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 MYT1L 23040 genome.wustl.edu 36 2 1885981 1885981 + Missense_Mutation SNP T T C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 2 1885981 1885981 T C SNP MYT1L NM_015025 human genbank 54_36p -1 validated missense c.1904 p.E635G 1.000 HMMPfam_MYT1 superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1,PatternScan_EF_HAND_1 - no_errors MYT1L 23040 genome.wustl.edu 36 2 1905521 1905521 + Missense_Mutation SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 2 1905521 1905521 C T SNP MYT1L NM_015025 human genbank 54_36p -1 validated missense c.1027 p.E343K 1.000 NULL HMMPfam_zf-C2HC,HMMPfam_MYT1,PatternScan_EF_HAND_1,superfamily_SSF103637 - no_errors ASPA 443 genome.wustl.edu 36 17 3326399 3326399 + Missense_Mutation SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 17 3326399 3326399 G T SNP ASPA NM_000049 human genbank 54_36p +1 reviewed missense c.196 p.D66Y 1.000 HMMPfam_AstE_AspA HMMPfam_AstE_AspA - no_errors DFFB 1677 genome.wustl.edu 36 1 3778958 3778958 + Missense_Mutation SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 3778958 3778958 G T SNP DFFB NM_004402 human genbank 54_36p +1 reviewed missense c.744 p.E248D 1.000 superfamily_His-Me finger endonucleases,HMMPfam_DFF40 superfamily_CAD PB1 domains,HMMPfam_CIDE-N,HMMSmart_SM00266,superfamily_His-Me finger endonucleases,HMMPfam_DFF40 - no_errors LTBR 4055 genome.wustl.edu 36 12 6364774 6364774 + Missense_Mutation SNP A A T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 12 6364774 6364774 A T SNP LTBR NM_002342 human genbank 54_36p +1 reviewed missense c.440 p.D147V 0.015 superfamily_SSF57586,HMMSmart_TNFR superfamily_SSF57586,HMMPfam_TNFR_c6,HMMSmart_TNFR,PatternScan_TNFR_NGFR_1 - no_errors TRIP10 9322 genome.wustl.edu 36 19 6701556 6701556 + Missense_Mutation SNP C A A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 19 6701556 6701556 C A SNP TRIP10 NM_004240 human genbank 54_36p +1 validated missense c.1401 p.D467E 0.475 superfamily_SH3-domain HMMPfam_FCH,HMMSmart_SM00055,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_errors FXR2 9513 genome.wustl.edu 36 17 7448070 7448070 + Silent SNP C T T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 17 7448070 7448070 C T SNP FXR2 ENST00000250113 human ensembl 54_36p -1 known silent c.282 p.V94 1.000 HMMPfam_Agenet HMMPfam_Agenet,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7520253 7520253 + Nonsense_Mutation SNP C T T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 17 7520253 7520253 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.159 p.W53* 0.002 NULL HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors CAMTA1 23261 genome.wustl.edu 36 1 7623122 7623122 + Missense_Mutation SNP C C A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 7623122 7623122 C A SNP CAMTA1 NM_015215 human genbank 54_36p +1 validated missense c.586 p.L196I 1.000 NULL HMMPfam_CG-1,superfamily_E set domains,HMMPfam_TIG,superfamily_Ankyrin repeat,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IQ - no_errors PIK3R5 23533 genome.wustl.edu 36 17 8733187 8733187 + Missense_Mutation SNP T T C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 17 8733187 8733187 T C SNP PIK3R5 NM_014308 human genbank 54_36p -1 validated missense c.889 p.S297G 1.000 HMMPfam_PI3K_1B_p101 HMMPfam_PI3K_1B_p101 - no_errors C20orf103 24141 genome.wustl.edu 36 20 9458367 9458367 + Missense_Mutation SNP T T A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 20 9458367 9458367 T A SNP C20orf103 NM_012261 human genbank 54_36p +1 validated missense c.743 p.V248D 1.000 HMMPfam_Lamp HMMPfam_Lamp,PatternScan_LAMP_1 - no_errors GCM2 9247 genome.wustl.edu 36 6 10983036 10983036 + Silent SNP A A T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 6 10983036 10983036 A T SNP GCM2 NM_004752 human genbank 54_36p -1 reviewed silent c.699 p.P233 0.771 NULL superfamily_GCM_motif,HMMPfam_GCM - no_errors RUNDC2A 84127 genome.wustl.edu 36 16 12053469 12053469 + Missense_Mutation SNP A A G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 16 12053469 12053469 A G SNP RUNDC2A NM_032167 human genbank 54_36p +1 validated missense c.1013 p.Q338R 0.991 NULL HMMPfam_RUN,HMMSmart_SM00593 - no_errors SPIRE1 56907 genome.wustl.edu 36 18 12443137 12443137 + Missense_Mutation SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 18 12443137 12443137 G T SNP SPIRE1 NM_020148 human genbank 54_36p -1 validated missense c.1258 p.L420I 1.000 superfamily_FYVE_PHD_ZnF superfamily_FYVE_PHD_ZnF - no_errors MYOCD 93649 genome.wustl.edu 36 17 12597330 12597330 + Missense_Mutation SNP C A A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 17 12597330 12597330 C A SNP MYOCD NM_153604 human genbank 54_36p +1 provisional missense c.2000 p.A667D 0.108 NULL HMMSmart_SM00707,superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513 - no_errors FARSA 2193 genome.wustl.edu 36 19 12894679 12894679 + Silent SNP G G C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 19 12894679 12894679 G C SNP FARSA NM_004461 human genbank 54_36p -1 validated silent c.1410 p.G470 1.000 superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2d "superfamily_""Winged helix"" DNA-binding domain,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2d" - no_errors C18orf1 753 genome.wustl.edu 36 18 13428331 13428331 + Missense_Mutation SNP C C G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 18 13428331 13428331 C G SNP C18orf1 NM_181481 human genbank 54_36p +1 validated missense c.129 p.D43E 1.000 superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1 superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1 - no_errors SLC1A6 6511 genome.wustl.edu 36 19 14924751 14924751 + Silent SNP C A A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 19 14924751 14924751 C A SNP SLC1A6 NM_005071 human genbank 54_36p -1 provisional silent c.1488 p.V496 1.000 HMMPfam_SDF HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2 - no_errors C20orf23 55614 genome.wustl.edu 36 20 16296419 16296419 + Missense_Mutation SNP C C A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 20 16296419 16296419 C A SNP C20orf23 ENST00000408042 human ensembl 54_36p -1 known missense c.3551 p.C1184F 0.000 NULL HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,PatternScan_LECTIN_LEGUME_BETA,superfamily_SMAD_FHA,HMMSmart_FHA,HMMPfam_FHA - no_errors AHR 196 genome.wustl.edu 36 7 17316129 17316129 + Missense_Mutation SNP A A C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 7 17316129 17316129 A C SNP AHR NM_001621 human genbank 54_36p +1 reviewed missense c.110 p.K37T 1.000 HMMSmart_SM00353,HMMPfam_HLH HMMSmart_SM00353,HMMPfam_HLH,HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3,HMMSmart_SM00086 - no_errors BEND2 139105 genome.wustl.edu 36 X 18144737 18144737 + Missense_Mutation SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee X 18144737 18144737 G T SNP BEND2 NM_153346 human genbank 54_36p -1 validated missense c.63 p.N21K 0.000 NULL HMMPfam_BEN - no_errors RNF112 7732 genome.wustl.edu 36 17 19256497 19256497 + Missense_Mutation SNP G G C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 17 19256497 19256497 G C SNP RNF112 ENST00000299604 human ensembl 54_36p +1 known missense c.189 p.R63S 0.006 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP - no_errors SERPIND1 3053 genome.wustl.edu 36 22 19464129 19464129 + Missense_Mutation SNP G G C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 22 19464129 19464129 G C SNP SERPIND1 NM_000185 human genbank 54_36p +1 reviewed missense c.529 p.V177L 0.964 superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093 PatternScan_TONB_DEPENDENT_REC_1,superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN - no_errors IMAA 387254 genome.wustl.edu 36 16 21439018 21439018 + RNA SNP G A A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 16 21439018 21439018 G A SNP IMAA NR_002594 human genbank 54_36p -1 predicted rna NULL NULL 1.000 - - - pseudogene LOC100132820 0 genome.wustl.edu 36 17 21828266 21828266 + Missense_Mutation SNP T T G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 17 21828266 21828266 T G SNP LOC100132820 XM_001716790 human genbank 54_36p +1 model missense c.2 p.M1R 0.000 NULL NULL - no_errors OCA2 4948 genome.wustl.edu 36 15 25933636 25933636 + Nonsense_Mutation SNP G A A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 15 25933636 25933636 G A SNP OCA2 NM_000275 human genbank 54_36p -1 reviewed nonsense c.925 p.Q309* 0.998 NULL HMMPfam_CitMHS - no_errors SLC17A2 10246 genome.wustl.edu 36 6 26029461 26029461 + Silent SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 6 26029461 26029461 G T SNP SLC17A2 NM_005835 human genbank 54_36p -1 provisional silent c.399 p.T133 0.999 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 - no_errors PTCHD3 374308 genome.wustl.edu 36 10 27732193 27732193 + Silent SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 10 27732193 27732193 C T SNP PTCHD3 NM_001034842 human genbank 54_36p -1 validated silent c.1311 p.G437 0.971 HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain - no_errors PTCHD3 374308 genome.wustl.edu 36 10 27732279 27732279 + Silent SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 10 27732279 27732279 G T SNP PTCHD3 NM_001034842 human genbank 54_36p -1 validated silent c.1225 p.R409 0.002 HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain - no_errors TMEM98 26022 genome.wustl.edu 36 17 28284359 28284359 + Missense_Mutation SNP A A C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 17 28284359 28284359 A C SNP TMEM98 NM_001033504 human genbank 54_36p +1 validated missense c.186 p.L62F 0.999 NULL NULL - no_errors OR10C1 442194 genome.wustl.edu 36 6 29515883 29515883 + Missense_Mutation SNP G G C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 6 29515883 29515883 G C SNP OR10C1 NM_013941 human genbank 54_36p +1 provisional missense c.112 p.V38L 0.001 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors KCNA4 3739 genome.wustl.edu 36 11 29989976 29989976 + Missense_Mutation SNP C C A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 11 29989976 29989976 C A SNP KCNA4 NM_002233 human genbank 54_36p -1 reviewed missense c.826 p.V276L 1.000 HMMSmart_SM00225 HMMPfam_K_channel_TID,superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors FBXL19 54620 genome.wustl.edu 36 16 30849066 30849066 + Missense_Mutation SNP C C G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 16 30849066 30849066 C G SNP FBXL19 NM_001099784 human genbank 54_36p +1 provisional missense c.1021 p.L341V 0.971 NULL HMMPfam_zf-CXXC,HMMSmart_SM00249,PatternScan_ZF_PHD_1,HMMSmart_SM00256,HMMPfam_F-box,superfamily_RNI-like,HMMSmart_SM00367 - no_errors LOC100128783 0 genome.wustl.edu 36 5 31229629 31229629 + Missense_Mutation SNP C G G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 5 31229629 31229629 C G SNP LOC100128783 XM_001717030 human genbank 54_36p +1 model missense c.131 p.A44G 1.000 NULL NULL - no_errors DENND5B 160518 genome.wustl.edu 36 12 31431983 31431983 + Missense_Mutation SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 12 31431983 31431983 G A SNP DENND5B NM_144973 human genbank 54_36p -1 validated missense c.3646 p.R1216C 1.000 HMMSmart_SM00593 HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_RUN,HMMSmart_SM00593,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT - no_errors C2 717 genome.wustl.edu 36 6 32013126 32013126 + Missense_Mutation SNP A A G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 6 32013126 32013126 A G SNP C2 NM_000063 human genbank 54_36p +1 reviewed missense c.1040 p.Y347C 0.077 superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA superfamily_Complement control module/SCR domain,HMMSmart_SM00032,HMMPfam_Sushi,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors PFDN6 10471 genome.wustl.edu 36 6 33372588 33372588 + Missense_Mutation SNP C C G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 6 33372588 33372588 C G SNP PFDN6 ENST00000395134 human ensembl 54_36p +1 known missense c.265 p.L89V 0.037 HMMPfam_Prefoldin_2 superfamily_Prefoldin,HMMPfam_Prefoldin_2 - no_errors ZSCAN20 7579 genome.wustl.edu 36 1 33727705 33727705 + Nonsense_Mutation SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 33727705 33727705 G T SNP ZSCAN20 NM_145238 human genbank 54_36p +1 validated nonsense c.682 p.E228* 0.956 NULL HMMPfam_SCAN,HMMSmart_SM00431,HMMSmart_SM00717,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors NR1D1 9572 genome.wustl.edu 36 17 35509862 35509862 + Silent SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 17 35509862 35509862 C T SNP NR1D1 NM_021724 human genbank 54_36p -1 provisional silent c.12 p.L4 0.997 NULL HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep - no_errors TESK1 7016 genome.wustl.edu 36 9 35596004 35596004 + Missense_Mutation SNP A A T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 9 35596004 35596004 A T SNP TESK1 NM_006285 human genbank 54_36p +1 reviewed missense c.243 p.Q81H 1.000 superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors EIF3L 51386 genome.wustl.edu 36 22 36603918 36603918 + Missense_Mutation SNP C C G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 22 36603918 36603918 C G SNP EIF3L NM_016091 human genbank 54_36p +1 validated missense c.1369 p.L457V 1.000 HMMPfam_Paf67 HMMPfam_Paf67 - no_errors ANKRD30A 91074 genome.wustl.edu 36 10 37526401 37526401 + Missense_Mutation SNP A A C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 10 37526401 37526401 A C SNP ANKRD30A NM_052997 human genbank 54_36p +1 validated missense c.2535 p.Q845H 0.002 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_ASP_PROTEASE - no_errors RPUSD2 27079 genome.wustl.edu 36 15 38651129 38651129 + Missense_Mutation SNP A A G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 15 38651129 38651129 A G SNP RPUSD2 NM_152260 human genbank 54_36p +1 provisional missense c.641 p.H214R 1.000 superfamily_PsdUridine_synth_cat_dom superfamily_PsdUridine_synth_cat_dom,HMMPfam_PseudoU_synth_2,PatternScan_PSI_RLU - no_errors FAM183B 340286 genome.wustl.edu 36 7 38692067 38692067 + Missense_Mutation SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 7 38692067 38692067 C T SNP FAM183B NM_001105282 human genbank 54_36p -1 validated missense c.64 p.E22K 0.989 NULL NULL - no_errors SLC4A1 6521 genome.wustl.edu 36 17 39686109 39686109 + Silent SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 17 39686109 39686109 G T SNP SLC4A1 NM_000342 human genbank 54_36p -1 reviewed silent c.2214 p.L738 0.996 HMMPfam_HCO3_cotransp superfamily_PTrfase/Anion_transptr,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp,PatternScan_ANION_EXCHANGER_1,PatternScan_ANION_EXCHANGER_2 - no_errors C19orf46 163183 genome.wustl.edu 36 19 41189298 41189298 + Missense_Mutation SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 19 41189298 41189298 G T SNP C19orf46 NM_001039876 human genbank 54_36p -1 validated missense c.734 p.T245K 0.973 NULL HMMPfam_KASH - no_errors SCRN2 90507 genome.wustl.edu 36 17 43270750 43270750 + Missense_Mutation SNP G C C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 17 43270750 43270750 G C SNP SCRN2 NM_138355 human genbank 54_36p -1 validated missense c.1004 p.T335S 1.000 NULL NULL - no_errors MGC42105 167359 genome.wustl.edu 36 5 43316124 43316124 + Missense_Mutation SNP A A T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 5 43316124 43316124 A T SNP MGC42105 NM_153361 human genbank 54_36p +1 provisional missense c.847 p.I283F 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors KIAA0467 23334 genome.wustl.edu 36 1 43680875 43680875 + Missense_Mutation SNP A A C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 43680875 43680875 A C SNP KIAA0467 NM_015284 human genbank 54_36p +1 predicted missense c.5453 p.K1818T 0.998 NULL NULL - no_errors POLD2 5425 genome.wustl.edu 36 7 44121451 44121451 + Missense_Mutation SNP T T C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 7 44121451 44121451 T C SNP POLD2 NM_006230 human genbank 54_36p -1 validated missense c.1217 p.N406S 1.000 HMMPfam_DNA_pol_E_B HMMPfam_DNA_pol_E_B - no_errors SLC6A9 6536 genome.wustl.edu 36 1 44240891 44240891 + Silent SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 44240891 44240891 C T SNP SLC6A9 NM_201649 human genbank 54_36p -1 validated silent c.957 p.T319 0.991 HMMPfam_SNF HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2 - no_errors uc002oly.1 0 genome.wustl.edu 36 19 44701447 44701447 + Missense_Mutation SNP A A T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 19 44701447 44701447 A T SNP uc002oly.1 ENST00000335426 human ensembl 54_36p +1 known missense c.953 p.H318L 0.997 NULL NULL - no_errors CSE1L 1434 genome.wustl.edu 36 20 47120217 47120217 + Missense_Mutation SNP G G C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 20 47120217 47120217 G C SNP CSE1L NM_001316 human genbank 54_36p +1 reviewed missense c.744 p.L248F 1.000 superfamily_ARM repeat,HMMPfam_Cse1 superfamily_ARM repeat,HMMPfam_IBN_N,HMMPfam_Cse1,HMMPfam_CAS_CSE1 - no_errors ZNF859P 0 genome.wustl.edu 36 1 50084412 50084412 + Missense_Mutation SNP C C A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 50084412 50084412 C A SNP ZNF859P ENST00000401053 human ensembl 54_36p +1 known missense c.1166 p.P389H 0.994 superfamily_C2H2 and C2HC zinc fingers superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_start_codon KIAA1370 56204 genome.wustl.edu 36 15 50689495 50689495 + Missense_Mutation SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 15 50689495 50689495 C T SNP KIAA1370 NM_019600 human genbank 54_36p -1 validated missense c.908 p.G303D 0.223 NULL NULL - no_errors MTMR4 9110 genome.wustl.edu 36 17 53936489 53936489 + Missense_Mutation SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 17 53936489 53936489 C T SNP MTMR4 NM_004687 human genbank 54_36p -1 validated missense c.1577 p.R526Q 1.000 superfamily_(Phosphotyrosine protein) phosphatases II superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger - no_errors FIP1L1 81608 genome.wustl.edu 36 4 53951501 53951501 + Missense_Mutation SNP C C G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 4 53951501 53951501 C G SNP FIP1L1 NM_030917 human genbank 54_36p +1 reviewed missense c.454 p.L152V 0.998 NULL HMMPfam_Fip1 - no_errors LHB 3972 genome.wustl.edu 36 19 54211284 54211284 + Silent SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 19 54211284 54211284 C T SNP LHB NM_000894 human genbank 54_36p -1 reviewed silent c.279 p.P93 0.481 HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501 HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501,PatternScan_GLYCO_HORMONE_BETA_1,PatternScan_GLYCO_HORMONE_BETA_2 - no_errors TMEM61 199964 genome.wustl.edu 36 1 55224493 55224493 + Missense_Mutation SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 55224493 55224493 G T SNP TMEM61 NM_182532 human genbank 54_36p +1 provisional missense c.151 p.A51S 0.013 NULL NULL - no_errors KLK3 354 genome.wustl.edu 36 19 56053340 56053340 + Silent SNP C C A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 19 56053340 56053340 C A SNP KLK3 NM_001648 human genbank 54_36p +1 reviewed silent c.450 p.T150 0.012 superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors ZNF160 90338 genome.wustl.edu 36 19 58264237 58264237 + Missense_Mutation SNP C C G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 19 58264237 58264237 C G SNP ZNF160 NM_001102603 human genbank 54_36p -1 reviewed missense c.1362 p.K454N 0.007 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors TLN2 83660 genome.wustl.edu 36 15 60898786 60898786 + Missense_Mutation SNP C C G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 15 60898786 60898786 C G SNP TLN2 NM_015059 human genbank 54_36p +1 reviewed missense c.6790 p.P2264A 0.997 NULL PatternScan_FERM_1,HMMSmart_B41,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,superfamily_Talin_cent,HMMPfam_Talin_middle,superfamily_SSF109885,HMMPfam_VBS,HMMSmart_ILWEQ,HMMPfam_I_LWEQ - no_errors ANK3 288 genome.wustl.edu 36 10 61538627 61538627 + Missense_Mutation SNP A A C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 10 61538627 61538627 A C SNP ANK3 NM_020987 human genbank 54_36p -1 reviewed missense c.3140 p.V1047G 1.000 HMMPfam_ZU5,HMMSmart_ZU5 superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_ZU5,HMMSmart_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death - no_errors DOCK7 85440 genome.wustl.edu 36 1 62892378 