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 PPAPDC2 403313 genome.wustl.edu 36 9 4653149 4653149 + Silent SNP C C G novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 9 4653149 4653149 C G SNP PPAPDC2 NM_203453 human genbank 54_36p +1 validated silent c.774 p.V258 1.000 superfamily_AcPase_VanPerase,HMMSmart_acidPPc,HMMPfam_PAP2 superfamily_AcPase_VanPerase,HMMSmart_acidPPc,HMMPfam_PAP2 - no_errors VWF 7450 genome.wustl.edu 36 12 5933023 5933023 + Splice_Site SNP T T G novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 12 5933023 5933023 T G SNP VWF NM_000552 human genbank 54_36p -1 reviewed splice_site c.7888-2 e47-2 0.967 - - - no_errors SLC25A23 79085 genome.wustl.edu 36 19 6407044 6407044 + Silent SNP T A A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 19 6407044 6407044 T A SNP SLC25A23 ENST00000264088 human ensembl 54_36p -1 known silent c.543 p.S181 0.000 NULL superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Mitoch_carrier,HMMPfam_Mito_carr - no_errors TP53 7157 genome.wustl.edu 36 17 7517830 7517830 + Missense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 17 7517830 7517830 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.833 p.P278L 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors NLRP10 338322 genome.wustl.edu 36 11 7938973 7938973 + Silent SNP C C T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 11 7938973 7938973 C T SNP NLRP10 NM_176821 human genbank 54_36p -1 reviewed silent c.762 p.L254 0.265 superfamily_SSF52540,HMMPfam_NACHT superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,superfamily_SSF52540,HMMPfam_NACHT - no_errors SLC2A3 6515 genome.wustl.edu 36 12 7975180 7975180 + Silent SNP C C T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 12 7975180 7975180 C T SNP SLC2A3 NM_006931 human genbank 54_36p -1 validated silent c.438 p.S146 0.910 superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2 superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1 - no_errors MRVI1 10335 genome.wustl.edu 36 11 10604605 10604605 + Missense_Mutation SNP C C G novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 11 10604605 10604605 C G SNP MRVI1 NM_001098579 human genbank 54_36p -1 reviewed missense c.825 p.E275D 0.116 NULL HMMPfam_MRVI1 - no_errors ZNF564 163050 genome.wustl.edu 36 19 12499047 12499047 + Missense_Mutation SNP G G C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 19 12499047 12499047 G C SNP ZNF564 NM_144976 human genbank 54_36p -1 validated missense c.875 p.S292C 0.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 - no_errors GUCY2C 2984 genome.wustl.edu 36 12 14718955 14718955 + Nonsense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 12 14718955 14718955 G A SNP GUCY2C NM_004963 human genbank 54_36p -1 validated nonsense c.955 p.R319* 0.000 superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1 - no_errors EMR2 30817 genome.wustl.edu 36 19 14723249 14723249 + Missense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 19 14723249 14723249 G A SNP EMR2 NM_013447 human genbank 54_36p -1 reviewed missense c.2023 p.R675C 0.020 HMMPfam_7tm_2 HMMSmart_SM00181,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors CUBN 8029 genome.wustl.edu 36 10 16917181 16917181 + Missense_Mutation SNP G G C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 10 16917181 16917181 G C SNP CUBN NM_001081 human genbank 54_36p -1 reviewed missense c.10200 p.H3400Q 0.788 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_2,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 - no_errors PEX26 55670 genome.wustl.edu 36 22 16947998 16947998 + Missense_Mutation SNP G G T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 22 16947998 16947998 G T SNP PEX26 NM_017929 human genbank 54_36p +1 reviewed missense c.788 p.C263F 1.000 HMMPfam_Pex26 HMMPfam_Pex26 - no_errors