BLM 0 genome.wustl.edu 37 15 91304139 91304139 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 15 91304139 91304139 A - DEL BLM ENST00000355112 human ensembl 74_37 +1 known frame_shift_del c.1536 p.N515fs 0.003 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 101 0 0 124 35 22.0126 TVP23A 0 genome.wustl.edu 37 16 10867203 10867203 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 10867203 10867203 A - DEL TVP23A ENST00000299866 human ensembl 74_37 -1 known frame_shift_del c.420 p.F140fs 1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 106 0 0 92 25 21.3675 MKL2 0 genome.wustl.edu 37 16 14340930 14340931 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 14340930 14340931 - A INS MKL2 ENST00000341243 human ensembl 74_37 +1 known frame_shift_ins c.1780_1781 p.R596fs 1.000:1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 68 0 0 93 17 15.4545 ABCC6 0 genome.wustl.edu 37 16 16251627 16251628 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 16251627 16251628 - G INS ABCC6 ENST00000205557 human ensembl 74_37 -1 known frame_shift_ins c.3775_3774 p.W1258fs 1.000:0.988 superfamily_P-loop_NTPase,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 80 0 0 91 13 12.5 MIR1225 0 genome.wustl.edu 37 16 2140262 2140263 + RNA INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 2140262 2140263 - C INS MIR1225 ENST00000408729 human ensembl 74_37 -1 known rna NULL NULL 0.791:0.789 - - - no_errors MIR1225 HGNC ENSG00000221656 156 0 0 161 37 18.6869 ATP2A1 0 genome.wustl.edu 37 16 28913639 28913640 + Frame_Shift_Ins INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 28913639 28913640 - C INS ATP2A1 ENST00000357084 human ensembl 74_37 +1 known frame_shift_ins c.2456_2457 p.R822fs 0.996:0.957 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 220 1 0.452489 254 24 8.63309 KCTD13 0 genome.wustl.edu 37 16 29923364 29923364 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 29923364 29923364 T - DEL KCTD13 ENST00000308768 human ensembl 74_37 -1 known frame_shift_del c.421 p.R141fs 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD13 HGNC ENSG00000174943 16 0 0 20 2 9.09091 ZNF771 0 genome.wustl.edu 37 16 30419402 30419404 + In_Frame_Del DEL GAG GAG - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 30419402 30419404 GAG - DEL ZNF771 ENST00000319296 human ensembl 74_37 +1 known in_frame_del c.28_30 p.E13in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF771 HGNC ENSG00000179965 27 0 0 45 8 15.0943 PRSS36 0 genome.wustl.edu 37 16 31151860 31151860 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 31151860 31151860 G - DEL PRSS36 ENST00000268281 human ensembl 74_37 -1 known frame_shift_del c.2120 p.P707fs 0.006 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 47 0 0 67 11 14.1026 BBS2 0 genome.wustl.edu 37 16 56532532 56532532 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 56532532 56532532 T - DEL BBS2 ENST00000566410 human ensembl 74_37 -1 putative rna NULL NULL 0.200 - - - no_errors BBS2 HGNC ENSG00000125124 40 0 0 59 11 15.7143 HERPUD1 0 genome.wustl.edu 37 16 56977383 56977383 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 56977383 56977383 A - DEL HERPUD1 ENST00000570273 human ensembl 74_37 +1 known rna NULL NULL 0.511 - - - no_errors HERPUD1 HGNC ENSG00000051108 19 0 0 14 3 17.6471 CNOT1 0 genome.wustl.edu 37 16 58589340 58589340 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 58589340 58589340 A - DEL CNOT1 ENST00000317147 human ensembl 74_37 -1 known frame_shift_del c.2706 p.Q904fs 0.995 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 178 0 0 267 44 14.1479 COG8 0 genome.wustl.edu 37 16 69364973 69364974 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 69364973 69364974 - T INS COG8 ENST00000306875 human ensembl 74_37 -1 known frame_shift_ins c.1608_1607 p.Y537fs 1.000:1.000 pirsf_COG8_Metazoal_Plant pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant - no_errors COG8 HGNC ENSG00000213380 32 0 0 27 7 20.5882 AP1G1 0 genome.wustl.edu 37 16 71803440 71803440 + Splice_Site DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 71803440 71803440 A - DEL AP1G1 ENST00000423132 human ensembl 74_37 -1 known splice_site_del c.643-1 e6-1 0.996 - - - no_errors AP1G1 HGNC ENSG00000166747 16 0 0 31 12 27.907 ZFHX3 0 genome.wustl.edu 37 16 72991757 72991758 + Frame_Shift_Ins INS - - CC TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 72991757 72991758 - CC INS ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_ins c.2288_2287 p.E763fs 1.000:1.000 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 82 0 0 81 12 12.9032 ZC3H18 0 genome.wustl.edu 37 16 88691140 88691141 + Frame_Shift_Ins INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 16 88691140 88691141 - C INS ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_ins c.2029_2030 p.R680fs 0.978:0.568 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 43 0 0 54 5 8.47458 SLC47A1 0 genome.wustl.edu 37 17 19458975 19458976 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 19458975 19458976 - A INS SLC47A1 ENST00000395585 human ensembl 74_37 +1 known frame_shift_ins c.711_712 p.L239fs 0.434:0.456 tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 153 0 0 167 33 16.5 ALDH3A1 0 genome.wustl.edu 37 17 19641649 19641649 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 19641649 19641649 G - DEL ALDH3A1 ENST00000225740 human ensembl 74_37 -1 known frame_shift_del c.1334 p.P445fs 0.889 superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 156 0 0 141 37 20.7865 MNT 0 genome.wustl.edu 37 17 2298413 2298413 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 2298413 2298413 G - DEL MNT ENST00000174618 human ensembl 74_37 -1 known frame_shift_del c.409 p.L137fs 0.005 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MNT HGNC ENSG00000070444 8 0 0 6 3 33.3333 PAFAH1B1 0 genome.wustl.edu 37 17 2579802 2579802 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 2579802 2579802 A - DEL PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known frame_shift_del c.904 p.S304fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 131 0 0 127 32 20.1258 KSR1 0 genome.wustl.edu 37 17 25910015 25910016 + Frame_Shift_Ins INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 25910015 25910016 - C INS KSR1 ENST00000319524 human ensembl 74_37 +1 known frame_shift_ins c.864_865 p.P291fs 0.261:0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 17 0 0 21 3 12.5 KIAA0100 0 genome.wustl.edu 37 17 26961600 26961600 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 26961600 26961600 G - DEL KIAA0100 ENST00000528896 human ensembl 74_37 -1 known frame_shift_del c.3005 p.P1002fs 0.547 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 197 0 0 171 59 25.6522 NSRP1 0 genome.wustl.edu 37 17 28505167 28505167 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 28505167 28505167 A - DEL NSRP1 ENST00000247026 human ensembl 74_37 +1 known frame_shift_del c.250 p.K86fs 1.000 pfam_DUF2040 pfam_DUF2040 - no_errors NSRP1 HGNC ENSG00000126653 101 0 0 126 34 21.25 ENSG00000266535 0 genome.wustl.edu 37 17 31439098 31439101 + RNA DEL AGAG AGAG - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AGAG AGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 31439098 31439101 AGAG - DEL ENSG00000266535 ENST00000584688 human ensembl 74_37 +1 known rna NULL NULL 0.563:0.970:0.975:0.999 - - - no_errors RP11-40A13.1 Clone_based_vega_gene ENSG00000266535 24 0 0 31 7 18.4211 RARA 0 genome.wustl.edu 37 17 38487554 38487554 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 38487554 38487554 C - DEL RARA ENST00000254066 human ensembl 74_37 +1 known frame_shift_del c.84 p.P30fs 1.000 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_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARA HGNC ENSG00000131759 94 0 0 104 15 12.605 TOP2A 0 genome.wustl.edu 37 17 38548531 38548531 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 38548531 38548531 T - DEL TOP2A ENST00000423485 human ensembl 74_37 -1 known frame_shift_del c.4027 p.T1343fs 0.000 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 TOP2A HGNC ENSG00000131747 22 0 0 23 6 20.6897 HAP1 0 genome.wustl.edu 37 17 39888591 39888592 + Frame_Shift_Del DEL CT CT - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 39888591 39888592 CT - DEL HAP1 ENST00000310778 human ensembl 74_37 -1 known frame_shift_del c.605_604 p.R202fs 1.000:0.998 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 121 0 0 103 12 10.4348 AOC3 0 genome.wustl.edu 37 17 41004674 41004674 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 41004674 41004674 C - DEL AOC3 ENST00000308423 human ensembl 74_37 +1 known frame_shift_del c.1314 p.L440fs 0.019 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 132 0 0 121 32 20.915 C17orf104 0 genome.wustl.edu 37 17 42745017 42745017 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 42745017 42745017 A - DEL C17orf104 ENST00000409122 human ensembl 74_37 +1 known frame_shift_del c.1738 p.I582fs 1.000 NULL NULL - no_errors C17orf104 HGNC ENSG00000180336 23 0 0 29 11 27.5 ADAM11 0 genome.wustl.edu 37 17 42837126 42837126 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 42837126 42837126 G - DEL ADAM11 ENST00000200557 human ensembl 74_37 +1 known frame_shift_del c.98 p.G35fs 0.983 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,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM11 HGNC ENSG00000073670 157 0 0 125 25 16.6667 ITGB3 0 genome.wustl.edu 37 17 45369918 45369918 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 45369918 45369918 G - DEL ITGB3 ENST00000559488 human ensembl 74_37 +1 known frame_shift_del c.1674 p.E560fs 0.997 pirsf_Integrin_bsu,pfam_EGF_extracell 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,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 187 0 0 191 35 15.4867 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 101 0 0 124 12 8.82353 NLRP1 0 genome.wustl.edu 37 17 5462052 5462052 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 5462052 5462052 T - DEL NLRP1 ENST00000572272 human ensembl 74_37 -1 known frame_shift_del c.1964 p.K655fs 0.000 NULL 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 194 0 0 211 38 15.261 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 204 1 0.487805 244 74 23.2704 RPS6KB1 0 genome.wustl.edu 37 17 57970683 57970683 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 57970683 57970683 G - DEL RPS6KB1 ENST00000225577 human ensembl 74_37 +1 known frame_shift_del c.138 p.G48fs 1.000 pirsf_Ribosomal_S6_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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,pfscan_Prot_kinase_dom - no_errors RPS6KB1 HGNC ENSG00000108443 14 0 0 13 2 13.3333 GAA 0 genome.wustl.edu 37 17 78090814 78090814 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 78090814 78090814 G - DEL GAA ENST00000302262 human ensembl 74_37 +1 known frame_shift_del c.2237 p.E748fs 1.