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 LRRC39 0 genome.wustl.edu 37 1 100614640 100614640 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 1 100614640 100614640 G A SNP LRRC39 ENST00000342895 human ensembl 74_37 -1 known silent c.966 p.N322 0.028 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC39 HGNC ENSG00000122477 128 0 0 26 3 10.3448 NTNG1 0 genome.wustl.edu 37 1 107867370 107867370 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 1 107867370 107867370 G A SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.713 p.R238H 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 99 0 0 51 11 17.7419 SPAG17 0 genome.wustl.edu 37 1 118624180 118624180 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 1 118624180 118624180 C T SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known silent c.1848 p.G616 0.020 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 171 0 0 85 21 19.8113 OR6Y1 0 genome.wustl.edu 37 1 158517100 158517100 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 1 158517100 158517100 G A SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.796 p.R266C 0.103 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 226 0 0 103 21 16.9355 TDRD5 0 genome.wustl.edu 37 1 179587765 179587765 + Missense_Mutation SNP A A G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 1 179587765 179587765 A G SNP TDRD5 ENST00000444136 human ensembl 74_37 +1 known missense c.863 p.Q288R 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 107 0 0 28 3 9.67742 CACNA1E 0 genome.wustl.edu 37 1 181706750 181706750 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 1 181706750 181706750 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.3512 p.A1171V 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 245 0 0 75 86 53.4161 IVNS1ABP 0 genome.wustl.edu 37 1 185270181 185270181 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 1 185270181 185270181 T C SNP IVNS1ABP ENST00000367498 human ensembl 74_37 -1 known missense c.1043 p.E348G 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,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 IVNS1ABP HGNC ENSG00000116679 109 0 0 36 51 58.6207 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 402 1 0.248139 133 75 36.0577 SIPA1L2 0 genome.wustl.edu 37 1 232615460 232615460 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 1 232615460 232615460 C T SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known silent c.1998 p.T666 0.118 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 107 0 0 61 7 10.2941 OR2G6 0 genome.wustl.edu 37 1 248685576 248685576 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 1 248685576 248685576 C T SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.629 p.P210L 0.091 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 169 0 0 83 14 14.433 ARID1A 0 genome.wustl.edu 37 1 27099124 27099124 + Splice_Site SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 1 27099124 27099124 G A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known splice_site c.3539+1 e13+1 1.000 - - - no_errors ARID1A HGNC ENSG00000117713 108 0 0 26 44 62.8571 TP73-AS1 0 genome.wustl.edu 37 1 3662850 3662850 + Splice_Site SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 1 3662850 3662850 C T SNP TP73-AS1 ENST00000418088 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.008 - - - no_errors TP73-AS1 HGNC ENSG00000227372 16 0 0 3 3 50 C1orf87 0 genome.wustl.edu 37 1 60499178 60499178 + Silent SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 1 60499178 60499178 G T SNP C1orf87 ENST00000371201 human ensembl 74_37 -1 known silent c.999 p.R333 0.206 NULL NULL - no_errors C1orf87 HGNC ENSG00000162598 159 0 0 69 47 40.5172 MGEA5 0 genome.wustl.edu 37 10 103550838 103550838 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 10 103550838 103550838 C T SNP MGEA5 ENST00000361464 human ensembl 74_37 -1 known missense c.2269 p.G757R 1.000 superfamily_Acyl_CoA_acyltransferase pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 132 0 0 56 4 6.66667 SORCS1 0 genome.wustl.edu 37 10 108923946 108923946 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 10 108923946 108923946 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known silent c.339 p.A113 0.258 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 75 0 0 61 11 15.2778 DCLRE1A 0 genome.wustl.edu 37 10 115609996 115609996 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 10 115609996 115609996 C T SNP DCLRE1A ENST00000361384 human ensembl 74_37 -1 known missense c.868 p.E290K 1.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 153 0 0 79 5 5.95238 PNLIP 0 genome.wustl.edu 37 10 118320019 118320019 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 10 118320019 118320019 G A SNP PNLIP ENST00000369221 human ensembl 74_37 +1 known silent c.1152 p.K384 0.967 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 73 0 0 16 16 50 MGMT 0 genome.wustl.edu 37 10 131334524 131334524 + Missense_Mutation SNP A A G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 10 131334524 131334524 A G SNP MGMT ENST00000306010 human ensembl 74_37 +1 known missense c.101 p.K34R 0.000 NULL pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd - no_errors MGMT HGNC ENSG00000170430 122 0 0 85 8 8.60215 TTC40 0 genome.wustl.edu 37 10 134742984 134742984 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 10 134742984 134742984 C T SNP TTC40 ENST00000368585 human ensembl 74_37 -1 known silent c.1191 p.T397 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 27 0 0 16 11 40.7407 ITGA8 0 genome.wustl.edu 37 10 15628600 15628600 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 10 15628600 15628600 C T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known silent c.2355 p.A785 0.924 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 77 0 0 37 20 35.0877 PTCHD3 0 genome.wustl.edu 37 10 27702628 27702628 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 10 27702628 27702628 G A SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known silent c.552 p.F184 0.037 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 324 1 0.307692 207 163 44.0541 ZNF438 0 genome.wustl.edu 37 10 31139181 31139181 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 10 31139181 31139181 C T SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known silent c.153 p.L51 0.993 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 199 0 0 173 73 29.6748 ARHGAP12 0 genome.wustl.edu 37 10 32150542 32150542 + Silent SNP A A G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 10 32150542 32150542 A G SNP ARHGAP12 ENST00000344936 human ensembl 74_37 -1 known silent c.729 p.Y243 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP12 HGNC ENSG00000165322 88 0 0 68 14 17.0732 BMS1 0 genome.wustl.edu 37 10 43287160 43287160 + Missense_Mutation SNP T T G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 10 43287160 43287160 T G SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known missense c.722 p.V241G 1.000 pfam_AARP2CN,superfamily_P-loop_NTPase,smart_AARP2CN pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 276 0 0 58 14 19.4444 RET 0 genome.wustl.edu 37 10 43596039 43596039 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 10 43596039 43596039 G A SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.206 p.G69D 1.000 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 73 0 0 64 10 13.5135 SIRT1 0 genome.wustl.edu 37 10 69672419 69672419 + Nonsense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 10 69672419 69672419 C T SNP SIRT1 ENST00000212015 human ensembl 74_37 +1 known nonsense c.1546 p.R516* 1.000 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 109 0 0 40 6 13.0435 IFIT1B 0 genome.wustl.edu 37 10 91143907 91143907 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 10 91143907 91143907 G A SNP IFIT1B ENST00000371809 human ensembl 74_37 +1 known silent c.837 p.E279 0.005 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC ENSG00000204010 306 0 0 147 9 5.76923 ATM 0 genome.wustl.edu 37 11 108175544 108175544 + Missense_Mutation SNP C C G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 11 108175544 108175544 C G SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.5639 p.T1880R 0.077 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 103 0 0 17 11 39.2857 DSCAML1 0 genome.wustl.edu 37 11 117299086 117299086 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 11 117299086 117299086 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.6300 p.K2100 1.000 NULL 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 164 0 0 47 40 45.977 MICAL2 0 genome.wustl.edu 37 11 12229626 12229626 + Missense_Mutation SNP A A T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 11 12229626 12229626 A T SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.529 p.I177F 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 220 0 0 112 80 41.6667 CHEK1 0 genome.wustl.edu 37 11 125514068 125514068 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 11 125514068 125514068 G A SNP CHEK1 ENST00000438015 human ensembl 74_37 +1 known missense c.1006 p.D336N 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CHEK1 HGNC ENSG00000149554 211 0 0 91 7 7.14286 SOX6 0 genome.wustl.edu 37 11 16256163 16256163 + Missense_Mutation SNP C C G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 11 16256163 16256163 C G SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known missense c.500 p.R167T 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 21 0 0 10 2 16.6667 KCNA4 0 genome.wustl.edu 37 11 30032457 30032457 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 11 30032457 30032457 G A SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known missense c.1769 p.P590L 1.000 NULL 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 67 0 0 70 18 20.4545 OR4C3 0 genome.wustl.edu 37 11 48346854 48346854 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 11 48346854 48346854 G A SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known missense c.362 p.C121Y 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 499 0 0 405 67 14.1949 OR4C46 0 genome.wustl.edu 37 11 51515370 51515370 + Missense_Mutation SNP T T G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 11 51515370 51515370 T G SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known missense c.89 p.F30C 0.014 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 209 0 0 127 88 40.9302 OR4C11 0 genome.wustl.edu 37 11 55371644 55371644 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 11 55371644 55371644 G A SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known missense c.206 p.S69F 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 OR4C11 HGNC ENSG00000172188 192 0 0 67 28 29.4737 EML3 0 genome.wustl.edu 37 11 62376557 62376557 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 11 62376557 62376557 C T SNP EML3 ENST00000529309 human ensembl 74_37 -1 known missense c.806 p.R269H 1.000 pfam_HELP,superfamily_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 281 1 0.35461 519 65 11.1301 CARNS1 0 genome.wustl.edu 37 11 67186995 67186995 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 11 67186995 67186995 G A SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known missense c.890 p.R297Q 0.291 NULL superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 34 0 0 1 19 95 KLRC1 0 genome.wustl.edu 37 12 10603730 10603730 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 12 10603730 10603730 G A SNP KLRC1 ENST00000359151 human ensembl 74_37 -1 known missense c.26 p.S9L 0.000 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC1 HGNC ENSG00000134545 80 0 0 42 6 12.5 MMP17 0 genome.wustl.edu 37 12 132329865 132329865 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 12 132329865 132329865 C T SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known missense c.1075 p.R359W 0.997 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 45 0 0 31 18 36.7347 SLC4A8 0 genome.wustl.edu 37 12 51882580 51882580 + Missense_Mutation SNP T T G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 12 51882580 51882580 T G SNP SLC4A8 ENST00000453097 human ensembl 74_37 +1 known missense c.2384 p.I795S 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 141 0 0 62 9 12.6761 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 144 0 0 34 40 54.0541 SP1 0 genome.wustl.edu 37 12 53776035 53776035 + Nonsense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 12 53776035 53776035 C T SNP SP1 ENST00000327443 human ensembl 74_37 +1 known nonsense c.304 p.Q102* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 90 0 0 32 24 42.8571 CALCOCO1 0 genome.wustl.edu 37 12 54109688 54109688 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 12 54109688 54109688 G A SNP CALCOCO1 ENST00000550804 human ensembl 74_37 -1 known silent c.1149 p.S383 1.000 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 75 0 0 50 13 20.6349 NEUROD4 0 genome.wustl.edu 37 12 55420273 55420273 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 12 55420273 55420273 C T SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.50 p.T17I 0.969 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 NEUROD4 HGNC ENSG00000123307 86 0 0 19 15 44.1176 MMP19 0 genome.wustl.edu 37 12 56234970 56234970 + Missense_Mutation SNP G G C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 12 56234970 56234970 G C SNP MMP19 ENST00000322569 human ensembl 74_37 -1 known missense c.224 p.A75G 0.516 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP19 HGNC ENSG00000123342 135 0 0 93 13 12.2642 A2M 0 genome.wustl.edu 37 12 9254201 9254201 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 12 9254201 9254201 G T SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.1336 p.H446N 0.867 superfamily_Beta-lactam/transpept-like pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 53 0 0 24 6 20 USP44 0 genome.wustl.edu 37 12 95926835 95926835 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 12 95926835 95926835 C A SNP USP44 ENST00000258499 human ensembl 74_37 -1 known missense c.1198 p.V400F 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP44 HGNC ENSG00000136014 162 0 0 45 51 53.125 MIPEP 0 genome.wustl.edu 37 13 24380153 24380153 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 13 24380153 24380153 G A SNP MIPEP ENST00000382172 human ensembl 74_37 -1 known missense c.1784 p.S595L 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors MIPEP HGNC ENSG00000027001 200 0 0 97 40 29.1971 LECT1 0 genome.wustl.edu 37 13 53298181 53298181 