62892378 + Missense_Mutation SNP T T A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 62892378 62892378 T A SNP DOCK7 NM_033407 human genbank 54_36p -1 validated missense c.185 p.D62V 1.000 NULL HMMPfam_Ded_cyto - no_errors SGPP1 81537 genome.wustl.edu 36 14 63222851 63222851 + Missense_Mutation SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 14 63222851 63222851 G A SNP SGPP1 NM_030791 human genbank 54_36p -1 provisional missense c.1051 p.P351S 1.000 NULL superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014 - no_errors C17orf58 284018 genome.wustl.edu 36 17 63419684 63419684 + Missense_Mutation SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 17 63419684 63419684 C T SNP C17orf58 NM_181655 human genbank 54_36p -1 validated missense c.41 p.R14Q 1.000 superfamily_TIMP-like superfamily_TIMP-like - no_errors PHF3 23469 genome.wustl.edu 36 6 64452604 64452604 + Missense_Mutation SNP C C A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 6 64452604 64452604 C A SNP PHF3 NM_015153 human genbank 54_36p +1 provisional missense c.1022 p.S341Y 0.002 NULL superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Elongation factor TFIIS domain 2,HMMPfam_TFIIS_M,HMMSmart_SM00510,HMMPfam_SPOC - no_errors SPTBN2 6712 genome.wustl.edu 36 11 66217123 66217123 + Missense_Mutation SNP C C A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 11 66217123 66217123 C A SNP SPTBN2 NM_006946 human genbank 54_36p -1 validated missense c.4879 p.V1627L 1.000 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors NIP7 51388 genome.wustl.edu 36 16 67932985 67932985 + Missense_Mutation SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 16 67932985 67932985 C T SNP NIP7 NM_016101 human genbank 54_36p +1 validated missense c.472 p.P158S 1.000 HMMSmart_SM00359,superfamily_PUA domain-like superfamily_Pre-PUA domain,HMMSmart_SM00359,superfamily_PUA domain-like - no_errors IGHMBP2 3508 genome.wustl.edu 36 11 68460289 68460289 + Missense_Mutation SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 11 68460289 68460289 G A SNP IGHMBP2 NM_002180 human genbank 54_36p +1 reviewed missense c.1765 p.G589S 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMSmart_SM00382,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H,HMMSmart_SM00154 - no_errors CTNNA3 29119 genome.wustl.edu 36 10 68951646 68951646 + Missense_Mutation SNP T T A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 10 68951646 68951646 T A SNP CTNNA3 NM_013266 human genbank 54_36p -1 validated missense c.539 p.E180V 1.000 HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin - no_errors PTPRB 5787 genome.wustl.edu 36 12 69272520 69272520 + Missense_Mutation SNP C C G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 12 69272520 69272520 C G SNP PTPRB NM_001109754 human genbank 54_36p -1 reviewed missense c.1589 p.R530T 1.000 superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 superfamily_Ricin B-like lectins,HMMPfam_Ricin_B_lectin,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors MYO9A 4649 genome.wustl.edu 36 15 69959887 69959887 + Missense_Mutation SNP A A C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 15 69959887 69959887 A C SNP MYO9A NM_006901 human genbank 54_36p -1 validated missense c.5465 p.F1822C 0.967 NULL HMMPfam_RA,HMMSmart_SM00314,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors ZNF236 7776 genome.wustl.edu 36 18 72721154 72721154 + Missense_Mutation SNP A A T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 18 72721154 72721154 A T SNP ZNF236 NM_007345 human genbank 54_36p +1 validated missense c.1076 p.Q359L 1.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors TRPA1 8989 genome.wustl.edu 36 8 73121302 73121302 + Silent SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 8 73121302 73121302 G A SNP TRPA1 NM_007332 human genbank 54_36p -1 reviewed silent c.2061 p.N687 1.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_EF_HAND_1,HMMPfam_Ion_trans - no_errors C1orf173 127254 genome.wustl.edu 36 1 74887565 74887565 + Missense_Mutation SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 74887565 74887565 G A SNP C1orf173 NM_001002912 human genbank 54_36p -1 predicted missense c.46 p.L16F 1.000 NULL NULL - no_errors PMS2L3 5387 genome.wustl.edu 36 7 74983057 74983057 + Missense_Mutation SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 7 74983057 74983057 C T SNP PMS2L3 NM_005395 human genbank 54_36p -1 validated missense c.175 p.G59R 0.088 superfamily_Krueppel-associated_box,HMMSmart_KRAB superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c - no_errors SEC24C 9632 genome.wustl.edu 36 10 75181009 75181009 + Splice_Site SNP T T A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 10 75181009 75181009 T A SNP SEC24C NM_004922 human genbank 54_36p +1 reviewed splice_site c.308+2 e2+2 1.000 - - - no_errors CHCHD1 118487 genome.wustl.edu 36 10 75211902 75211902 + Silent SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 10 75211902 75211902 G A SNP CHCHD1 NM_203298 human genbank 54_36p +1 validated silent c.63 p.L21 0.998 HMMPfam_Coil_helix HMMPfam_Coil_helix - no_errors ADAMTS7 11173 genome.wustl.edu 36 15 76838856 76838856 + Missense_Mutation SNP C A A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 15 76838856 76838856 C A SNP ADAMTS7 NM_014272 human genbank 54_36p -1 reviewed missense c.5023 p.A1675S 0.002 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors RASGRF1 5923 genome.wustl.edu 36 15 77128973 77128973 + Missense_Mutation SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 15 77128973 77128973 G A SNP RASGRF1 NM_002891 human genbank 54_36p -1 reviewed missense c.544 p.L182F 0.990 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF - no_errors IFI44L 10964 genome.wustl.edu 36 1 78866324 78866324 + Missense_Mutation SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 78866324 78866324 C T SNP IFI44L NM_006820 human genbank 54_36p +1 validated missense c.19 p.R7C 0.