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 AACS 0 genome.wustl.edu 37 12 125591812 125591812 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 125591812 125591812 G T SNP AACS ENST00000316519 human ensembl 74_37 +1 known missense c.913 p.G305W 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 41 0 0.00 30 2 6.06 AAMP 0 genome.wustl.edu 37 2 219131642 219131642 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 2 219131642 219131642 C T SNP AAMP ENST00000248450 human ensembl 74_37 -1 known missense c.462 p.M154I 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAMP HGNC ENSG00000127837 tier1 - - 77 0 0.00 59 4 6.35 ABCA12 0 genome.wustl.edu 37 2 215818665 215818665 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 2 215818665 215818665 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.6560 p.G2187D 0.999 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 86 0 0.00 49 4 7.55 ABCC12 0 genome.wustl.edu 37 16 48125057 48125057 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 16 48125057 48125057 C T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.3259 p.V1087M 0.996 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 51 0 0.00 37 2 5.13 ACVR1C 0 genome.wustl.edu 37 2 158397600 158397600 + Splice_Site SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 2 158397600 158397600 A G SNP ACVR1C ENST00000243349 human ensembl 74_37 -1 known splice_site c.1225+2 e7+2 1.000 - - - no_errors ACVR1C HGNC ENSG00000123612 tier1 - - 144 0 0.00 115 22 16.06 AFF2 0 genome.wustl.edu 37 X 148044441 148044441 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc X 148044441 148044441 G T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.2887 p.A963S 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 28 0 0.00 25 3 10.71 AK3 0 genome.wustl.edu 37 9 4741041 4741041 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 9 4741041 4741041 G A SNP AK3 ENST00000381809 human ensembl 74_37 -1 known missense c.47 p.P16L 1.000 pfam_Adenylate_kin,superfamily_P-loop_NTPase,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK3 HGNC ENSG00000147853 62 0 0.00 57 4 6.56 AKAP9 0 genome.wustl.edu 37 7 91714250 91714250 + Missense_Mutation SNP T T A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 7 91714250 91714250 T A SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.8840 p.I2947K 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 29 0 0.00 65 38 36.89 ALPK2 0 genome.wustl.edu 37 18 56202529 56202529 + Silent SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 18 56202529 56202529 A G SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known silent c.4890 p.P1630 0.004 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 tier1 - - 111 0 0.00 100 9 8.26 ALPK3 0 genome.wustl.edu 37 15 85400870 85400870 + Silent SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 15 85400870 85400870 G T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known silent c.3507 p.L1169 0.934 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 tier1 - - 47 0 0.00 61 4 6.15 ANK3 0 genome.wustl.edu 37 10 61905767 61905767 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 10 61905767 61905767 G T SNP ANK3 ENST00000503366 human ensembl 74_37 -1 putative missense c.2576 p.T859K 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 106 0 0.00 98 13 11.61 ANK3 0 genome.wustl.edu 37 10 61834168 61834168 + Silent SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 10 61834168 61834168 G T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.6471 p.P2157 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 38 0 0.00 38 2 5.00 ANKRD11 0 genome.wustl.edu 37 16 89349640 89349641 + Frame_Shift_Ins INS - - T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 16 89349640 89349641 - T INS ANKRD11 ENST00000301030 human ensembl 74_37 -1 known frame_shift_ins c.3310_3309 p.D1103fs 1.000:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 26 0 0.00 26 2 7.14 ASPM 0 genome.wustl.edu 37 1 197097636 197097636 + Missense_Mutation SNP A A C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 197097636 197097636 A C SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.2920 p.C974G 1.000 superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 tier1 - - 112 0 0.00 129 11 7.86 BACH1 0 genome.wustl.edu 37 21 31002955 31002955 + RNA SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 21 31002955 31002955 C T SNP BACH1 ENST00000462262 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors BACH1 HGNC ENSG00000156273 18 0 0.00 30 4 11.76 BLZF1 0 genome.wustl.edu 37 1 169349810 169349810 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 169349810 169349810 C T SNP BLZF1 ENST00000329281 human ensembl 74_37 +1 known missense c.760 p.R254W 1.000 NULL pfam_Hsk3_like - no_errors BLZF1 HGNC ENSG00000117475 tier1 - - 91 0 0.00 72 7 8.86 BRD1 0 genome.wustl.edu 37 22 50217249 50217249 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 22 50217249 50217249 C T SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known silent c.717 p.L239 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 tier1 - - 18 0 0.00 10 3 23.08 BRI3BP 0 genome.wustl.edu 37 12 125509842 125509842 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 125509842 125509842 A G SNP BRI3BP ENST00000341446 human ensembl 74_37 +1 known missense c.622 p.S208G 0.704 NULL NULL - no_errors BRI3BP HGNC ENSG00000184992 59 0 0.00 60 6 9.09 BRI3BP 0 genome.wustl.edu 37 12 125509844 125509844 + Silent SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 125509844 125509844 T C SNP BRI3BP ENST00000341446 human ensembl 74_37 +1 known silent c.624 p.S208 0.982 NULL NULL - no_errors BRI3BP HGNC ENSG00000184992 57 0 0.00 60 7 10.45 BTN3A3 0 genome.wustl.edu 37 6 26452620 26452620 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 6 26452620 26452620 G A SNP BTN3A3 ENST00000244519 human ensembl 74_37 +1 known missense c.1736 p.R579H 0.001 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 56 0 0.00 34 2 5.56 C12orf40 0 genome.wustl.edu 37 12 40041727 40041727 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 40041727 40041727 G T SNP C12orf40 ENST00000324616 human ensembl 74_37 +1 known missense c.518 p.G173V 0.001 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 tier1 - - 77 0 0.00 56 4 6.56 CACNA1G 0 genome.wustl.edu 37 17 48673965 48673965 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 17 48673965 48673965 C T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.3022 p.P1008S 0.888 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 tier1 - - 82 0 0.00 66 4 5.63 CACNA1G 0 genome.wustl.edu 37 17 48694853 48694853 + Silent SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 17 48694853 48694853 G T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known silent c.5076 p.L1692 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 59 0 0.00 72 5 6.49 CC2D1B 0 genome.wustl.edu 37 1 52820354 52820354 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 52820354 52820354 C T SNP CC2D1B ENST00000371586 human ensembl 74_37 -1 known missense c.2374 p.D792N 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1B HGNC ENSG00000154222 67 0 0.00 36 2 5.26 CCDC149 0 genome.wustl.edu 37 4 24838108 24838108 + Nonsense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 4 24838108 24838108 G A SNP CCDC149 ENST00000504487 human ensembl 74_37 -1 known nonsense c.685 p.Q229* 1.000 pfam_Coiled-coil_dom-contain_pr_149 pfam_Coiled-coil_dom-contain_pr_149 - no_errors CCDC149 HGNC ENSG00000181982 tier1 - - 52 0 0.00 56 4 6.67 CCNI2 0 genome.wustl.edu 37 5 132088631 132088631 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 5 132088631 132088631 G A SNP CCNI2 ENST00000378731 human ensembl 74_37 +1 novel missense c.1079 p.C360Y 0.