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 AMY2A 0 genome.wustl.edu 37 1 104160230 104160230 + Missense_Mutation SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 104160230 104160230 G T SNP AMY2A ENST00000414303 human ensembl 74_37 +1 known missense c.168 p.Q56H 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2A HGNC ENSG00000243480 207 0 0 157 20 11.2994 VAV3 0 genome.wustl.edu 37 1 108115887 108115887 + RNA SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 108115887 108115887 C T SNP VAV3 ENST00000343258 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors VAV3 HGNC ENSG00000134215 20 0 0 19 4 17.3913 GSTM4 0 genome.wustl.edu 37 1 110200173 110200173 + Missense_Mutation SNP C C G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 110200173 110200173 C G SNP GSTM4 ENST00000369833 human ensembl 74_37 +1 known missense c.16 p.L6V 0.000 NULL pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM4 HGNC ENSG00000168765 148 0 0 122 25 17.0068 FAM212B 0 genome.wustl.edu 37 1 112269837 112269837 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 112269837 112269837 C T SNP FAM212B ENST00000357260 human ensembl 74_37 -1 known missense c.647 p.R216H 0.998 NULL NULL - no_errors FAM212B HGNC ENSG00000197852 105 1 0.943396 58 11 15.942 TCHH 0 genome.wustl.edu 37 1 152082181 152082181 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 152082181 152082181 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.3512 p.R1171H 0.058 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 68 0 0 74 11 12.9412 LCE2B 0 genome.wustl.edu 37 1 152659375 152659375 + Missense_Mutation SNP A A G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 152659375 152659375 A G SNP LCE2B ENST00000368780 human ensembl 74_37 +1 known missense c.56 p.K19R 0.986 NULL NULL - no_errors LCE2B HGNC ENSG00000159455 193 0 0 195 37 15.9483 IVL 0 genome.wustl.edu 37 1 152882720 152882720 + Missense_Mutation SNP A A T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 152882720 152882720 A T SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.447 p.K149N 0.003 NULL pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 51 0 0 44 9 16.9811 INSRR 0 genome.wustl.edu 37 1 156812986 156812986 + Missense_Mutation SNP A A T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 156812986 156812986 A T SNP INSRR ENST00000368195 human ensembl 74_37 -1 known missense c.2936 p.I979N 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 67 0 0 41 10 19.6078 FCRL1 0 genome.wustl.edu 37 1 157771938 157771938 + Missense_Mutation SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 157771938 157771938 T C SNP FCRL1 ENST00000368176 human ensembl 74_37 -1 known missense c.653 p.Q218R 0.029 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL1 HGNC ENSG00000163534 89 0 0 76 10 11.6279 CD1C 0 genome.wustl.edu 37 1 158262135 158262135 + Missense_Mutation SNP A A T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 158262135 158262135 A T SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.590 p.K197M 0.030 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 369 0 0 406 45 9.97783 EDEM3 0 genome.wustl.edu 37 1 184701990 184701990 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 184701990 184701990 C T SNP EDEM3 ENST00000318130 human ensembl 74_37 -1 known missense c.593 p.S198N 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 55 0 0 51 24 32 PIGR 0 genome.wustl.edu 37 1 207103709 207103709 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 207103709 207103709 G A SNP PIGR ENST00000356495 human ensembl 74_37 -1 known missense c.2249 p.S750F 0.716 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 55 0 0 66 11 14.2857 C4BPA 0 genome.wustl.edu 37 1 207300153 207300153 + Nonsense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 207300153 207300153 C T SNP C4BPA ENST00000367070 human ensembl 74_37 +1 known nonsense c.802 p.Q268* 0.368 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPA HGNC ENSG00000123838 92 0 0 79 16 16.8421 USH2A 0 genome.wustl.edu 37 1 216595587 216595587 + Missense_Mutation SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 216595587 216595587 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.92 p.T31N 0.464 NULL pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 65 0 0 80 13 13.9785 ACTA1 0 genome.wustl.edu 37 1 229568303 229568303 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 229568303 229568303 C T SNP ACTA1 ENST00000366684 human ensembl 74_37 -1 known missense c.454 p.G152S 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA1 HGNC ENSG00000143632 73 0 0 79 16 16.8421 RYR2 0 genome.wustl.edu 37 1 237713899 237713899 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 237713899 237713899 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.3116 p.R1039Q 0.995 pfam_Ryanodine_rcpt,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 16 0 0 13 3 18.75 NR0B2 0 genome.wustl.edu 37 1 27239982 27239982 + Silent SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 27239982 27239982 T C SNP NR0B2 ENST00000254227 human ensembl 74_37 -1 known silent c.450 p.Q150 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B2 HGNC ENSG00000131910 85 0 0 55 10 15.3846 C1orf172 0 genome.wustl.edu 37 1 27278473 27278473 + Silent SNP T T G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 27278473 27278473 T G SNP C1orf172 ENST00000320567 human ensembl 74_37 -1 known silent c.399 p.G133 0.083 NULL NULL - no_errors C1orf172 HGNC ENSG00000175707 64 0 0 36 8 18.1818 HIVEP3 0 genome.wustl.edu 37 1 42048532 42048532 + Missense_Mutation SNP T T G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 42048532 42048532 T G SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.1937 p.N646T 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 147 0 0 86 24 21.8182 HIVEP3 0 genome.wustl.edu 37 1 42048615 42048615 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 42048615 42048615 C T SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.1854 p.S618 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 124 1 0.8 71 35 33.0189 ZFYVE9 0 genome.wustl.edu 37 1 52811788 52811788 + Silent SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 52811788 52811788 T C SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known silent c.4173 p.D1391 0.942 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 118 0 0 85 33 27.9661 FGGY 0 genome.wustl.edu 37 1 60073568 60073568 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 60073568 60073568 G A SNP FGGY ENST00000303721 human ensembl 74_37 +1 known missense c.997 p.V333I 1.000 pfam_Carb_kinase_FGGY_C,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 54 0 0 34 11 24.4444 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74957907 74957907 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 74957907 74957907 G A SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.2650 p.E884K 1.000 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 151 0 0 78 26 25 SORCS3 0 genome.wustl.edu 37 10 106918738 106918738 + Missense_Mutation SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 10 106918738 106918738 T C SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.1718 p.L573P 0.998 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 25 0 0 37 6 13.9535 CUBN 0 genome.wustl.edu 37 10 17061967 17061967 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 10 17061967 17061967 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.4033 p.R1345W 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 65 0 0 61 11 15.2778 PLXDC2 0 genome.wustl.edu 37 10 20568723 20568723 + Missense_Mutation SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 10 20568723 20568723 G T SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known missense c.1565 p.G522V 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 61 0 0 72 11 13.253 BMS1 0 genome.wustl.edu 37 10 43318627 43318627 + Missense_Mutation SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 10 43318627 43318627 G T SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known missense c.3194 p.S1065I 1.000 pfam_BMS1_TSR1_C pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 105 1 0.943396 104 8 7.14286 CTNNA3 0 genome.wustl.edu 37 10 69366644 69366644 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 10 69366644 69366644 G A SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.263 