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 13 53298181 53298181 C T SNP LECT1 ENST00000377962 human ensembl 74_37 -1 known missense c.419 p.R140H 0.393 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors LECT1 HGNC ENSG00000136110 94 0 0 59 14 19.1781 MYCBP2 0 genome.wustl.edu 37 13 77754282 77754282 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 13 77754282 77754282 C T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.5113 p.A1705T 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 108 0 0 44 34 43.5897 INF2 0 genome.wustl.edu 37 14 105174317 105174317 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 14 105174317 105174317 G A SNP INF2 ENST00000392634 human ensembl 74_37 +1 known silent c.1713 p.K571 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 103 0 0 54 25 31.6456 PACS2 0 genome.wustl.edu 37 14 105836184 105836184 + Missense_Mutation SNP A A T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 14 105836184 105836184 A T SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known missense c.748 p.N250Y 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 22 0 0 7 9 56.25 ARHGAP5 0 genome.wustl.edu 37 14 32561296 32561296 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 14 32561296 32561296 T C SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.1421 p.V474A 1.000 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 166 1 0.598802 51 22 30.137 KCNH5 0 genome.wustl.edu 37 14 63417125 63417125 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 14 63417125 63417125 G A SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known silent c.1095 p.C365 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 142 0 0 101 11 9.82143 CHEK2P2 0 genome.wustl.edu 37 15 20496610 20496610 + RNA SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 15 20496610 20496610 G A SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 0.763 - - - no_errors CHEK2P2 HGNC ENSG00000259156 70 0 0 74 4 5.12821 HERC2P3 0 genome.wustl.edu 37 15 20588661 20588661 + RNA SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 15 20588661 20588661 C A SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors HERC2P3 HGNC ENSG00000180229 81 0 0 55 7 11.2903 DISP2 0 genome.wustl.edu 37 15 40656717 40656717 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 15 40656717 40656717 G T SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known missense c.575 p.R192L 0.032 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 165 0 0 143 12 7.74194 DISP2 0 genome.wustl.edu 37 15 40661395 40661395 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 15 40661395 40661395 C A SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known missense c.3082 p.L1028I 1.000 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 206 0 0 204 33 13.9241 PLA2G4F 0 genome.wustl.edu 37 15 42438358 42438358 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 15 42438358 42438358 C T SNP PLA2G4F ENST00000397272 human ensembl 74_37 -1 known missense c.1507 p.V503I 0.998 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 141 0 0 90 31 25.6198 CAPN3 0 genome.wustl.edu 37 15 42652295 42652295 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 15 42652295 42652295 G A SNP CAPN3 ENST00000397163 human ensembl 74_37 +1 known missense c.292 p.V98I 0.996 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 527 0 0 274 139 33.6562 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 86 0 0 24 34 58.6207 UNC13C 0 genome.wustl.edu 37 15 54306827 54306827 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 15 54306827 54306827 G T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.1727 p.S576I 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 80 0 0 36 29 44.6154 BNC1 0 genome.wustl.edu 37 15 83932806 83932806 + Silent SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 15 83932806 83932806 T C SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known silent c.1197 p.L399 0.998 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 185 0 0 117 106 47.5336 DNM1P51 0 genome.wustl.edu 37 15 84959919 84959919 + RNA SNP T T G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 15 84959919 84959919 T G SNP DNM1P51 ENST00000558801 human ensembl 74_37 -1 known rna NULL NULL 0.666 - - - no_errors DNM1P51 HGNC ENSG00000235370 14 0 0 12 4 25 NTRK3 0 genome.wustl.edu 37 15 88420326 88420326 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 15 88420326 88420326 C T SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.2360 p.R787H 0.999 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_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 73 0 0 62 20 24.3902 ECI1 0 genome.wustl.edu 37 16 2290000 2290000 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 16 2290000 2290000 G A SNP ECI1 ENST00000301729 human ensembl 74_37 -1 known missense c.889 p.L297F 0.991 NULL pfam_Crotonase_core_superfam - no_errors ECI1 HGNC ENSG00000167969 169 0 0 57 60 51.2821 OR1F1 0 genome.wustl.edu 37 16 3254578 3254578 + Missense_Mutation SNP A A G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 16 3254578 3254578 A G SNP OR1F1 ENST00000304646 human ensembl 74_37 +1 known missense c.332 p.D111G 0.012 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 OR1F1 HGNC ENSG00000168124 308 1 0.323625 255 33 11.4583 ENSG00000260621 0 genome.wustl.edu 37 16 56443272 56443272 + RNA SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 16 56443272 56443272 T C SNP ENSG00000260621 ENST00000563090 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-413H22.2 Clone_based_vega_gene ENSG00000260621 132 0 0 22 41 65.0794 ZFHX3 0 genome.wustl.edu 37 16 72821614 72821614 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 16 72821614 72821614 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.10561 p.G3521S 0.287 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 111 0 0 49 19 27.9412 DNAAF1 0 genome.wustl.edu 37 16 84203642 84203642 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 16 84203642 84203642 C A SNP DNAAF1 ENST00000378553 human ensembl 74_37 +1 known missense c.1208 p.A403D 0.000 NULL NULL - no_errors DNAAF1 HGNC ENSG00000154099 138 0 0 103 17 14.1667 CCDC144NL 0 genome.wustl.edu 37 17 20799061 20799061 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 17 20799061 20799061 G A SNP CCDC144NL ENST00000327925 human ensembl 74_37 -1 known silent c.273 p.G91 0.015 NULL NULL - no_errors CCDC144NL HGNC ENSG00000205212 217 0 0 37 73 66.3636 SGSM2 0 genome.wustl.edu 37 17 2279113 2279113 + Missense_Mutation SNP G G C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 17 2279113 2279113 G C SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known missense c.2428 p.A810P 0.647 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 175 0 0 48 43 47.2527 SPAG5 0 genome.wustl.edu 37 17 26919760 26919760 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 17 26919760 26919760 C T SNP SPAG5 ENST00000321765 human ensembl 74_37 -1 known missense c.502 p.D168N 0.263 NULL NULL - no_errors SPAG5 HGNC ENSG00000076382 212 0 0 75 35 31.8182 SCN4A 0 genome.wustl.edu 37 17 62019209 62019209 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 17 62019209 62019209 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.4433 p.S1478L 0.999 pfam_Ion_trans_dom,pfam_PKD1_2_channel 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 131 0 0 59 22 27.1605 TTYH2 0 genome.wustl.edu 37 17 72233438 72233438 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 17 72233438 72233438 C T SNP TTYH2 ENST00000269346 human ensembl 74_37 +1 known silent c.420 p.S140 0.003 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 221 0 0 114 31 21.3793 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 96 0 0 28 30 51.7241 MYOM1 0 genome.wustl.edu 37 18 3188832 3188832 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 18 3188832 3188832 C T SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known missense c.685 p.A229T 0.