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNI2 HGNC ENSG00000205089 tier1 - - 46 0 0.00 41 9 18.00 CCR7 0 genome.wustl.edu 37 17 38711549 38711549 + Silent SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 17 38711549 38711549 G A SNP CCR7 ENST00000246657 human ensembl 74_37 -1 known silent c.582 p.L194 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCRL1 - no_errors CCR7 HGNC ENSG00000126353 19 0 0.00 15 2 11.76 CD93 0 genome.wustl.edu 37 20 23066170 23066170 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 20 23066170 23066170 C T SNP CD93 ENST00000246006 human ensembl 74_37 -1 known silent c.660 p.A220 0.000 pirsf_CD93/CD141 pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 tier1 - - 56 0 0.00 64 16 20.00 CDRT15L2 0 genome.wustl.edu 37 17 20483230 20483230 + Silent SNP C C A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 17 20483230 20483230 C A SNP CDRT15L2 ENST00000399044 human ensembl 74_37 +1 known silent c.174 p.G58 0.006 NULL NULL - no_errors CDRT15L2 HGNC ENSG00000214819 tier1 - - 82 0 0.00 77 12 13.48 CELSR2 0 genome.wustl.edu 37 1 109793851 109793851 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 109793851 109793851 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.1150 p.A384T 0.097 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 78 0 0.00 48 3 5.88 CELSR3 0 genome.wustl.edu 37 3 48697619 48697619 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 3 48697619 48697619 G T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.2449 p.L817M 0.986 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 tier1 - - 32 0 0.00 40 4 9.09 CEP120 0 genome.wustl.edu 37 5 122717867 122717867 + Nonsense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 5 122717867 122717867 G A SNP CEP120 ENST00000306467 human ensembl 74_37 -1 known nonsense c.2041 p.Q681* 1.000 NULL pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 81 0 0.00 76 5 6.17 CHSY3 0 genome.wustl.edu 37 5 129520782 129520782 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 5 129520782 129520782 G T SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.1947 p.K649N 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 34 0 0.00 38 2 5.00 CISD3 0 genome.wustl.edu 37 17 36891292 36891292 + RNA SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 17 36891292 36891292 T C SNP CISD3 ENST00000578573 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CISD3 HGNC ENSG00000230055 tier1 - - 234 0 0.00 202 50 19.84 CLVS2 0 genome.wustl.edu 37 6 123319130 123319130 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 6 123319130 123319130 C T SNP CLVS2 ENST00000275162 human ensembl 74_37 +1 known missense c.208 p.R70C 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 tier1 - - 43 0 0.00 57 7 10.94 CMYA5 0 genome.wustl.edu 37 5 79059088 79059088 + RNA SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 5 79059088 79059088 G A SNP CMYA5 ENST00000505466 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 33 0 0.00 22 14 38.89 COBLL1 0 genome.wustl.edu 37 2 165552272 165552272 + Missense_Mutation SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 2 165552272 165552272 T C SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known missense c.1945 p.I649V 0.196 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 tier1 - - 83 0 0.00 71 15 17.44 CPA4 0 genome.wustl.edu 37 7 129946698 129946698 + Silent SNP T T A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 7 129946698 129946698 T A SNP CPA4 ENST00000222482 human ensembl 74_37 +1 known silent c.663 p.P221 0.998 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA4 HGNC ENSG00000128510 tier1 - - 48 0 0.00 29 4 12.12 CRNKL1 0 genome.wustl.edu 37 20 20019078 20019078 + Missense_Mutation SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 20 20019078 20019078 T C SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known missense c.2045 p.Y682C 1.000 smart_HAT pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 tier1 - - 84 0 0.00 99 22 18.18 CSK 0 genome.wustl.edu 37 15 75094182 75094182 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 15 75094182 75094182 C T SNP CSK ENST00000220003 human ensembl 74_37 +1 known missense c.1034 p.T345M 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors CSK HGNC ENSG00000103653 tier1 - - 27 0 0.00 26 4 13.33 CTU2 0 genome.wustl.edu 37 16 88779139 88779139 + Missense_Mutation SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 16 88779139 88779139 T C SNP CTU2 ENST00000567949 human ensembl 74_37 +1 known missense c.776 p.L259P 0.009 NULL pfam_Thiouridylase_cyt_su2 - no_errors CTU2 HGNC ENSG00000174177 tier1 - - 47 0 0.00 33 4 10.53 DBI 0 genome.wustl.edu 37 2 120125868 120125868 + Silent SNP C C A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 2 120125868 120125868 C A SNP DBI ENST00000542275 human ensembl 74_37 +1 known silent c.297 p.G99 0.637 pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors DBI HGNC ENSG00000155368 tier1 - - 41 0 0.00 31 10 24.39 DCAF6 0 genome.wustl.edu 37 1 167985183 167985183 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 167985183 167985183 G T SNP DCAF6 ENST00000367840 human ensembl 74_37 +1 known missense c.1543 p.A515S 0.012 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 tier1 - - 44 0 0.00 39 4 9.30 DDAH1 0 genome.wustl.edu 37 1 85787117 85787118 + RNA INS - - G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 85787117 85787118 - G INS DDAH1 ENST00000483110 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.010 - - - no_errors DDAH1 HGNC ENSG00000153904 tier1 96 0 0.00 66 49 42.61 DDX54 0 genome.wustl.edu 37 12 113617119 113617119 + Missense_Mutation SNP C C G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 113617119 113617119 C G SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known missense c.393 p.L131F 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 tier1 - - 45 0 0.00 31 4 11.43 DENND2C 0 genome.wustl.edu 37 1 115127989 115127989 + RNA DEL A A - TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 115127989 115127989 A - DEL DENND2C ENST00000495031 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DENND2C HGNC ENSG00000175984 tier1 27 0 0.00 12 6 33.33 DEPDC5 0 genome.wustl.edu 37 22 32205625 32205625 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 22 32205625 32205625 G T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.1316 p.R439L 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 tier1 - - 41 0 0.00 53 4 7.02 DHX57 0 genome.wustl.edu 37 2 39042707 39042707 + Missense_Mutation SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 2 39042707 39042707 T C SNP DHX57 ENST00000295373 human ensembl 74_37 -1 known missense c.3562 p.R1188G 0.688 pfam_DUF1605 pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 95 0 0.00 76 4 5.00 DIDO1 0 genome.wustl.edu 37 20 61542393 61542393 + Missense_Mutation SNP T T A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 20 61542393 61542393 T A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.572 p.K191M 0.032 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 28 0 0.00 26 5 15.62 DST 0 genome.wustl.edu 37 6 56418172 56418172 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 6 56418172 56418172 G T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.15325 p.L5109I 0.999 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 37 0 0.00 58 4 6.45 EGF 0 genome.wustl.edu 37 4 110901176 110901176 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 4 110901176 110901176 A G SNP EGF ENST00000265171 human ensembl 74_37 +1 known missense c.2102 p.D701G 1.000 pirsf_Pro-epidermal_GF,smart_LDLR_classB_rpt pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 tier1 - - 68 0 0.00 46 25 35.21 ENSG00000216113 0 genome.wustl.edu 37 8 104863873 104863874 + RNA DEL AC AC - TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 8 104863873 104863874 AC - DEL ENSG00000216113 ENST00000401294 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.000 - - - no_errors AP001572.1 Clone_based_ensembl_gene ENSG00000216113 tier1 20 0 0.00 21 5 19.23 ENSG00000225946 0 genome.wustl.edu 37 7 100608467 100608468 + RNA INS - - T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 7 100608467 100608468 - T INS ENSG00000225946 ENST00000420080 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 tier1 22 0 0.00 14 8 36.36 ENSG00000267643 0 genome.wustl.edu 37 18 12201074 12201074 + RNA SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 18 12201074 12201074 A G SNP ENSG00000267643 ENST00000592203 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-64C12.4 Clone_based_vega_gene ENSG00000267643 tier1 - - 31 0 0.00 16 3 15.79 ENSG00000272486 0 genome.wustl.edu 37 8 125592785 125592785 + RNA SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 8 125592785 125592785 G T SNP ENSG00000272486 ENST00000606244 human ensembl 74_37 +1 known rna NULL NULL 0.755 - - - no_errors RP11-532M24.1 Clone_based_vega_gene ENSG00000272486 tier1 - - 68 0 0.00 53 4 7.02 ERBB3 0 genome.wustl.edu 37 12 56495558 56495558 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 56495558 56495558 C T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.3748 p.P1250S 0.342 