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 116 0 0 126 20 13.6986 RCVRN 0 genome.wustl.edu 37 17 9801335 9801336 + RNA INS - - TG TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 17 9801335 9801336 - TG INS RCVRN ENST00000570909 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors RCVRN HGNC ENSG00000109047 130 0 0 114 29 20.2797 ANKRD20A5P 0 genome.wustl.edu 37 18 14225639 14225639 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 14225639 14225639 A - DEL ANKRD20A5P ENST00000577614 human ensembl 74_37 +1 known rna NULL NULL 0.184 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 25 0 0 33 27 45 TRAPPC8 0 genome.wustl.edu 37 18 29453418 29453418 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 29453418 29453418 A - DEL TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known frame_shift_del c.2037 p.F679fs 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 51 0 0 44 9 16.9811 ENSG00000252258 0 genome.wustl.edu 37 18 3025533 3025533 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 3025533 3025533 A - DEL ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 25 0 0 42 6 12.5 ELP2 0 genome.wustl.edu 37 18 33736541 33736541 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 33736541 33736541 T - DEL ELP2 ENST00000358232 human ensembl 74_37 +1 known frame_shift_del c.1388 p.S465fs 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 100 0 0 181 35 16.2037 FHOD3 0 genome.wustl.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 34205516 34205516 C - DEL FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_del c.1000 p.S336fs 0.999 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 78 0 0 95 17 15.1786 DYM 0 genome.wustl.edu 37 18 46860144 46860146 + In_Frame_Del DEL CTT CTT - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 46860144 46860146 CTT - DEL DYM ENST00000269445 human ensembl 74_37 -1 known in_frame_del c.574_572 p.E191in_frame_del 0.998:0.955:1.000 pfam_Dymeclin pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC ENSG00000141627 119 0 0 114 34 22.973 MBD1 0 genome.wustl.edu 37 18 47803053 47803053 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 47803053 47803053 T - DEL MBD1 ENST00000424334 human ensembl 74_37 -1 known frame_shift_del c.532 p.T178fs 0.994 NULL pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 97 0 0 64 27 29.6703 RPL6P27 0 genome.wustl.edu 37 18 6462616 6462617 + RNA INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 6462616 6462617 - T INS RPL6P27 ENST00000583065 human ensembl 74_37 -1 known rna NULL NULL 1.000:0.984 - - - no_errors RPL6P27 HGNC ENSG00000235552 51 0 0 87 7 7.44681 RTTN 0 genome.wustl.edu 37 18 67863751 67863751 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 67863751 67863751 A - DEL RTTN ENST00000255674 human ensembl 74_37 -1 known frame_shift_del c.827 p.F276fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 85 0 0 76 19 20 SOCS6 0 genome.wustl.edu 37 18 67992095 67992096 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 67992095 67992096 - A INS SOCS6 ENST00000397942 human ensembl 74_37 +1 known frame_shift_ins c.191_192 p.N66fs 0.998:0.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 136 0 0 123 36 22.6415 ZNF516 0 genome.wustl.edu 37 18 74091541 74091541 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 74091541 74091541 C - DEL ZNF516 ENST00000443185 human ensembl 74_37 -1 known frame_shift_del c.2529 p.M844fs 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 207 0 0 222 30 11.9048 PPP4R1 0 genome.wustl.edu 37 18 9593862 9593864 + In_Frame_Del DEL CCA CCA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 18 9593862 9593864 CCA - DEL PPP4R1 ENST00000400556 human ensembl 74_37 -1 known in_frame_del c.199_197 p.V66in_frame_del 1.000:1.000:1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 50 0 0 79 13 14.1304 ICAM4 0 genome.wustl.edu 37 19 10397719 10397719 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 10397719 10397719 T - DEL ICAM4 ENST00000340992 human ensembl 74_37 +1 known frame_shift_del c.31 p.L13fs 0.004 NULL pfam_ICAM_N - no_errors ICAM4 HGNC ENSG00000105371 19 0 0 21 6 22.2222 DNM2 0 genome.wustl.edu 37 19 10870400 10870401 + RNA INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 10870400 10870401 - C INS DNM2 ENST00000588976 human ensembl 74_37 +1 known rna NULL NULL 0.061:0.028 - - - no_errors DNM2 HGNC ENSG00000079805 296 0 0 268 117 30.3896 LPPR2 0 genome.wustl.edu 37 19 11470601 11470601 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 11470601 11470601 C - DEL LPPR2 ENST00000591608 human ensembl 74_37 +1 known frame_shift_del c.285 p.P97fs 0.998 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 DKFZP761J1410 Uniprot_gn ENSG00000105520 49 0 0 46 9 16.3636 ELAVL3 0 genome.wustl.edu 37 19 11577605 11577605 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 26 0 0 40 8 16.6667 ZNF44 0 genome.wustl.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 182 0 0 153 91 37.2951 OR7C2 0 genome.wustl.edu 37 19 15052604 15052604 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 15052604 15052604 T - DEL OR7C2 ENST00000248072 human ensembl 74_37 +1 known frame_shift_del c.304 p.F104fs 0.012 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 OR7C2 HGNC ENSG00000127529 74 0 0 86 23 21.1009 CHERP 0 genome.wustl.edu 37 19 16641463 16641463 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 16641463 16641463 T - DEL CHERP ENST00000546361 human ensembl 74_37 -1 known frame_shift_del c.809 p.N270fs 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS 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 246 0 0 285 16 5.31561 MYO9B 0 genome.wustl.edu 37 19 17322569 17322569 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 17322569 17322569 G - DEL MYO9B ENST00000594824 human ensembl 74_37 +1 known frame_shift_del c.6044 p.A2017fs 0.998 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 57 0 0 72 24 25 ZNF93 0 genome.wustl.edu 37 19 20044270 20044270 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 20044270 20044270 A - DEL ZNF93 ENST00000343769 human ensembl 74_37 +1 known frame_shift_del c.506 p.K171fs 0.897 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 ZNF93 HGNC ENSG00000184635 57 0 0 45 28 38.3562 C19orf12 0 genome.wustl.edu 37 19 30193800 30193800 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 30193800 30193800 G - DEL C19orf12 ENST00000392278 human ensembl 74_37 -1 known frame_shift_del c.278 p.P93fs 0.800 NULL NULL - no_errors C19orf12 HGNC ENSG00000131943 162 0 0 179 17 8.67347 KMT2B 0 genome.wustl.edu 37 19 36210893 36210893 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 36210893 36210893 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.644 p.R217fs 0.995 pirsf_MeTrfase_trithorax 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_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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 36 0 0 35 4 10.2564 KMT2B 0 genome.wustl.edu 37 19 36211899 36211899 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 36211899 36211899 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.1650 p.K553fs 0.252 pirsf_MeTrfase_trithorax 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_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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 20 0 0 19 7 26.9231 TYROBP 0 genome.wustl.edu 37 19 36399123 36399123 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 36399123 36399123 C - DEL TYROBP ENST00000262629 human ensembl 74_37 -1 known frame_shift_del c.8 p.G3fs 0.006 NULL NULL - no_errors TYROBP HGNC ENSG00000011600 50 0 0 76 11 12.6437 SAMD4B 0 genome.wustl.edu 37 19 39860622 39860622 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 39860622 39860622 G - DEL SAMD4B ENST00000314471 human ensembl 74_37 +1 known frame_shift_del c.524 p.G177fs 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 36 0 0 26 5 16.129 PLEKHG2 0 genome.wustl.edu 37 19 39905656 39905656 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 39905656 39905656 C - DEL PLEKHG2 ENST00000409794 human ensembl 74_37 +1 known frame_shift_del c.134 p.R47fs 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 26 0 0 21 5 19.2308 CD79A 0 genome.wustl.edu 37 19 42383610 42383610 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 42383610 42383610 C - DEL CD79A ENST00000221972 human ensembl 74_37 +1 known frame_shift_del c.385 p.R131fs 0.007 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom - no_errors CD79A HGNC ENSG00000105369 16 0 0 26 5 16.129 DEDD2 0 genome.wustl.edu 37 19 42713983 42713983 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 42713983 42713983 G - DEL DEDD2 ENST00000595337 human ensembl 74_37 -1 known frame_shift_del c.458 p.P153fs 0.853 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD2 HGNC ENSG00000160570 58 0 0 87 8 8.42105 ERF 0 genome.wustl.edu 37 19 42753368 42753368 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 42753368 42753368 C - DEL ERF ENST00000222329 human ensembl 74_37 -1 known frame_shift_del c.896 p.G299fs 0.941 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 27 0 0 36 4 10 ZNF283 0 genome.wustl.edu 37 19 44351117 44351117 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 44351117 44351117 A - DEL ZNF283 ENST00000324461 human ensembl 74_37 +1 known frame_shift_del c.364 p.I124fs 0.039 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 ZNF283 HGNC ENSG00000167637 9 0 0 16 2 11.1111 ZNF233 0 genome.wustl.edu 37 19 44777229 44777229 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 44777229 44777229 C - DEL ZNF233 ENST00000391958 human ensembl 74_37 +1 known frame_shift_del c.416 p.C141fs 0.150 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 ZNF233 HGNC ENSG00000159915 131 0 0 153 37 19.4737 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 49850473 49850473 G - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883 p.H295fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 409 3 0.728155 383 70 15.4525 SHANK1 0 genome.wustl.edu 37 19 51220109 51220109 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 51220109 51220109 C - DEL SHANK1 ENST00000391814 human ensembl 74_37 -1 known frame_shift_del c.68 p.G23fs 0.997 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,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 SHANK1 HGNC ENSG00000161681 18 0 0 18 6 25 KIR2DL4 0 genome.wustl.edu 37 19 55324675 55324675 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 25 0 0 23 22 48.8889 ZNF580 0 genome.wustl.edu 37 19 56153990 56153992 + In_Frame_Del DEL CTT CTT - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 56153990 56153992 CTT - DEL ZNF580 ENST00000325333 