CUBN 8029 genome.wustl.edu 36 10 17191711 17191711 + Missense_Mutation SNP G G T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 10 17191711 17191711 G T SNP CUBN NM_001081 human genbank 54_36p -1 reviewed missense c.1045 p.L349I 0.036 superfamily_EGF/Laminin PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors LLGL1 3996 genome.wustl.edu 36 17 18082169 18082169 + Silent SNP C C T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 17 18082169 18082169 C T SNP LLGL1 NM_004140 human genbank 54_36p +1 reviewed silent c.1968 p.L656 1.000 NULL HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_LLGL,HMMPfam_WD40 - no_errors TUBA3C 7278 genome.wustl.edu 36 13 18649365 18649365 + Missense_Mutation SNP G G C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 13 18649365 18649365 G C SNP TUBA3C NM_006001 human genbank 54_36p -1 reviewed missense c.758 p.T253R 1.000 superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C - no_errors LOC643668 643668 genome.wustl.edu 36 12 18737878 18737878 + RNA SNP G G C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 12 18737878 18737878 G C SNP LOC643668 XR_016986 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene SYT17 51760 genome.wustl.edu 36 16 19143611 19143611 + Missense_Mutation SNP G G C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 16 19143611 19143611 G C SNP SYT17 NM_016524 human genbank 54_36p +1 validated missense c.1178 p.S393T 1.000 superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors SLC47A1 55244 genome.wustl.edu 36 17 19421378 19421378 + Silent SNP C C A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 17 19421378 19421378 C A SNP SLC47A1 NM_018242 human genbank 54_36p +1 validated silent c.1633 p.R545 0.003 NULL HMMPfam_MatE - no_errors PDILT 204474 genome.wustl.edu 36 16 20279469 20279469 + Nonsense_Mutation SNP A A T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 16 20279469 20279469 A T SNP PDILT NM_174924 human genbank 54_36p -1 provisional nonsense c.1428 p.Y476* 0.368 superfamily_Thiordxn-like_fd PatternScan_THIOREDOXIN_1,superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin,PatternScan_ER_TARGET - no_errors C14orf21 161424 genome.wustl.edu 36 14 23840761 23840761 + Missense_Mutation SNP C C G novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 14 23840761 23840761 C G SNP C14orf21 NM_174913 human genbank 54_36p +1 predicted missense c.801 p.D267E 1.000 superfamily_ARM-type_fold,HMMSmart_Pumilio superfamily_ARM-type_fold,HMMPfam_PUF,HMMSmart_Pumilio - no_errors SUZ12 23512 genome.wustl.edu 36 17 27346842 27346842 + Missense_Mutation SNP T T A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 17 27346842 27346842 T A SNP SUZ12 NM_015355 human genbank 54_36p +1 reviewed missense c.1742 p.V581E 1.000 HMMPfam_VEFS-Box HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_VEFS-Box - no_errors CHN2 1124 genome.wustl.edu 36 7 29404529 29404529 + Missense_Mutation SNP C C T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 7 29404529 29404529 C T SNP CHN2 ENST00000409350 human ensembl 54_36p +1 known missense c.143 p.S48F 1.000 NULL NULL - no_errors IL1RAPL1 11141 genome.wustl.edu 36 X 29848114 29848114 + Missense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 X 29848114 29848114 G A SNP IL1RAPL1 NM_014271 human genbank 54_36p +1 reviewed missense c.1039 p.V347I 0.999 superfamily_Immunoglobulin,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR - no_errors EPB41L1 2036 genome.wustl.edu 36 20 34245618 34245618 + Silent SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 20 34245618 34245618 G A SNP EPB41L1 NM_012156 human genbank 54_36p +1 reviewed silent c.1371 p.E457 0.990 NULL HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA,HMMPfam_SAB,HMMPfam_4_1_CTD - no_errors ZNF76 7629 genome.wustl.edu 36 6 35367425 35367425 + Silent SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 6 35367425 35367425 G A SNP ZNF76 NM_003427 human genbank 54_36p +1 provisional silent c.864 p.P288 0.685 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors C1orf216 127703 genome.wustl.edu 36 1 35953999 35953999 + Missense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 1 35953999 35953999 G A SNP C1orf216 NM_152374 human genbank 54_36p -1 predicted missense c.511 p.H171Y 1.000 NULL NULL - no_errors NIPBL 25836 genome.wustl.edu 36 5 37039134 37039134 + Missense_Mutation SNP A A C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 5 37039134 37039134 A C SNP NIPBL NM_133433 human genbank 54_36p +1 reviewed missense c.3783 p.K1261N 1.000 superfamily_ARM repeat superfamily_ARM repeat - no_errors RHPN2 85415 genome.wustl.edu 36 19 38204322 38204322 + Missense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 19 38204322 38204322 G A SNP RHPN2 NM_033103 human genbank 54_36p -1 provisional missense c.385 p.L129F 0.630 HMMPfam_BRO1 superfamily_PKN_effector,HMMSmart_Hr1,HMMPfam_HR1,HMMPfam_BRO1,superfamily_PDZ,HMMSmart_PDZ - no_errors CD300LG 146894 genome.wustl.edu 36 17 39281559 39281559 + Missense_Mutation SNP T T C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 17 39281559 39281559 T C SNP CD300LG NM_145273 human genbank 54_36p +1 provisional missense c.151 p.C51R 1.000 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409 - no_errors SLC25A38 54977 genome.wustl.edu 36 3 39400259 39400259 + Missense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 3 39400259 39400259 G A SNP SLC25A38 NM_017875 human genbank 54_36p +1 validated missense c.40 p.D14N 0.991 NULL superfamily_Mitoch_carrier,HMMPfam_Mito_carr - no_errors ELF1 1997 genome.wustl.edu 36 13 40406159 40406159 + Missense_Mutation SNP A A T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 13 40406159 40406159 A T SNP ELF1 NM_172373 human genbank 54_36p -1 reviewed missense c.1262 p.I421K 0.996 NULL superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2 - no_errors TTC33 23548 genome.wustl.edu 36 5 40752226 40752226 + Silent SNP T T C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 5 40752226 40752226 T C SNP TTC33 NM_012382 human genbank 54_36p -1 validated silent c.567 p.A189 0.000 NULL HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_TPR-like - no_errors PPHLN1 51535 genome.wustl.edu 36 12 41121391 41121391 + Missense_Mutation SNP G G T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 12 41121391 41121391 G T SNP PPHLN1 NM_016488 human genbank 54_36p +1 reviewed missense c.917 p.R306L 1.000 NULL NULL - no_errors BACE2 25825 genome.wustl.edu 36 21 41569392 41569392 + Missense_Mutation SNP T T C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 21 41569392 41569392 T C SNP BACE2 NM_012105 human genbank 54_36p +1 reviewed missense c.1528 p.S510P 1.000 NULL superfamily_Acid proteases,HMMPfam_Asp,PatternScan_ASP_PROTEASE - no_errors NR1H3 10062 genome.wustl.edu 36 11 47246798 47246798 + Missense_Mutation SNP C C G novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 11 47246798 47246798 C G SNP NR1H3 NM_005693 human genbank 54_36p +1 validated missense c.1319 p.S440C 0.999 superfamily_Nuclear receptor ligand-binding domain,HMMPfam_Hormone_recep HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_COPPER_BLUE,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep - no_errors ADNP 23394 genome.wustl.edu 36 20 48944056 48944056 + Missense_Mutation SNP C G G novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 20 48944056 48944056 C G SNP ADNP NM_015339 human genbank 54_36p -1 reviewed missense c.602 p.G201A 1.000 NULL PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox - no_errors LOC340970 340970 genome.wustl.edu 36 11 48964113 48964113 + RNA SNP A A G novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 