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 tier1 - - 74 0 0.00 63 4 5.97 ERC2 0 genome.wustl.edu 37 3 55543261 55543262 + RNA INS - - T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 3 55543261 55543262 - T INS ERC2 ENST00000484530 human ensembl 74_37 -1 known rna NULL NULL 0.078:0.002 - - - no_errors ERC2 HGNC ENSG00000187672 tier1 41 0 0.00 22 3 12.00 ERCC8 0 genome.wustl.edu 37 5 60183321 60183321 + Nonsense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 5 60183321 60183321 G T SNP ERCC8 ENST00000265038 human ensembl 74_37 -1 known nonsense c.1068 p.C356* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ERCC8 HGNC ENSG00000049167 84 0 0.00 54 3 5.26 EXOSC10 0 genome.wustl.edu 37 1 11137657 11137657 + Splice_Site SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 11137657 11137657 C T SNP EXOSC10 ENST00000376936 human ensembl 74_37 -1 known splice_site c.1800+1 e15+1 1.000 - - - no_errors EXOSC10 HGNC ENSG00000171824 25 0 0.00 35 4 10.26 FAM135B 0 genome.wustl.edu 37 8 139180219 139180219 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 8 139180219 139180219 C T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.1177 p.A393T 0.958 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 43 0 0.00 30 4 11.76 FAM178A 0 genome.wustl.edu 37 10 102721632 102721632 + Splice_Site SNP A A T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 10 102721632 102721632 A T SNP FAM178A ENST00000238961 human ensembl 74_37 +1 known splice_site c.3487-2 e20-2 1.000 - - - no_errors FAM178A HGNC ENSG00000119906 tier1 - - 35 0 0.00 48 4 7.69 FAM189A1 0 genome.wustl.edu 37 15 29421029 29421029 + Silent SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 15 29421029 29421029 G T SNP FAM189A1 ENST00000261275 human ensembl 74_37 -1 known silent c.966 p.S322 0.992 NULL pfam_CD20-like - no_errors FAM189A1 HGNC ENSG00000104059 71 0 0.00 71 4 5.33 FAM86DP 0 genome.wustl.edu 37 3 75471400 75471400 + RNA SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 3 75471400 75471400 C T SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FAM86DP HGNC ENSG00000244026 9 0 0.00 13 4 23.53 FAM91A1 0 genome.wustl.edu 37 8 124790951 124790951 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 8 124790951 124790951 A G SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known missense c.488 p.E163G 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 tier1 - - 91 0 0.00 74 4 5.13 FANCA 0 genome.wustl.edu 37 16 89837003 89837003 + Missense_Mutation SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 16 89837003 89837003 T C SNP FANCA ENST00000389301 human ensembl 74_37 -1 known missense c.2191 p.M731V 0.040 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 tier1 - - 90 0 0.00 91 5 5.21 FAT1 0 genome.wustl.edu 37 4 187629096 187629096 + Frame_Shift_Del DEL G G - TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 4 187629096 187629096 G - DEL FAT1 ENST00000441802 human ensembl 74_37 -1 known frame_shift_del c.1886 p.S629fs 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 75 0 0.00 54 20 27.03 FAT3 0 genome.wustl.edu 37 11 92531258 92531258 + Missense_Mutation SNP C C G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 11 92531258 92531258 C G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.5079 p.I1693M 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 38 0 0.00 26 5 16.13 FAT4 0 genome.wustl.edu 37 4 126242539 126242539 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 4 126242539 126242539 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.4973 p.G1658V 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 88 0 0.00 57 4 6.56 FBXO7 0 genome.wustl.edu 37 22 32875073 32875073 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 22 32875073 32875073 G T SNP FBXO7 ENST00000266087 human ensembl 74_37 +1 known missense c.228 p.L76F 0.870 NULL pfam_FP_dom,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO7 HGNC ENSG00000100225 tier1 - - 53 0 0.00 48 4 7.69 FGF23 0 genome.wustl.edu 37 12 4479523 4479523 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 4479523 4479523 C T SNP FGF23 ENST00000237837 human ensembl 74_37 -1 known missense c.742 p.A248T 0.030 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF23 HGNC ENSG00000118972 tier1 - - 69 0 0.00 56 9 13.85 FGR 0 genome.wustl.edu 37 1 27942244 27942244 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 27942244 27942244 A G SNP FGR ENST00000374003 human ensembl 74_37 -1 known missense c.794 p.L265P 0.816 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FGR HGNC ENSG00000000938 tier1 - - 38 0 0.00 39 4 9.30 FNDC1 0 genome.wustl.edu 37 6 159621085 159621085 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 6 159621085 159621085 G A SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.362 p.R121H 0.986 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 tier1 - - 100 0 0.00 78 18 18.75 FRMPD3 0 genome.wustl.edu 37 X 106841057 106841059 + In_Frame_Del DEL GAG GAG - TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc X 106841057 106841059 GAG - DEL FRMPD3 ENST00000276185 human ensembl 74_37 +1 known in_frame_del c.2047_2049 p.E686in_frame_del 1.000:1.000:1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 tier1 23 0 0.00 26 6 18.75 FUT9 0 genome.wustl.edu 37 6 96651510 96651510 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 6 96651510 96651510 G A SNP FUT9 ENST00000302103 human ensembl 74_37 +1 known missense c.479 p.R160H 0.950 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 tier1 - - 48 0 0.00 42 6 12.50 GALE 0 genome.wustl.edu 37 1 24124733 24124733 + RNA SNP C C G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 24124733 24124733 C G SNP GALE ENST00000467493 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GALE HGNC ENSG00000117308 tier1 - - 56 0 0.00 50 41 45.05 GDPD1 0 genome.wustl.edu 37 17 57334523 57334523 + Silent SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 17 57334523 57334523 G T SNP GDPD1 ENST00000284116 human ensembl 74_37 +1 known silent c.408 p.L136 1.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD1 HGNC ENSG00000153982 tier1 - - 121 0 0.00 113 6 5.04 GIF 0 genome.wustl.edu 37 11 59604768 59604768 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 11 59604768 59604768 C T SNP GIF ENST00000257248 human ensembl 74_37 -1 known silent c.750 p.T250 0.969 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors GIF HGNC ENSG00000134812 tier1 - - 89 0 0.00 84 16 16.00 GOLGA8DP 0 genome.wustl.edu 37 15 22705501 22705501 + Splice_Site DEL C C - TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 15 22705501 22705501 C - DEL GOLGA8DP ENST00000314246 human ensembl 74_37 -1 known splice_site_del c.NULL NULL 0.006 - - - no_errors GOLGA8DP HGNC ENSG00000185182 tier1 12 0 0.00 6 8 57.14 HBE1 0 genome.wustl.edu 37 11 5290891 5290891 + Nonsense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 11 5290891 5290891 G T SNP HBE1 ENST00000292896 human ensembl 74_37 -1 known nonsense c.108 p.Y36* 0.998 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBE1 HGNC ENSG00000213931 tier1 - - 57 0 0.00 31 11 26.19 HBP1 0 genome.wustl.edu 37 7 106822898 106822898 + Missense_Mutation SNP C C A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 7 106822898 106822898 C A SNP HBP1 ENST00000222574 human ensembl 74_37 +1 known missense c.250 p.Q84K 1.000 NULL pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom - no_errors HBP1 HGNC ENSG00000105856 tier1 - - 86 0 0.00 39 21 35.00 HCFC1R1 0 genome.wustl.edu 37 16 3073311 3073311 + Silent SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 16 3073311 3073311 G A SNP HCFC1R1 ENST00000248089 human ensembl 74_37 -1 known silent c.204 p.F68 1.000 NULL NULL - no_errors HCFC1R1 HGNC ENSG00000103145 tier1 - - 30 0 0.00 26 11 29.73 HTT 0 genome.wustl.edu 37 4 3184082 3184082 + Missense_Mutation SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 4 3184082 3184082 T C SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.4751 p.V1584A 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 63 0 0.00 61 4 6.15 IKBKAP 0 genome.wustl.edu 37 9 111688831 111688831 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 9 111688831 111688831 C T SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known silent c.438 p.Q146 0.955 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 tier1 - - 78 0 0.00 52 4 7.14 IL1B 0 genome.wustl.edu 37 2 113591100 113591100 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 2 113591100 