p.T88M 0.299 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 80 0 0 69 16 18.8235 UNC5B 0 genome.wustl.edu 37 10 73050696 73050696 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 10 73050696 73050696 C T SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known missense c.1124 p.A375V 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 291 0 0 202 59 22.6054 UNC5B 0 genome.wustl.edu 37 10 73055697 73055697 + Missense_Mutation SNP A A G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 10 73055697 73055697 A G SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known missense c.2305 p.K769E 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 94 0 0 63 9 12.5 MAT1A 0 genome.wustl.edu 37 10 82045320 82045320 + Missense_Mutation SNP A A T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 10 82045320 82045320 A T SNP MAT1A ENST00000372213 human ensembl 74_37 -1 known missense c.117 p.D39E 0.469 pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT1A HGNC ENSG00000151224 59 0 0 57 7 10.9375 CDHR1 0 genome.wustl.edu 37 10 85968016 85968016 + Silent SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 10 85968016 85968016 G A SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known silent c.1050 p.P350 0.003 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 71 0 0 25 28 52.8302 MMP20 0 genome.wustl.edu 37 11 102482504 102482504 + Missense_Mutation SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 102482504 102482504 T C SNP MMP20 ENST00000260228 human ensembl 74_37 -1 known missense c.505 p.I169V 0.994 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A 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,prints_Pept_M10A - no_errors MMP20 HGNC ENSG00000137674 33 0 0 39 10 20.4082 ZBTB16 0 genome.wustl.edu 37 11 114118040 114118040 + Missense_Mutation SNP A A C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 114118040 114118040 A C SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.1745 p.K582T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 70 0 0 51 14 21.5385 C11orf63 0 genome.wustl.edu 37 11 122817312 122817312 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 122817312 122817312 G A SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.1741 p.V581M 0.995 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 51 0 0 42 9 17.6471 MRGPRX2 0 genome.wustl.edu 37 11 19077106 19077106 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 19077106 19077106 C T SNP MRGPRX2 ENST00000329773 human ensembl 74_37 -1 known missense c.844 p.V282M 0.128 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX2 HGNC ENSG00000183695 117 0 0 95 16 14.4144 DCDC1 0 genome.wustl.edu 37 11 31349783 31349783 + Missense_Mutation SNP C C G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 31349783 31349783 C G SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known missense c.45 p.Q15H 0.011 NULL pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 48 0 0 20 12 37.5 PDHX 0 genome.wustl.edu 37 11 34991726 34991726 + Missense_Mutation SNP T T A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 34991726 34991726 T A SNP PDHX ENST00000227868 human ensembl 74_37 +1 known missense c.857 p.V286D 1.000 pfam_2-oxoacid_DH_actylTfrase pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors PDHX HGNC ENSG00000110435 38 0 0 33 11 25 RAG2 0 genome.wustl.edu 37 11 36615566 36615566 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 36615566 36615566 C T SNP RAG2 ENST00000311485 human ensembl 74_37 -1 known silent c.153 p.K51 0.897 pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD - no_errors RAG2 HGNC ENSG00000175097 98 0 0 81 17 17.3469 LRP4 0 genome.wustl.edu 37 11 46911003 46911003 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 46911003 46911003 G A SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.2174 p.P725L 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 176 0 0 130 28 17.7215 ENSG00000255532 0 genome.wustl.edu 37 11 49401203 49401203 + RNA SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 49401203 49401203 C T SNP ENSG00000255532 ENST00000529081 human ensembl 74_37 +1 known rna NULL NULL 0.077 - - - no_errors CTD-2026G22.1 Clone_based_vega_gene ENSG00000255532 9 0 0 5 4 44.4444 OR52J3 0 genome.wustl.edu 37 11 5068262 5068262 + Silent SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 5068262 5068262 C A SNP OR52J3 ENST00000380370 human ensembl 74_37 +1 known silent c.507 p.P169 0.041 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52J3 HGNC ENSG00000205495 68 0 0 56 4 6.66667 OR4A16 0 genome.wustl.edu 37 11 55110693 55110693 + Missense_Mutation SNP A A T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 55110693 55110693 A T SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.17 p.N6I 0.743 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 34 0 0 30 3 9.09091 OR5AN1 0 genome.wustl.edu 37 11 59132682 59132682 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 59132682 59132682 C T SNP OR5AN1 ENST00000313940 human ensembl 74_37 +1 known missense c.751 p.L251F 0.178 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AN1 HGNC ENSG00000176495 127 0 0 92 18 16.3636 NPAS4 0 genome.wustl.edu 37 11 66188802 66188802 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 66188802 66188802 G A SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.152 p.R51H 1.000 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 120 0 0 83 22 20.9524 DCHS1 0 genome.wustl.edu 37 11 6653349 6653349 + Nonsense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 6653349 6653349 G A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known nonsense c.3394 p.R1132* 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 27 0 0 30 8 21.0526 KDM2A 0 genome.wustl.edu 37 11 66888764 66888764 + RNA SNP G G C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 66888764 66888764 G C SNP KDM2A ENST00000532436 human ensembl 74_37 +1 known rna NULL NULL 0.940 - - - no_errors KDM2A HGNC ENSG00000173120 39 0 0 21 8 27.5862 LRP5 0 genome.wustl.edu 37 11 68216312 68216312 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 68216312 68216312 C T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.4622 p.T1541M 0.993 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 81 0 0 75 11 12.7907 FOLH1B 0 genome.wustl.edu 37 11 89431659 89431659 + RNA SNP T T G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 89431659 89431659 T G SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 0.428 - - - no_errors FOLH1B HGNC ENSG00000134612 97 0 0 85 18 17.4757 RAD9B 0 genome.wustl.edu 37 12 110957714 110957714 + Nonsense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 12 110957714 110957714 C T SNP RAD9B ENST00000392672 human ensembl 74_37 +1 known nonsense c.883 p.R295* 0.000 pirsf_Rad9 pfam_Rad9/Ddc1,pirsf_Rad9 - no_errors RAD9B HGNC ENSG00000151164 24 0 0 16 3 15.7895 TAS2R42 0 genome.wustl.edu 37 12 11338850 11338850 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 12 11338850 11338850 C T SNP TAS2R42 ENST00000334266 human ensembl 74_37 -1 known missense c.694 p.A232T 0.412 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R42 HGNC ENSG00000186136 89 0 0 66 17 20.4819 SDS 0 genome.wustl.edu 37 12 113835138 113835138 + Missense_Mutation SNP G G C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 12 113835138 113835138 G C SNP SDS ENST00000257549 human ensembl 74_37 -1 known missense c.485 p.A162G 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDS HGNC ENSG00000135094 132 0 0 73 27 27 SLCO1B1 0 genome.wustl.edu 37 12 21325668 21325668 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 12 21325668 21325668 C T SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.169 p.R57W 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 42 0 0 25 9 26.4706 KRT3 0 genome.wustl.edu 37 12 53186105 53186105 + Missense_Mutation SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 12 53186105 53186105 C A SNP KRT3 ENST00000309505 human ensembl 74_37 -1 known missense c.1106 p.S369I 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 49 0 0 32 2 5.88235 CD63 0 genome.wustl.edu 37 12 56120536 56120536 + Missense_Mutation SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 12 56120536 56120536 T C SNP CD63 ENST00000257857 human ensembl 74_37 -1 known missense c.374 p.N125S 0.559 