11 48964113 48964113 A G SNP LOC340970 XR_042351 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene MIRN1300 0 genome.wustl.edu 36 15 51017865 51017865 + RNA SNP C C G novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 15 51017865 51017865 C G SNP MIRN1300 ENST00000408347 human ensembl 54_36p -1 known rna NULL NULL 1.000 - - - no_errors KRT4 3851 genome.wustl.edu 36 12 51493985 51493985 + Missense_Mutation SNP C C A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 12 51493985 51493985 C A SNP KRT4 NM_002272 human genbank 54_36p -1 reviewed missense c.347 p.C116F 0.976 NULL HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF - no_errors DKFZp564N2472 285877 genome.wustl.edu 36 7 53071742 53071742 + Missense_Mutation SNP G G T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 7 53071742 53071742 G T SNP DKFZp564N2472 NM_182595 human genbank 54_36p +1 validated missense c.884 p.G295V 0.009 NULL NULL - no_errors CCDC155 147872 genome.wustl.edu 36 19 54601979 54601979 + Missense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 19 54601979 54601979 G A SNP CCDC155 NM_144688 human genbank 54_36p +1 provisional missense c.823 p.D275N 0.499 NULL NULL - no_errors GPR32 2854 genome.wustl.edu 36 19 55966675 55966675 + Missense_Mutation SNP G G T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 19 55966675 55966675 G T SNP GPR32 NM_001506 human genbank 54_36p +1 provisional missense c.1006 p.A336S 0.804 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors GLI1 2735 genome.wustl.edu 36 12 56146321 56146321 + Missense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 12 56146321 56146321 G A SNP GLI1 NM_005269 human genbank 54_36p +1 reviewed missense c.794 p.R265Q 1.000 superfamily_SSF57667 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors VPS4B 9525 genome.wustl.edu 36 18 59229712 59229712 + Missense_Mutation SNP T T C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 18 59229712 59229712 T C SNP VPS4B NM_004869 human genbank 54_36p -1 reviewed missense c.107 p.H36R 0.998 HMMSmart_SM00745,HMMPfam_MIT HMMSmart_SM00745,HMMPfam_MIT,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,HMMPfam_Vps4_C - no_errors LOC100132529 0 genome.wustl.edu 36 16 70163483 70163483 + Missense_Mutation SNP C C T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 16 70163483 70163483 C T SNP LOC100132529 XM_001719539 human genbank 54_36p +1 model missense c.290 p.P97L 0.003 NULL NULL - no_errors CHRDL2 25884 genome.wustl.edu 36 11 74085961 74085961 + Missense_Mutation SNP C C G novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 11 74085961 74085961 C G SNP CHRDL2 NM_015424 human genbank 54_36p -1 validated missense c.1205 p.S402T 1.000 NULL HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1 - no_errors ANKRD17 26057 genome.wustl.edu 36 4 74187032 74187032 + Missense_Mutation SNP C C G novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 4 74187032 74187032 C G SNP ANKRD17 NM_032217 human genbank 54_36p -1 reviewed missense c.4498 p.E1500Q 1.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_MutS_V,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1 - no_errors LOC646127 0 genome.wustl.edu 36 X 74464076 74464076 + RNA SNP T T G novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 X 74464076 74464076 T G SNP LOC646127 XR_037591 human genbank 54_36p -1 model rna NULL NULL 0.799 - - - pseudogene OR2AT4 341152 genome.wustl.edu 36 11 74477691 74477691 + Missense_Mutation SNP C C T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 11 74477691 74477691 C T SNP OR2AT4 NM_001005285 human genbank 54_36p -1 provisional missense c.716 p.R239Q 0.002 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LY96 23643 genome.wustl.edu 36 8 75101614 75101614 + Missense_Mutation SNP G G C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 8 