113591100 C T SNP IL1B ENST00000263341 human ensembl 74_37 -1 known missense c.152 p.R51Q 0.024 pfam_IL-1_propep,prints_IL-1_beta pfam_IL-1,pfam_IL-1_propep,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_beta,prints_IL-1_alpha/beta,prints_IL-1,prints_IL-1_fam/FGF_fam,prints_IL-1RA/IL-36 - no_errors IL1B HGNC ENSG00000125538 31 0 0.00 22 2 8.33 IL1RAPL2 0 genome.wustl.edu 37 X 105011645 105011645 + Missense_Mutation SNP T T G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc X 105011645 105011645 T G SNP IL1RAPL2 ENST00000344799 human ensembl 74_37 +1 known missense c.2052 p.D684E 1.000 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ - no_errors IL1RAPL2 HGNC ENSG00000189108 tier1 - - 11 0 0.00 8 6 42.86 IL1RL2 0 genome.wustl.edu 37 2 102835498 102835498 + Silent SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 2 102835498 102835498 G T SNP IL1RL2 ENST00000264257 human ensembl 74_37 +1 known silent c.810 p.V270 0.694 smart_Ig_sub pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ - no_errors IL1RL2 HGNC ENSG00000115598 tier1 - - 70 0 0.00 60 4 6.25 IL6ST 0 genome.wustl.edu 37 5 55256372 55256372 + Silent SNP T T A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 5 55256372 55256372 T A SNP IL6ST ENST00000336909 human ensembl 74_37 -1 known silent c.831 p.T277 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 tier1 - - 51 0 0.00 47 13 21.67 IQUB 0 genome.wustl.edu 37 7 123150076 123150076 + Silent SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 7 123150076 123150076 A G SNP IQUB ENST00000324698 human ensembl 74_37 -1 known silent c.411 p.L137 0.993 pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 tier1 - - 149 0 0.00 88 40 31.25 ITPKC 0 genome.wustl.edu 37 19 41239217 41239217 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 19 41239217 41239217 G T SNP ITPKC ENST00000263370 human ensembl 74_37 +1 known missense c.1622 p.R541M 1.000 pfam_IPK pfam_IPK - no_errors ITPKC HGNC ENSG00000086544 55 0 0.00 51 3 5.56 JMJD1C 0 genome.wustl.edu 37 10 64958355 64958355 + Silent SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 10 64958355 64958355 T C SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known silent c.5409 p.K1803 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 30 0 0.00 19 3 13.64 KAT6A 0 genome.wustl.edu 37 8 41836223 41836223 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 8 41836223 41836223 A G SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.980 p.I327T 1.000 superfamily_Znf_FYVE_PHD pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 tier1 - - 71 0 0.00 92 23 19.83 KCNA5 0 genome.wustl.edu 37 12 5154910 5154910 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 5154910 5154910 G T SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.1597 p.A533S 0.998 prints_K_chnl_volt-dep_Kv1.5 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 tier1 - - 59 0 0.00 69 4 5.48 KDM4B 0 genome.wustl.edu 37 19 5144079 5144079 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 19 5144079 5144079 C T SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known silent c.2652 p.H884 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 tier1 - - 72 0 0.00 71 10 12.35 KIAA0319 0 genome.wustl.edu 37 6 24569066 24569066 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 6 24569066 24569066 C T SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.2083 p.V695M 0.998 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 tier1 - - 60 0 0.00 55 4 6.78 KIF11 0 genome.wustl.edu 37 10 94373310 94373310 + Missense_Mutation SNP T T A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 10 94373310 94373310 T A SNP KIF11 ENST00000260731 human ensembl 74_37 +1 known missense c.966 p.D322E 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 tier1 - - 111 0 0.00 90 19 17.43 KIF16B 0 genome.wustl.edu 37 20 16474995 16474995 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 20 16474995 16474995 C T SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.1243 p.V415I 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 tier1 - - 78 0 0.00 102 19 15.70 KLB 0 genome.wustl.edu 37 4 39439377 39439377 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 4 39439377 39439377 G A SNP KLB ENST00000257408 human ensembl 74_37 +1 known missense c.1367 p.G456D 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 tier1 - - 89 0 0.00 69 5 6.76 KMT2B 0 genome.wustl.edu 37 19 36218097 36218097 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 19 36218097 36218097 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.4044 p.N1348 0.752 pirsf_MeTrfase_trithorax,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 - - 48 0 0.00 36 12 25.00 KPNA7 0 genome.wustl.edu 37 7 98805040 98805040 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 7 98805040 98805040 C T SNP KPNA7 ENST00000327442 human ensembl 74_37 -1 known missense c.50 p.R17Q 0.910 pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA7 HGNC ENSG00000185467 tier1 - - 58 0 0.00 226 24 9.60 KREMEN1 0 genome.wustl.edu 37 22 29533368 29533368 + Missense_Mutation SNP T T G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 22 29533368 29533368 T G SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known missense c.670 p.S224A 0.995 pirsf_Kremen,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 tier1 - - 54 0 0.00 50 16 24.24 LAMB1 0 genome.wustl.edu 37 7 107570010 107570010 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 7 107570010 107570010 A G SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.4592 p.M1531T 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 tier1 - - 34 0 0.00 18 15 45.45 LIG1 0 genome.wustl.edu 37 19 48630558 48630558 + Silent SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 19 48630558 48630558 G A SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known silent c.1980 p.F660 1.000 pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 tier1 - - 51 0 0.00 35 39 52.70 LILRA6 0 genome.wustl.edu 37 19 54743803 54743803 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 19 54743803 54743803 G A SNP LILRA6 ENST00000419410 human ensembl 74_37 -1 known missense c.1283 p.P428L 0.001 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRA6 HGNC ENSG00000244482 tier1 - - 50 0 0.00 32 31 49.21 LIN9 0 genome.wustl.edu 37 1 226475417 226475417 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 226475417 226475417 G A SNP LIN9 ENST00000328205 human ensembl 74_37 -1 known missense c.394 p.P132S 1.000 NULL pfam_LIN-9/ALY1 - no_errors LIN9 HGNC ENSG00000183814 tier1 - - 90 0 0.00 56 19 25.33 LINC00922 0 genome.wustl.edu 37 16 65319330 65319330 + RNA SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 16 65319330 65319330 G A SNP LINC00922 ENST00000564041 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00922 HGNC ENSG00000261742 tier1 - - 39 0 0.00 21 11 34.38 LMF1 0 genome.wustl.edu 37 16 919016 919016 + Missense_Mutation SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 16 919016 919016 T C SNP LMF1 ENST00000262301 human ensembl 74_37 -1 known missense c.1457 p.K486R 1.000 pfam_LMF pfam_LMF - no_errors LMF1 HGNC ENSG00000103227 tier1 - - 46 0 0.00 49 4 7.55 LOC101928921 0 genome.wustl.edu 37 11 78807960 78807961 + RNA INS - - GC TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 11 78807960 78807961 - GC INS LOC101928921 ENST00000526091 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTD-2337I7.1 Clone_based_vega_gene ENSG00000255345 tier1 15 0 0.00 21 3 12.50 LRP5 0 genome.wustl.edu 37 11 68157387 68157387 + Missense_Mutation SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 11 68157387 68157387 T C SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.1451 p.I484T 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt 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 tier1 - - 58 0 0.00 49 17 25.76 LRRC63 0 genome.wustl.edu 37 13 46802808 46802808 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 13 46802808 46802808 G T SNP LRRC63 ENST00000446175 human ensembl 74_37 +1 known missense c.772 p.V258L 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 tier1 - - 61 0 0.00 67 4 5.63 LRRIQ1 0 genome.wustl.edu 37 12 85546923 85546923 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 85546923 85546923 G T SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.4541 p.R1514I 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 99 0 0.00 57 18 24.00 MAML1 0 genome.wustl.edu 37 5 179192504 179192504 