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 77 0 0 41 15 26.7857 SETBP1 0 genome.wustl.edu 37 18 42531860 42531860 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 18 42531860 42531860 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.2555 p.T852M 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 103 0 0 49 13 20.9677 LAMA1 0 genome.wustl.edu 37 18 7017315 7017315 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 18 7017315 7017315 T C SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.2770 p.K924E 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 64 0 0 39 3 7.14286 SMARCA4 0 genome.wustl.edu 37 19 11134252 11134252 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 19 11134252 11134252 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.2918 p.R973Q 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 38 0 0 4 23 85.1852 EMR2 0 genome.wustl.edu 37 19 14862365 14862365 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 19 14862365 14862365 T C SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known missense c.1907 p.Y636C 0.010 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 160 0 0 70 81 53.6424 IL12RB1 0 genome.wustl.edu 37 19 18179266 18179266 + Silent SNP G G C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 19 18179266 18179266 G C SNP IL12RB1 ENST00000593993 human ensembl 74_37 -1 known silent c.1260 p.A420 0.675 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC ENSG00000096996 221 0 0 153 13 7.83133 ZNF492 0 genome.wustl.edu 37 19 22847938 22847938 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 19 22847938 22847938 C T SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known silent c.1467 p.S489 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 66 0 0 7 16 69.5652 ZNF569 0 genome.wustl.edu 37 19 37903672 37903672 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 19 37903672 37903672 C T SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known missense c.1888 p.G630S 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF569 HGNC ENSG00000196437 192 0 0 75 9 10.7143 ZFR2 0 genome.wustl.edu 37 19 3822080 3822080 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 19 3822080 3822080 C A SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known missense c.1490 p.R497L 1.000 smart_Znf_U1 pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 20 0 0 12 6 33.3333 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 221 0 0 131 45 25.5682 PLIN4 0 genome.wustl.edu 37 19 4510934 4510934 + Missense_Mutation SNP T T G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 19 4510934 4510934 T G SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.2996 p.Q999P 0.280 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 66 0 0 77 11 12.5 IRF2BP1 0 genome.wustl.edu 37 19 46388028 46388028 + Silent SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 19 46388028 46388028 G T SNP IRF2BP1 ENST00000302165 human ensembl 74_37 -1 known silent c.1005 p.T335 0.351 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP1 HGNC ENSG00000170604 97 0 0 36 11 23.4043 LILRA3 0 genome.wustl.edu 37 19 54803070 54803070 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 19 54803070 54803070 G A SNP LILRA3 ENST00000251390 human ensembl 74_37 -1 known missense c.607 p.R203C 0.000 pirsf_A1B_glyco/leuk_Ig-like_rcpt pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA3 HGNC ENSG00000170866 259 0 0 43 136 75.9777 LAIR1 0 genome.wustl.edu 37 19 54872503 54872503 + RNA SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 19 54872503 54872503 G A SNP LAIR1 ENST00000484116 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LAIR1 HGNC ENSG00000167613 163 0 0 99 27 21.4286 GPR45 0 genome.wustl.edu 37 2 105859311 105859311 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 105859311 105859311 C T SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known silent c.996 p.R332 0.932 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 215 0 0 138 112 44.8 GREB1 0 genome.wustl.edu 37 2 11750887 11750887 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 11750887 11750887 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.2740 p.V914I 0.157 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 117 0 0 110 73 39.8907 NEB 0 genome.wustl.edu 37 2 152521048 152521048 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 152521048 152521048 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.5418 p.K1806 0.989 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 18 0 0 4 6 60 TTN 0 genome.wustl.edu 37 2 179472320 179472320 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 179472320 179472320 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.45391 p.R15131C 0.999 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 453 1 0.220264 163 38 18.9055 TTN 0 genome.wustl.edu 37 2 179483531 179483531 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 179483531 179483531 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.39042 p.G13014 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 32 0 0 26 6 18.75 TTN 0 genome.wustl.edu 37 2 179501304 179501304 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 179501304 179501304 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.33446 p.T11149K 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 121 0 0 54 13 19.403 TNS1 0 genome.wustl.edu 37 2 218700881 218700881 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 218700881 218700881 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.2686 p.R896W 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 113 0 0 90 20 18.1818 STK36 0 genome.wustl.edu 37 2 219558685 219558685 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 219558685 219558685 G A SNP STK36 ENST00000295709 human ensembl 74_37 +1 known missense c.2315 p.R772Q 0.987 superfamily_ARM-type_fold 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_Prot_kinase_dom - no_errors STK36 HGNC ENSG00000163482 146 0 0 41 31 43.0556 DOCK10 0 genome.wustl.edu 37 2 225669928 225669928 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 225669928 225669928 G A SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.4046 p.S1349L 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 168 0 0 73 15 17.0455 COL6A3 0 genome.wustl.edu 37 2 238259791 238259791 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 238259791 238259791 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.6798 p.T2266 0.102 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 147 0 0 77 49 38.8889 OTOF 0 genome.wustl.edu 37 2 26684574 26684574 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 