75101614 75101614 G C SNP LY96 NM_015364 human genbank 54_36p +1 validated missense c.368 p.G123A 0.748 HMMPfam_E1_DerP2_DerF2,HMMSmart_SM00737 HMMPfam_E1_DerP2_DerF2,HMMSmart_SM00737 - no_errors POU3F4 5456 genome.wustl.edu 36 X 82650038 82650038 + Missense_Mutation SNP T T A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 X 82650038 82650038 T A SNP POU3F4 NM_000307 human genbank 54_36p +1 reviewed missense c.50 p.L17Q 1.000 NULL HMMPfam_Pou,HMMSmart_POU,superfamily_Lambda_like_DNA,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors ME3 10873 genome.wustl.edu 36 11 85835168 85835168 + Missense_Mutation SNP T T C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 11 85835168 85835168 T C SNP ME3 NM_001014811 human genbank 54_36p -1 reviewed missense c.1390 p.I464V 1.000 HMMPfam_Malic_M,superfamily_NAD(P)-bd superfamily_SSF53223,HMMPfam_malic,PatternScan_MALIC_ENZYMES,HMMPfam_Malic_M,superfamily_NAD(P)-bd - no_errors GRID1 2894 genome.wustl.edu 36 10 87474409 87474409 + Missense_Mutation SNP G T T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 10 87474409 87474409 G T SNP GRID1 NM_017551 human genbank 54_36p -1 reviewed missense c.1538 p.A513E 1.000 HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II 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,PatternScan_ALDEHYDE_DEHYDR_GLU - no_errors TCF25 22980 genome.wustl.edu 36 16 88492710 88492710 + Missense_Mutation SNP C C G novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 16 88492710 88492710 C G SNP TCF25 NM_014972 human genbank 54_36p +1 validated missense c.1150 p.L384V 1.000 HMMPfam_DUF654 HMMPfam_DUF654 - no_errors SAMD9L 219285 genome.wustl.edu 36 7 92600018 92600018 + Missense_Mutation SNP T T C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 7 92600018 92600018 T C SNP SAMD9L NM_152703 human genbank 54_36p -1 validated missense c.3203 p.E1068G 0.313 NULL superfamily_SAM/Pointed domain - no_errors SERPINA2 390502 genome.wustl.edu 36 14 93902829 93902829 + RNA SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 14 93902829 93902829 G A SNP SERPINA2 XR_041183 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - no_errors JRKL 8690 genome.wustl.edu 36 11 95765007 95765007 + Missense_Mutation SNP A A C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 11 95765007 95765007 A C SNP JRKL NM_003772 human genbank 54_36p +1 reviewed missense c.1546 p.K516Q 1.000 NULL HMMPfam_CENP-B_N,superfamily_Homeodomain_like,HMMPfam_CenpB-DNA-bind,HMMSmart_CENPB,HMMPfam_DDE - no_errors MUC17 140453 genome.wustl.edu 36 7 100472757 100472757 + Silent SNP C C T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 7 100472757 100472757 C T SNP MUC17 NM_001040105 human genbank 54_36p +1 provisional silent c.11340 p.Y3780 0.153 NULL superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors RIMS2 9699 genome.wustl.edu 36 8 104778666 104778666 + Missense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 8 104778666 104778666 G A SNP RIMS2 NM_001100117 human genbank 54_36p +1 validated missense c.353 p.R118H 0.999 HMMPfam_RPH3A_effector,superfamily_FYVE/PHD zinc finger HMMPfam_RPH3A_effector,superfamily_FYVE/PHD zinc finger,superfamily_PDZ domain-like,HMMSmart_SM00228,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors COG5 10466 genome.wustl.edu 36 7 106725894 106725894 + Missense_Mutation SNP G G T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 7 106725894 106725894 G T SNP COG5 NM_006348 human genbank 54_36p -1 validated missense c.1335 p.D445E 0.960 NULL HMMPfam_COG5 - no_errors WNT2B 7482 genome.wustl.edu 36 1 112861476 112861476 + Missense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 1 112861476 112861476 G A SNP WNT2B NM_024494 human genbank 54_36p +1 reviewed missense c.892 p.D298N 1.000 HMMPfam_wnt,HMMSmart_SM00097 HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1 - no_errors MAGI3 260425 genome.wustl.edu 36 1 114025416 114025416 + Missense_Mutation SNP T T C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 1 114025416 114025416 T C SNP MAGI3 NM_152900 human genbank 54_36p +1 validated missense c.3263 p.I1088T 1.000 superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ superfamily_PDZ,HMMSmart_PDZ,HMMSmart_GuKc,superfamily_SSF52540,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,HMMPfam_PDZ - no_errors KSR2 283455 genome.wustl.edu 36 12 116391911 116391911 + Missense_Mutation SNP C G G novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 12 116391911 116391911 C G SNP KSR2 NM_173598 human genbank 54_36p -1 validated missense c.2422 p.E808Q 1.000 superfamily_Protein kinase-like (PK-like) superfamily_Cysteine-rich domain,HMMSmart_SM00109,HMMPfam_C1_1,PatternScan_ZF_DAG_PE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST - no_errors TAOK3 51347 genome.wustl.edu 36 12 117074514 117074514 + Silent SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 12 117074514 117074514 G A SNP TAOK3 NM_016281 human genbank 54_36p -1 validated silent c.2436 p.Y812 1.000 NULL superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors NKRF 55922 genome.wustl.edu 36 X 118608156 118608156 + Missense_Mutation SNP T T A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 X 118608156 118608156 T A SNP NKRF NM_017544 human genbank 54_36p -1 validated missense c.1260 p.K420N 0.783 NULL superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358,HMMSmart_SM00443,HMMPfam_G-patch,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H - no_errors SH2D1A 4068 genome.wustl.edu 36 X 123331751 123331751 + Silent SNP T T C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 X 123331751 123331751 T C SNP SH2D1A NM_002351 human genbank 54_36p +1 reviewed silent c.246 p.N82 1.000 superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2 superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2 - no_errors FAT4 79633 genome.wustl.edu 36 4 126591827 126591827 + Silent SNP C C T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 4 126591827 126591827 C T SNP FAT4 NM_024582 human genbank 54_36p +1 validated silent c.10206 p.P3402 0.540 HMMSmart_CA,superfamily_Cadherin superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_EGF - no_errors HTATSF1 27336 genome.wustl.edu 36 X 135420911 135420911 + Missense_Mutation SNP C C A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 X 135420911 135420911 C A SNP HTATSF1 NM_014500 human genbank 54_36p +1 provisional missense c.1341 p.N447K 0.844 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 - no_errors ZFAT 57623 genome.wustl.edu 36 8 135593941 135593941 + Missense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 8 135593941 135593941 G A SNP ZFAT NM_020863 human genbank 54_36p -1 validated missense c.3320 p.A1107V 0.998 NULL HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_SUGAR_TRANSPORT_1 - no_errors CAMSAP1 157922 genome.wustl.edu 36 9 137849665 137849665 + Missense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 9 137849665 137849665 G A SNP CAMSAP1 NM_015447 human genbank 54_36p -1 validated missense c.3416 p.S1139F 0.990 NULL superfamily_PRC-barrel domain,HMMPfam_DUF1781 - no_errors PCDHGA8 9708 genome.wustl.edu 36 5 140754717 140754717 + Missense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 5 140754717 140754717 G A SNP PCDHGA8 NM_032088 human genbank 54_36p +1 reviewed missense c.2153 p.R718H 0.445 NULL HMMSmart_SM00112,superfamily_Cadherin-like,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors CLCN1 1180 genome.wustl.edu 36 7 142723430 142723430 + Missense_Mutation SNP G G C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 7 142723430 142723430 G C SNP CLCN1 NM_000083 human genbank 54_36p +1 reviewed missense c.3 p.M1I 0.994 NULL superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS - no_errors KIAA1688 80728 genome.wustl.edu 36 8 145733964 145733964 + Nonsense_Mutation SNP T T A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 8 145733964 145733964 T A SNP KIAA1688 NM_025251 human genbank 54_36p -1 validated nonsense c.2563 p.K855* 1.000 HMMPfam_MyTH4 HMMSmart_SM00456,HMMPfam_WW,superfamily_WW domain,HMMSmart_SM00139,HMMPfam_MyTH4,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors FMR1NB 158521 genome.wustl.edu 36 X 146870818 146870818 + Silent SNP C C A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 X 146870818 146870818 C A SNP FMR1NB NM_152578 human genbank 54_36p +1 provisional silent c.204 p.P68 0.001 NULL NULL - no_errors HIST2H2AC 8338 genome.wustl.edu 36 1 148125414 148125414 + Missense_Mutation SNP G G C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 1 148125414 148125414 G C SNP HIST2H2AC NM_003517 human genbank 54_36p +1 reviewed missense c.266 p.R89P 1.000 superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone superfamily_Histone-fold,HMMSmart_SM00414,HMMPfam_Histone,PatternScan_HISTONE_H2A - no_errors ACVR2A 92 genome.wustl.edu 36 2 148394363 148394363 + Missense_Mutation SNP G G A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 2 148394363 148394363 G A SNP ACVR2A NM_001616 human genbank 54_36p +1 reviewed missense c.1057 p.A353T 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220 superfamily_Snake toxin-like,HMMPfam_Activin_recp,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST - no_errors GPR50 9248 genome.wustl.edu 36 X 150099764 150099764 + Missense_Mutation SNP C C T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 X 150099764 150099764 C T SNP GPR50 NM_004224 human genbank 54_36p +1 validated missense c.1051 p.R351C 0.137 NULL superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_TRYPSIN_HIS - no_errors CEP350 9857 genome.wustl.edu 36 1 178314278 178314278 + Missense_Mutation SNP G G C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 1 178314278 178314278 G C SNP CEP350 NM_014810 human genbank 54_36p +1 reviewed missense c.5822 p.S1941T 1.000 NULL superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1 - no_errors ST6GAL1 6480 genome.wustl.edu 36 3 188243224 188243224 + Silent SNP C C T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 3 188243224 188243224 C T SNP ST6GAL1 NM_003032 human genbank 54_36p +1 reviewed silent c.39 p.C13 0.006 NULL HMMPfam_Glyco_transf_29 - no_errors RNPEP 6051 genome.wustl.edu 36 1 200237415 200237415 + Nonsense_Mutation SNP T T A novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 1 200237415 200237415 T A SNP RNPEP NM_020216 human genbank 54_36p +1 validated nonsense c.1323 p.Y441* 0.996 superfamily_SSF55486 superfamily_SSF63737,HMMPfam_Peptidase_M1,superfamily_SSF55486,PatternScan_ZINC_PROTEASE,superfamily_ARM-type_fold,HMMPfam_Leuk-A4-hydro_C - no_errors RAPH1 65059 genome.wustl.edu 36 2 204062960 204062960 + Missense_Mutation SNP A A C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 2 204062960 204062960 A C SNP RAPH1 NM_213589 human genbank 54_36p -1 validated missense c.324 p.S108R 1.000 NULL HMMSmart_SM00314,HMMPfam_RA,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors ZDBF2 57683 genome.wustl.edu 36 2 206881585 206881585 + Missense_Mutation SNP G G T novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 2 206881585 206881585 G T SNP ZDBF2 NM_020923 human genbank 54_36p +1 validated missense c.4088 p.S1363I 0.011 NULL HMMPfam_zf-DBF - no_errors CPO 130749 genome.wustl.edu 36 2 207535455 207535455 + Missense_Mutation SNP G G C novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 2 207535455 207535455 G C SNP CPO NM_173077 human genbank 54_36p +1 validated missense c.649 p.A217P 0.982 superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14 