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 5 179192504 179192504 G A SNP MAML1 ENST00000292599 human ensembl 74_37 +1 known missense c.493 p.D165N 0.998 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 49 0 0.00 47 3 6.00 MAMLD1 0 genome.wustl.edu 37 X 149680831 149680831 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc X 149680831 149680831 G T SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known missense c.2485 p.A829S 0.000 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 tier1 - - 47 0 0.00 64 4 5.88 MAP7 0 genome.wustl.edu 37 6 136667017 136667017 + Missense_Mutation SNP C C A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 6 136667017 136667017 C A SNP MAP7 ENST00000454590 human ensembl 74_37 -1 known missense c.2282 p.G761V 1.000 NULL pfam_MAP7 - no_errors MAP7 HGNC ENSG00000135525 tier1 - - 76 0 0.00 40 4 9.09 MIR134 0 genome.wustl.edu 37 14 101521055 101521055 + RNA SNP T T A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 14 101521055 101521055 T A SNP MIR134 ENST00000385258 human ensembl 74_37 +1 known rna NULL NULL 0.291 - - - no_errors MIR134 HGNC ENSG00000207993 tier1 - - 55 0 0.00 49 4 7.55 MIR409 0 genome.wustl.edu 37 14 101531679 101531679 + RNA SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 14 101531679 101531679 C T SNP MIR409 ENST00000362237 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR409 HGNC ENSG00000199107 tier1 - - 90 0 0.00 42 13 23.64 MPZL1 0 genome.wustl.edu 37 1 167741701 167741701 + Missense_Mutation SNP A A T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 167741701 167741701 A T SNP MPZL1 ENST00000359523 human ensembl 74_37 +1 known missense c.448 p.I150F 0.996 pfam_Ig_V-set,smart_Ig_sub,prints_Myelin_P0 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors MPZL1 HGNC ENSG00000197965 tier1 - - 48 0 0.00 52 5 8.77 MS4A10 0 genome.wustl.edu 37 11 60565933 60565933 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 11 60565933 60565933 C T SNP MS4A10 ENST00000308287 human ensembl 74_37 +1 known missense c.668 p.P223L 0.012 NULL pfam_CD20-like - no_errors MS4A10 HGNC ENSG00000172689 tier1 - - 69 0 0.00 51 16 23.88 MT-TV 0 genome.wustl.edu 37 MT 1605 1605 + RNA SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc MT 1605 1605 A G SNP MT-TV ENST00000387342 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TV HGNC ENSG00000210077 tier1 - - 26 0 0.00 7 4 36.36 MTR 0 genome.wustl.edu 37 1 237057959 237057959 + RNA DEL T T - TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 237057959 237057959 T - DEL MTR ENST00000470570 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MTR HGNC ENSG00000116984 tier1 17 0 0.00 4 4 50.00 MYH1 0 genome.wustl.edu 37 17 10415473 10415473 + Missense_Mutation SNP G G C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 17 10415473 10415473 G C SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.1184 p.S395C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 96 0 0.00 95 20 17.39 MYH2 0 genome.wustl.edu 37 17 10426976 10426976 + Missense_Mutation SNP A A T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 17 10426976 10426976 A T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.5309 p.M1770K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 111 0 0.00 63 41 39.42 MYO15A 0 genome.wustl.edu 37 17 18023165 18023165 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 17 18023165 18023165 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.1051 p.A351T 0.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 88 0 0.00 73 27 27.00 MYO1D 0 genome.wustl.edu 37 17 30921477 30921477 + RNA SNP G G C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 17 30921477 30921477 G C SNP MYO1D ENST00000580547 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MYO1D HGNC ENSG00000176658 tier1 - - 41 0 0.00 34 8 19.05 MYO5B 0 genome.wustl.edu 37 18 47402068 47402068 + Nonsense_Mutation SNP T T A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 18 47402068 47402068 T A SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known nonsense c.3526 p.K1176* 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 69 0 0.00 38 2 5.00 MYOCD 0 genome.wustl.edu 37 17 12656133 12656133 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 17 12656133 12656133 C T SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known silent c.1528 p.L510 0.563 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 - - 43 0 0.00 58 4 6.45 N4BP2L2 0 genome.wustl.edu 37 13 33091950 33091950 + Missense_Mutation SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 13 33091950 33091950 T C SNP N4BP2L2 ENST00000267068 human ensembl 74_37 -1 known missense c.1741 p.N581D 0.000 NULL pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase - no_errors N4BP2L2 HGNC ENSG00000244754 69 0 0.00 53 3 5.36 NAALADL2 0 genome.wustl.edu 37 3 175473128 175473128 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 3 175473128 175473128 G A SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.2111 p.R704H 0.815 superfamily_TFR-like_dimer_dom superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 44 0 0.00 41 4 8.89 NAPSA 0 genome.wustl.edu 37 19 50863114 50863114 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 19 50863114 50863114 G T SNP NAPSA ENST00000253719 human ensembl 74_37 -1 known missense c.674 p.P225H 0.993 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors NAPSA HGNC ENSG00000131400 78 0 0.00 60 4 6.25 NCDN 0 genome.wustl.edu 37 1 36028933 36028933 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 36028933 36028933 G A SNP NCDN ENST00000356090 human ensembl 74_37 +1 known missense c.1516 p.D506N 0.465 NULL NULL - no_errors NCDN HGNC ENSG00000020129 tier1 - - 38 0 0.00 28 18 39.13 NDST4 0 genome.wustl.edu 37 4 115997643 115997643 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 4 115997643 115997643 G T SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.550 p.L184I 0.996 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 tier1 - - 74 0 0.00 42 9 17.65 NDUFAF3 0 genome.wustl.edu 37 3 49059963 49059963 + Nonsense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 3 49059963 49059963 C T SNP NDUFAF3 ENST00000326925 human ensembl 74_37 +1 known nonsense c.262 p.Q88* 1.000 pfam_NADH_Ub_cplx-1_asu_assmbl-fac3,superfamily_NADH_Ub_cplx-1_asu_assmbl-fac3 pfam_NADH_Ub_cplx-1_asu_assmbl-fac3,superfamily_NADH_Ub_cplx-1_asu_assmbl-fac3 - no_errors NDUFAF3 HGNC ENSG00000178057 38 0 0.00 35 2 5.41 NFYB 0 genome.wustl.edu 37 12 104515062 104515062 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 104515062 104515062 G T SNP NFYB ENST00000240055 human ensembl 74_37 -1 known missense c.467 p.T156K 1.000 superfamily_Histone-fold pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3 - no_errors NFYB HGNC ENSG00000120837 tier1 - - 42 0 0.00 46 4 8.00 NOTCH2 0 genome.wustl.edu 37 1 120512304 120512304 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 120512304 120512304 C T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.938 p.G313D 1.000 pirsf_Notch,pfam_EGF-like_Ca-bd_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 tier1 - - 79 0 0.00 45 13 22.41 NRIP1 0 genome.wustl.edu 37 21 16339180 16339180 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 21 16339180 16339180 C T SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.1334 p.C445Y 1.000 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 tier1 - - 58 0 0.00 59 4 6.35 NSMCE1 0 genome.wustl.edu 37 16 27237089 27237089 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 16 27237089 27237089 G A SNP NSMCE1 ENST00000361439 human ensembl 74_37 -1 known missense c.679 p.R227C 0.044 pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING pfam_Nse1,pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING - no_errors NSMCE1 HGNC ENSG00000169189 tier1 - - 78 0 0.00 79 24 23.30 NUAK1 0 genome.wustl.edu 37 12 106460744 106460744 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 106460744 106460744 G A SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.1822 p.L608F 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 tier1 - - 83 0 0.00 69 17 19.77 OR2AG2 0 genome.wustl.edu 37 11 6790090 6790090 + Silent SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 11 6790090 6790090 G T SNP OR2AG2 ENST00000338569 human ensembl 74_37 -1 known silent c.99 p.I33 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AG2 HGNC ENSG00000188124 tier1 - - 85 0 0.00 36 25 40.98 OR2T3 0 genome.wustl.edu 37 1 248636827 248636827 