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ANTXR2 118429 genome.wustl.edu 36 4 81159082 81159082 + Silent SNP T T A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 4 81159082 81159082 T A SNP ANTXR2 NM_058172 human genbank 54_36p -1 reviewed silent c.939 p.T313 0.997 HMMPfam_Anth_Ig superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Anth_Ig,HMMPfam_Ant_C - no_errors ANTXR2 118429 genome.wustl.edu 36 4 81212667 81212667 + Silent SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 4 81212667 81212667 G A SNP ANTXR2 NM_058172 human genbank 54_36p -1 reviewed silent c.72 p.L24 0.000 NULL HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Ant_C,HMMPfam_Anth_Ig,superfamily_vWA-like - no_errors RPS23 6228 genome.wustl.edu 36 5 81609905 81609905 + Silent SNP G A A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 5 81609905 81609905 G A SNP RPS23 ENST00000296674 human ensembl 54_36p -1 known silent c.90 p.A30 0.199 NULL HMMPfam_Ribosomal_S12,superfamily_Nucleic acid-binding proteins,PatternScan_RIBOSOMAL_S12 - no_start_codon PRKG2 5593 genome.wustl.edu 36 4 82250760 82250760 + Silent SNP C C A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 4 82250760 82250760 C A SNP PRKG2 NM_006259 human genbank 54_36p -1 provisional silent c.1806 p.G602 0.564 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X - no_errors NTRK3 4916 genome.wustl.edu 36 15 86479629 86479629 + Missense_Mutation SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 15 86479629 86479629 G A SNP NTRK3 NM_001012338 human genbank 54_36p -1 reviewed missense c.911 p.P304L 1.000 superfamily_Immunoglobulin HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMPfam_LRR_1,HMMSmart_SM00082,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II - no_errors WDR21C 138009 genome.wustl.edu 36 8 88954233 88954233 + Silent SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 8 88954233 88954233 G A SNP WDR21C NM_152418 human genbank 54_36p -1 validated silent c.1083 p.N361 0.003 superfamily_WD40_like PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 - no_errors HSP90B3P 343477 genome.wustl.edu 36 1 91881824 91881824 + Silent SNP A A G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 91881824 91881824 A G SNP HSP90B3P ENST00000370405 human ensembl 54_36p +1 known silent c.1263 p.A421 0.994 HMMPfam_HSP90,superfamily_SSF110942 HMMPfam_HSP90,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_SSF110942 - no_errors C1orf146 388649 genome.wustl.edu 36 1 92469582 92469582 + Missense_Mutation SNP A A T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 92469582 92469582 A T SNP C1orf146 NM_001012425 human genbank 54_36p +1 validated missense c.17 p.K6I 0.623 NULL NULL - no_errors SAMD9L 219285 genome.wustl.edu 36 7 92600545 92600545 + Missense_Mutation SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 7 92600545 92600545 C T SNP SAMD9L NM_152703 human genbank 54_36p -1 validated missense c.2676 p.M892I 1.000 NULL superfamily_SAM/Pointed domain - no_errors HEPHL1 341208 genome.wustl.edu 36 11 93394213 93394213 + Missense_Mutation SNP T T A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 11 93394213 93394213 T A SNP HEPHL1 NM_001098672 human genbank 54_36p +1 validated missense c.31 p.F11I 0.088 NULL superfamily_Cupredoxin,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase_2,PatternScan_MULTICOPPER_OXIDASE1,PatternScan_MULTICOPPER_OXIDASE2 - no_errors TRRAP 8295 genome.wustl.edu 36 7 98372746 98372746 + Missense_Mutation SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 7 98372746 98372746 G T SNP TRRAP NM_003496 human genbank 54_36p +1 validated missense c.4143 p.Q1381H 1.000 superfamily_ARM repeat superfamily_ARM repeat,PatternScan_COPPER_BLUE,superfamily_Protein prenylyltransferase,HMMPfam_FAT,superfamily_TPR-like,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC - no_errors LRRK1 79705 genome.wustl.edu 36 15 99382638 99382638 + Missense_Mutation SNP C C A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 15 99382638 99382638 C A SNP LRRK1 NM_024652 human genbank 54_36p +1 validated missense c.2175 p.N725K 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Miro superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Miro,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220 - no_errors CORO2A 7464 genome.wustl.edu 36 9 99959681 99959681 + Missense_Mutation SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 9 99959681 99959681 G A SNP CORO2A NM_003389 human genbank 54_36p -1 reviewed missense c.83 p.S28F 0.993 HMMPfam_DUF1899 HMMPfam_DUF1899,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_DUF1900,PatternScan_GLNA_1 - no_errors NXF2B 728343 genome.wustl.edu 36 X 101511225 101511225 + Missense_Mutation SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee X 101511225 101511225 G A SNP NXF2B NM_001099686 human genbank 54_36p -1 inferred missense c.322 p.P108S 0.000 NULL superfamily_SSF54928,HMMPfam_Tap-RNA_bind,superfamily_SSF52058,superfamily_SSF54427,HMMPfam_NTF2,superfamily_UBA_like,HMMSmart_TAP_C,HMMPfam_TAP_C - no_errors MMP27 64066 genome.wustl.edu 36 11 102072700 102072700 + Silent SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 11 102072700 102072700 G A SNP MMP27 NM_022122 human genbank 54_36p -1 reviewed silent c.696 p.A232 0.976 "HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M10" "HMMPfam_PG_binding_1,superfamily_PGBD-like,PatternScan_CYSTEINE_SWITCH,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120,PatternScan_HEMOPEXIN" - no_errors LRP12 29967 genome.wustl.edu 36 8 105579132 105579132 + Missense_Mutation SNP T T C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 8 105579132 105579132 T C SNP LRP12 NM_013437 human genbank 54_36p -1 reviewed missense c.824 p.Y275C 1.000 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1 - no_errors CELSR2 1952 genome.wustl.edu 36 1 109607361 109607361 + Missense_Mutation SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 109607361 109607361 G A SNP CELSR2 NM_001408 human genbank 54_36p +1 reviewed missense c.4783 p.A1595T 0.955 HMMSmart_EGF,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,superfamily_ConA_like_lec_gl PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF_CA,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,PatternScan_ASX_HYDROXYL,HMMSmart_TNFR,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMSmart_HormR,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2 - no_errors AMIGO1 57463 genome.wustl.edu 36 1 109851650 109851650 + Missense_Mutation SNP C C G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 109851650 109851650 C G SNP AMIGO1 NM_020703 human genbank 54_36p -1 validated missense c.1408 p.G470R 0.175 NULL superfamily_SSF52058,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig - no_errors DCX 1641 genome.wustl.edu 36 X 110530911 110530911 + Missense_Mutation SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee X 110530911 110530911 C T SNP DCX NM_000555 human genbank 54_36p -1 reviewed missense c.911 p.G304E 1.000 superfamily_Doublecortin (DC),HMMSmart_SM00537,HMMPfam_DCX superfamily_Doublecortin (DC),HMMSmart_SM00537,HMMPfam_DCX - no_errors SLC16A10 117247 genome.wustl.edu 36 6 111634611 111634611 + Missense_Mutation SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 6 111634611 111634611 G T SNP SLC16A10 NM_018593 human genbank 54_36p +1 validated missense c.1066 p.V356L 1.000 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 - no_errors NCAM1 4684 genome.wustl.edu 36 11 112638845 112638845 + Missense_Mutation SNP T T C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 11 112638845 112638845 T C SNP NCAM1 NM_001076682 human genbank 54_36p +1 validated missense c.2275 p.F759L 0.869 