PatternScan_CARBOXYPEPT_ZN_2,superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1 - no_errors ENSG00000217945 0 genome.wustl.edu 36 NT_113961 135726 135740 + In_Frame_Del DEL AAGATCCTGCTGTGA AAGATCCTGCTGTGA - novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 AAGATCCTGCTGTGA AAGATCCTGCTGTGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 NT_113961 135726 135740 AAGATCCTGCTGTGA - DEL ENSG00000217945 ENST00000402318 human ensembl 54_36p +1 novel in_frame_del c.1019_1033 p.DPAVK341in_frame_del NULL NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank (deletion:cds_exon[135710,135782]) no_start_codon ATP7B 540 genome.wustl.edu 36 13 51440722 51440733 + In_Frame_Del DEL GGCAACCAACAC GGCAACCAACAC - novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 GGCAACCAACAC GGCAACCAACAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 13 51440722 51440733 GGCAACCAACAC - DEL ATP7B NM_000053 human genbank 54_36p -1 reviewed in_frame_del c.1566_1555 p.VLVA519in_frame_del 0.993:0.993:1.000:0.994:0.607:0.998:1.000:1.000:1.000:0.998:0.997:1.000 superfamily_HMA heavy metal-associated domain,HMMPfam_HMA,PatternScan_HMA_1 superfamily_HMA heavy metal-associated domain,HMMPfam_HMA,PatternScan_HMA_1,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N (deletion:cds_exon[51440581,51440744]) no_errors PC 5091 genome.wustl.edu 36 11 66373829 66373831 + In_Frame_Del DEL CTT CTT - novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 CTT CTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 11 66373829 66373831 CTT - DEL PC NM_000920 human genbank 54_36p -1 reviewed in_frame_del c.2976_2974 p.K992in_frame_del 1.000:1.000:1.000 HMMPfam_PYC_OADA,superfamily_SSF89000 HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like,HMMPfam_CPSase_L_D2,superfamily_SSF56059,superfamily_Rudmnt_hyb_motif,HMMPfam_Biotin_carb_C,superfamily_SSF51569,HMMPfam_HMGL-like,HMMPfam_PYC_OADA,superfamily_SSF89000,superfamily_Hybrid_motif,HMMPfam_Biotin_lipoyl,PatternScan_BIOTIN (deletion:cds_exon[66373658,66373906]) no_errors PLXNA3 55558 genome.wustl.edu 36 X 153350427 153350439 + Frame_Shift_Del DEL TTGATGCCATCAC TTGATGCCATCAC - novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 TTGATGCCATCAC TTGATGCCATCAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 X 153350427 153350439 TTGATGCCATCAC - DEL PLXNA3 NM_017514 human genbank 54_36p +1 validated frame_shift_del c.4355_4367 p.I1452fs 0.997:0.741:0.996:0.995:0.802:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 HMMPfam_Plexin_cytopl,superfamily_Rho_GAP superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,HMMSmart_IPT,superfamily_Ig_E-set,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_Rho_GAP (deletion:cds_exon[153350360,153350506]) no_errors PLXNA3 55558 genome.wustl.edu 36 X 153352856 153352870 + Splice_Site DEL TGGGCTCCGCCCTGC TGGGCTCCGCCCTGC - novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 TGGGCTCCGCCCTGC TGGGCTCCGCCCTGC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 X 153352856 153352870 TGGGCTCCGCCCTGC - DEL PLXNA3 NM_017514 human genbank 54_36p +1 validated splice_site_del c.5369+2_5369+1 e30+2 1.000:0.981:0.888:0.866:0.189:0.031:0.029:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000 - - (deletion:intron[153352855,153353024]) no_errors C1orf125 126859 genome.wustl.edu 36 1 177630877 177630884 + Frame_Shift_Del DEL ACATGATG ACATGATG - novel unknown TCGA-20-1682-01A-01W-0633-09 TCGA-20-1682-10A-01W-0633-09 ACATGATG ACATGATG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1a77c0cf-43c2-409b-81db-a8091e3ebfe0 86334b20-a70a-4a78-8fef-3f98c25e3197 1 177630877 177630884 ACATGATG - DEL C1orf125 NM_144696 human genbank 54_36p +1 validated frame_shift_del c.1026_1033 p.H343fs 0.980:0.996:0.998:0.997:0.997:0.971:0.331:0.255 NULL HMMPfam_Ax_dynein_light (deletion:cds_exon[177630856,177630960]) no_errors