human ensembl 74_37 +1 known in_frame_del c.116_118 p.S41in_frame_del 0.001:0.000:0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF580 HGNC ENSG00000213015 10 0 0 9 4 30.7692 FGF22 0 genome.wustl.edu 37 19 643528 643528 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 643528 643528 G - DEL FGF22 ENST00000215530 human ensembl 74_37 +1 known frame_shift_del c.437 p.150fs 0.001 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF22 HGNC ENSG00000070388 18 0 0 32 5 13.5135 CAMSAP3 0 genome.wustl.edu 37 19 7676026 7676026 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 19 7676026 7676026 C - DEL CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known frame_shift_del c.1176 p.Q394fs 0.714 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 163 0 0 154 15 8.87574 SEPT10 0 genome.wustl.edu 37 2 110301828 110301828 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 110301828 110301828 T - DEL SEPT10 ENST00000356688 human ensembl 74_37 -1 putative frame_shift_del c.1506 p.K502fs 0.004 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT10 HGNC ENSG00000186522 45 0 0 74 15 16.8539 NPHP1 0 genome.wustl.edu 37 2 110926098 110926098 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 110926098 110926098 T - DEL NPHP1 ENST00000316534 human ensembl 74_37 -1 known frame_shift_del c.555 p.K185fs 0.398 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 112 0 0 215 23 9.66387 SLC35F5 0 genome.wustl.edu 37 2 114500277 114500278 + Frame_Shift_Del DEL AA AA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 114500277 114500278 AA - DEL SLC35F5 ENST00000245680 human ensembl 74_37 -1 known frame_shift_del c.742_741 p.F247fs 1.000:1.000 pfam_DMT pfam_DMT - no_errors SLC35F5 HGNC ENSG00000115084 138 0 0 155 32 17.1123 R3HDM1 0 genome.wustl.edu 37 2 136409442 136409442 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 136409442 136409442 C - DEL R3HDM1 ENST00000264160 human ensembl 74_37 +1 known frame_shift_del c.1763 p.P589fs 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 121 0 0 138 22 13.75 CXCR4 0 genome.wustl.edu 37 2 136872414 136872415 + RNA INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 136872414 136872415 - A INS CXCR4 ENST00000466288 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CXCR4 HGNC ENSG00000121966 140 1 0.70922 132 47 26.257 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 53 0 0 167 100 37.4532 BAZ2B 0 genome.wustl.edu 37 2 160295136 160295137 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 160295136 160295137 - T INS BAZ2B ENST00000392783 human ensembl 74_37 -1 known frame_shift_ins c.971_970 p.R324fs 1.000:1.000 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 178 0 0 234 36 13.3333 PXDN 0 genome.wustl.edu 37 2 1652984 1652984 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 1652984 1652984 G - DEL PXDN ENST00000252804 human ensembl 74_37 -1 known frame_shift_del c.2568 p.C857fs 0.996 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 19 0 0 35 5 12.5 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 23 0 0 77 21 21.4286 SCN1A 0 genome.wustl.edu 37 2 166852549 166852550 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 166852549 166852550 - T INS SCN1A ENST00000303395 human ensembl 74_37 -1 known frame_shift_ins c.4555_4554 p.P1518fs 1.000:1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 39 0 0 110 26 19.1176 HOXD12 0 genome.wustl.edu 37 2 176965259 176965259 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 176965259 176965259 G - DEL HOXD12 ENST00000406506 human ensembl 74_37 +1 known frame_shift_del c.584 p.A197fs 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD12 HGNC ENSG00000170178 22 0 0 15 5 25 RAD51AP2 0 genome.wustl.edu 37 2 17698737 17698737 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 17698737 17698737 T - DEL RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known frame_shift_del c.946 p.T316fs 0.003 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 76 0 0 81 31 27.6786 HOXD8 0 genome.wustl.edu 37 2 176995416 176995417 + Frame_Shift_Ins INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 176995416 176995417 - C INS HOXD8 ENST00000313173 human ensembl 74_37 +1 known frame_shift_ins c.322_323 p.P111fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 82 0 0 101 25 19.8413 TTN-AS1 0 genome.wustl.edu 37 2 179392052 179392052 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 179392052 179392052 A - DEL TTN-AS1 ENST00000587576 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors TTN-AS1 HGNC ENSG00000237298 26 0 0 44 15 25.4237 TTN 0 genome.wustl.edu 37 2 179597826 179597826 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 179597826 179597826 A - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.12345 p.F4115fs 0.984 pfam_Ig_I-set,superfamily_RNaseH-like_dom,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 17 0 0 71 8 10.1266 DNAH7 0 genome.wustl.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 196788374 196788374 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.3770 p.N1257fs 0.000 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 52 0 0 118 7 5.6 GTF3C3 0 genome.wustl.edu 37 2 197649614 197649614 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 19 0 0 59 7 10.6061 INO80D 0 genome.wustl.edu 37 2 206882406 206882406 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 206882406 206882406 T - DEL INO80D ENST00000403263 human ensembl 74_37 -1 known frame_shift_del c.1540 p.M514fs 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 11 0 0 26 6 18.75 ERBB4 0 genome.wustl.edu 37 2 212248737 212248737 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 212248737 212248737 T - DEL ERBB4 ENST00000342788 human ensembl 74_37 -1 known frame_shift_del c.3530 p.N1177fs 1.000 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 ERBB4 HGNC ENSG00000178568 79 0 0 208 46 18.1102 BARD1 0 genome.wustl.edu 37 2 215645974 215645975 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 215645974 215645975 - T INS BARD1 ENST00000260947 human ensembl 74_37 -1 known frame_shift_ins c.624_623 p.K209fs 0.996:0.996 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 44 0 0 123 22 15.1724 TNS1 0 genome.wustl.edu 37 2 218683469 218683470 + Frame_Shift_Ins INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 218683469 218683470 - C INS TNS1 ENST00000171887 human ensembl 74_37 -1 known frame_shift_ins c.3274_3273 p.S1091fs 1.000:1.000 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 77 0 0 88 7 7.36842 CXCR2P1 0 genome.wustl.edu 37 2 218925366 218925366 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 218925366 218925366 A - DEL CXCR2P1 ENST00000439871 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CXCR2P1 HGNC ENSG00000229754 76 0 0 98 27 21.6 ZNF142 0 genome.wustl.edu 37 2 219508052 219508052 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 219508052 219508052 G - DEL ZNF142 ENST00000411696 human ensembl 74_37 -1 known frame_shift_del c.3187 p.Q1063fs 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 71 0 0 67 12 15.1899 ABCB6 0 genome.wustl.edu 37 2 220081103 220081103 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 220081103 220081103 C - DEL ABCB6 ENST00000265316 human ensembl 74_37 -1 known frame_shift_del c.953 p.G318fs 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_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 90 0 0 70 11 13.5802 DOCK10 0 genome.wustl.edu 37 2 225729690 225729690 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 225729690 225729690 C - DEL DOCK10 ENST00000258390 human ensembl 74_37 -1 known frame_shift_del c.1372 p.A458fs 0.061 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 230 0 0 265 63 19.2073 NYAP2 0 genome.wustl.edu 37 2 226447379 226447379 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 226447379 226447379 C - DEL NYAP2 ENST00000272907 human ensembl 74_37 +1 known frame_shift_del c.1246 p.P417fs 0.997 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 16 0 0 10 6 37.5 IRS1 0 genome.wustl.edu 37 2 227661664 227661664 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 60 0 0 58 12 17.1429 TRIP12 0 genome.wustl.edu 37 2 230652221 230652221 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 230652221 230652221 T - DEL TRIP12 ENST00000283943 human ensembl 74_37 -1 known frame_shift_del c.4770 p.K1590fs 1.000 superfamily_HECT pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 130 0 0 198 22 10 COL6A3 0 genome.wustl.edu 37 2 238242176 238242176 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 238242176 238242176 G - DEL COL6A3 ENST00000295550 human ensembl 74_37 -1 known frame_shift_del c.9245 p.P3082fs 0.129 superfamily_Fibronectin_type3 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 91 0 0 78 26 25 ENSG00000268412 0 genome.wustl.edu 37 2 26251337 26251337 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 26251337 26251337 C - DEL ENSG00000268412 ENST00000599234 human ensembl 74_37 -1 novel frame_shift_del c.145 p.V49fs 0.124 pfam_UPF0434/Trm112 pfam_UPF0434/Trm112 - no_errors AC013449.1 Clone_based_ensembl_gene ENSG00000268412 36 0 0 36 6 14.2857 XDH 0 genome.wustl.edu 37 2 31572970 31572970 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 31572970 31572970 C - DEL XDH ENST00000379416 human ensembl 74_37 -1 known frame_shift_del c.2751 p.Q919fs 0.004 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH 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_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 250 0 0 313 55 14.9457 RMDN2 0 genome.wustl.edu 37 2 38224583 38224584 + Frame_Shift_Del DEL AA AA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 38224583 38224584 AA - DEL RMDN2 ENST00000234195 human ensembl 74_37 +1 known frame_shift_del c.1504_1505 p.K503fs 1.000:0.998 NULL NULL - no_errors RMDN2 HGNC ENSG00000115841 112 0 0 113 22 16.2963 RHOQ 0 genome.wustl.edu 37 2 46808174 46808174 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 46808174 46808174 A - DEL RHOQ ENST00000238738 human ensembl 74_37 +1 known frame_shift_del c.570 p.R193fs 1.000 NULL 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 RHOQ HGNC ENSG00000119729 106 0 0 142 26 15.4762 MSH2 0 genome.wustl.edu 37 2 47639588 47639588 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 47639588 47639588 A - DEL MSH2 ENST00000233146 human ensembl 74_37 +1 known frame_shift_del c.681 p.A230fs 0.994 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom,pirsf_DNA_mismatch_repair_MSH2 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_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 60 0 0 73 15 17.0455 MTIF2 0 genome.wustl.edu 37 2 55489517 55489517 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 55489517 55489517 T - DEL MTIF2 ENST00000263629 human ensembl 74_37 -1 known frame_shift_del c.266 p.K89fs 