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CIT 11113 genome.wustl.edu 36 12 118624114 118624114 + Missense_Mutation SNP G G C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 12 118624114 118624114 G C SNP CIT NM_007174 human genbank 54_36p -1 validated missense c.5211 p.I1737M 1.000 HMMSmart_SM00036,HMMPfam_CNH superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C,PatternScan_CPSASE_2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00036,HMMPfam_CNH - no_errors ASTN2 23245 genome.wustl.edu 36 9 118777345 118777345 + Missense_Mutation SNP T T G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 9 118777345 118777345 T G SNP ASTN2 NM_198187 human genbank 54_36p -1 validated missense c.1852 p.T618P 1.000 NULL superfamily_EGF/Laminin,HMMSmart_SM00457,superfamily_Fibronectin type III,HMMPfam_fn3 - no_errors OASL 8638 genome.wustl.edu 36 12 119942989 119942989 + Nonsense_Mutation SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 12 119942989 119942989 G A SNP OASL NM_003733 human genbank 54_36p -1 validated nonsense c.1303 p.Q435* 1.000 superfamily_Ubiquitin-like,HMMSmart_SM00213 superfamily_Nucleotidyltransferase,PatternScan_25A_SYNTH_1,HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain,PatternScan_25A_SYNTH_2,HMMSmart_SM00213,superfamily_Ubiquitin-like,HMMPfam_ubiquitin - no_errors ADAM30 11085 genome.wustl.edu 36 1 120240008 120240008 + Missense_Mutation SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 120240008 120240008 C T SNP ADAM30 NM_021794 human genbank 54_36p -1 reviewed missense c.475 p.V159I 0.001 HMMPfam_Pep_M12B_propep "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,PatternScan_EGF_2" - no_errors C3orf1 51300 genome.wustl.edu 36 3 120702276 120702276 + Missense_Mutation SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 3 120702276 120702276 C T SNP C3orf1 NM_016589 human genbank 54_36p +1 validated missense c.239 p.T80M 0.012 NULL NULL - no_errors LRRC58 116064 genome.wustl.edu 36 3 121537427 121537427 + Silent SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 3 121537427 121537427 C T SNP LRRC58 NM_001099678 human genbank 54_36p -1 validated silent c.564 p.L188 1.000 superfamily_SSF52058,HMMPfam_LRR_1 superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP - no_errors GRIA3 2892 genome.wustl.edu 36 X 122366396 122366396 + Missense_Mutation SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee X 122366396 122366396 G T SNP GRIA3 NM_000828 human genbank 54_36p +1 reviewed missense c.1450 p.D484Y 1.000 HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors RC3H2 54542 genome.wustl.edu 36 9 124682225 124682225 + Silent SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 9 124682225 124682225 G A SNP RC3H2 NM_001100588 human genbank 54_36p -1 validated silent c.961 p.L321 1.000 NULL superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_CCCH zinc finger,HMMSmart_SM00356,HMMPfam_zf-CCCH - no_errors HEG1 57493 genome.wustl.edu 36 3 126203416 126203416 + Missense_Mutation SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 3 126203416 126203416 G T SNP HEG1 NM_020733 human genbank 54_36p -1 validated missense c.3487 p.L1163I 0.971 NULL superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2 - no_errors ALDH1L1 10840 genome.wustl.edu 36 3 127307334 127307334 + Missense_Mutation SNP C C A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 3 127307334 127307334 C A SNP ALDH1L1 NM_012190 human genbank 54_36p -1 reviewed missense c.2578 p.V860F 0.932 superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh PatternScan_PHOSPHOPANTETHEINE,HMMPfam_Formyl_trans_N,superfamily_formyl_transf,PatternScan_GART,superfamily_FMT_C_like,HMMPfam_Formyl_trans_C,superfamily_ACP_like,superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS - no_errors UGCGL1 56886 genome.wustl.edu 36 2 128617186 128617186 + Missense_Mutation SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 2 128617186 128617186 G A SNP UGCGL1 NM_020120 human genbank 54_36p +1 validated missense c.1768 p.V590I 1.000 NULL HMMPfam_UDP-g_GGTase,superfamily_Nucleotide-diphospho-sugar transferases - no_errors IGSF1 3547 genome.wustl.edu 36 X 130236324 130236324 + Missense_Mutation SNP G G C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee X 130236324 130236324 G C SNP IGSF1 NM_001555 human genbank 54_36p -1 validated missense c.3681 p.S1227R 1.000 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408 - no_errors PLXNA4 91584 genome.wustl.edu 36 7 131468444 131468444 + Silent SNP T T A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 7 131468444 131468444 T A SNP PLXNA4 NM_020911 human genbank 54_36p -1 validated silent c.5493 p.A1831 0.096 HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP - no_errors COL6A6 131873 genome.wustl.edu 36 3 131823359 131823359 + Missense_Mutation SNP C C A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 3 131823359 131823359 C A SNP COL6A6 NM_001102608 human genbank 54_36p +1 provisional missense c.4820 p.P1607H 0.990 HMMPfam_Collagen HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen - no_errors COL5A1 1289 genome.wustl.edu 36 9 136856294 136856294 + Missense_Mutation SNP C C G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 9 136856294 136856294 C G SNP COL5A1 NM_000093 human genbank 54_36p +1 reviewed missense c.4726 p.L1576V 0.975 NULL HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI - no_errors MSL2 55167 genome.wustl.edu 36 3 137353063 137353063 + Missense_Mutation SNP C C G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 3 137353063 137353063 C G SNP MSL2 NM_018133 human genbank 54_36p -1 validated missense c.1350 p.K450N 1.000 NULL PatternScan_ZF_RING_1,superfamily_SSF57850 - no_errors PCDHB18 54660 genome.wustl.edu 36 5 140595424 140595424 + Missense_Mutation SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 5 140595424 140595424 G A SNP PCDHB18 ENST00000274705 human ensembl 54_36p +1 known missense c.955 p.D319N 0.936 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA - no_errors SLITRK4 139065 genome.wustl.edu 36 X 142544771 142544771 + Missense_Mutation SNP A A G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee X 142544771 142544771 A G SNP SLITRK4 NM_173078 human genbank 54_36p -1 validated missense c.1820 p.I607T 1.000 NULL superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRNT - no_errors DRD5P2 0 genome.wustl.edu 36 1 147169930 147169930 + Silent SNP C C A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 147169930 147169930 C A SNP DRD5P2 ENST00000331689 human ensembl 54_36p +1 known silent c.345 p.V115 0.996 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_start_codon:no_stop_codon LOC100131974 0 genome.wustl.edu 36 1 147530230 147530230 + Silent SNP G G A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 147530230 147530230 G A SNP LOC100131974 XM_001723598 