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD63 HGNC ENSG00000135404 122 0 0 65 27 29.3478 RBMS2 0 genome.wustl.edu 37 12 56956256 56956256 + Missense_Mutation SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 12 56956256 56956256 C A SNP RBMS2 ENST00000262031 human ensembl 74_37 +1 known missense c.122 p.P41H 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMS2 HGNC ENSG00000076067 86 0 0 45 22 32.8358 LRP1 0 genome.wustl.edu 37 12 57579489 57579489 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 12 57579489 57579489 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.6639 p.H2213 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 77 0 0 45 9 16.6667 B4GALNT3 0 genome.wustl.edu 37 12 653598 653598 + Missense_Mutation SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 12 653598 653598 C A SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known missense c.445 p.H149N 1.000 pfam_PA14,smart_PA14 pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 135 0 0 80 27 25.2336 PTPRB 0 genome.wustl.edu 37 12 71002847 71002847 + Splice_Site SNP A A G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 12 71002847 71002847 A G SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known splice_site c.979+2 e4+2 1.000 - - - no_errors PTPRB HGNC ENSG00000127329 97 0 0 54 11 16.9231 TMPO 0 genome.wustl.edu 37 12 98926907 98926907 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 12 98926907 98926907 G A SNP TMPO ENST00000266732 human ensembl 74_37 +1 known missense c.872 p.S291N 1.000 NULL pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 113 0 0 58 8 12.1212 FRY 0 genome.wustl.edu 37 13 32811731 32811731 + Missense_Mutation SNP G G C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 13 32811731 32811731 G C SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.6026 p.C2009S 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 38 0 0 26 9 25.7143 DCLK1 0 genome.wustl.edu 37 13 36700036 36700036 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 13 36700036 36700036 C T SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.239 p.R80Q 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 115 0 0 60 14 18.9189 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36767772 36767772 + Missense_Mutation SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 13 36767772 36767772 C A SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.647 p.C216F 0.302 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 50 0 0 37 7 15.9091 PCDH17 0 genome.wustl.edu 37 13 58209029 58209029 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 13 58209029 58209029 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.2349 p.M783I 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 55 0 0 30 6 16.6667 PCDH20 0 genome.wustl.edu 37 13 61985660 61985660 + Nonsense_Mutation SNP T T A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 13 61985660 61985660 T A SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known nonsense c.2572 p.R858* 1.000 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 71 0 0 26 14 35 POTEG 0 genome.wustl.edu 37 14 19553749 19553749 + Silent SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 14 19553749 19553749 G A SNP POTEG ENST00000409832 human ensembl 74_37 +1 known silent c.333 p.G111 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 722 0 0 488 38 7.22433 MYH7 0 genome.wustl.edu 37 14 23894051 23894051 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 14 23894051 23894051 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.2606 p.R869H 0.998 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 84 0 0 49 16 24.6154 PRKD1 0 genome.wustl.edu 37 14 30103745 30103745 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 14 30103745 30103745 G A SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.1193 p.P398L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 106 0 0 99 22 18.1818 RPL10L 0 genome.wustl.edu 37 14 47120431 47120431 + Missense_Mutation SNP T T G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 14 47120431 47120431 T G SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.509 p.K170T 1.000 superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 104 0 0 90 17 15.8879 ESRRB 0 genome.wustl.edu 37 14 76965244 76965244 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 14 76965244 76965244 C T SNP ESRRB ENST00000261532 human ensembl 74_37 +1 known missense c.1472 p.P491L 0.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRB HGNC ENSG00000119715 20 0 0 17 9 34.6154 SYNE3 0 genome.wustl.edu 37 14 95921749 95921749 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 14 95921749 95921749 C T SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.1102 p.E368K 0.960 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 60 0 0 36 7 16.2791 DNM1P47 0 genome.wustl.edu 37 15 102304733 102304733 + RNA SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 15 102304733 102304733 G T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 19 0 0 18 6 25 CHEK2P2 0 genome.wustl.edu 37 15 20496613 20496613 + RNA SNP A A C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 15 20496613 20496613 A C SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 0.691 - - - no_errors CHEK2P2 HGNC ENSG00000259156 91 0 0 79 5 5.95238 ATP8B4 0 genome.wustl.edu 37 15 50211119 50211119 + Missense_Mutation SNP T T G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 15 50211119 50211119 T G SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.1952 p.K651T 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 65 0 0 45 14 23.7288 ZNF609 0 genome.wustl.edu 37 15 64966687 64966687 + Missense_Mutation SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 15 64966687 64966687 T C SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known missense c.1634 p.L545P 0.353 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 111 0 0 73 25 25.5102 IGDCC3 0 genome.wustl.edu 37 15 65622985 65622985 + Silent SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 15 65622985 65622985 G T SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known silent c.1656 p.G552 0.008 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 68 0 0 40 13 24.5283 ADAMTS7 0 genome.wustl.edu 37 15 79058378 79058378 + Missense_Mutation SNP A A G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 15 79058378 79058378 A G SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known missense c.3875 p.L1292P 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 8 0 0 4 4 50 FAH 0 genome.wustl.edu 37 15 80465483 80465483 + Missense_Mutation SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 15 80465483 80465483 G T SNP FAH ENST00000261755 human ensembl 74_37 +1 known missense c.834 p.K278N 0.813 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 161 0 0 83 48 36.6412 TMC7 0 genome.wustl.edu 37 16 19020541 19020541 + Missense_Mutation SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 16 19020541 19020541 T C SNP TMC7 ENST00000304381 human ensembl 74_37 +1 known missense c.115 p.F39L 1.000 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 170 0 0 130 20 13.3333 KDM8 0 genome.wustl.edu 37 16 27232192 27232192 + RNA SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 16 27232192 27232192 G A SNP KDM8 ENST00000567785 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KDM8 HGNC ENSG00000155666 14 0 0 15 4 21.0526 CD19 0 genome.wustl.edu 37 16 28943926 28943926 + Silent SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 16 28943926 28943926 G A SNP CD19 ENST00000538922 human ensembl 74_37 +1 known silent c.348 p.E116 0.132 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD19 HGNC ENSG00000177455 15 0 0 17 5 22.7273 PDIA2 0 genome.wustl.edu 37 16 334907 334907 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 16 334907 334907 C T SNP PDIA2 ENST00000219406 human ensembl 74_37 +1 known silent c.570 p.F190 0.342 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase - no_errors PDIA2 HGNC ENSG00000185615 72 0 0 49 19 27.9412 SLC9A5 0 genome.wustl.edu 37 16 67286649 67286649 + Missense_Mutation SNP A A C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 16 67286649 67286649 A C SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known missense c.392 p.N131T 1.000 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 45 0 0 47 9 16.0714 FOXC2 0 genome.wustl.edu 37 16 86601967 86601967 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 16 86601967 86601967 C T SNP FOXC2 ENST00000320354 human ensembl 74_37 +1 known silent c.1026 p.A342 0.953 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC2 HGNC ENSG00000176692 10 0 0 6 6 50 LRRC37A11P 0 genome.wustl.edu 37 17 37188186 37188186 + RNA SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 17 37188186 37188186 C T SNP LRRC37A11P ENST00000425901 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC37A11P HGNC ENSG00000214553 130 0 0 94 24 20.339 KRT27 0 genome.wustl.edu 37 17 38935958 38935958 + Silent SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 17 38935958 38935958 G A SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known silent c.840 p.N280 0.