26684574 26684574 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.5523 p.D1841 0.958 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 138 0 0 35 75 68.1818 OTOF 0 genome.wustl.edu 37 2 26702140 26702140 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 26702140 26702140 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.2206 p.D736N 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 39 0 0 24 5 17.2414 OTOF 0 genome.wustl.edu 37 2 26712138 26712138 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 26712138 26712138 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.986 p.R329H 1.000 superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 46 0 0 13 30 69.7674 XDH 0 genome.wustl.edu 37 2 31595105 31595105 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 31595105 31595105 G A SNP XDH ENST00000379416 human ensembl 74_37 -1 known silent c.1845 p.H615 0.832 pfam_Ald_Oxase/Xan_DH_a/b,superfamily_Ald_Oxase/Xan_DH_a/b,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 248 0 0 206 42 16.9355 MSH2 0 genome.wustl.edu 37 2 47639634 47639634 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 47639634 47639634 C T SNP MSH2 ENST00000233146 human ensembl 74_37 +1 known missense c.727 p.R243W 1.000 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 115 0 0 14 19 57.5758 LRRTM1 0 genome.wustl.edu 37 2 80530432 80530432 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 2 80530432 80530432 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.513 p.N171 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 112 0 0 56 30 34.8837 NAPB 0 genome.wustl.edu 37 20 23370597 23370597 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 20 23370597 23370597 C T SNP NAPB ENST00000377026 human ensembl 74_37 -1 known missense c.547 p.E183K 1.000 prints_NSF_attach prints_NSF_attach - no_errors NAPB HGNC ENSG00000125814 200 0 0 91 54 37.2414 TPX2 0 genome.wustl.edu 37 20 30371652 30371652 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 20 30371652 30371652 G T SNP TPX2 ENST00000340513 human ensembl 74_37 +1 known missense c.1449 p.K483N 0.998 pfam_TPX2_central_dom pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C - no_errors TPX2 HGNC ENSG00000088325 201 0 0 137 33 19.4118 SLC32A1 0 genome.wustl.edu 37 20 37356300 37356300 + Missense_Mutation SNP C C G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 20 37356300 37356300 C G SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.596 p.P199R 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 75 0 0 62 48 43.6364 SEMG1 0 genome.wustl.edu 37 20 43837007 43837007 + Nonsense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 20 43837007 43837007 C T SNP SEMG1 ENST00000372781 human ensembl 74_37 +1 known nonsense c.1069 p.R357* 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 109 0 0 42 21 33.3333 CSTF1 0 genome.wustl.edu 37 20 54972832 54972832 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 20 54972832 54972832 G A SNP CSTF1 ENST00000217109 human ensembl 74_37 +1 known missense c.580 p.D194N 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 CSTF1 HGNC ENSG00000101138 125 0 0 84 6 6.66667 FAM209B 0 genome.wustl.edu 37 20 55108530 55108530 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 20 55108530 55108530 C T SNP FAM209B ENST00000371325 human ensembl 74_37 +1 known missense c.133 p.R45W 0.071 NULL NULL - no_errors FAM209B HGNC ENSG00000213714 217 0 0 242 52 17.6871 CTSZ 0 genome.wustl.edu 37 20 57571768 57571768 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 20 57571768 57571768 C T SNP CTSZ ENST00000217131 human ensembl 74_37 -1 known missense c.727 p.V243I 0.060 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSZ HGNC ENSG00000101160 136 0 0 130 46 26.1364 ZNF831 0 genome.wustl.edu 37 20 57767395 57767395 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 20 57767395 57767395 G A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.1321 p.D441N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 47 0 0 33 36 52.1739 CDH4 0 genome.wustl.edu 37 20 60485495 60485495 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 20 60485495 60485495 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.1206 p.P402 0.014 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 53 0 0 87 18 17.1429 ABHD16B 0 genome.wustl.edu 37 20 62493709 62493709 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 20 62493709 62493709 C T SNP ABHD16B ENST00000369916 human ensembl 74_37 +1 known silent c.816 p.F272 0.984 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1 - no_errors ABHD16B HGNC ENSG00000183260 31 0 0 29 22 43.1373 LRRC3 0 genome.wustl.edu 37 21 45876920 45876920 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 21 45876920 45876920 C T SNP LRRC3 ENST00000291592 human ensembl 74_37 +1 known silent c.393 p.D131 0.353 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3 HGNC ENSG00000160233 101 0 0 61 4 6.15385 PI4KA 0 genome.wustl.edu 37 22 21083728 21083728 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 22 21083728 21083728 G T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.4555 p.Q1519K 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 38 0 0 32 3 8.57143 PLCXD2 0 genome.wustl.edu 37 3 111432935 111432935 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 3 111432935 111432935 C T SNP PLCXD2 ENST00000477665 human ensembl 74_37 +1 known missense c.826 p.R276W 0.999 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD2 HGNC ENSG00000240891 76 0 0 29 22 43.1373 CHST13 0 genome.wustl.edu 37 3 126261238 126261238 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 3 126261238 126261238 G A SNP CHST13 ENST00000319340 human ensembl 74_37 +1 known silent c.843 p.A281 0.708 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST13 HGNC ENSG00000180767 16 0 0 8 8 50 CLSTN2 0 genome.wustl.edu 37 3 140281655 140281655 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 3 140281655 140281655 G A SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.2215 p.V739M 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 106 0 0 35 24 40.678 MUC4 0 genome.wustl.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 3 195505836 195505836 G C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.12615 p.H4205Q 0.981 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 8 0 0 5 3 37.5 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 270 0 0 96 51 34.6939 SEMA3F 0 genome.wustl.edu 37 3 50224175 50224175 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 3 50224175 50224175 G A SNP SEMA3F ENST00000002829 human ensembl 74_37 +1 known missense c.1943 p.R648Q 0.992 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_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 30 0 0 23 4 14.8148 FLNB 0 genome.wustl.edu 37 3 58064475 58064475 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 3 58064475 58064475 G A SNP FLNB ENST00000295956 human ensembl 74_37 +1 known silent c.573 p.P191 0.000 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 FLNB HGNC ENSG00000136068 41 0 0 14 8 36.3636 CIDEC 0 genome.wustl.edu 37 3 9911862 9911862 + Missense_Mutation SNP G G C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 3 9911862 9911862 G C SNP CIDEC ENST00000336832 human ensembl 74_37 -1 known missense