human genbank 54_36p -1 model silent c.210 p.D70 0.876 NULL NULL - no_errors S100A11 6282 genome.wustl.edu 36 1 150271850 150271850 + Missense_Mutation SNP A A T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 150271850 150271850 A T SNP S100A11 NM_005620 human genbank 54_36p -1 reviewed missense c.230 p.F77Y 1.000 superfamily_SSF47473,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1 superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1 - no_errors RHEB 6009 genome.wustl.edu 36 7 150812789 150812789 + Missense_Mutation SNP T T A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 7 150812789 150812789 T A SNP RHEB NM_005614 human genbank 54_36p -1 reviewed missense c.159 p.E53D 0.998 HMMSmart_RAS,superfamily_SSF52540,HMMPfam_Ras HMMSmart_RAS,superfamily_SSF52540,HMMPfam_Ras - no_errors UBAP2L 9898 genome.wustl.edu 36 1 152494820 152494820 + Missense_Mutation SNP A A G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 152494820 152494820 A G SNP UBAP2L NM_014847 human genbank 54_36p +1 validated missense c.2122 p.T708A 0.999 NULL HMMPfam_UBA,HMMSmart_SM00165 - no_errors FGA 2243 genome.wustl.edu 36 4 155725059 155725059 + Silent SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 4 155725059 155725059 G T SNP FGA NM_000508 human genbank 54_36p -1 reviewed silent c.2268 p.S756 0.910 superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C HMMPfam_Fib_alpha,superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN - no_errors ENSG00000208216 0 genome.wustl.edu 36 2 162123354 162123354 + RNA SNP T T A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 2 162123354 162123354 T A SNP ENSG00000208216 ENST00000385481 human ensembl 54_36p +1 novel rna NULL NULL 0.024 - - - pseudogene FMO4 2329 genome.wustl.edu 36 1 169570489 169570489 + Silent SNP A A G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 169570489 169570489 A G SNP FMO4 NM_002022 human genbank 54_36p +1 reviewed silent c.1143 p.T381 0.970 HMMPfam_FMO-like superfamily_FAD/NAD(P)-binding domain,HMMPfam_FMO-like - no_errors SH3PXD2B 285590 genome.wustl.edu 36 5 171698953 171698953 + Silent SNP C C A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 5 171698953 171698953 C A SNP SH3PXD2B NM_001017995 human genbank 54_36p -1 validated silent c.1761 p.L587 0.937 NULL superfamily_PX,HMMPfam_PX,HMMSmart_PX,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 - no_errors HRH2 3274 genome.wustl.edu 36 5 175042855 175042855 + Missense_Mutation SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 5 175042855 175042855 G T SNP HRH2 NM_022304 human genbank 54_36p +1 reviewed missense c.13 p.G5C 1.000 NULL superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PDE11A 50940 genome.wustl.edu 36 2 178393221 178393221 + Silent SNP A A G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 2 178393221 178393221 A G SNP PDE11A NM_016953 human genbank 54_36p -1 reviewed silent c.1548 p.P516 1.000 HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065,superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors DHX9 1660 genome.wustl.edu 36 1 181118923 181118923 + Missense_Mutation SNP A A G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 181118923 181118923 A G SNP DHX9 NM_001357 human genbank 54_36p +1 reviewed missense c.2941 p.N981D 1.000 HMMPfam_DUF1605 superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358,HMMSmart_SM00487,HMMPfam_DEAD,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605 - no_errors PRG4 10216 genome.wustl.edu 36 1 184542675 184542675 + Missense_Mutation SNP A A C novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 184542675 184542675 A C SNP PRG4 NM_005807 human genbank 54_36p +1 reviewed missense c.1201 p.T401P 0.297 NULL HMMSmart_SM00201,HMMPfam_Somatomedin_B,superfamily_Somatomedin B domain,PatternScan_SMB_1,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120,PatternScan_HEMOPEXIN - no_errors SORBS2 8470 genome.wustl.edu 36 4 186781509 186781509 + Nonsense_Mutation SNP T A A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 4 186781509 186781509 T A SNP SORBS2 NM_021069 human genbank 54_36p -1 reviewed nonsense c.2056 p.R686* 0.024 NULL HMMPfam_Sorb,HMMSmart_SM00459,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_errors OBSL1 23363 genome.wustl.edu 36 2 220140811 220140811 + Silent SNP C C T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 2 220140811 220140811 C T SNP OBSL1 NM_015311 human genbank 54_36p -1 provisional silent c.1407 p.P469 0.078 superfamily_SSF48726,HMMSmart_IG superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_ig,HMMPfam_fn3,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_V-set - no_errors NUP133 55746 genome.wustl.edu 36 1 227660665 227660665 + Missense_Mutation SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 227660665 227660665 G T SNP NUP133 NM_018230 human genbank 54_36p -1 reviewed missense c.2846 p.A949D 1.000 HMMPfam_Nup133 HMMPfam_Nup133_N,HMMPfam_Nup133 - no_errors TTC13 79573 genome.wustl.edu 36 1 229109290 229109290 + Missense_Mutation SNP C C G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 229109290 229109290 C G SNP TTC13 NM_024525 human genbank 54_36p -1 validated missense c.2567 p.C856S 1.000 NULL HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1,HMMPfam_TPR_2 - no_errors SP140 11262 genome.wustl.edu 36 2 230842900 230842900 + Missense_Mutation SNP T T A novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 2 230842900 230842900 T A SNP SP140 NM_007237 human genbank 54_36p +1 validated missense c.1432 p.C478S 0.000 NULL HMMPfam_Sp100,superfamily_SAND domain-like,HMMPfam_SAND,HMMSmart_SM00258,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain - no_errors SNORA14B 677802 genome.wustl.edu 36 1 233357836 233357836 + RNA SNP G G T novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 233357836 233357836 G T SNP SNORA14B NR_002956 human genbank 54_36p -1 reviewed rna NULL NULL 0.925 - - - no_errors MUC16 94025 genome.wustl.edu 36 19 8945558 8945573 + Frame_Shift_Del DEL TGTAGATGTGGGAACC TGTAGATGTGGGAACC - novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 TGTAGATGTGGGAACC TGTAGATGTGGGAACC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 19 8945558 8945573 TGTAGATGTGGGAACC - DEL MUC16 NM_024690 human genbank 54_36p -1 validated frame_shift_del c.7257_7242 p.V2415fs 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 NULL PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA (deletion:cds_exon[8943340,8952814]) no_errors MPHOSPH8 54737 genome.wustl.edu 36 13 19135171 19135209 + Splice_Site DEL TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG - novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 13 19135171 19135209 TTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTG - DEL MPHOSPH8 NM_017520 human genbank 54_36p +1 provisional splice_site_del c.1933-9_1933-1 e9-1 