0.992 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 371 0 0 396 71 15.2034 CCDC88A 0 genome.wustl.edu 37 2 55561924 55561925 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 55561924 55561925 - T INS CCDC88A ENST00000436346 human ensembl 74_37 -1 known frame_shift_ins c.2033_2032 p.T678fs 0.998:1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 33 0 0 53 16 23.1884 CCDC85A 0 genome.wustl.edu 37 2 56420368 56420368 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 56420368 56420368 G - DEL CCDC85A ENST00000407595 human ensembl 74_37 +1 known frame_shift_del c.1033 p.S347fs 0.444 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 83 0 0 83 17 17 UGP2 0 genome.wustl.edu 37 2 64069278 64069279 + RNA DEL AA AA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 64069278 64069279 AA - DEL UGP2 ENST00000484056 human ensembl 74_37 +1 known rna NULL NULL 0.271:0.359 - - - no_errors UGP2 HGNC ENSG00000169764 133 0 0 118 59 33.3333 ATP6V1B1 0 genome.wustl.edu 37 2 71191573 71191573 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 71191573 71191573 C - DEL ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 0.999 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 135 0 0 120 34 22.0779 MCEE 0 genome.wustl.edu 37 2 71351664 71351665 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 2 71351664 71351665 - A INS MCEE ENST00000244217 human ensembl 74_37 -1 known frame_shift_ins c.50_49 p.S17fs 0.104:0.007 NULL pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase - no_errors MCEE HGNC ENSG00000124370 107 0 0 137 22 13.8365 DEFB118 0 genome.wustl.edu 37 20 29960672 29960672 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 29960672 29960672 A - DEL DEFB118 ENST00000253381 human ensembl 74_37 +1 known frame_shift_del c.71 p.K26fs 0.000 NULL NULL - no_errors DEFB118 HGNC ENSG00000131068 46 0 0 57 21 26.9231 TTI1 0 genome.wustl.edu 37 20 36627613 36627613 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 36627613 36627613 G - DEL TTI1 ENST00000373447 human ensembl 74_37 -1 known frame_shift_del c.2770 p.L924fs 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 98 0 0 133 19 12.5 TP53RK 0 genome.wustl.edu 37 20 45315634 45315634 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 45315634 45315634 G - DEL TP53RK ENST00000372114 human ensembl 74_37 -1 known frame_shift_del c.520 p.L174fs 0.000 pfam_LipoPS_kinase,pfam_Prot_kinase_dom,pfam_RIO-like_kinase,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,tigrfam_Bud32 pfam_LipoPS_kinase,pfam_Prot_kinase_dom,pfam_RIO-like_kinase,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,tigrfam_Bud32 - no_errors TP53RK HGNC ENSG00000172315 169 0 0 172 49 22.1719 DDX27 0 genome.wustl.edu 37 20 47858504 47858505 + Frame_Shift_Del DEL AA AA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 47858504 47858505 AA - DEL DDX27 ENST00000371764 human ensembl 74_37 +1 known frame_shift_del c.2065_2066 p.K691fs 1.000:1.000 NULL 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 DDX27 HGNC ENSG00000124228 141 0 0 150 41 21.466 KCNB1 0 genome.wustl.edu 37 20 47989557 47989557 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 47989557 47989557 C - DEL KCNB1 ENST00000371741 human ensembl 74_37 -1 known frame_shift_del c.2540 p.G847fs 1.000 NULL 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_Kv2.1,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 KCNB1 HGNC ENSG00000158445 54 0 0 67 13 16.25 KCNB1 0 genome.wustl.edu 37 20 47989891 47989891 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 47989891 47989891 G - DEL KCNB1 ENST00000371741 human ensembl 74_37 -1 known frame_shift_del c.2206 p.R736fs 1.000 prints_K_chnl_volt-dep_Kv2.1 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_Kv2.1,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 KCNB1 HGNC ENSG00000158445 177 0 0 267 35 11.5894 ZNF831 0 genome.wustl.edu 37 20 57766220 57766220 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 57766220 57766220 C - DEL ZNF831 ENST00000371030 human ensembl 74_37 +1 novel frame_shift_del c.146 p.T52fs 0.643 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 69 0 0 74 11 12.9412 SYCP2 0 genome.wustl.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 58467047 58467047 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.2362 p.M788fs 0.029 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 31 0 0 65 20 23.5294 SYCP2 0 genome.wustl.edu 37 20 58490593 58490593 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 58490593 58490593 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.526 p.M176fs 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 62 0 0 107 22 17.0543 CHGB 0 genome.wustl.edu 37 20 5904506 5904507 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 5904506 5904507 - A INS CHGB ENST00000378961 human ensembl 74_37 +1 known frame_shift_ins c.1716_1717 p.P574fs 1.000:1.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 131 0 0 109 34 23.7762 TRMT6 0 genome.wustl.edu 37 20 5924808 5924808 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 5924808 5924808 T - DEL TRMT6 ENST00000203001 human ensembl 74_37 -1 known frame_shift_del c.458 p.K153fs 1.000 pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase - no_errors TRMT6 HGNC ENSG00000089195 18 0 0 20 6 23.0769 TAF4 0 genome.wustl.edu 37 20 60575303 60575303 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 20 60575303 60575303 T - DEL TAF4 ENST00000252996 human ensembl 74_37 -1 known frame_shift_del c.2664 p.K888fs 1.000 pfam_TAF4,superfamily_Histone-fold pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 188 0 0 165 44 21.0526 TTC3 0 genome.wustl.edu 37 21 38524243 38524243 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 21 38524243 38524243 A - DEL TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_del c.2327 p.E779fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 74 0 0 94 23 19.6581 PDE9A 0 genome.wustl.edu 37 21 44195538 44195540 + RNA DEL AAA AAA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 21 44195538 44195540 AAA - DEL PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors PDE9A HGNC ENSG00000160191 23 0 0 36 5 12.1951 LSS 0 genome.wustl.edu 37 21 47614502 47614502 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 21 47614502 47614502 C - DEL LSS ENST00000356396 human ensembl 74_37 -1 known frame_shift_del c.1891 p.E631fs 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 72 0 0 59 5 7.8125 MCM3AP 0 genome.wustl.edu 37 21 47663397 47663397 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 21 47663397 47663397 G - DEL MCM3AP ENST00000291688 human ensembl 74_37 -1 known frame_shift_del c.5278 p.R1760fs 0.019 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 223 0 0 226 34 13.0769 TXNRD2 0 genome.wustl.edu 37 22 19882970 19882971 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 19882970 19882971 - T INS TXNRD2 ENST00000535882 human ensembl 74_37 -1 known frame_shift_ins c.906_905 p.E303fs 0.286:0.249 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD2 HGNC ENSG00000184470 326 0 0 327 58 15.0649 OSBP2 0 genome.wustl.edu 37 22 31289751 31289752 + RNA INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 31289751 31289752 - A INS OSBP2 ENST00000496575 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors OSBP2 HGNC ENSG00000184792 27 0 0 30 2 6.25 TNRC6B 0 genome.wustl.edu 37 22 40676019 40676019 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 40676019 40676019 T - DEL TNRC6B ENST00000454349 human ensembl 74_37 +1 known frame_shift_del c.3283 p.F1095fs 1.000 superfamily_UBA-like pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 356 0 0 422 86 16.9291 SLC25A17 0 genome.wustl.edu 37 22 41195058 41195058 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 22 41195058 41195058 A - DEL SLC25A17 ENST00000435456 human ensembl 74_37 -1 known frame_shift_del c.84 p.L30fs 0.972 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A17 HGNC ENSG00000100372 57 0 0 58 19 24.6753 PVRL3 0 genome.wustl.edu 37 3 110830859 110830860 + RNA INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 110830859 110830860 - T INS PVRL3 ENST00000478327 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors PVRL3 HGNC ENSG00000177707 20 0 0 57 14 19.7183 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 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 ZBTB20 HGNC ENSG00000181722 73 0 0 115 34 22.8188 MAATS1 0 genome.wustl.edu 37 3 119451295 119451295 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 119451295 119451295 A - DEL MAATS1 ENST00000273390 human ensembl 74_37 +1 known frame_shift_del c.1173 p.N393fs 0.516 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 13 0 0 41 11 21.1538 SLC12A8 0 genome.wustl.edu 37 3 124810944 124810944 + Splice_Site DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 124810944 124810944 C - DEL SLC12A8 ENST00000423114 human ensembl 74_37 -1 known splice_site_del c.1890+1 e11+1 1.000 - - - no_errors SLC12A8 HGNC ENSG00000221955 53 0 0 50 20 28.5714 ALDH1L1 0 genome.wustl.edu 37 3 125877315 125877315 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 125877315 125877315 G - DEL ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known frame_shift_del c.295 p.R99fs 0.088 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 52 0 0 38 14 26.9231 ENSG00000273455 0 genome.wustl.edu 37 3 135806703 135806703 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 135806703 135806703 T - DEL ENSG00000273455 ENST00000608883 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-305O4.3 Clone_based_vega_gene ENSG00000273455 56 0 0 59 22 27.1605 ATR 0 genome.wustl.edu 37 3 142274740 142274740 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 142274740 142274740 T - DEL ATR ENST00000350721 human ensembl 74_37 -1 known frame_shift_del c.2320 p.I774fs 0.