c.352 p.P118A 0.994 pfam_CIDE-N_dom,pfscan_CIDE-N_dom pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors CIDEC HGNC ENSG00000187288 173 1 0.574713 101 16 13.6752 EGF 0 genome.wustl.edu 37 4 110920947 110920947 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 4 110920947 110920947 G T SNP EGF ENST00000265171 human ensembl 74_37 +1 known missense c.3118 p.V1040L 0.362 pirsf_Pro-epidermal_GF pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 233 0 0 97 54 35.7616 ANK2 0 genome.wustl.edu 37 4 114254239 114254239 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 4 114254239 114254239 C T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.3254 p.A1085V 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 184 0 0 55 53 49.0741 ACOX3 0 genome.wustl.edu 37 4 8401309 8401309 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 4 8401309 8401309 C T SNP ACOX3 ENST00000356406 human ensembl 74_37 -1 known missense c.847 p.E283K 0.921 superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ENSG00000087008 124 0 0 61 17 21.7949 GRID2 0 genome.wustl.edu 37 4 93225854 93225854 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 4 93225854 93225854 G A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.47 p.R16Q 1.000 NULL 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 115 0 0 40 13 24.5283 DRD5 0 genome.wustl.edu 37 4 9783986 9783986 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 4 9783986 9783986 G A SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known silent c.333 p.A111 0.926 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,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_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 94 0 0 53 13 19.697 DMXL1 0 genome.wustl.edu 37 5 118533640 118533640 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 5 118533640 118533640 C T SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known silent c.7734 p.N2578 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 164 0 0 107 16 13.0081 ZNF474 0 genome.wustl.edu 37 5 121488536 121488536 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 5 121488536 121488536 T C SNP ZNF474 ENST00000296600 human ensembl 74_37 +1 known missense c.851 p.L284P 0.803 NULL pfscan_Znf_C2H2 - no_errors ZNF474 HGNC ENSG00000164185 78 0 0 70 14 16.6667 NEUROG1 0 genome.wustl.edu 37 5 134871035 134871035 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 5 134871035 134871035 G A SNP NEUROG1 ENST00000314744 human ensembl 74_37 -1 known missense c.346 p.R116C 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG1 HGNC ENSG00000181965 57 0 0 25 5 16.6667 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 201 1 0.49505 73 54 42.5197 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 199 0 0 67 75 52.8169 PCDHB3 0 genome.wustl.edu 37 5 140482078 140482078 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 5 140482078 140482078 C T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known silent c.1845 p.F615 0.992 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 PCDHB3 HGNC ENSG00000113205 210 0 0 169 12 6.62983 C1QTNF2 0 genome.wustl.edu 37 5 159776631 159776631 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 5 159776631 159776631 C A SNP C1QTNF2 ENST00000393975 human ensembl 74_37 -1 known missense c.537 p.E179D 0.595 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 244 0 0 239 42 14.9466 IRX1 0 genome.wustl.edu 37 5 3600242 3600242 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 5 3600242 3600242 G A SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.1180 p.V394I 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 86 0 0 21 43 67.1875 IL31RA 0 genome.wustl.edu 37 5 55203251 55203251 + Silent SNP C C G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 5 55203251 55203251 C G SNP IL31RA ENST00000447346 human ensembl 74_37 +1 known silent c.1317 p.G439 0.538 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 87 0 0 44 8 15.3846 IL6ST 0 genome.wustl.edu 37 5 55237554 55237554 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 5 55237554 55237554 G A SNP IL6ST ENST00000336909 human ensembl 74_37 -1 known missense c.2113 p.P705S 0.993 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 199 0 0 80 7 8.04598 VCAN 0 genome.wustl.edu 37 5 82836187 82836187 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 5 82836187 82836187 C A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.7365 p.S2455R 0.002 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 195 0 0 26 42 61.7647 VCAN 0 genome.wustl.edu 37 5 82836404 82836404 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 5 82836404 82836404 G A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.7582 p.E2528K 0.008 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 115 0 0 12 31 72.093 RNF182 0 genome.wustl.edu 37 6 13977379 13977379 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 6 13977379 13977379 C T SNP RNF182 ENST00000488300 human ensembl 74_37 +1 known missense c.29 p.A10V 0.003 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF182 HGNC ENSG00000180537 246 0 0 100 24 19.3548 SHPRH 0 genome.wustl.edu 37 6 146264757 146264757 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 6 146264757 146264757 C T SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.1760 p.G587E 0.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 195 1 0.510204 65 5 7.14286 SYNE1 0 genome.wustl.edu 37 6 152563500 152563500 + Nonsense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 6 152563500 152563500 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known nonsense c.19768 p.Q6590* 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 165 0 0 74 20 21.2766 MYCT1 0 genome.wustl.edu 37 6 153043291 153043291 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 6 153043291 153043291 G A SNP MYCT1 ENST00000367245 human ensembl 74_37 +1 known missense c.611 p.R204H 0.977 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 161 0 0 85 20 19.0476 FNDC1 0 genome.wustl.edu 37 6 159677562 159677562 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 6 159677562 159677562 G T SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.5073 p.L1691F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 230 0 0 70 20 22.2222 BTN1A1 0 genome.wustl.edu 37 6 26501921 26501921 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 6 26501921 26501921 G T SNP BTN1A1 ENST00000244513 human ensembl 74_37 +1 known missense c.183 p.L61F 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 86 0 0 58 5 7.93651 SCAND3 0 genome.wustl.edu 37 6 28543893 28543893 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 6 28543893 28543893 T C SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.589 p.M197V 1.000 NULL 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 75 0 0 20 6 23.0769 TNXB 0 genome.wustl.edu 37 6 32035603 32035603 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 6 32035603 32035603 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.6379 p.V2127M 0.473 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 130 0 0 77 17 18.0851 GRM4 0 genome.wustl.edu 37 6 34004261 34004261 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 6 34004261 34004261 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known silent c.1626 