0.701:0.830:0.850:0.848:0.593:0.576:0.541:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.993:1.000:1.000:1.000:0.996:0.021:0.981:0.986:0.837:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.998:0.999:1.000:1.000 - - (deletion:intron[19133979,19135179], cds_exon[19135180,19135266]) no_errors LOC645294 645294 genome.wustl.edu 36 17 20598413 20598422 + RNA DEL TTGGCTACGA TTGGCTACGA - novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 TTGGCTACGA TTGGCTACGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 17 20598413 20598422 TTGGCTACGA - DEL LOC645294 XR_016910 human genbank 54_36p -1 model rna NULL NULL 0.846:0.909:0.918:0.917:0.931:0.951:0.952:0.956:0.965:0.983 - - (deletion:rna[20598053,20598488]) pseudogene STT3B 201595 genome.wustl.edu 36 3 31633426 31633449 + In_Frame_Del DEL TGTCTTTGCATTGCTGCAAGCTTA TGTCTTTGCATTGCTGCAAGCTTA - novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 TGTCTTTGCATTGCTGCAAGCTTA TGTCTTTGCATTGCTGCAAGCTTA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 3 31633426 31633449 TGTCTTTGCATTGCTGCAAGCTTA - DEL STT3B NM_178862 human genbank 54_36p +1 provisional in_frame_del c.978_1001 p.VFALLQAY327in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.944:0.973:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 HMMPfam_STT3 HMMPfam_STT3 (deletion:cds_exon[31633425,31633571]) no_errors ZFYVE19 84936 genome.wustl.edu 36 15 38887191 38887192 + Frame_Shift_Ins INS - - GGGGC novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 15 38887191 38887192 - GGGGC INS ZFYVE19 NM_001077268 human genbank 54_36p +1 validated frame_shift_ins c.112_113 p.A42fs 0.027:0.013 NULL HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger,HMMPfam_FYVE,PatternScan_2FE2S_FER_1 - no_errors TSPAN18 90139 genome.wustl.edu 36 11 44907299 44907318 + Frame_Shift_Del DEL CCAGTAGAGGGTATGGCCTG CCAGTAGAGGGTATGGCCTG - novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 CCAGTAGAGGGTATGGCCTG CCAGTAGAGGGTATGGCCTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 11 44907299 44907318 CCAGTAGAGGGTATGGCCTG - DEL TSPAN18 NM_130783 human genbank 54_36p +1 provisional frame_shift_del c.741_747 p.I247fs 1.000:1.000:1.000:1.000:1.000:0.995:0.776 HMMPfam_Tetraspannin HMMPfam_Tetraspannin,PatternScan_TM4_1,superfamily_Tetraspanin (deletion:cds_exon[44907258,44907305], utr_exon[44907306,44909459]) no_errors NCOA3 8202 genome.wustl.edu 36 20 45709360 45709384 + Frame_Shift_Del DEL GACAATCACCATCTTTTAACTCTAT GACAATCACCATCTTTTAACTCTAT - novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 GACAATCACCATCTTTTAACTCTAT GACAATCACCATCTTTTAACTCTAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 20 45709360 45709384 GACAATCACCATCTTTTAACTCTAT - DEL NCOA3 NM_181659 human genbank 54_36p +1 reviewed frame_shift_del c.3389_3413 p.Q1131fs 1.000:1.000:1.000:1.000:0.985:0.975:0.930:0.813:0.785:0.692:0.665:0.688:0.693:0.619:1.000:1.000:1.000:1.000:1.000:0.985:0.986:0.984:0.089:0.811:0.999 NULL superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_PAS,HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_SRC-1,superfamily_Nuclear receptor coactivator interlocking domain,HMMPfam_Nuc_rec_co-act,HMMPfam_DUF1518 (deletion:cds_exon[45709224,45709517]) no_errors SERPINB10 5273 genome.wustl.edu 36 18 59733714 59733715 + Splice_Site INS - - G novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 18 59733714 59733715 - G INS SERPINB10 ENST00000397996 human ensembl 54_36p +1 known splice_site_ins c.1-2_1 e1-1 0.318:0.323 - - - no_errors CALB2 794 genome.wustl.edu 36 16 69981254 69981277 + Frame_Shift_Del DEL CGAGCCCCCCATGTAAAGTGGGGA CGAGCCCCCCATGTAAAGTGGGGA - novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 CGAGCCCCCCATGTAAAGTGGGGA CGAGCCCCCCATGTAAAGTGGGGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 16 69981254 69981277 CGAGCCCCCCATGTAAAGTGGGGA - DEL CALB2 NM_001740 human genbank 54_36p +1 reviewed frame_shift_del c.801_816 p.S267fs 0.949:0.999:1.000:1.000:1.000:1.000:1.000:0.993:0.954:0.643:0.617:0.976:0.997:0.998:0.994:0.975 NULL superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1 (deletion:cds_exon[69981153,69981269], utr_exon[69981270,69981842]) no_errors UBR7 55148 genome.wustl.edu 36 14 92751343 92751373 + Frame_Shift_Del DEL TTGTTCTTTTTTGTGGGCTTATGCTGCACAA TTGTTCTTTTTTGTGGGCTTATGCTGCACAA - novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 TTGTTCTTTTTTGTGGGCTTATGCTGCACAA TTGTTCTTTTTTGTGGGCTTATGCTGCACAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 14 92751343 92751373 TTGTTCTTTTTTGTGGGCTTATGCTGCACAA - DEL UBR7 NM_175748 human genbank 54_36p +1 validated frame_shift_del c.564_594 p.C189fs 0.883:0.963:0.969:0.887:0.893:0.901:0.776:0.993:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.994:1.000:1.000:1.000:1.000:1.000:0.995:0.998:1.000:0.994:0.998:0.991:0.007 NULL PatternScan_ZF_PHD_1,HMMPfam_zf-UBR,HMMPfam_PHD,HMMSmart_PHD (deletion:cds_exon[92751275,92751380]) no_errors LOC100131733 0 genome.wustl.edu 36 12 107974809 107974810 + In_Frame_Ins INS - - CGGCGG novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 12 107974809 107974810 - CGGCGG INS LOC100131733 XM_001722340 human genbank 54_36p -1 model in_frame_ins c.190_189 p.63in_frame_insPP 0.000:0.000 NULL NULL - no_errors GRIA2 2891 genome.wustl.edu 36 4 158502192 158502192 + Frame_Shift_Del DEL A A - novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 4 158502192 158502192 A - DEL GRIA2 NM_000826 human genbank 54_36p +1 reviewed frame_shift_del c.2344 p.K782fs 1.000 superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan (deletion:cds_exon[158502140,158502254]) no_errors FCRLA 84824 genome.wustl.edu 36 1 159947771 159947778 + Frame_Shift_Del DEL TTCTCCAT TTCTCCAT - novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 TTCTCCAT TTCTCCAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 159947771 159947778 TTCTCCAT - DEL FCRLA NM_032738 human genbank 54_36p +1 validated frame_shift_del c.433_440 p.F145fs 0.037:0.084:0.087:0.080:0.076:0.058:0.044:0.008 superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig (deletion:cds_exon[159947622,159947888]) no_errors ENSG00000215809 0 genome.wustl.edu 36 1 234713402 234713417 + Frame_Shift_Del DEL ATTTGGTGCAAATGCC ATTTGGTGCAAATGCC - novel unknown TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 ATTTGGTGCAAATGCC ATTTGGTGCAAATGCC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c155ffc9-8a13-4c5c-bacd-fda1d8b07ca3 8ceff811-6278-4a0b-9abb-8640ba4e7fee 1 234713402 234713417 ATTTGGTGCAAATGCC - DEL ENSG00000215809 ENST00000359362 human ensembl 54_36p +1 known frame_shift_del c.315_330 p.G107fs 0.993:1.000:1.000:1.000:1.000:1.000:0.963:0.963:0.817:0.454:0.991:0.999:0.997:1.000:1.000:1.000 HMMPfam_Enolase_N,superfamily_SSF54826 HMMPfam_Enolase_N,superfamily_SSF54826,superfamily_SSF51604,HMMPfam_Enolase_C (deletion:cds_exon[234713088,234714254]) no_errors