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 248636827 248636827 G A SNP OR2T3 ENST00000359594 human ensembl 74_37 +1 known missense c.176 p.R59H 0.000 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 OR2T3 HGNC ENSG00000196539 tier1 - - 44 0 0.00 37 11 22.92 OSBPL9 0 genome.wustl.edu 37 1 52253063 52253063 + Missense_Mutation SNP A A C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 52253063 52253063 A C SNP OSBPL9 ENST00000371710 human ensembl 74_37 +1 known missense c.2093 p.D698A 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 tier1 - - 57 0 0.00 38 12 24.00 OTOG 0 genome.wustl.edu 37 11 17580138 17580138 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 11 17580138 17580138 C T SNP OTOG ENST00000399391 human ensembl 74_37 +1 known silent c.1086 p.H362 0.953 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 tier1 - - 42 0 0.00 34 8 19.05 PAPPA2 0 genome.wustl.edu 37 1 176679139 176679139 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 176679139 176679139 A G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.3478 p.M1160V 0.006 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 48 0 0.00 60 4 6.25 PCDH12 0 genome.wustl.edu 37 5 141335614 141335614 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 5 141335614 141335614 C T SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known silent c.1803 p.A601 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 tier1 - - 101 0 0.00 118 33 21.85 PCDHA10 0 genome.wustl.edu 37 5 140235896 140235896 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 5 140235896 140235896 G A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.263 p.R88Q 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 tier1 - - 165 0 0.00 145 43 22.87 PCDHB12 0 genome.wustl.edu 37 5 140589663 140589663 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 5 140589663 140589663 C T SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.1184 p.S395F 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 tier1 - - 154 0 0.00 92 30 24.59 PDZD2 0 genome.wustl.edu 37 5 32057775 32057775 + Missense_Mutation SNP G G C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 5 32057775 32057775 G C SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.1915 p.D639H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 48 0 0.00 64 5 7.25 PEX1 0 genome.wustl.edu 37 7 92135590 92135590 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 7 92135590 92135590 C T SNP PEX1 ENST00000248633 human ensembl 74_37 -1 known silent c.1872 p.V624 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 62 0 0.00 65 4 5.80 PIGS 0 genome.wustl.edu 37 17 26881311 26881311 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 17 26881311 26881311 G A SNP PIGS ENST00000308360 human ensembl 74_37 -1 known missense c.1595 p.P532L 1.000 pfam_PtdIno-glycan_biosynth_class_S pfam_PtdIno-glycan_biosynth_class_S - no_errors PIGS HGNC ENSG00000087111 57 0 0.00 55 3 5.17 PKD1 0 genome.wustl.edu 37 16 2157788 2157788 + RNA SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 16 2157788 2157788 G A SNP PKD1 ENST00000473780 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 74 0 0.00 66 40 37.74 PKD1L3 0 genome.wustl.edu 37 16 71976822 71976822 + RNA SNP A A T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 16 71976822 71976822 A T SNP PKD1L3 ENST00000335106 human ensembl 74_37 -1 known rna NULL NULL 0.165 - - - no_errors PKD1L3 HGNC ENSG00000187008 tier1 - - 130 0 0.00 84 44 34.38 PKIA 0 genome.wustl.edu 37 8 79514046 79514046 + Missense_Mutation SNP C C A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 8 79514046 79514046 C A SNP PKIA ENST00000352966 human ensembl 74_37 +1 known missense c.221 p.S74Y 0.996 pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI - no_errors PKIA HGNC ENSG00000171033 tier1 - - 100 0 0.00 66 17 20.48 PLXNA2 0 genome.wustl.edu 37 1 208227883 208227883 + Missense_Mutation SNP C C A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 208227883 208227883 C A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.2739 p.Q913H 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 tier1 - - 77 0 0.00 50 11 18.03 POC5 0 genome.wustl.edu 37 5 75001600 75001601 + Frame_Shift_Ins INS - - CA TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 5 75001600 75001601 - CA INS POC5 ENST00000428202 human ensembl 74_37 -1 known frame_shift_ins c.236_235 p.E79fs 0.000:0.013 NULL NULL - no_errors POC5 HGNC ENSG00000152359 tier1 121 0 0.00 98 11 10.09 POLR2B 0 genome.wustl.edu 37 4 57845161 57845161 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 4 57845161 57845161 G T SNP POLR2B ENST00000314595 human ensembl 74_37 +1 known missense c.10 p.A4S 1.000 NULL pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 tier1 - - 118 0 0.00 67 5 6.94 POM121L12 0 genome.wustl.edu 37 7 53103932 53103932 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 7 53103932 53103932 G T SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.568 p.A190S 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 54 0 0.00 73 4 5.19 POP1 0 genome.wustl.edu 37 8 99139843 99139843 + Nonsense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 8 99139843 99139843 C T SNP POP1 ENST00000349693 human ensembl 74_37 +1 known nonsense c.163 p.R55* 0.035 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 101 0 0.00 64 4 5.88 PPIL3 0 genome.wustl.edu 37 2 201753762 201753762 + RNA SNP C C A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 2 201753762 201753762 C A SNP PPIL3 ENST00000465823 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PPIL3 HGNC ENSG00000240344 tier1 - - 44 0 0.00 46 8 14.81 PPP1CC 0 genome.wustl.edu 37 12 111157945 111157945 + Silent SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 111157945 111157945 G A SNP PPP1CC ENST00000340766 human ensembl 74_37 -1 known silent c.1008 p.Y336 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CC HGNC ENSG00000186298 tier1 - - 69 0 0.00 51 4 7.14 PRPF38B 0 genome.wustl.edu 37 1 109235463 109235463 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 109235463 109235463 G A SNP PRPF38B ENST00000370025 human ensembl 74_37 +1 known missense c.250 p.E84K 1.000 pfam_PRP38 pfam_PRP38 - no_errors PRPF38B HGNC ENSG00000134186 45 0 0.00 31 2 6.06 PRRC2B 0 genome.wustl.edu 37 9 134357827 134357827 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 9 134357827 134357827 A G SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.5053 p.T1685A 0.979 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 40 0 0.00 32 3 8.57 PSAT1 0 genome.wustl.edu 37 9 80919746 80919746 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 9 80919746 80919746 G T SNP PSAT1 ENST00000376588 human ensembl 74_37 +1 known missense c.287 p.G96V 0.209 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr - no_errors PSAT1 HGNC ENSG00000135069 57 0 0.00 44 4 8.33 PSD 0 genome.wustl.edu 37 10 104173823 104173823 + Missense_Mutation SNP G G C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 10 104173823 104173823 G C SNP PSD ENST00000020673 human ensembl 74_37 -1 known missense c.1256 p.S419C 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 tier1 - - 141 0 0.00 112 32 22.22 PSIP1 0 genome.wustl.edu 37 9 15472611 15472612 + RNA INS - - A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 9 15472611 15472612 - A INS PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors PSIP1 HGNC ENSG00000164985 tier1 37 0 0.00 30 4 11.76 PTGER3 0 genome.wustl.edu 37 1 71477991 71477991 + Silent SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 71477991 71477991 G A SNP PTGER3 ENST00000354608 human ensembl 74_37 -1 known silent c.1074 p.C358 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 tier1 - - 57 0 0.00 48 4 7.69 PTPRO 0 genome.wustl.edu 37 12 15673162 15673162 + Missense_Mutation SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 15673162 15673162 T C SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.1807 p.Y603H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 PTPRO HGNC ENSG00000151490 33 0 0.00 48 4 7.69 PVRL3 0 genome.wustl.edu 37 3 110852683 110852683 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 3 110852683 110852683 G T SNP PVRL3 ENST00000485303 human ensembl 74_37 +1 known missense c.1271 p.G424V 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PVRL3 HGNC ENSG00000177707 60 0 0.00 75 4 5.06 PXK 0 genome.wustl.edu 37 3 58376920 58376920 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 3 58376920 58376920 