p.C542 0.842 pfam_GPCR_3_9-Cys_dom 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 77 0 0 33 39 54.1667 CD109 0 genome.wustl.edu 37 6 74475690 74475690 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 6 74475690 74475690 T C SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.1145 p.L382P 0.026 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 129 0 0 36 3 7.69231 TTK 0 genome.wustl.edu 37 6 80741243 80741243 + Silent SNP A A T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 6 80741243 80741243 A T SNP TTK ENST00000369798 human ensembl 74_37 +1 known silent c.1581 p.I527 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 TTK HGNC ENSG00000112742 141 0 0 27 3 10 PGM3 0 genome.wustl.edu 37 6 83892687 83892687 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 6 83892687 83892687 C A SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known missense c.468 p.L156F 0.993 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 91 0 0 33 24 42.1053 RELN 0 genome.wustl.edu 37 7 103234184 103234184 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 7 103234184 103234184 C A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.3857 p.R1286L 1.000 superfamily_Growth_fac_rcpt_N_dom 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 168 0 0 83 5 5.68182 SLC26A4 0 genome.wustl.edu 37 7 107334909 107334909 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 7 107334909 107334909 T C SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known missense c.1325 p.L442P 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 79 0 0 39 39 50 FLNC 0 genome.wustl.edu 37 7 128494556 128494556 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 7 128494556 128494556 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.6817 p.A2273T 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 18 0 0 16 16 50 ACTR3B 0 genome.wustl.edu 37 7 152550658 152550658 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 7 152550658 152550658 C T SNP ACTR3B ENST00000256001 human ensembl 74_37 +1 known missense c.1157 p.S386L 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR3B HGNC ENSG00000133627 47 0 0 41 3 6.81818 MACC1 0 genome.wustl.edu 37 7 20198700 20198700 + Missense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 7 20198700 20198700 G T SNP MACC1 ENST00000332878 human ensembl 74_37 -1 known missense c.1284 p.D428E 0.811 NULL pfam_SH3_2,superfamily_DEATH-like_dom - no_errors MACC1 HGNC ENSG00000183742 67 0 0 22 17 43.5897 DPY19L2P1 0 genome.wustl.edu 37 7 35131484 35131484 + RNA SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 7 35131484 35131484 G T SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 85 0 0 55 11 16.6667 NUDCD3 0 genome.wustl.edu 37 7 44425619 44425619 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 7 44425619 44425619 C T SNP NUDCD3 ENST00000355451 human ensembl 74_37 -1 known silent c.1077 p.V359 1.000 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD3 HGNC ENSG00000015676 94 0 0 92 24 20.6897 PSPH 0 genome.wustl.edu 37 7 56085002 56085002 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 7 56085002 56085002 C T SNP PSPH ENST00000275605 human ensembl 74_37 -1 known missense c.346 p.V116I 1.000 pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PSPH HGNC ENSG00000146733 92 0 0 66 6 8.33333 POM121 0 genome.wustl.edu 37 7 72418975 72418975 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 7 72418975 72418975 G A SNP POM121 ENST00000395270 human ensembl 74_37 +1 known missense c.2966 p.G989E 0.002 NULL NULL - no_errors POM121 HGNC ENSG00000196313 168 0 0 178 24 11.8812 MAGI2 0 genome.wustl.edu 37 7 77789454 77789454 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 7 77789454 77789454 G A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known silent c.2733 p.F911 0.900 superfamily_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 MAGI2 HGNC ENSG00000187391 91 0 0 65 25 27.7778 SEMA3C 0 genome.wustl.edu 37 7 80432050 80432050 + Missense_Mutation SNP A A C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 7 80432050 80432050 A C SNP SEMA3C ENST00000544525 human ensembl 74_37 -1 known missense c.901 p.F301V 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3C HGNC ENSG00000075223 121 0 0 70 22 23.913 GRHL2 0 genome.wustl.edu 37 8 102570941 102570941 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 8 102570941 102570941 C T SNP GRHL2 ENST00000251808 human ensembl 74_37 +1 known silent c.579 p.D193 0.499 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 73 0 0 112 27 19.4245 SYBU 0 genome.wustl.edu 37 8 110588230 110588230 + Silent SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 8 110588230 110588230 G T SNP SYBU ENST00000276646 human ensembl 74_37 -1 known silent c.897 p.I299 0.382 NULL NULL - no_errors SYBU HGNC ENSG00000147642 81 0 0 102 12 10.5263 ADCY8 0 genome.wustl.edu 37 8 131793086 131793086 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 8 131793086 131793086 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.3306 p.G1102 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 315 0 0 259 75 22.4551 TG 0 genome.wustl.edu 37 8 133882060 133882060 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 8 133882060 133882060 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.263 p.R88Q 0.416 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 77 0 0 92 19 17.1171 MAK16 0 genome.wustl.edu 37 8 33353133 33353133 + Missense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 8 33353133 33353133 C T SNP MAK16 ENST00000360128 human ensembl 74_37 +1 known missense c.521 p.T174M 1.000 pfam_Mak16,pirsf_Mak16 pfam_Mak16,pirsf_Mak16 - no_errors MAK16 HGNC ENSG00000198042 110 0 0 45 14 23.7288 SVEP1 0 genome.wustl.edu 37 9 113171166 113171166 + Silent SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 9 113171166 113171166 G A SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.6714 p.V2238 0.001 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 246 0 0 109 28 20.438 MUSK 0 genome.wustl.edu 37 9 113562732 113562732 + Missense_Mutation SNP C C G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 9 113562732 113562732 C G SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.2074 p.P692A 0.641 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 260 0 0 184 22 10.6796 COL27A1 0 genome.wustl.edu 37 9 117051000 117051000 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 9 117051000 117051000 G A SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.4063 p.G1355R 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 56 0 0 21 25 54.3478 PTGS1 0 genome.wustl.edu 37 9 125154794 125154794 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 9 125154794 125154794 G A SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known missense c.1771 p.A591T 0.000 pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 102 0 0 54 8 12.9032 LCN2 0 genome.wustl.edu 37 9 130911736 130911736 + RNA SNP G G C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 9 130911736 130911736 G C SNP LCN2 ENST00000470902 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LCN2 HGNC ENSG00000148346 222 0 0 127 25 16.4474 FCN1 0 genome.wustl.edu 37 9 137806261 137806261 + Nonsense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 9 137806261 137806261 G