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 128 1 0.775194 183 45 19.7368 PLSCR1 0 genome.wustl.edu 37 3 146234963 146234963 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 146234963 146234963 A - DEL PLSCR1 ENST00000484560 human ensembl 74_37 -1 putative rna NULL NULL 0.163 - - - no_errors PLSCR1 HGNC ENSG00000188313 29 0 0 53 12 18.4615 DHX36 0 genome.wustl.edu 37 3 154032860 154032860 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 51 0 0 72 14 16.2791 METTL6 0 genome.wustl.edu 37 3 15455535 15455535 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 15455535 15455535 A - DEL METTL6 ENST00000383790 human ensembl 74_37 -1 known frame_shift_del c.666 p.F222fs 0.912 pirsf_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_MeTrfase - no_errors METTL6 HGNC ENSG00000206562 54 0 0 76 12 13.6364 VEPH1 0 genome.wustl.edu 37 3 157081226 157081227 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 157081226 157081227 - T INS VEPH1 ENST00000362010 human ensembl 74_37 -1 known frame_shift_ins c.1662_1661 p.N554fs 1.000:1.000 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 247 0 0 381 83 17.8879 GALNT15 0 genome.wustl.edu 37 3 16252680 16252681 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 16252680 16252681 - A INS GALNT15 ENST00000339732 human ensembl 74_37 +1 known frame_shift_ins c.1129_1130 p.N378fs 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 GALNT15 HGNC ENSG00000131386 82 0 0 91 16 14.9533 SI 0 genome.wustl.edu 37 3 164781250 164781250 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 164781250 164781250 A - DEL SI ENST00000264382 human ensembl 74_37 -1 known frame_shift_del c.887 p.L296fs 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 46 0 0 92 15 14.0187 SERPINI1 0 genome.wustl.edu 37 3 167507159 167507159 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 167507159 167507159 A - DEL SERPINI1 ENST00000295777 human ensembl 74_37 +1 known frame_shift_del c.243 p.N83fs 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC ENSG00000163536 64 0 0 164 22 11.828 SEC62 0 genome.wustl.edu 37 3 169700663 169700664 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 169700663 169700664 - A INS SEC62 ENST00000337002 human ensembl 74_37 +1 known frame_shift_ins c.420_421 p.D143fs 0.978:1.000 pfam_Sec62,superfamily_ABC1_TM_dom pfam_Sec62,superfamily_ABC1_TM_dom - no_errors SEC62 HGNC ENSG00000008952 23 0 0 47 8 14.5455 UTS2B 0 genome.wustl.edu 37 3 190999910 190999911 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 190999910 190999911 - A INS UTS2B ENST00000446788 human ensembl 74_37 -1 known frame_shift_ins c.69_68 p.L23fs 0.000:0.005 NULL NULL - no_errors UTS2B HGNC ENSG00000188958 59 0 0 72 17 19.1011 ATP13A5 0 genome.wustl.edu 37 3 192997234 192997235 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 192997234 192997235 - A INS ATP13A5 ENST00000342358 human ensembl 74_37 -1 known frame_shift_ins c.3236_3235 p.S1079fs 0.994:0.996 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,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 ATP13A5 HGNC ENSG00000187527 44 0 0 62 14 18.4211 ATP13A3 0 genome.wustl.edu 37 3 194180670 194180670 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 194180670 194180670 T - DEL ATP13A3 ENST00000256031 human ensembl 74_37 -1 known frame_shift_del c.256 p.I86fs 1.000 pfam_ATPase_P-typ_Cation_typ_V,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,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 ATP13A3 HGNC ENSG00000133657 108 0 0 147 35 19.2308 MUC4 0 genome.wustl.edu 37 3 195488395 195488396 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 195488395 195488396 - G INS MUC4 ENST00000463781 human ensembl 74_37 -1 known frame_shift_ins c.14574_14573 p.G4859fs 0.000:0.000 NULL 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 218 0 0 208 22 9.56522 ZDHHC19 0 genome.wustl.edu 37 3 195925221 195925221 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 195925221 195925221 G - DEL ZDHHC19 ENST00000296326 human ensembl 74_37 -1 known frame_shift_del c.875 p.P292fs 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC19 HGNC ENSG00000163958 99 0 0 97 23 19.1667 ENSG00000232783 0 genome.wustl.edu 37 3 197838274 197838276 + RNA DEL AAA AAA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 197838274 197838276 AAA - DEL ENSG00000232783 ENST00000411596 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001:0.001 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 21 0 0 36 2 5.26316 HMGB1P5 0 genome.wustl.edu 37 3 22423564 22423564 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 22423564 22423564 A - DEL HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 116 0 0 241 44 15.4386 CNTN4 0 genome.wustl.edu 37 3 3067806 3067806 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 3067806 3067806 C - DEL CNTN4 ENST00000397461 human ensembl 74_37 +1 known frame_shift_del c.1507 p.P504fs 0.643 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom 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 CNTN4 HGNC ENSG00000144619 25 0 0 82 20 19.6078 TRIM71 0 genome.wustl.edu 37 3 32932420 32932421 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 32932420 32932421 - A INS TRIM71 ENST00000383763 human ensembl 74_37 +1 known frame_shift_ins c.1724_1725 p.K577fs 1.000:1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like 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 90 0 0 88 24 21.4286 DCLK3 0 genome.wustl.edu 37 3 36779824 36779824 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 36779824 36779824 G - DEL DCLK3 ENST00000416516 human ensembl 74_37 -1 known frame_shift_del c.327 p.R110fs 0.053 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 DCLK3 HGNC ENSG00000163673 232 0 0 227 31 12.0155 NKTR 0 genome.wustl.edu 37 3 42679036 42679036 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 42679036 42679036 C - DEL NKTR ENST00000232978 human ensembl 74_37 +1 known frame_shift_del c.1840 p.P616fs 1.000 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 224 0 0 305 72 19.0981 DHX30 0 genome.wustl.edu 37 3 47859553 47859553 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 47859553 47859553 C - DEL DHX30 ENST00000445061 human ensembl 74_37 +1 known frame_shift_del c.70 p.R25fs 1.000 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 366 0 0 384 65 14.4766 COL7A1 0 genome.wustl.edu 37 3 48621801 48621801 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 48621801 48621801 G - DEL COL7A1 ENST00000328333 human ensembl 74_37 -1 known frame_shift_del c.4127 p.P1376fs 0.893 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 87 0 0 95 25 20.8333 AMT 0 genome.wustl.edu 37 3 49457336 49457336 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 49457336 49457336 A - DEL AMT ENST00000480957 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AMT HGNC ENSG00000145020 26 0 0 34 7 17.0732 DAG1 0 genome.wustl.edu 37 3 49547840 49547840 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 49547840 49547840 T - DEL DAG1 ENST00000479935 human ensembl 74_37 +1 known rna NULL NULL 0.793 - - - no_errors DAG1 HGNC ENSG00000173402 35 0 0 30 12 28.5714 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 95 0 0 80 23 22.3301 VPRBP 0 genome.wustl.edu 37 3 51457448 51457448 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 51457448 51457448 T - DEL VPRBP ENST00000335891 human ensembl 74_37 -1 known frame_shift_del c.1629 p.K543fs 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 461 0 0 413 83 16.7339 ITIH1 0 genome.wustl.edu 37 3 52825870 52825871 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 52825870 52825871 - G INS ITIH1 ENST00000273283 human ensembl 74_37 +1 known frame_shift_ins c.2679_2680 p.A894fs 0.999:1.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 64 0 0 58 9 13.4328 IL17RB 0 genome.wustl.edu 37 3 53889347 53889347 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 53889347 53889347 A - DEL IL17RB ENST00000288167 human ensembl 74_37 +1 known frame_shift_del c.508 p.K172fs 0.036 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 20 0 0 23 5 17.8571 EPHA6 0 genome.wustl.edu 37 3 97311563 97311563 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 97311563 97311563 C - DEL EPHA6 ENST00000389672 human ensembl 74_37 +1 known frame_shift_del c.2494 p.R834fs 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 34 0 0 52 11 17.4603 OR5K2 0 genome.wustl.edu 37 3 98217288 98217288 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 3 98217288 98217288 T - DEL OR5K2 ENST00000427338 human ensembl 74_37 +1 known frame_shift_del c.764 p.F257fs 0.026 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K2 HGNC ENSG00000231861 42 0 0 102 21 17.0732 TET2 0 genome.wustl.edu 37 4 106155661 106155661 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 106155661 106155661 A - DEL TET2 ENST00000380013 human ensembl 74_37 +1 known frame_shift_del c.562 p.S189fs 0.006 NULL NULL - no_errors TET2 HGNC ENSG00000168769 41 0 0 90 22 19.6429 ARSJ 0 genome.wustl.edu 37 4 114823494 114823494 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 114823494 114823494 T - DEL ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_del c.1736 p.K579fs 0.628 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 30 0 0 54 11 16.9231 SCLT1 0 genome.wustl.edu 37 4 129869674 129869675 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 129869674 129869675 - T INS SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_ins c.1270_1269 p.A423fs 1.000:1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 41 0 0 93 23 19.8276 FHDC1 0 genome.wustl.edu 37 4 153896924 153896924 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 153896924 153896924 C - DEL FHDC1 ENST00000260008 human ensembl 74_37 +1 known frame_shift_del c.2481 p.P829fs 0.617 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 199 0 0 210 55 20.7547 PLRG1 0 genome.wustl.edu 37 4 155470089 155470090 + Splice_Site INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 155470089 155470090 - A INS PLRG1 ENST00000393905 human ensembl 74_37 -1 known splice_site_ins c.10-3_10-2 e2-2 1.000:0.087 - - - no_errors PLRG1 HGNC ENSG00000171566 47 0 0 55 8 12.6984 RAPGEF2 0 genome.wustl.edu 37 4 160253755 160253755 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 160253755 160253755 A - DEL RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known frame_shift_del c.1558 p.S522fs 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,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 RAPGEF2 HGNC ENSG00000109756 78 0 0 77 29 27.3585 CLCN3 0 genome.wustl.edu 37 4 170613460 170613460 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 170613460 170613460 A - DEL CLCN3 ENST00000347613 human ensembl 74_37 +1 known frame_shift_del c.925 p.R311fs 1.000 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-3 - no_errors CLCN3 HGNC ENSG00000109572 170 0 0 186 41 18.0617 AGA 0 genome.wustl.edu 37 4 178352896 178352896 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 178352896 178352896 T - DEL AGA ENST00000264595 human ensembl 74_37 -1 known frame_shift_del c.1007 p.N336fs 0.008 NULL pfam_Peptidase_T2 - no_errors AGA HGNC ENSG00000038002 59 0 0 66 17 20.4819 FAM193A 0 genome.wustl.edu 37 4 2661593 2661593 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 2661593 2661593 C - DEL FAM193A ENST00000324666 human ensembl 74_37 +1 known frame_shift_del c.684 p.V231fs 0.995 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 213 0 0 263 23 8.04196 UGDH 0 genome.wustl.edu 37 4 39515753 39515753 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 39515753 39515753 A - DEL UGDH ENST00000316423 human ensembl 74_37 -1 known frame_shift_del c.214 p.S72fs 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 141 0 0 135 26 16.1491 ATP10D 0 genome.wustl.edu 37 4 47538491 47538491 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 47538491 47538491 T - DEL ATP10D ENST00000273859 human ensembl 74_37 +1 known frame_shift_del c.1053 p.F353fs 0.000 pfam_ATPase_P-typ_transduc_dom_A,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 ATP10D HGNC ENSG00000145246 168 0 0 365 87 19.2478 EPHA5 0 genome.wustl.edu 37 4 66467646 66467646 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 66467646 66467646 T - DEL EPHA5 ENST00000273854 human ensembl 74_37 -1 known frame_shift_del c.623 p.K208fs 1.000 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_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 78 0 0 100 26 20.6349 ABLIM2 0 genome.wustl.edu 37 4 8089996 8089996 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 8089996 8089996 G - DEL ABLIM2 ENST00000447017 human ensembl 74_37 -1 known frame_shift_del c.354 p.D120fs 0.001 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM 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 43 0 0 50 13 20.6349 SEC31A 0 genome.wustl.