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 NQO2 4835 genome.wustl.edu 36 6 2960828 2960828 + Silent SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 6 2960828 2960828 G A SNP NQO2 NM_000904 human genbank 54_36p +1 validated silent c.369 p.Q123 0.870 HMMPfam_Flavodoxin_2,superfamily_Flavoproteins HMMPfam_Flavodoxin_2,superfamily_Flavoproteins - no_errors DLGAP1 9229 genome.wustl.edu 36 18 3869421 3869421 + Silent SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 18 3869421 3869421 G A SNP DLGAP1 NM_004746 human genbank 54_36p -1 provisional silent c.648 p.H216 1.000 NULL HMMPfam_GKAP - no_errors TRIM5 85363 genome.wustl.edu 36 11 5656241 5656241 + Splice_Site SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 11 5656241 5656241 C T SNP TRIM5 NM_033034 human genbank 54_36p -1 reviewed splice_site c.514-1 e3-1 0.249 - - - no_errors CRMP1 1400 genome.wustl.edu 36 4 5919351 5919351 + Missense_Mutation SNP T T C novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 4 5919351 5919351 T C SNP CRMP1 NM_001014809 human genbank 54_36p -1 reviewed missense c.415 p.I139V 1.000 superfamily_Metalo_hydrolase superfamily_Metalo_hydrolase,HMMPfam_Amidohydro_1,superfamily_SSF51556 - no_errors JMJD2C 23081 genome.wustl.edu 36 9 7003853 7003853 + Silent SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 9 7003853 7003853 G A SNP JMJD2C NM_015061 human genbank 54_36p +1 reviewed silent c.2034 p.S678 0.000 NULL HMMSmart_SM00545,HMMPfam_JmjN,HMMSmart_SM00558,HMMPfam_JmjC,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT - no_errors NLRP14 338323 genome.wustl.edu 36 11 7036192 7036192 + Silent SNP T T A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 11 7036192 7036192 T A SNP NLRP14 NM_176822 human genbank 54_36p +1 reviewed silent c.2568 p.G856 0.868 superfamily_SSF52047 superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047 - no_errors TP53 7157 genome.wustl.edu 36 17 7518264 7518264 + Missense_Mutation SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 17 7518264 7518264 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.742 p.R248W 1.000 HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53 HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors SEMA5A 9037 genome.wustl.edu 36 5 9096076 9096076 + Missense_Mutation SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 5 9096076 9096076 G A SNP SEMA5A NM_003966 human genbank 54_36p -1 validated missense c.3158 p.P1053L 1.000 NULL superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1 - no_errors KIAA2013 90231 genome.wustl.edu 36 1 11905989 11905989 + Missense_Mutation SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 1 11905989 11905989 G A SNP KIAA2013 NM_138346 human genbank 54_36p -1 provisional missense c.1178 p.T393M 0.588 HMMPfam_DUF2152 HMMPfam_DUF2152 - no_errors POTED 317754 genome.wustl.edu 36 21 13904933 13904933 + Silent SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 21 13904933 13904933 G A SNP POTED NM_174981 human genbank 54_36p +1 validated silent c.513 p.K171 0.256 superfamily_Ankyrin repeat,HMMPfam_Ank superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248 - no_errors PADI1 29943 genome.wustl.edu 36 1 17427784 17427784 + Nonsense_Mutation SNP G G T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 1 17427784 17427784 G T SNP PADI1 NM_013358 human genbank 54_36p +1 reviewed nonsense c.730 p.E244* 0.382 HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain HMMPfam_PAD_N,superfamily_Cupredoxins,HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain,HMMPfam_PAD,superfamily_Pentein - no_errors LOC728380 728380 genome.wustl.edu 36 6 17639571 17639571 + RNA SNP G G T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 6 17639571 17639571 G T SNP LOC728380 XR_015500 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene LOC729722 729722 genome.wustl.edu 36 15 18346556 18346556 + Missense_Mutation SNP C C A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 15 18346556 18346556 C A SNP LOC729722 XM_001716538 human genbank 54_36p +1 model missense c.401 p.A134E 0.003 superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank HMMSmart_SM00248,HMMPfam_Ank,superfamily_Ankyrin repeat,PatternScan_ASP_PROTEASE - no_errors SLIT2 9353 genome.wustl.edu 36 4 20161552 20161552 + Missense_Mutation SNP C C G novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 4 20161552 20161552 C G SNP SLIT2 NM_004787 human genbank 54_36p +1 provisional missense c.2494 p.L832V 1.000 superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1 superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,HMMSmart_SM00365,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMSmart_SM00274,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00041,PatternScan_CTCK_1 - no_errors uc002gxb.2 0 genome.wustl.edu 36 17 20348129 20348129 + Missense_Mutation SNP G G T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 17 20348129 20348129 G T SNP uc002gxb.2 ENST00000399048 human ensembl 54_36p -1 known missense c.200 p.A67E 0.773 NULL NULL - no_errors C7orf31 136895 genome.wustl.edu 36 7 25142719 25142719 + Silent SNP A A G novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 7 25142719 25142719 A G SNP C7orf31 NM_138811 human genbank 54_36p -1 validated silent c.1170 p.H390 0.000 NULL NULL - no_errors RASSF8 11228 genome.wustl.edu 36 12 26109464 26109464 + Missense_Mutation SNP G G T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 12 26109464 26109464 G T SNP RASSF8 NM_007211 human genbank 54_36p +1 provisional missense c.870 p.E290D 1.000 NULL HMMSmart_RA,HMMPfam_RA - no_errors OTOF 9381 genome.wustl.edu 36 2 26550984 26550984 + Silent SNP