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 35 0 0 36 7 16.2791 CCR10 0 genome.wustl.edu 37 17 40831755 40831755 + Missense_Mutation SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 17 40831755 40831755 C A SNP CCR10 ENST00000332438 human ensembl 74_37 -1 known missense c.905 p.R302L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR10,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CCR10 HGNC ENSG00000184451 37 0 0 24 2 7.69231 GPATCH8 0 genome.wustl.edu 37 17 42476351 42476351 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 17 42476351 42476351 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.3094 p.R1032C 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 55 0 0 43 17 28.3333 OSBPL7 0 genome.wustl.edu 37 17 45892625 45892625 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 17 45892625 45892625 C T SNP OSBPL7 ENST00000007414 human ensembl 74_37 -1 known missense c.1213 p.D405N 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL7 HGNC ENSG00000006025 38 0 0 21 8 27.5862 SCRN2 0 genome.wustl.edu 37 17 45915694 45915694 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 17 45915694 45915694 C T SNP SCRN2 ENST00000290216 human ensembl 74_37 -1 known missense c.1061 p.R354H 1.000 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC ENSG00000141295 136 0 0 72 23 24.2105 SPAG9 0 genome.wustl.edu 37 17 49091614 49091614 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 17 49091614 49091614 C T SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known missense c.1192 p.D398N 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 45 0 0 26 7 21.2121 SMURF2 0 genome.wustl.edu 37 17 62542381 62542381 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 17 62542381 62542381 C T SNP SMURF2 ENST00000262435 human ensembl 74_37 -1 known missense c.2147 p.C716Y 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF2 HGNC ENSG00000108854 51 0 0 55 7 11.2903 ENSG00000265015 0 genome.wustl.edu 37 18 15197707 15197707 + RNA SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 18 15197707 15197707 G A SNP ENSG00000265015 ENST00000581666 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-454P7.3 Clone_based_vega_gene ENSG00000265015 13 0 0 5 2 28.5714 TMX3 0 genome.wustl.edu 37 18 66378633 66378633 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 18 66378633 66378633 C T SNP TMX3 ENST00000299608 human ensembl 74_37 -1 known missense c.109 p.E37K 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TMX3 HGNC ENSG00000166479 53 0 0 25 13 34.2105 CNDP1 0 genome.wustl.edu 37 18 72228193 72228193 + Nonsense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 18 72228193 72228193 C T SNP CNDP1 ENST00000358821 human ensembl 74_37 +1 known nonsense c.406 p.Q136* 1.000 pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP1 HGNC ENSG00000150656 152 0 0 54 34 38.6364 ICAM1 0 genome.wustl.edu 37 19 10394179 10394179 + Silent SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 19 10394179 10394179 G A SNP ICAM1 ENST00000264832 human ensembl 74_37 +1 known silent c.354 p.L118 0.984 prints_ICAM_VCAM_N pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM1 HGNC ENSG00000090339 140 0 0 92 15 14.0187 CIRBP 0 genome.wustl.edu 37 19 1272346 1272346 + Silent SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 19 1272346 1272346 G A SNP CIRBP ENST00000444172 human ensembl 74_37 +1 known silent c.639 p.P213 0.002 NULL NULL - no_errors CIRBP HGNC ENSG00000099622 83 0 0 43 17 28.3333 ZFR2 0 genome.wustl.edu 37 19 3834822 3834822 + Silent SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 19 3834822 3834822 G T SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known silent c.213 p.G71 0.851 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 49 0 0 16 4 20 RYR1 0 genome.wustl.edu 37 19 38937121 38937121 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 19 38937121 38937121 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.641 p.T214M 0.994 pfam_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 69 0 0 60 38 38.7755 ZNF284 0 genome.wustl.edu 37 19 44590346 44590346 + Missense_Mutation SNP A A C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 19 44590346 44590346 A C SNP ZNF284 ENST00000421176 human ensembl 74_37 +1 known missense c.715 p.S239R 0.019 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF284 HGNC ENSG00000186026 90 0 0 174 17 8.90052 ZNF320 0 genome.wustl.edu 37 19 53384360 53384360 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 19 53384360 53384360 C T SNP ZNF320 ENST00000391781 human ensembl 74_37 -1 known missense c.1019 p.R340H 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF320 HGNC ENSG00000182986 120 0 0 77 117 60.3093 ZNF845 0 genome.wustl.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 19 53856761 53856761 T C SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.2833 p.C945R 0.612 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF845 HGNC ENSG00000213799 37 0 0 57 7 10.9375 PRKCG 0 genome.wustl.edu 37 19 54395881 54395881 + Missense_Mutation SNP G G C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 19 54395881 54395881 G C SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.805 p.A269P 0.684 superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 50 0 0 116 14 10.7692 PTPRH 0 genome.wustl.edu 37 19 55708067 55708067 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 19 55708067 55708067 C T SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known missense c.2080 p.E694K 0.029 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 83 0 0 167 9 5.11364 ZNF256 0 genome.wustl.edu 37 19 58452346 58452346 + Missense_Mutation SNP T T A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 19 58452346 58452346 T A SNP ZNF256 ENST00000282308 human ensembl 74_37 -1 known missense c.1830 p.K610N 0.167 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF256 HGNC ENSG00000152454 96 0 0 109 7 6.03448 PRAM1 0 genome.wustl.edu 37 19 8563996 8563996 + Missense_Mutation SNP C C G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 19 8563996 8563996 C G SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known missense c.696 p.Q232H 0.013 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 61 0 0 29 8 21.6216 C2orf49 0 genome.wustl.edu 37 2 105959540 105959540 + Missense_Mutation SNP A A G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 2 105959540 105959540 A G SNP C2orf49 ENST00000258457 human ensembl 74_37 +1 known missense c.502 p.N168D 0.975 NULL NULL - no_errors C2orf49 HGNC ENSG00000135974 121 1 0.819672 119 21 15 GPR39 0 genome.wustl.edu 37 2 133175221 133175221 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 2 133175221 133175221 C T SNP GPR39 ENST00000329321 human ensembl 74_37 +1 known silent c.606 p.P202 0.036 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 93 0 0 87 15 14.7059 GALNT13 0 genome.wustl.edu 37 2 155102467 155102467 + Silent SNP A A C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 2 155102467 155102467 A C SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known silent c.829 p.R277 0.998 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 50 0 0 29 9 23.6842 SCN3A 0 genome.wustl.edu 37 2 165947600 165947600 + Missense_Mutation SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 2 165947600 165947600 T C SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.5063 p.D1688G 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 173 0 0 149 121 44.8148 SCN2A 0 genome.wustl.edu 37 2 166172072 166172072 + Missense_Mutation SNP A A C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 