G T SNP PXK ENST00000356151 human ensembl 74_37 +1 known missense c.513 p.Q171H 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom - no_errors PXK HGNC ENSG00000168297 tier1 - - 70 0 0.00 59 4 6.35 RABGGTB 0 genome.wustl.edu 37 1 76257240 76257240 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 76257240 76257240 A G SNP RABGGTB ENST00000319942 human ensembl 74_37 +1 known missense c.563 p.E188G 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors RABGGTB HGNC ENSG00000137955 tier1 - - 52 0 0.00 61 4 6.15 RANBP2 0 genome.wustl.edu 37 2 109367786 109367786 + Missense_Mutation SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 2 109367786 109367786 T C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.1340 p.L447S 0.027 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 tier1 - - 455 0 0.00 336 94 21.81 RBM5 0 genome.wustl.edu 37 3 50129549 50129549 + Silent SNP C C A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 3 50129549 50129549 C A SNP RBM5 ENST00000347869 human ensembl 74_37 +1 known silent c.91 p.R31 0.620 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 98 0 0.00 71 4 5.26 RBMX2 0 genome.wustl.edu 37 X 129536265 129536265 + Silent SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc X 129536265 129536265 T C SNP RBMX2 ENST00000305536 human ensembl 74_37 +1 known silent c.42 p.N14 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX2 HGNC ENSG00000134597 tier1 - - 68 0 0.00 25 14 35.90 REG3A 0 genome.wustl.edu 37 2 79385795 79385795 + Frame_Shift_Del DEL T T - TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 2 79385795 79385795 T - DEL REG3A ENST00000305165 human ensembl 74_37 -1 known frame_shift_del c.177 p.K59fs 0.021 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3A HGNC ENSG00000172016 tier1 36 0 0.00 35 2 5.41 RHPN1-AS1 0 genome.wustl.edu 37 8 144450249 144450249 + RNA SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 8 144450249 144450249 G T SNP RHPN1-AS1 ENST00000518049 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RHPN1-AS1 HGNC ENSG00000254389 62 0 0.00 75 4 5.06 RIMKLA 0 genome.wustl.edu 37 1 42865151 42865151 + Silent SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 42865151 42865151 G A SNP RIMKLA ENST00000431473 human ensembl 74_37 +1 known silent c.240 p.Q80 1.000 tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLA HGNC ENSG00000177181 tier1 - - 45 0 0.00 52 4 7.14 RN7SL545P 0 genome.wustl.edu 37 15 22706891 22706891 + RNA SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 15 22706891 22706891 C T SNP RN7SL545P ENST00000495815 human ensembl 74_37 -1 known rna NULL NULL 0.771 - - - no_errors RN7SL545P HGNC ENSG00000241034 tier1 - - 30 0 0.00 32 7 17.95 RPGRIP1L 0 genome.wustl.edu 37 16 53652936 53652936 + Splice_Site SNP C C A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 16 53652936 53652936 C A SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known splice_site c.3616+1 e23+1 1.000 - - - no_errors RPGRIP1L HGNC ENSG00000103494 tier1 - - 59 0 0.00 54 4 6.90 RTL1 0 genome.wustl.edu 37 14 101349583 101349583 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 14 101349583 101349583 C T SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.1543 p.E515K 0.102 superfamily_Peptidase_aspartic_dom pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 63 0 0.00 68 14 17.07 RYR2 0 genome.wustl.edu 37 1 237664074 237664074 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 237664074 237664074 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.2261 p.S754I 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,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 tier1 - - 69 0 0.00 47 4 7.84 SDK2 0 genome.wustl.edu 37 17 71364724 71364724 + Missense_Mutation SNP G G C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 17 71364724 71364724 G C SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.4989 p.F1663L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 32 0 0.00 37 2 5.13 SEMA3A 0 genome.wustl.edu 37 7 83634710 83634710 + Silent SNP G G C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 7 83634710 83634710 G C SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known silent c.1305 p.V435 0.982 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 tier1 - - 85 0 0.00 81 40 33.06 SFXN2 0 genome.wustl.edu 37 10 104489519 104489519 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 10 104489519 104489519 G A SNP SFXN2 ENST00000369893 human ensembl 74_37 +1 known missense c.547 p.A183T 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC ENSG00000156398 tier1 - - 56 0 0.00 48 14 22.58 SGCZ 0 genome.wustl.edu 37 8 14412433 14412433 + Missense_Mutation SNP C C G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 8 14412433 14412433 C G SNP SGCZ ENST00000382080 human ensembl 74_37 -1 known missense c.42 p.M14I 1.000 NULL pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 tier1 - - 64 0 0.00 55 14 20.29 SGK3 0 genome.wustl.edu 37 8 67716673 67716673 + Missense_Mutation SNP T T A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 8 67716673 67716673 T A SNP SGK3 ENST00000345714 human ensembl 74_37 +1 known missense c.244 p.F82I 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors SGK3 HGNC ENSG00000104205 tier1 - - 202 0 0.00 169 47 21.76 SHANK2 0 genome.wustl.edu 37 11 70332599 70332599 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 11 70332599 70332599 G T SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.3802 p.Q1268K 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 tier1 - - 63 0 0.00 195 16 7.58 SIN3A 0 genome.wustl.edu 37 15 75693273 75693273 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 15 75693273 75693273 G T SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known missense c.1535 p.P512H 1.000 pfam_PAH,superfamily_PAH pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 tier1 - - 63 0 0.00 72 5 6.49 SLC16A14 0 genome.wustl.edu 37 2 230910801 230910801 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 2 230910801 230910801 C T SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known silent c.1041 p.S347 0.293 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 94 0 0.00 68 4 5.56 SLC20A2 0 genome.wustl.edu 37 8 42329774 42329774 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 8 42329774 42329774 C T SNP SLC20A2 ENST00000342228 human ensembl 74_37 -1 known silent c.135 p.R45 1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC ENSG00000168575 59 0 0.00 73 4 5.06 SLC7A14 0 genome.wustl.edu 37 3 170198523 170198523 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 3 170198523 170198523 C T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.1548 p.M516I 1.000 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 tier1 - - 39 0 0.00 344 21 5.75 SLC8A2 0 genome.wustl.edu 37 19 47935592 47935592 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 19 47935592 47935592 G A SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.2221 p.P741S 1.000 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 72 0 0.00 76 4 5.00 SLX4IP 0 genome.wustl.edu 37 20 10579382 10579382 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 20 10579382 10579382 A G SNP SLX4IP ENST00000334534 human ensembl 74_37 +1 known missense c.298 p.R100G 0.000 NULL NULL - no_errors SLX4IP HGNC ENSG00000149346 tier1 - - 60 0 0.00 66 13 16.46 SMC1B 0 genome.wustl.edu 37 22 45809379 45809379 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 22 45809379 45809379 A G SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known missense c.70 p.F24L 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 18 0 0.00 36 4 9.76 SMEK2 0 genome.wustl.edu 37 2 55825825 55825825 + Missense_Mutation SNP A A T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 2 55825825 55825825 A T SNP SMEK2 ENST00000272313 human ensembl 74_37 -1 known missense c.648 p.D216E 1.000 pfam_DUF625,superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 75 0 0.00 67 4 5.63 SNAP91 0 genome.wustl.edu 37 6 84269886 84269886 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 6 84269886 84269886 C T SNP SNAP91 ENST00000369694 human ensembl 74_37 -1 known silent c.2568 p.P856 0.003 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 tier1 - - 46 0 0.00 72 4 5.26 SORCS3 0 genome.wustl.edu 37 10 107015536 107015536 + Missense_Mutation SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 10 107015536 107015536 T C SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.3314 