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 92 0 0 70 43 38.0531 TRMT44 0 genome.wustl.edu 37 4 8477713 8477715 + In_Frame_Del DEL GAA GAA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 8477713 8477715 GAA - DEL TRMT44 ENST00000389737 human ensembl 74_37 +1 known in_frame_del c.2259_2261 p.K755in_frame_del 0.788:0.740:0.578 NULL pfam_tRNA_uracil_MeTrfase - no_errors TRMT44 HGNC ENSG00000155275 161 0 0 195 27 12.1622 SPARCL1 0 genome.wustl.edu 37 4 88420707 88420707 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 88420707 88420707 A - DEL SPARCL1 ENST00000282470 human ensembl 74_37 -1 known frame_shift_del c.20 p.F7fs 0.627 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pirsf_SPARC-like_p1,pfscan_EF_hand_dom - no_errors SPARCL1 HGNC ENSG00000152583 149 0 0 156 34 17.8947 ABCG2 0 genome.wustl.edu 37 4 89028360 89028360 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 4 89028360 89028360 T - DEL ABCG2 ENST00000237612 human ensembl 74_37 -1 known frame_shift_del c.1253 p.N418fs 0.132 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 54 0 0 52 12 18.75 PCDHB10 0 genome.wustl.edu 37 5 140573738 140573738 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 140573738 140573738 C - DEL PCDHB10 ENST00000239446 human ensembl 74_37 +1 known frame_shift_del c.1613 p.A540fs 0.111 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 PCDHB10 HGNC ENSG00000120324 182 0 0 231 25 9.76562 ARAP3 0 genome.wustl.edu 37 5 141052704 141052705 + RNA DEL GA GA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 141052704 141052705 GA - DEL ARAP3 ENST00000524066 human ensembl 74_37 -1 putative rna NULL NULL 0.015:0.013 - - - no_errors ARAP3 HGNC ENSG00000120318 67 0 0 65 15 18.75 RBM27 0 genome.wustl.edu 37 5 145647320 145647321 + Frame_Shift_Del DEL AA AA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 145647320 145647321 AA - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2440_2441 p.K816fs 1.000:1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 106 0 0 89 33 27.0492 TCERG1 0 genome.wustl.edu 37 5 145883589 145883589 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 145883589 145883589 T - DEL TCERG1 ENST00000509787 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TCERG1 HGNC ENSG00000113649 46 0 0 49 13 20.9677 FBXO38 0 genome.wustl.edu 37 5 147806939 147806940 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 147806939 147806940 - A INS FBXO38 ENST00000340253 human ensembl 74_37 +1 known frame_shift_ins c.2082_2083 p.N696fs 1.000:1.000 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 43 0 0 52 11 17.4603 NDST1 0 genome.wustl.edu 37 5 149918818 149918819 + Frame_Shift_Ins INS - - CA TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 149918818 149918819 - CA INS NDST1 ENST00000261797 human ensembl 74_37 +1 known frame_shift_ins c.1466_1467 p.T493fs 1.000:1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 278 1 0.358423 276 59 17.6119 FAT2 0 genome.wustl.edu 37 5 150923356 150923357 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 150923356 150923357 - T INS FAT2 ENST00000261800 human ensembl 74_37 -1 known frame_shift_ins c.7332_7331 p.H2445fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 49 0 0 90 24 21.0526 SH3PXD2B 0 genome.wustl.edu 37 5 171781005 171781007 + In_Frame_Del DEL CTC CTC - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 171781005 171781007 CTC - DEL SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known in_frame_del c.672_670 p.E224in_frame_del 1.000:1.000:1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 76 0 0 86 22 20.3704 UNC5A 0 genome.wustl.edu 37 5 176305271 176305271 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 176305271 176305271 G - DEL UNC5A ENST00000329542 human ensembl 74_37 +1 known frame_shift_del c.1896 p.G634fs 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5A HGNC ENSG00000113763 52 0 0 88 11 11.1111 CANX 0 genome.wustl.edu 37 5 179149920 179149920 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 179149920 179149920 T - DEL CANX ENST00000415618 human ensembl 74_37 +1 known frame_shift_del c.1403 p.F470fs 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,prints_Calret/calnex pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CANX HGNC ENSG00000127022 164 1 0.606061 146 40 21.5054 CDH10 0 genome.wustl.edu 37 5 24487659 24487659 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 24487659 24487659 A - DEL CDH10 ENST00000502921 human ensembl 74_37 -1 known rna NULL NULL 0.128 - - - no_errors CDH10 HGNC ENSG00000040731 25 0 0 57 13 18.5714 ZFR 0 genome.wustl.edu 37 5 32355834 32355834 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 32355834 32355834 T - DEL ZFR ENST00000510369 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors ZFR HGNC ENSG00000056097 81 0 0 99 28 22.0472 ZFR 0 genome.wustl.edu 37 5 32404161 32404161 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 138 0 0 205 37 15.2893 GPX8 0 genome.wustl.edu 37 5 54460113 54460113 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 54460113 54460113 T - DEL GPX8 ENST00000506123 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX8 HGNC ENSG00000164294 21 0 0 28 3 9.67742 PLK2 0 genome.wustl.edu 37 5 57753012 57753012 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 60 0 0 82 24 22.6415 SREK1IP1 0 genome.wustl.edu 37 5 64020271 64020272 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 64020271 64020272 - T INS SREK1IP1 ENST00000513458 human ensembl 74_37 -1 known frame_shift_ins c.408_407 p.K137fs 1.000:1.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors SREK1IP1 HGNC ENSG00000153006 50 0 0 53 11 17.1875 SLC30A5 0 genome.wustl.edu 37 5 68398896 68398896 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 68398896 68398896 T - DEL SLC30A5 ENST00000396591 human ensembl 74_37 +1 known frame_shift_del c.214 p.F73fs 0.996 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 223 0 0 233 49 17.3759 WDR41 0 genome.wustl.edu 37 5 76728856 76728856 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 76728856 76728856 A - DEL WDR41 ENST00000512033 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors WDR41 HGNC ENSG00000164253 29 0 0 33 8 19.5122 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 217 0 0 210 99 32.0388 ZDHHC11 0 genome.wustl.edu 37 5 825347 825347 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 825347 825347 G - DEL ZDHHC11 ENST00000283441 human ensembl 74_37 -1 known frame_shift_del c.955 p.L319fs 0.003 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 150 0 0 157 25 13.7363 ERAP2 0 genome.wustl.edu 37 5 96232084 96232085 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 5 96232084 96232085 - T INS ERAP2 ENST00000437043 human ensembl 74_37 +1 known frame_shift_ins c.1247_1248 p.L418fs 0.000:0.002 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP2 HGNC ENSG00000164308 21 0 0 68 20 22.7273 AK9 0 genome.wustl.edu 37 6 109814598 109814599 + Frame_Shift_Ins INS - - GA TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 109814598 109814599 - GA INS AK9 ENST00000424296 human ensembl 74_37 -1 known frame_shift_ins c.5710_5709 p.R1903fs 0.760:0.106 NULL pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 332 0 0 365 83 18.5268 RSPH4A 0 genome.wustl.edu 37 6 116950769 116950771 + In_Frame_Del DEL GAA GAA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 116950769 116950771 GAA - DEL RSPH4A ENST00000229554 human ensembl 74_37 +1 known in_frame_del c.1702_1704 p.E571in_frame_del 0.993:0.985:0.878 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 106 0 0 125 32 20.3822 RNF217 0 genome.wustl.edu 37 6 125284072 125284072 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 125284072 125284072 C - DEL RNF217 ENST00000521654 human ensembl 74_37 +1 novel frame_shift_del c.382 p.G130fs 0.992 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 27 0 0 36 10 21.7391 FOXQ1 0 genome.wustl.edu 37 6 1313402 1313402 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 1313402 1313402 T - DEL FOXQ1 ENST00000296839 human ensembl 74_37 +1 known frame_shift_del c.463 p.F156fs 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXQ1 HGNC ENSG00000164379 84 0 0 84 17 16.8317 CCDC28A 0 genome.wustl.