2 166172072 166172072 A C SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.1475 p.K492T 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 46 0 0 66 10 13.1579 XIRP2 0 genome.wustl.edu 37 2 168115033 168115033 + Missense_Mutation SNP T T G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 2 168115033 168115033 T G SNP XIRP2 ENST00000420519 human ensembl 74_37 +1 known missense c.2076 p.N692K 0.860 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 30 0 0 34 3 8.10811 TTN 0 genome.wustl.edu 37 2 179594952 179594952 + Missense_Mutation SNP A A G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 2 179594952 179594952 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.14443 p.S4815P 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 25 0 0 31 8 20.5128 TTN 0 genome.wustl.edu 37 2 179611639 179611639 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 2 179611639 179611639 C T SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.15488 p.R5163H 0.808 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 101 0 0 111 9 7.5 FSIP2 0 genome.wustl.edu 37 2 186672103 186672103 + Missense_Mutation SNP A A C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 2 186672103 186672103 A C SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.18337 p.I6113L 1.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 87 0 0 73 38 34.2342 ZNF142 0 genome.wustl.edu 37 2 219509670 219509670 + Silent SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 2 219509670 219509670 C A SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known silent c.1569 p.R523 0.768 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 100 0 0 65 16 19.7531 ATAD2B 0 genome.wustl.edu 37 2 24005831 24005831 + Missense_Mutation SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 2 24005831 24005831 T C SNP ATAD2B ENST00000238789 human ensembl 74_37 -1 known missense c.3041 p.K1014R 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 23 0 0 21 6 22.2222 NRXN1 0 genome.wustl.edu 37 2 51254789 51254789 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 2 51254789 51254789 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.623 p.P208L 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 24 0 0 16 6 27.2727 LRRTM4 0 genome.wustl.edu 37 2 77746756 77746756 + Missense_Mutation SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 2 77746756 77746756 T C SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.242 p.Q81R 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 77 0 0 66 10 13.1579 DZANK1 0 genome.wustl.edu 37 20 18414372 18414372 + Missense_Mutation SNP A A G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 20 18414372 18414372 A G SNP DZANK1 ENST00000262547 human ensembl 74_37 -1 known missense c.785 p.M262T 0.999 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 72 0 0 79 16 16.8421 FOXA2 0 genome.wustl.edu 37 20 22564868 22564868 + Nonsense_Mutation SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 20 22564868 22564868 C A SNP FOXA2 ENST00000419308 human ensembl 74_37 -1 known nonsense c.49 p.E17* 1.000 NULL pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA2 HGNC ENSG00000125798 72 0 0 67 23 25.5556 TMC2 0 genome.wustl.edu 37 20 2604963 2604963 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 20 2604963 2604963 G A SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.2227 p.D743N 1.000 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 91 0 0 101 29 22.3077 BPIFB1 0 genome.wustl.edu 37 20 31890858 31890858 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 20 31890858 31890858 G A SNP BPIFB1 ENST00000253354 human ensembl 74_37 +1 known missense c.1118 p.R373H 0.025 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 124 0 0 121 17 12.3188 SGK2 0 genome.wustl.edu 37 20 42196350 42196350 + Silent SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 20 42196350 42196350 G A SNP SGK2 ENST00000341458 human ensembl 74_37 +1 known silent c.312 p.G104 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK2 HGNC ENSG00000101049 92 0 0 91 17 15.7407 JPH2 0 genome.wustl.edu 37 20 42788598 42788598 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 20 42788598 42788598 C T SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.829 p.A277T 0.064 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 29 0 0 20 4 16.6667 SLC12A5 0 genome.wustl.edu 37 20 44681717 44681717 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 20 44681717 44681717 C T SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known silent c.2568 p.H856 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 73 0 0 53 30 36.1446 DOK5 0 genome.wustl.edu 37 20 53208299 53208299 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 20 53208299 53208299 G A SNP DOK5 ENST00000262593 human ensembl 74_37 +1 known missense c.554 p.R185Q 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK5 HGNC ENSG00000101134 82 0 0 92 19 17.1171 MC3R 0 genome.wustl.edu 37 20 54824725 54824725 + Missense_Mutation SNP T T A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 20 54824725 54824725 T A SNP MC3R ENST00000243911 human ensembl 74_37 +1 known missense c.826 p.C276S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 198 0 0 186 29 13.4884 PAK7 0 genome.wustl.edu 37 20 9546762 9546762 + Silent SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 20 9546762 9546762 G T SNP PAK7 ENST00000353224 human ensembl 74_37 -1 known silent c.1260 p.S420 0.991 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK7 HGNC ENSG00000101349 84 0 0 63 22 25.8824 CACNG2 0 genome.wustl.edu 37 22 36960645 36960645 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 22 36960645 36960645 C T SNP CACNG2 ENST00000300105 human ensembl 74_37 -1 known missense c.725 p.R242H 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g2su,prints_Claudin - no_errors CACNG2 HGNC ENSG00000166862 196 0 0 195 32 14.0969 STXBP5L 0 genome.wustl.edu 37 3 120973864 120973864 + Missense_Mutation SNP T T A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 3 120973864 120973864 T A SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.1564 p.W522R 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 42 0 0 32 9 21.9512 SYN2 0 genome.wustl.edu 37 3 12182165 12182165 + RNA SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 3 12182165 12182165 G A SNP SYN2 ENST00000424884 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SYN2 HGNC ENSG00000157152 13 0 0 11 5 31.25 CHST13 0 genome.wustl.edu 37 3 126260803 126260803 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 3 126260803 126260803 C T SNP CHST13 ENST00000319340 human ensembl 74_37 +1 known silent c.408 p.R136 0.937 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST13 HGNC ENSG00000180767 29 0 0 14 4 22.2222 EEFSEC 0 genome.wustl.edu 37 3 127983559 127983559 + Missense_Mutation SNP A A G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 3 127983559 127983559 A G SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.721 p.M241V 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 113 0 0 90 51 36.1702 IFT122 0 genome.wustl.edu 37 3 129180108 129180108 + Missense_Mutation SNP A A G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 3 129180108 129180108 A G SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.463 p.I155V 0.800 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 49 0 0 38 15 28.3019 TOPBP1 0 genome.wustl.edu 37 3 133339033 133339033 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 3 133339033 133339033 G A SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.3337 p.R1113C 1.000 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 33 0 0 24 12 33.3333 TOPBP1 0 genome.wustl.edu 37 3 133372361 133372361 + Missense_Mutation SNP C C G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 3 133372361 133372361 C G SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.750 p.K250N 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 21 0 0 18 3 14.2857 SI 0 genome.wustl.edu 37 3 164764797 164764797 + Silent SNP A A G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 3 164764797 164764797 A G SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.1719 p.A573 0.664 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 24 0 0 22 8 26.6667 SPATA16 0 genome.wustl.edu 37 3 172642045 172642045 + Missense_Mutation SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 3 172642045 172642045 T C SNP SPATA16 ENST00000351008 human ensembl 74_37 -1 known missense c.1291 p.K431E 1.000 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 62 0 0 50 12 19.3548 ATP13A5 0 genome.wustl.edu 37 3 193081105 193081105 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 3 193081105 193081105 C T SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known missense c.304 p.V102I 0.948 pfam_ATPase_P-typ_Cation_typ_V,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 64 0 0 46 21 31.3433 SCN11A 0 genome.wustl.edu 37 3 38950622 38950622 + Missense_Mutation SNP A A C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 3 38950622 38950622 A C SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.1165 p.F389V 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 171 0 0 141 26 15.5689 CACNA2D2 0 genome.wustl.edu 37 3 50405113 50405113 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 3 50405113 50405113 C T SNP CACNA2D2 ENST00000435965 human ensembl 74_37 -1 known missense c.2278 p.A760T 0.999 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 67 0 0 47 5 9.61538 DNAH12 0 genome.wustl.edu 37 3 57494188 57494188 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 3 57494188 57494188 G A SNP DNAH12 ENST00000351747 human ensembl 74_37 -1 known missense c.622 p.H208Y 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 36 0 0 26 12 31.5789 EPHA6 0 genome.wustl.edu 37 3 96533679 96533679 + Missense_Mutation SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 3 96533679 96533679 C A SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.212 p.P71H 0.001 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 15 0 0 18 3 14.2857 ADH1B 0 genome.wustl.edu 37 4 100237383 100237383 + Silent SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 4 100237383 100237383 G A SNP ADH1B ENST00000305046 human ensembl 74_37 -1 known silent c.336 p.C112 0.032 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1B HGNC ENSG00000196616 72 0 0 34 6 15 FAT4 0 genome.wustl.edu 37 4 126397386 126397386 + Missense_Mutation SNP A A C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 4 126397386 126397386 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.12268 p.S4090R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 98 0 0 66 11 14.2857 PCDH7 0 genome.wustl.edu 37 4 30723907 30723907 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 4 30723907 30723907 G A SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.863 p.R288H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 27 0 0 15 3 16.6667 KLF3 0 genome.wustl.edu 37 4 38698837 38698837 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 4 38698837 38698837 C T SNP KLF3 ENST00000261438 human ensembl 74_37 +1 known missense c.991 p.R331C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 190 0 0 80 79 49.6855 LPHN3 0 genome.wustl.edu 37 4 62452949 62452949 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 4 62452949 62452949 C T SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known silent c.264 p.F88 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 16 0 0 11 5 31.25 TMPRSS11E 0 genome.wustl.edu 37 4 69337188 69337188 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 4 69337188 69337188 C T SNP TMPRSS11E ENST00000305363 human ensembl 74_37 +1 known missense c.337 p.H113Y 0.019 pfam_SEA_dom,pirsf_Pept_S1A_HAT/DESC1 pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11E HGNC ENSG00000087128 177 0 0 148 9 5.73248 UGT2A3 0 genome.wustl.edu 37 4 69817169 69817169 + Missense_Mutation SNP A A C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 4 69817169 69817169 A C SNP UGT2A3 ENST00000251566 human ensembl 74_37 -1 known missense c.310 p.W104G 0.010 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC ENSG00000135220 39 0 0 28 7 20 GK2 0 genome.wustl.edu 37 4 80329230 80329230 + Missense_Mutation SNP T T G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 4 80329230 80329230 T G SNP GK2 ENST00000358842 human ensembl 74_37 -1 known missense c.125 p.E42A 1.000 pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 86 0 0 55 16 22.5352 ST8SIA4 0 genome.wustl.edu 37 5 100192077 100192077 + Missense_Mutation SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 5 100192077 100192077 T C SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known missense c.527 p.E176G 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 53 0 0 28 7 20 DNAH5 0 genome.wustl.edu 37 5 13766258 13766258 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 5 13766258 13766258 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.9928 p.R3310C 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 146 0 0 104 21 16.8 DNAH5 0 genome.wustl.edu 37 5 13841082 13841082 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 5 13841082 13841082 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.5642 p.T1881M 0.214 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 71 0 0 67 8 10.6667 PCDHA10 0 genome.wustl.edu 37 5 140236968 140236968 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 5 140236968 140236968 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known silent c.1335 p.A445 0.477 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 324 0 0 176 50 22.1239 ENSG00000249034 0 genome.wustl.edu 37 5 140242817 140242817 + Silent SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 5 140242817 140242817 G A SNP ENSG00000249034 ENST00000502505 human ensembl 74_37 -1 known silent c.159 p.R53 0.001 NULL NULL - no_errors AC005609.1 Clone_based_ensembl_gene ENSG00000249034 86 0 0 52 16 23.5294 PCDHB8 0 genome.wustl.edu 37 5 140559623 140559623 + Missense_Mutation SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 5 140559623 140559623 C A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.2008 p.P670T 0.968 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 132 0 0 92 29 23.9669 PCDHB14 0 genome.wustl.edu 37 5 140604640 140604640 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 5 140604640 140604640 C T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known silent c.1563 p.Y521 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 287 1 0.347222 164 47 22.2749 PCYOX1L 0 genome.wustl.edu 37 5 148745521 148745521 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 5 148745521 148745521 G A SNP PCYOX1L ENST00000274569 human ensembl 74_37 +1 known missense c.487 p.A163T 1.000 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1L HGNC ENSG00000145882 67 0 0 42 10 19.2308 HAVCR1 0 genome.wustl.edu 37 5 156482248 156482248 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 5 156482248 156482248 C T SNP HAVCR1 ENST00000425854 human ensembl 74_37 -1 known missense c.343 p.D115N 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR1 HGNC ENSG00000113249 75 0 0 77 8 9.41176 GABRG2 0 genome.wustl.edu 37 5 161520906 161520906 + Missense_Mutation SNP A A C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 5 161520906 161520906 A C SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known missense c.180 p.K60N 1.000 prints_GABBAg_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 67 0 0 63 24 27.5862 KCNIP1 0 genome.wustl.edu 37 5 169931586 169931586 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 5 169931586 169931586 G A SNP KCNIP1 ENST00000411494 human ensembl 74_37 +1 known missense c.10 p.V4I 1.000 NULL pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP1 HGNC ENSG00000182132 105 0 0 58 32 35.5556 RGS7BP 0 genome.wustl.edu 37 5 63871703 63871703 + Silent SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 5 63871703 63871703 G T SNP RGS7BP ENST00000334025 human ensembl 74_37 +1 known silent c.435 p.L145 1.000 NULL NULL - no_errors RGS7BP HGNC ENSG00000186479 58 0 0 52 10 16.129 ELL2 0 genome.wustl.edu 37 5 95278738 95278738 + Nonsense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 5 95278738 95278738 G A SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known nonsense c.163 p.R55* 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 35 0 0 16 9 36 FAM174A 0 genome.wustl.edu 37 5 99871318 99871318 + Silent SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 5 99871318 99871318 G T SNP FAM174A ENST00000312637 human ensembl 74_37 +1 known silent c.84 p.G28 0.786 pfam_DUF1180 pfam_DUF1180 - no_errors FAM174A HGNC ENSG00000174132 