p.V1105A 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 78 0 0.00 56 4 6.67 SPCS3 0 genome.wustl.edu 37 4 177248294 177248294 + RNA SNP A A C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 4 177248294 177248294 A C SNP SPCS3 ENST00000507001 human ensembl 74_37 +1 putative rna NULL NULL 0.997 - - - no_errors SPCS3 HGNC ENSG00000129128 tier1 - - 69 0 0.00 36 17 32.08 SPIRE2 0 genome.wustl.edu 37 16 89924827 89924827 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 16 89924827 89924827 A G SNP SPIRE2 ENST00000378247 human ensembl 74_37 +1 known missense c.1184 p.D395G 0.107 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC ENSG00000204991 tier1 - - 86 0 0.00 79 13 14.13 SRPX 0 genome.wustl.edu 37 X 38079995 38079995 + Silent SNP C C A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc X 38079995 38079995 C A SNP SRPX ENST00000378533 human ensembl 74_37 -1 known silent c.51 p.L17 0.004 NULL pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 25 0 0.00 22 4 15.38 SRPX 0 genome.wustl.edu 37 X 38079996 38079996 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc X 38079996 38079996 A G SNP SRPX ENST00000378533 human ensembl 74_37 -1 known missense c.50 p.L17P 0.000 NULL pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 25 0 0.00 22 4 15.38 STAB1 0 genome.wustl.edu 37 3 52544055 52544055 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 3 52544055 52544055 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known silent c.2517 p.S839 0.053 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 79 0 0.00 60 4 6.25 SUV420H1 0 genome.wustl.edu 37 11 67926519 67926519 + Missense_Mutation SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 11 67926519 67926519 T C SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.1294 p.I432V 0.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 25 0 0.00 45 5 10.00 SYK 0 genome.wustl.edu 37 9 93627351 93627351 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 9 93627351 93627351 G A SNP SYK ENST00000375746 human ensembl 74_37 +1 known missense c.818 p.R273H 0.017 pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 tier1 rs139520862 - 71 0 0.00 57 4 6.56 TBC1D4 0 genome.wustl.edu 37 13 76055775 76055775 + Frame_Shift_Del DEL C C - TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 13 76055775 76055775 C - DEL TBC1D4 ENST00000377636 human ensembl 74_37 -1 known frame_shift_del c.129 p.S44fs 1.000 smart_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 tier1 48 0 0.00 21 16 43.24 TEP1 0 genome.wustl.edu 37 14 20844365 20844365 + Silent SNP T T C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 14 20844365 20844365 T C SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known silent c.6147 p.E2049 0.002 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 tier1 - - 35 0 0.00 33 8 19.51 THSD4 0 genome.wustl.edu 37 15 72063512 72063512 + Missense_Mutation SNP A A G TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 15 72063512 72063512 A G SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.2879 p.E960G 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 tier1 - - 113 0 0.00 89 27 23.28 TNKS2 0 genome.wustl.edu 37 10 93614825 93614825 + Missense_Mutation SNP G G C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 10 93614825 93614825 G C SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known missense c.2855 p.G952A 1.000 NULL pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 58 0 0.00 57 4 6.45 TNXB 0 genome.wustl.edu 37 6 32024678 32024678 + Missense_Mutation SNP C C A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 6 32024678 32024678 C A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.7828 p.D2610Y 0.032 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 96 0 0.00 73 16 17.78 TOPBP1 0 genome.wustl.edu 37 3 133320154 133320154 + Missense_Mutation SNP T T A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 3 133320154 133320154 T A SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.4509 p.L1503F 0.804 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 tier1 - - 97 0 0.00 75 22 22.68 TP53 0 genome.wustl.edu 37 17 7576897 7576897 + Nonsense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 17 7576897 7576897 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.949 p.Q317* 0.012 NULL 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 tier1 - - 103 0 0.00 51 41 44.57 TRIM71 0 genome.wustl.edu 37 3 32859629 32859629 + Silent SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 3 32859629 32859629 C T SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known silent c.57 p.C19 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 32 0 0.00 30 2 6.25 TSTD2 0 genome.wustl.edu 37 9 100388272 100388272 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 9 100388272 100388272 G A SNP TSTD2 ENST00000341170 human ensembl 74_37 -1 known missense c.173 p.A58V 1.000 NULL pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TSTD2 HGNC ENSG00000136925 44 0 0.00 32 2 5.88 ULK1 0 genome.wustl.edu 37 12 132405711 132405711 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 132405711 132405711 G T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.3028 p.A1010S 1.000 pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 tier1 - - 18 0 0.00 16 5 23.81 ULK1 0 genome.wustl.edu 37 12 132405712 132405712 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 132405712 132405712 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.3029 p.A1010V 0.999 pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 tier1 - - 17 0 0.00 17 5 22.73 VARS2 0 genome.wustl.edu 37 6 30892146 30892146 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 6 30892146 30892146 G A SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known missense c.2572 p.V858M 0.074 pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 40 0 0.00 39 3 7.14 VPS4A 0 genome.wustl.edu 37 16 69353364 69353364 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 16 69353364 69353364 G A SNP VPS4A ENST00000254950 human ensembl 74_37 +1 known missense c.538 p.V180M 1.000 pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 tier1 - - 61 0 0.00 64 4 5.88 WDR47 0 genome.wustl.edu 37 1 109566072 109566072 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 109566072 109566072 G T SNP WDR47 ENST00000400794 human ensembl 74_37 -1 known missense c.63 p.F21L 0.998 smart_LisH_dimerisation,pfscan_LisH_dimerisation pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 tier1 - - 51 0 0.00 43 4 8.51 ZC3H12A 0 genome.wustl.edu 37 1 37948688 37948688 + Missense_Mutation SNP G G C TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 1 37948688 37948688 G C SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known missense c.1276 p.D426H 0.010 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 tier1 - - 180 0 0.00 134 10 6.94 ZNF214 0 genome.wustl.edu 37 11 7022088 7022088 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 11 7022088 7022088 C T SNP ZNF214 ENST00000278314 human ensembl 74_37 -1 known missense c.826 p.G276R 0.001 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 ZNF214 HGNC ENSG00000149050 26 0 0.00 11 2 15.38 ZNF217 0 genome.wustl.edu 37 20 52193541 52193541 + Missense_Mutation SNP C C T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 20 52193541 52193541 C T SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known missense c.1762 p.G588S 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 tier1 - - 71 0 0.00 76 4 5.00 ZNF664 0 genome.wustl.edu 37 12 124496969 124496969 + Missense_Mutation SNP G G A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 12 124496969 124496969 G A SNP ZNF664 ENST00000337815 human ensembl 74_37 +1 known missense c.278 p.G93D 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF664 HGNC ENSG00000179195 46 0 0.00 52 4 7.14 ZNF804B 0 genome.wustl.edu 37 7 88963404 88963404 + Missense_Mutation SNP C C A TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 7 88963404 88963404 C A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.1108 p.P370T 0.002 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 41 0 0.00 64 6 8.57 ZNF90 0 genome.wustl.edu 37 19 20190747 20190747 + RNA DEL T T - TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 95411ce0-7179-4a2d-898b-61c3a34914a5 bdec0424-10f1-43a6-85ce-175c9db002fc 19 20190747 20190747 T - DEL ZNF90 ENST00000492328 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF90 HGNC ENSG00000213988 tier1 18 0 0.00 21 4 16.00