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 117 1 0.847458 139 35 20.1149 PHACTR2 0 genome.wustl.edu 37 6 144086413 144086414 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 144086413 144086414 - A INS PHACTR2 ENST00000440869 human ensembl 74_37 +1 known frame_shift_ins c.710_711 p.T240fs 0.746:0.153 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 146 0 0 187 40 17.6211 MYCT1 0 genome.wustl.edu 37 6 153019117 153019117 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 153019117 153019117 T - DEL MYCT1 ENST00000367245 human ensembl 74_37 +1 known frame_shift_del c.80 p.F29fs 0.997 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 50 0 0 106 9 7.82609 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 93 0 0 132 32 19.5122 FRMD1 0 genome.wustl.edu 37 6 168461462 168461463 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 168461462 168461463 - G INS FRMD1 ENST00000283309 human ensembl 74_37 -1 known frame_shift_ins c.1321_1320 p.S440fs 0.532:0.005 NULL pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD1 HGNC ENSG00000153303 65 0 0 55 11 16.6667 NHLRC1 0 genome.wustl.edu 37 6 18122226 18122226 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 18122226 18122226 A - DEL NHLRC1 ENST00000340650 human ensembl 74_37 -1 known frame_shift_del c.612 p.F204fs 0.001 pfscan_NHL_repeat_subgr smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC ENSG00000187566 79 0 0 76 31 28.972 GABBR1 0 genome.wustl.edu 37 6 29599254 29599254 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 29599254 29599254 C - DEL GABBR1 ENST00000377034 human ensembl 74_37 -1 known frame_shift_del c.208 p.E70fs 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 232 1 0.429185 242 61 20.132 DHX16 0 genome.wustl.edu 37 6 30621048 30621048 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 30621048 30621048 T - DEL DHX16 ENST00000376442 human ensembl 74_37 -1 known frame_shift_del c.3097 p.I1033fs 0.987 NULL 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 DHX16 HGNC ENSG00000204560 157 0 0 127 39 23.494 CCHCR1 0 genome.wustl.edu 37 6 31124699 31124699 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 31124699 31124699 G - DEL CCHCR1 ENST00000396268 human ensembl 74_37 -1 known frame_shift_del c.306 p.S103fs 0.938 NULL pfam_HCR - no_errors CCHCR1 HGNC ENSG00000204536 105 0 0 104 21 16.8 HLA-B 0 genome.wustl.edu 37 6 31324917 31324917 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 31324917 31324917 G - DEL HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_del c.19 p.R7fs 0.000 NULL 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 34 0 0 39 4 9.30233 PBX2 0 genome.wustl.edu 37 6 32157563 32157563 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 32157563 32157563 C - DEL PBX2 ENST00000375050 human ensembl 74_37 -1 known frame_shift_del c.130 p.V44fs 1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX2 HGNC ENSG00000204304 41 0 0 56 4 6.66667 GPSM3 0 genome.wustl.edu 37 6 32159229 32159230 + Frame_Shift_Ins INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 32159229 32159230 - C INS GPSM3 ENST00000375040 human ensembl 74_37 -1 known frame_shift_ins c.397_396 p.Q132fs 0.998:0.959 smart_GoLoco_motif,pfscan_GoLoco_motif pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors GPSM3 HGNC ENSG00000213654 134 0 0 167 32 16.0804 COL11A2 0 genome.wustl.edu 37 6 33154509 33154510 + Frame_Shift_Ins INS - - C TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 33154509 33154510 - C INS COL11A2 ENST00000341947 human ensembl 74_37 -1 known frame_shift_ins c.693_692 p.Q232fs 0.001:0.005 NULL 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 COL11A2 HGNC ENSG00000204248 211 0 0 196 42 17.6471 PHF1 0 genome.wustl.edu 37 6 33380050 33380050 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 33380050 33380050 C - DEL PHF1 ENST00000374516 human ensembl 74_37 +1 known frame_shift_del c.10 p.R6fs 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF1 HGNC ENSG00000112511 82 0 0 65 14 17.7215 DDX43 0 genome.wustl.edu 37 6 74110047 74110047 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 74110047 74110047 A - DEL DDX43 ENST00000370336 human ensembl 74_37 +1 known frame_shift_del c.397 p.K134fs 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 136 0 0 111 21 15.9091 COL12A1 0 genome.wustl.edu 37 6 75797396 75797397 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 75797396 75797397 - G INS COL12A1 ENST00000322507 human ensembl 74_37 -1 known frame_shift_ins c.9078_9077 p.G3027fs 0.093:1.000 NULL 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 166 1 0.598802 162 33 16.9231 DSP 0 genome.wustl.edu 37 6 7584027 7584027 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 7584027 7584027 A - DEL DSP ENST00000379802 human ensembl 74_37 +1 known frame_shift_del c.6532 p.K2179fs 1.000 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 103 0 0 123 17 12.1429 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 80751897 80751897 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2552 p.R854fs 0.102 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 26 0 0 67 10 12.987 ZNF292 0 genome.wustl.edu 37 6 87969484 87969484 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 87969484 87969484 A - DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.6137 p.S2049fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 9 0 0 16 7 30.4348 C6orf165 0 genome.wustl.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 88144700 88144700 A - DEL C6orf165 ENST00000369562 human ensembl 74_37 +1 known frame_shift_del c.1423 p.N477fs 1.000 pfam_DUF3508 pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 58 0 0 68 23 25.2747 MMS22L 0 genome.wustl.edu 37 6 97620979 97620979 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 6 97620979 97620979 T - DEL MMS22L ENST00000275053 human ensembl 74_37 -1 known frame_shift_del c.2799 p.V934fs 0.937 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 56 0 0 116 33 22.1477 GIGYF1 0 genome.wustl.edu 37 7 100285170 100285170 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 100285170 100285170 G - DEL GIGYF1 ENST00000275732 human ensembl 74_37 -1 known frame_shift_del c.331 p.L111fs 0.025 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 54 0 0 58 4 6.45161 AP1S1 0 genome.wustl.edu 37 7 100802405 100802405 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 100802405 100802405 G - DEL AP1S1 ENST00000337619 human ensembl 74_37 +1 known frame_shift_del c.357 p.D122fs 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 58 0 0 67 11 14.1026 VGF 0 genome.wustl.edu 37 7 100806691 100806693 + In_Frame_Del DEL CTC CTC - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 100806691 100806693 CTC - DEL VGF ENST00000249330 human ensembl 74_37 -1 known in_frame_del c.1434_1432 p.E478in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors VGF HGNC ENSG00000128564 37 0 0 36 7 16.2791 LRRC17 0 genome.wustl.edu 37 7 102584992 102584993 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 102584992 102584993 - A INS LRRC17 ENST00000339431 human ensembl 74_37 +1 known frame_shift_ins c.1264_1265 p.H425fs 1.000:1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 100 0 0 137 23 14.375 LAMB4 0 genome.wustl.edu 37 7 107703394 107703394 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 107703394 107703394 G - DEL LAMB4 ENST00000205386 human ensembl 74_37 -1 known frame_shift_del c.3107 p.P1036fs 0.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 54 0 0 91 7 7.14286 SVOPL 0 genome.wustl.edu 37 7 138279228 138279229 + RNA DEL AA AA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 138279228 138279229 AA - DEL SVOPL ENST00000463557 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors SVOPL HGNC ENSG00000157703 18 0 0 22 6 21.4286 TMEM139 0 genome.wustl.edu 37 7 142983891 142983891 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 142983891 142983891 T - DEL TMEM139 ENST00000359333 human ensembl 74_37 +1 known frame_shift_del c.620 p.Y209fs 1.000 NULL NULL - no_errors TMEM139 HGNC ENSG00000178826 303 0 0 283 52 15.5224 AOC1 0 genome.wustl.edu 37 7 150558259 150558259 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 150558259 150558259 C - DEL AOC1 ENST00000416793 human ensembl 74_37 +1 known frame_shift_del c.2275 p.P760fs 0.001 NULL pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 73 0 0 90 19 17.4312 CHPF2 0 genome.wustl.edu 37 7 150935383 150935383 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 150935383 150935383 C - DEL CHPF2 ENST00000035307 human ensembl 74_37 +1 known frame_shift_del c.1935 p.S648fs 0.983 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 42 0 0 77 8 9.41176 KMT2C 0 genome.wustl.edu 37 7 151856008 151856009 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 151856008 151856009 - T INS KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_ins c.11610_11609 p.D3871fs 1.000:1.000 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 374 0 0 478 82 14.6429 KMT2C 0 genome.wustl.edu 37 7 151874700 151874701 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 151874700 151874701 - G INS KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_ins c.7838_7837 p.Q2613fs 0.013:0.068 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 182 0 0 253 50 16.5017 NEUROD6 0 genome.wustl.edu 37 7 31378635 31378635 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 31378635 31378635 T - DEL NEUROD6 ENST00000297142 human ensembl 74_37 -1 known frame_shift_del c.248 p.K83fs 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD6 HGNC ENSG00000164600 278 1 0.358423 363 84 18.7919 FBXL18 0 genome.wustl.edu 37 7 5541183 5541183 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 5541183 5541183 G - DEL FBXL18 ENST00000453700 human ensembl 74_37 -1 known frame_shift_del c.717 p.G240fs 0.011 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXL18 HGNC ENSG00000155034 57 0 0 48 10 17.2414 CYTH3 0 genome.wustl.edu 37 7 6204578 6204578 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 6204578 6204578 T - DEL CYTH3 ENST00000350796 human ensembl 74_37 -1 known frame_shift_del c.1197 p.K399fs 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH3 HGNC ENSG00000008256 784 0 0 734 135 15.5351 CLDN4 0 genome.wustl.edu 37 7 73246063 73246063 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 73246063 73246063 G - DEL CLDN4 ENST00000340958 human ensembl 74_37 +1 known frame_shift_del c.532 p.L180fs 0.998 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin4 - no_errors CLDN4 HGNC ENSG00000189143 52 0 0 79 13 14.1304 TMEM60 0 genome.wustl.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 77423460 77423460 T - DEL TMEM60 ENST00000257663 human ensembl 74_37 -1 known frame_shift_del c.231 p.A78fs 0.998 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 221 1 0.45045 226 59 20.7018 PCLO 0 genome.wustl.edu 37 7 82582944 82582944 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 82582944 82582944 T - DEL PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_del c.7325 p.K2442fs 0.984 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 27 0 0 48 12 20 PPP1R9A 0 genome.wustl.edu 37 7 94917981 94917981 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 94917981 94917981 A - DEL PPP1R9A ENST00000289495 human ensembl 74_37 +1 known frame_shift_del c.3629 p.N1211fs 0.994 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 66 0 0 172 10 5.49451 CNPY4 0 genome.wustl.edu 37 7 99717402 99717402 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 7 99717402 99717402 T - DEL CNPY4 ENST00000262932 human ensembl 74_37 +1 known frame_shift_del c.35 p.L14fs 0.008 NULL pfam_DUF3456 - no_errors CNPY4 HGNC ENSG00000166997 97 0 0 118 30 20.2703 PTK2 0 genome.wustl.edu 37 8 141754889 141754890 + RNA DEL AA AA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 141754889 141754890 AA - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004 - - - no_errors PTK2 HGNC ENSG00000169398 35 0 0 40 8 16.6667 OPLAH 0 genome.wustl.edu 37 8 145109481 145109481 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 145109481 145109481 C - DEL OPLAH ENST00000426825 human ensembl 74_37 -1 known frame_shift_del c.2669 p.G890fs 0.999 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 37 0 0 40 8 16.6667 VPS28 0 genome.wustl.edu 37 8 145652341 145652341 + RNA DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 145652341 145652341 G - DEL VPS28 ENST00000526734 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VPS28 HGNC ENSG00000160948 32 0 0 37 4 9.7561 ADAM28 0 genome.wustl.edu 37 8 24167472 24167473 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 24167472 24167473 - A INS ADAM28 ENST00000265769 human ensembl 74_37 +1 known frame_shift_ins c.216_217 p.N74fs 1.000:1.000 pfam_Peptidase_M12B_N 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 25 0 0 93 29 23.7705 INTS9 0 genome.wustl.edu 37 8 28633400 28633400 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 28633400 28633400 G - DEL INTS9 ENST00000521022 human ensembl 74_37 -1 known frame_shift_del c.1439 p.P480fs 0.734 NULL pfam_Beta_Casp - no_errors INTS9 HGNC ENSG00000104299 80 0 0 119 10 7.75194 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 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 49 0 0 95 25 20.8333 SNORA72 0 genome.wustl.edu 37 8 99054837 99054837 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 8 99054837 99054837 A - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 80 0 0 78 19 19.5876 XPA 0 genome.wustl.edu 37 9 100437696 100437697 + RNA INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 100437696 100437697 - A INS XPA ENST00000485042 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.004 - - - no_errors XPA HGNC ENSG00000136936 31 0 0 45 16 26.2295 SMC2 0 genome.wustl.edu 37 9 106862422 106862422 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 106862422 106862422 A - DEL SMC2 ENST00000286398 human ensembl 74_37 +1 known frame_shift_del c.529 p.I179fs 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 32 0 0 41 6 12.766 ZNF462 0 genome.wustl.edu 37 9 109689491 109689491 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 109689491 109689491 C - DEL ZNF462 ENST00000457913 human ensembl 74_37 +1 known frame_shift_del c.3298 p.P1102fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 40 0 0 49 8 14.0351 SVEP1 0 genome.wustl.edu 37 9 113241917 113241917 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 113241917 113241917 T - DEL SVEP1 ENST00000401783 human ensembl 74_37 -1 known frame_shift_del c.2485 p.M829fs 1.000 NULL pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 159 0 0 323 92 22.1687 MIR4668 0 genome.wustl.edu 37 9 114694384 114694385 + RNA DEL AA AA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 114694384 114694385 AA - DEL MIR4668 ENST00000582284 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR4668 HGNC ENSG00000266315 39 0 0 32 35 52.2388 SPTAN1 0 genome.wustl.edu 37 9 131339206 131339207 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 131339206 131339207 - G INS SPTAN1 ENST00000358161 human ensembl 74_37 +1 known frame_shift_ins c.756_757 p.A253fs 0.990:1.000 NULL pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 49 0 0 57 22 27.8481 FNBP1 0 genome.wustl.edu 37 9 132687243 132687243 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 132687243 132687243 T - DEL FNBP1 ENST00000446176 human ensembl 74_37 -1 known frame_shift_del c.983 p.N328fs 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 16 0 0 30 8 21.0526 NCS1 0 genome.wustl.edu 37 9 132980141 132980142 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 132980141 132980142 - G INS NCS1 ENST00000372398 human ensembl 74_37 +1 known frame_shift_ins c.120_121 p.Q41fs 0.999:1.000 prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors NCS1 HGNC ENSG00000107130 216 0 0 213 41 16.1417 FUBP3 0 genome.wustl.edu 37 9 133506076 133506076 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 133506076 133506076 C - DEL FUBP3 ENST00000319725 human ensembl 74_37 +1 known frame_shift_del c.1179 p.P395fs 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC ENSG00000107164 85 0 0 93 15 13.8889 AK8 0 genome.wustl.edu 37 9 135753607 135753607 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 135753607 135753607 G - DEL AK8 ENST00000298545 human ensembl 74_37 -1 known frame_shift_del c.36 p.E13fs 0.965 superfamily_cAMP_dep_PK_reg_su_I/II_a/b pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 68 0 0 51 7 12.069 NPDC1 0 genome.wustl.edu 37 9 139934526 139934526 + RNA DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 139934526 139934526 G - DEL NPDC1 ENST00000472668 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors NPDC1 HGNC ENSG00000107281 43 0 0 54 6 10 CNTLN 0 genome.wustl.edu 37 9 17135271 17135271 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 17135271 17135271 G - DEL CNTLN ENST00000380647 human ensembl 74_37 +1 known frame_shift_del c.208 p.A72fs 0.002 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 15 0 0 16 8 33.3333 SPINK4 0 genome.wustl.edu 37 9 33246634 33246635 + Frame_Shift_Del DEL AG AG - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 33246634 33246635 AG - DEL SPINK4 ENST00000379723 human ensembl 74_37 +1 known frame_shift_del c.192_193 p.E65fs 0.002:0.181 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK4 HGNC ENSG00000122711 98 0 0 149 34 18.5792 PTENP1 0 genome.wustl.edu 37 9 33675365 33675365 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 33675365 33675365 A - DEL PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PTENP1 HGNC ENSG00000237984 8 0 0 9 7 43.75 DNAJB5 0 genome.wustl.edu 37 9 34996554 34996554 + Frame_Shift_Del DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 34996554 34996554 C - DEL DNAJB5 ENST00000454002 human ensembl 74_37 +1 known frame_shift_del c.720 p.P242fs 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB5 HGNC ENSG00000137094 45 0 0 58 6 9.375 KGFLP2 0 genome.wustl.edu 37 9 41962603 41962603 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 41962603 41962603 T - DEL KGFLP2 ENST00000454645 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-204M4.2 Clone_based_vega_gene ENSG00000204837 39 0 0 53 6 10.1695 KDM4C 0 genome.wustl.edu 37 9 7169998 7169999 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 7169998 7169999 - A INS KDM4C ENST00000381306 human ensembl 74_37 +1 known frame_shift_ins c.3102_3103 p.S1036fs 0.006:0.000 NULL 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 KDM4C HGNC ENSG00000107077 14 0 0 12 5 29.4118 PCSK5 0 genome.wustl.edu 37 9 78804619 78804620 + Frame_Shift_Ins INS - - T TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 78804619 78804620 - T INS PCSK5 ENST00000545128 human ensembl 74_37 +1 known frame_shift_ins c.2583_2584 p.L861fs 1.000:1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,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,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 33 0 0 83 23 21.6981 VPS13A 0 genome.wustl.edu 37 9 79999547 79999548 + In_Frame_Ins INS - - TGA TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 79999547 79999548 - TGA INS VPS13A ENST00000357409 human ensembl 74_37 +1 known in_frame_ins c.9236_9237 p.3083in_frame_insD 1.000:0.999 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 86 0 0 88 23 20.7207 AGTPBP1 0 genome.wustl.edu 37 9 88236193 88236193 + Frame_Shift_Del DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 88236193 88236193 T - DEL AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known frame_shift_del c.2059 p.I687fs 1.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 43 0 0 42 9 17.6471 ASPN 0 genome.wustl.edu 37 9 95236979 95236979 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 95236979 95236979 A - DEL ASPN ENST00000375544 human ensembl 74_37 -1 known frame_shift_del c.201 p.P68fs 0.936 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 57 0 0 76 19 20 WNK2 0 genome.wustl.edu 37 9 96062482 96062482 + RNA DEL C C - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 9 96062482 96062482 C - DEL WNK2 ENST00000479696 human ensembl 74_37 +1 known rna NULL NULL 0.095 - - - no_errors WNK2 HGNC ENSG00000165238 105 0 0 84 18 17.6471 BTK 0 genome.wustl.edu 37 X 100608059 100608062 + RNA DEL AAAA AAAA - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 100608059 100608062 AAAA - DEL BTK ENST00000470069 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.016:0.023:0.027 - - - no_errors BTK HGNC ENSG00000010671 24 0 0 34 13 27.6596 OFD1 0 genome.wustl.edu 37 X 13787350 13787350 + RNA DEL T T - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 13787350 13787350 T - DEL OFD1 ENST00000490265 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors OFD1 HGNC ENSG00000046651 18 0 0 29 14 32.5581 ASB11 0 genome.wustl.edu 37 X 15333660 15333660 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 15333660 15333660 A - DEL ASB11 ENST00000480796 human ensembl 74_37 -1 known frame_shift_del c.68 p.F23fs 1.000 NULL 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 ASB11 HGNC ENSG00000165192 99 0 0 62 43 40.9524 CTPS2 0 genome.wustl.edu 37 X 16609020 16609020 + RNA DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 16609020 16609020 A - DEL CTPS2 ENST00000483053 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTPS2 HGNC ENSG00000047230 32 0 0 17 14 45.1613 BCOR 0 genome.wustl.edu 37 X 39931787 39931788 + Frame_Shift_Ins INS - - G TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 39931787 39931788 - G INS BCOR ENST00000378444 human ensembl 74_37 -1 known frame_shift_ins c.2812_2811 p.T937fs 0.999:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 36 0 0 32 26 44.8276 KDM6A 0 genome.wustl.edu 37 X 44922797 44922798 + Frame_Shift_Del DEL TC TC - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 44922797 44922798 TC - DEL KDM6A ENST00000382899 human ensembl 74_37 +1 known frame_shift_del c.1679_1680 p.Q562fs 1.000:1.000 NULL pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 38 0 0 57 11 16.1765 ZC4H2 0 genome.wustl.edu 37 X 64139033 64139033 + Frame_Shift_Del DEL G G - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 64139033 64139033 G - DEL ZC4H2 ENST00000374839 human ensembl 74_37 -1 known frame_shift_del c.450 p.I151fs 1.000 pfam_Znf-C4H2 pfam_Znf-C4H2 - no_errors ZC4H2 HGNC ENSG00000126970 26 0 0 32 6 15.7895 TEX11 0 genome.wustl.edu 37 X 70127618 70127618 + Frame_Shift_Del DEL A A - TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 70127618 70127618 A - DEL TEX11 ENST00000374333 human ensembl 74_37 -1 known frame_shift_del c.22 p.S8fs 0.008 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 50 0 0 34 21 38.1818 NAP1L2 0 genome.wustl.edu 37 X 72433105 72433106 + Frame_Shift_Ins INS - - A TCGA-CG-4306-01A-01D-1158-08 TCGA-CG-4306-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 87515ac6-17e2-43ac-a6ed-af54e8fa3e8f c6b012b4-95e2-4c81-a11d-931c8a2ba665 X 72433105 72433106 - A INS NAP1L2 ENST00000373517 human ensembl 74_37 -1 known frame_shift_ins c.1224_1223 p.S409fs 0.999:1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 53 0 0 44 16 26.6667