93 0 0 69 16 18.8235 FAM184A 0 genome.wustl.edu 37 6 119345138 119345138 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 6 119345138 119345138 C T SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.1000 p.E334K 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 80 0 0 58 11 15.942 GRM1 0 genome.wustl.edu 37 6 146720482 146720482 + Nonsense_Mutation SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 6 146720482 146720482 C A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known nonsense c.2307 p.Y769* 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 136 0 0 80 22 21.5686 SYNJ2 0 genome.wustl.edu 37 6 158487596 158487596 + Missense_Mutation SNP T T C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 6 158487596 158487596 T C SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.1646 p.V549A 0.754 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 160 0 0 111 28 20.1439 EHMT2 0 genome.wustl.edu 37 6 31852190 31852190 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 6 31852190 31852190 C T SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known missense c.2921 p.R974H 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 86 0 0 47 13 21.6667 VPS52 0 genome.wustl.edu 37 6 33231568 33231568 + Missense_Mutation SNP A A G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 6 33231568 33231568 A G SNP VPS52 ENST00000445902 human ensembl 74_37 -1 known missense c.1709 p.M570T 1.000 pfam_Vps52 pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 - no_errors VPS52 HGNC ENSG00000223501 86 0 0 59 21 26.25 LHFPL5 0 genome.wustl.edu 37 6 35773558 35773558 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 6 35773558 35773558 C T SNP LHFPL5 ENST00000360215 human ensembl 74_37 +1 known silent c.111 p.S37 0.003 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC ENSG00000197753 238 0 0 157 40 20.3046 FAM83B 0 genome.wustl.edu 37 6 54806758 54806758 + Nonsense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 6 54806758 54806758 C T SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known nonsense c.2989 p.R997* 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 55 0 0 26 12 31.5789 RAB23 0 genome.wustl.edu 37 6 57075034 57075034 + Nonsense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 6 57075034 57075034 G A SNP RAB23 ENST00000317483 human ensembl 74_37 -1 known nonsense c.145 p.R49* 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB23 HGNC ENSG00000112210 47 0 0 26 6 18.75 ZAN 0 genome.wustl.edu 37 7 100364791 100364791 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 7 100364791 100364791 G A SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.4771 p.G1591R 0.034 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 81 0 0 107 12 10.084 ENSG00000225946 0 genome.wustl.edu 37 7 100608712 100608712 + RNA SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 7 100608712 100608712 C A SNP ENSG00000225946 ENST00000420080 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 87 0 0 90 30 25 CADPS2 0 genome.wustl.edu 37 7 122028700 122028700 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 7 122028700 122028700 G A SNP CADPS2 ENST00000449022 human ensembl 74_37 -1 known missense c.3101 p.A1034V 1.000 NULL pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 28 0 0 25 3 10.7143 SND1 0 genome.wustl.edu 37 7 127334768 127334768 + RNA SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 7 127334768 127334768 G T SNP SND1 ENST00000492772 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SND1 HGNC ENSG00000197157 38 0 0 19 7 26.9231 MTPN 0 genome.wustl.edu 37 7 135614721 135614721 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 7 135614721 135614721 C T SNP MTPN ENST00000393085 human ensembl 74_37 -1 known missense c.310 p.A104T 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors MTPN HGNC ENSG00000105887 111 0 0 74 19 20.4301 PRSS58 0 genome.wustl.edu 37 7 141955044 141955044 + Missense_Mutation SNP A A T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 7 141955044 141955044 A T SNP PRSS58 ENST00000547058 human ensembl 74_37 -1 known missense c.267 p.H89Q 0.025 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS58 HGNC ENSG00000258223 109 0 0 39 21 35 OR2A42 0 genome.wustl.edu 37 7 143929571 143929571 + Silent SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 7 143929571 143929571 G A SNP OR2A42 ENST00000391496 human ensembl 74_37 -1 known silent c.366 p.Y122 0.969 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2A42 HGNC ENSG00000212807 47 0 0 31 7 18.4211 CNTNAP2 0 genome.wustl.edu 37 7 146997356 146997356 + Missense_Mutation SNP A A C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 7 146997356 146997356 A C SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1472 p.K491T 0.918 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 61 0 0 26 7 21.2121 ZBED6CL 0 genome.wustl.edu 37 7 150027913 150027913 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 7 150027913 150027913 C T SNP ZBED6CL ENST00000343855 human ensembl 74_37 +1 known silent c.420 p.S140 0.000 NULL NULL - no_errors ZBED6CL HGNC ENSG00000188707 65 0 0 28 9 24.3243 RUNDC3B 0 genome.wustl.edu 37 7 87329821 87329821 + Missense_Mutation SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 7 87329821 87329821 G T SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.374 p.C125F 1.000 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 60 0 0 92 13 12.381 ZNF804B 0 genome.wustl.edu 37 7 88956701 88956701 + Missense_Mutation SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 7 88956701 88956701 C A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.293 p.A98D 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 52 0 0 99 13 11.6071 ZNF804B 0 genome.wustl.edu 37 7 88965059 88965059 + Silent SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 7 88965059 88965059 C A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known silent c.2763 p.T921 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 169 0 0 259 28 9.7561 SAMD9L 0 genome.wustl.edu 37 7 92761613 92761613 + Silent SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 7 92761613 92761613 G T SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known silent c.3672 p.S1224 0.000 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 87 0 0 85 12 12.3711 BET1 0 genome.wustl.edu 37 7 93623678 93623678 + Missense_Mutation SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 7 93623678 93623678 G T SNP BET1 ENST00000357520 human ensembl 74_37 -1 known missense c.221 p.T74K 1.000 pfam_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors BET1 HGNC ENSG00000105829 26 0 0 16 12 42.8571 LRP12 0 genome.wustl.edu 37 8 105509670 105509670 + Missense_Mutation SNP T T G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 8 105509670 105509670 T G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1053 p.Q351H 0.995 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 68 0 0 83 20 19.4175 SYBU 0 genome.wustl.edu 37 8 110587148 110587148 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 8 110587148 110587148 C T SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.1979 p.R660H 0.533 NULL NULL - no_errors SYBU HGNC ENSG00000147642 124 1 0.8 88 19 17.757 CSMD3 0 genome.wustl.edu 37 8 113293418 113293418 + Missense_Mutation SNP A A T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 8 113293418 113293418 A T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9493 p.L3165I 0.998 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 53 0 0 34 11 24.4444 ADCY8 0 genome.wustl.edu 37 8 132002740 132002740 + Missense_Mutation SNP A A G TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 8 132002740 132002740 A G SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.1009 p.F337L 1.000 NULL 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 248 0 0 201 48 19.2771 RPL23AP53 0 genome.wustl.edu 37 8 163527 163527 + RNA SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 8 163527 163527 C T SNP RPL23AP53 ENST00000606975 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL23AP53 HGNC ENSG00000223508 65 0 0 54 8 12.9032 REEP4 0 genome.wustl.edu 37 8 21996454 21996454 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 8 21996454 21996454 G A SNP REEP4 ENST00000306306 human ensembl 74_37 -1 known missense c.538 p.R180W 0.900 NULL pfam_TB2_DP1_HVA22 - no_errors REEP4 HGNC ENSG00000168476 38 0 0 30 10 25 LEPROTL1 0 genome.wustl.edu 37 8 29963316 29963316 + Missense_Mutation SNP A A T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 8 29963316 29963316 A T SNP LEPROTL1 ENST00000321250 human ensembl 74_37 +1 known missense c.334 p.T112S 1.000 pfam_VPS55 pfam_VPS55 - no_errors LEPROTL1 HGNC ENSG00000104660 92 0 0 63 25 28.4091 FGFR1 0 genome.wustl.edu 37 8 38271510 38271510 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 8 38271510 38271510 C T SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.2311 p.V771M 0.989 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 56 0 0 39 9 18.75 TRPA1 0 genome.wustl.edu 37 8 72966069 72966069 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 8 72966069 72966069 C T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.1563 p.A521 0.834 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 22 0 0 16 4 20 GDF6 0 genome.wustl.edu 37 8 97157137 97157137 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 8 97157137 97157137 C T SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.1022 p.R341H 0.999 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 29 0 0 26 4 13.3333 SVEP1 0 genome.wustl.edu 37 9 113196685 113196685 + Missense_Mutation SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 9 113196685 113196685 G T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.4990 p.L1664M 1.000 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 36 0 0 22 7 24.1379 SLC46A2 0 genome.wustl.edu 37 9 115652545 115652545 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 9 115652545 115652545 C T SNP SLC46A2 ENST00000374228 human ensembl 74_37 -1 known silent c.417 p.A139 0.081 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC ENSG00000119457 68 0 0 48 17 26.1538 ASTN2 0 genome.wustl.edu 37 9 120176865 120176865 + Missense_Mutation SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 9 120176865 120176865 G T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.352 p.R118S 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 39 0 0 29 10 25.641 FOCAD 0 genome.wustl.edu 37 9 20988425 20988425 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 9 20988425 20988425 C T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known silent c.5001 p.D1667 0.164 pfam_DUF3028 pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 34 0 0 32 15 31.9149 C9orf72 0 genome.wustl.edu 37 9 27566905 27566905 + Missense_Mutation SNP G G C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 9 27566905 27566905 G C SNP C9orf72 ENST00000380003 human ensembl 74_37 -1 known missense c.214 p.L72V 1.000 NULL NULL - no_errors C9orf72 HGNC ENSG00000147894 51 0 0 75 6 7.40741 LOC100996870 0 genome.wustl.edu 37 9 66457330 66457330 + RNA SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 9 66457330 66457330 G T SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.200 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 13 0 0 5 3 37.5 TRPM6 0 genome.wustl.edu 37 9 77411801 77411801 + Silent SNP T T A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 9 77411801 77411801 T A SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known silent c.2247 p.I749 0.971 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 61 0 0 44 9 16.9811 TRPM6 0 genome.wustl.edu 37 9 77427319 77427319 + Missense_Mutation SNP C C A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 9 77427319 77427319 C A SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.1339 p.A447S 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 81 0 0 49 12 19.6721 SPATA31D5P 0 genome.wustl.edu 37 9 84531732 84531732 + RNA SNP T T A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 9 84531732 84531732 T A SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 70 0 0 51 13 20.3125 COL4A5 0 genome.wustl.edu 37 X 107838773 107838773 + Silent SNP A A C TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 X 107838773 107838773 A C SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known silent c.1458 p.G486 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 106 0 0 69 25 26.5957 DCAF12L2 0 genome.wustl.edu 37 X 125299816 125299816 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 X 125299816 125299816 G A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.92 p.A31V 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 41 0 0 23 4 14.8148 ARHGAP36 0 genome.wustl.edu 37 X 130219891 130219891 + Missense_Mutation SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 X 130219891 130219891 C T SNP ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known missense c.1109 p.P370L 0.936 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 303 0 0 180 65 26.5306 RENBP 0 genome.wustl.edu 37 X 153208373 153208373 + Silent SNP C C T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 X 153208373 153208373 C T SNP RENBP ENST00000393700 human ensembl 74_37 -1 known silent c.621 p.E207 0.004 pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like - no_errors RENBP HGNC ENSG00000102032 261 0 0 143 40 21.8579 ARX 0 genome.wustl.edu 37 X 25033778 25033778 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 X 25033778 25033778 G A SNP ARX ENST00000379044 human ensembl 74_37 -1 known missense c.77 p.S26F 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_Antifreeze_1 - no_errors ARX HGNC ENSG00000004848 23 0 0 12 6 33.3333 COX7B 0 genome.wustl.edu 37 X 77158139 77158139 + Splice_Site SNP G G T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 X 77158139 77158139 G T SNP COX7B ENST00000481445 human ensembl 74_37 +1 known splice_site c.41-1 e2-1 1.000 - - - no_errors COX7B HGNC ENSG00000131174 53 0 0 28 10 26.3158 PCDH11X 0 genome.wustl.edu 37 X 91873460 91873460 + Missense_Mutation SNP G G A TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 X 91873460 91873460 G A SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.3565 p.V1189M 0.031 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 246 0 0 147 36 19.6721 SEC22B 0 genome.wustl.edu 37 1 145115806 145115807 + RNA INS - - T TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 1 145115806 145115807 - T INS SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors SEC22B HGNC ENSG00000223380 138 0 0 199 12 5.6872 MUC2 0 genome.wustl.edu 37 11 1090952 1090954 + In_Frame_Del DEL ACC ACC - TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 ACC ACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 11 1090952 1090954 ACC - DEL MUC2 ENST00000441003 human ensembl 74_37 +1 known in_frame_del c.3847_3849 p.T1286in_frame_del 0.000:0.003:0.016 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 24 0 0 12 3 20 SOX9 0 genome.wustl.edu 37 17 70120487 70120488 + In_Frame_Ins INS - - ACT TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 17 70120487 70120488 - ACT INS SOX9 ENST00000245479 human ensembl 74_37 +1 known in_frame_ins c.1489_1490 p.498in_frame_insY 1.000:1.000 NULL pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX9 HGNC ENSG00000125398 133 0 0 113 30 20.979 TP53 0 genome.wustl.edu 37 17 7578453 7578477 + Frame_Shift_Del DEL GGCGCGGACGCGGGTGCCGGGCGGG GGCGCGGACGCGGGTGCCGGGCGGG - TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 GGCGCGGACGCGGGTGCCGGGCGGG GGCGCGGACGCGGGTGCCGGGCGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 17 7578453 7578477 GGCGCGGACGCGGGTGCCGGGCGGG - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.477_453 p.P152fs 1.000:1.000:0.996:0.818:0.989:0.981:0.899:0.906:0.032:0.000:0.019:0.010:0.012:0.005:0.003:0.004:0.872:0.872:0.000:0.000:0.000:0.000:1.000:1.000:0.921 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 117 0 0 26 15 36.5854 POTEA 0 genome.wustl.edu 37 8 43155718 43155718 + RNA DEL T T - TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 8 43155718 43155718 T - DEL POTEA ENST00000522175 human ensembl 74_37 +1 known rna NULL NULL 0.985 - - - no_errors POTEA HGNC ENSG00000188877 100 0 0 81 14 14.7368 ENSG00000236986 0 genome.wustl.edu 37 9 134008392 134008392 + RNA DEL T T - TCGA-HU-A4H2-01A-11D-A25D-08 TCGA-HU-A4H2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20b0e793-af9a-4087-9b96-d94dc5e6e62c 327ac72c-b6ed-4beb-82fe-2b57a684d258 9 134008392 134008392 T - DEL ENSG00000236986 ENST00000587264 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-544A12.4 Clone_based_vega_gene ENSG00000236986 28 0 0 23 3 11.5385