A SNP FCN1 ENST00000371806 human ensembl 74_37 -1 known nonsense c.277 p.R93* 0.048 pfam_Collagen pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN1 HGNC ENSG00000085265 98 0 0 47 28 37.3333 DOCK8 0 genome.wustl.edu 37 9 368030 368030 + Silent SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 9 368030 368030 T C SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known silent c.1692 p.Y564 0.997 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 82 0 0 27 2 6.89655 RANBP6 0 genome.wustl.edu 37 9 6015438 6015438 + Missense_Mutation SNP A A G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 9 6015438 6015438 A G SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.170 p.V57A 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 193 0 0 51 22 30.137 DMRT1 0 genome.wustl.edu 37 9 841979 841979 + Silent SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 9 841979 841979 C T SNP DMRT1 ENST00000382276 human ensembl 74_37 +1 known silent c.141 p.A47 0.021 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 23 0 0 10 3 23.0769 SPATA31D1 0 genome.wustl.edu 37 9 84606817 84606817 + Nonsense_Mutation SNP G G T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 9 84606817 84606817 G T SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known nonsense c.1432 p.E478* 0.001 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 97 0 0 35 3 7.89474 ANKRD19P 0 genome.wustl.edu 37 9 95599848 95599848 + RNA SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 9 95599848 95599848 C T SNP ANKRD19P ENST00000464387 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors ANKRD19P HGNC ENSG00000187984 69 0 0 27 3 10 XIAP 0 genome.wustl.edu 37 X 123020088 123020088 + Silent SNP A A G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 X 123020088 123020088 A G SNP XIAP ENST00000355640 human ensembl 74_37 +1 known silent c.576 p.T192 0.969 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors XIAP HGNC ENSG00000101966 91 0 0 39 3 7.14286 CXorf48 0 genome.wustl.edu 37 X 134294425 134294425 + Missense_Mutation SNP C C A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 X 134294425 134294425 C A SNP CXorf48 ENST00000276241 human ensembl 74_37 -1 known missense c.335 p.R112I 0.002 NULL superfamily_NA-bd_OB-fold - no_errors CXorf48 HGNC ENSG00000169551 26 0 0 2 12 85.7143 PDZD4 0 genome.wustl.edu 37 X 153072792 153072792 + Missense_Mutation SNP G G A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 X 153072792 153072792 G A SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known missense c.329 p.A110V 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 33 0 0 24 3 11.1111 MAGEB18 0 genome.wustl.edu 37 X 26158023 26158023 + Missense_Mutation SNP G G C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 X 26158023 26158023 G C SNP MAGEB18 ENST00000325250 human ensembl 74_37 +1 known missense c.921 p.L307F 0.076 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 22 0 0 5 17 77.2727 TRO 0 genome.wustl.edu 37 X 54950962 54950962 + Nonsense_Mutation SNP C C T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 X 54950962 54950962 C T SNP TRO ENST00000173898 human ensembl 74_37 +1 known nonsense c.1315 p.R439* 0.018 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 21 0 0 7 13 65 NAP1L2 0 genome.wustl.edu 37 X 72433043 72433043 + Missense_Mutation SNP T T C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 X 72433043 72433043 T C SNP NAP1L2 ENST00000373517 human ensembl 74_37 -1 known missense c.1286 p.Y429C 1.000 NULL pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 48 0 0 3 6 66.6667 RLIM 0 genome.wustl.edu 37 X 73811938 73811938 + Silent SNP G G C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 X 73811938 73811938 G C SNP RLIM ENST00000332687 human ensembl 74_37 -1 known silent c.1212 p.T404 0.879 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 65 0 0 57 4 6.55738 CAT 0 genome.wustl.edu 37 11 34490058 34490058 + RNA DEL A A - TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 11 34490058 34490058 A - DEL CAT ENST00000525707 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CAT HGNC ENSG00000121691 13 0 0 14 2 12.5 DNM1P51 0 genome.wustl.edu 37 15 84957480 84957499 + RNA DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 15 84957480 84957499 GGCCCCACATCCATTGAGAA - DEL DNM1P51 ENST00000558801 human ensembl 74_37 -1 known rna NULL NULL 0.404:0.401:0.398:0.395:0.392:0.390:0.387:0.385:0.382:0.380:0.378:0.376:0.374:0.372:0.370:0.368:0.366:0.365:0.363:0.362 - - - no_errors DNM1P51 HGNC ENSG00000235370 14 0 0 16 7 30.4348 ZFHX3 0 genome.wustl.edu 37 16 72821594 72821596 + In_Frame_Del DEL GCC GCC - TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 16 72821594 72821596 GCC - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known in_frame_del c.10581_10579 p.G3527in_frame_del 1.000:1.000:1.000 smart_Znf_U1 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 197 0 0 118 10 7.8125 NAPB 0 genome.wustl.edu 37 20 23370595 23370596 + Frame_Shift_Ins INS - - T TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 20 23370595 23370596 - T INS NAPB ENST00000377026 human ensembl 74_37 -1 known frame_shift_ins c.549_548 p.I184fs 1.000:1.000 prints_NSF_attach prints_NSF_attach - no_errors NAPB HGNC ENSG00000125814 252 0 0 124 52 29.5455 ZNF831 0 genome.wustl.edu 37 20 57769139 57769140 + Frame_Shift_Ins INS - - G TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 20 57769139 57769140 - G INS ZNF831 ENST00000371030 human ensembl 74_37 +1 novel frame_shift_ins c.3065_3066 p.D1025fs 0.000:0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 54 0 0 89 6 6.31579 CXCL3 0 genome.wustl.edu 37 4 74903165 74903166 + RNA INS - - TT TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 4 74903165 74903166 - TT INS CXCL3 ENST00000511669 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.001 - - - no_errors CXCL3 HGNC ENSG00000163734 9 0 0 16 2 11.1111 POU6F2 0 genome.wustl.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 7 39379288 39379290 CAG - DEL POU6F2 ENST00000403058 human ensembl 74_37 +1 known in_frame_del c.559_561 p.Q190in_frame_del 0.172:0.153:0.157 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 61 0 0 24 4 14.2857 PCMTD1 0 genome.wustl.edu 37 8 52732893 52732894 + RNA INS - - C TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 8 52732893 52732894 - C INS PCMTD1 ENST00000519559 human ensembl 74_37 -1 known rna NULL NULL 0.206:0.021 - - - no_errors PCMTD1 HGNC ENSG00000168300 26 0 0 6 2 25 IFNA16 0 genome.wustl.edu 37 9 21216966 21216967 + Frame_Shift_Ins INS - - A TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 9 21216966 21216967 - A INS IFNA16 ENST00000380216 human ensembl 74_37 -1 known frame_shift_ins c.339_338 p.Q114fs 0.000:0.000 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 IFNA16 HGNC ENSG00000147885 314 0 0 83 10 10.7527 CDKN2A 0 genome.wustl.edu 37 9 21974697 21974697 + Frame_Shift_Del DEL A A - TCGA-FP-8099-01A-11D-2340-08 TCGA-FP-8099-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c3586481-ed72-4767-9679-09051e29f925 7cf5b9a5-a93c-4956-bb53-40d2cfea4994 9 21974697 21974697 A - DEL CDKN2A ENST00000446177 human ensembl 74_37 -1 known frame_shift_del c.130 p.Y44fs 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 272 0 0 81 38 31.9328