C T T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 2 26550984 26550984 C T SNP OTOF NM_194248 human genbank 54_36p -1 reviewed silent c.3189 p.A1063 0.957 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239 HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerB - no_errors N6AMT1 29104 genome.wustl.edu 36 21 29172441 29172441 + Missense_Mutation SNP T T C novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 21 29172441 29172441 T C SNP N6AMT1 NM_013240 human genbank 54_36p -1 reviewed missense c.482 p.D161G 0.598 HMMPfam_MTS,superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_MTS,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,PatternScan_N6_MTASE - no_errors RNF160 26046 genome.wustl.edu 36 21 29226777 29226777 + Silent SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 21 29226777 29226777 C T SNP RNF160 NM_015565 human genbank 54_36p -1 validated silent c.4956 p.L1652 0.996 NULL superfamily_ARM repeat,superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4 - no_errors ENSG00000209058 0 genome.wustl.edu 36 22 29786227 29786227 + RNA SNP A G G novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 22 29786227 29786227 A G SNP ENSG00000209058 ENST00000386323 human ensembl 54_36p +1 novel rna NULL NULL 1.000 - - - pseudogene ALDOA 226 genome.wustl.edu 36 16 29988961 29988961 + Missense_Mutation SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 16 29988961 29988961 G A SNP ALDOA NM_000034 human genbank 54_36p +1 reviewed missense c.1022 p.G341E 1.000 superfamily_SSF51569,HMMPfam_Glycolytic superfamily_SSF51569,HMMPfam_Glycolytic,PatternScan_ALDOLASE_CLASS_I - no_errors RYR3 6263 genome.wustl.edu 36 15 31893024 31893024 + Missense_Mutation SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 15 31893024 31893024 G A SNP RYR3 NM_001036 human genbank 54_36p +1 validated missense c.10454 p.R3485Q 1.000 NULL HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,HMMPfam_efhand,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans - no_errors ADAMTS12 81792 genome.wustl.edu 36 5 33718910 33718910 + Silent SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 5 33718910 33718910 C T SNP ADAMTS12 NM_030955 human genbank 54_36p -1 reviewed silent c.885 p.V295 0.974 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin" "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 CSMD2 114784 genome.wustl.edu 36 1 34327302 34327302 + Silent SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 1 34327302 34327302 G A SNP CSMD2 NM_052896 human genbank 54_36p -1 validated silent c.147 p.Y49 0.996 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC - no_errors NDUFAF1 51103 genome.wustl.edu 36 15 39474459 39474459 + Missense_Mutation SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 15 39474459 39474459 G A SNP NDUFAF1 NM_016013 human genbank 54_36p -1 validated missense c.649 p.R217W 0.998 HMMPfam_CIA30 HMMPfam_CIA30 - no_errors IGF2BP1 10642 genome.wustl.edu 36 17 44430143 44430143 + Missense_Mutation SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 17 44430143 44430143 G A SNP IGF2BP1 NM_006546 human genbank 54_36p +1 reviewed missense c.37 p.V13M 1.000 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1 - no_errors FAM21C 253725 genome.wustl.edu 36 10 45584943 45584943 + Missense_Mutation SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 10 45584943 45584943 C T SNP FAM21C NM_015262 human genbank 54_36p +1 validated missense c.1904 p.S635F 0.105 NULL NULL - no_errors PREX1 57580 genome.wustl.edu 36 20 46758323 46758323 + Missense_Mutation SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 20 46758323 46758323 G A SNP PREX1 NM_020820 human genbank 54_36p -1 reviewed missense c.665 p.A222V 0.513 superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325 "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00049,HMMPfam_DEP,superfamily_PDZ domain-like,HMMSmart_SM00228" - no_errors WAS 7454 genome.wustl.edu 36 X 48429127 48429127 + Missense_Mutation SNP G A A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 X 48429127 48429127 G A SNP WAS NM_000377 human genbank 54_36p +1 reviewed missense c.421 p.V141M 0.379 superfamily_SSF50729,HMMPfam_WH1,HMMSmart_WH1 superfamily_SSF50729,HMMPfam_WH1,HMMSmart_WH1,HMMPfam_PBD,HMMSmart_PBD,superfamily_WASP_C,HMMPfam_WH2,HMMSmart_WH2 - no_errors FRMPD2 143162 genome.wustl.edu 36 10 49062667 49062667 + Missense_Mutation SNP C C G novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 10 49062667 49062667 C G SNP FRMPD2 NM_001018071 human genbank 54_36p -1 reviewed missense c.2532 p.R844S 0.842 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 HMMSmart_SM00750,superfamily_Ubiquitin-like,HMMSmart_SM00295,HMMPfam_FERM_N,superfamily_Second domain of FERM,HMMPfam_FERM_M,superfamily_PH domain-like,HMMPfam_FERM_C,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors DCC 1630 genome.wustl.edu 36 18 49166487 49166487 + Silent SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 18 49166487 49166487 C T SNP DCC NM_005215 human genbank 54_36p +1 validated silent c.2436 p.A812 1.000 superfamily_Fibronectin type III superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_Neogenin_C - no_errors MAP3K12 7786 genome.wustl.edu 36 12 52167328 52167328 + Missense_Mutation SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 12 52167328 52167328 C T SNP MAP3K12 NM_006301 human genbank 54_36p -1 reviewed missense c.115 p.E39K 0.997 NULL PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST - no_errors MAGED2 10916 genome.wustl.edu 36 X 54856318 54856318 + Missense_Mutation SNP G G T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 X 54856318 54856318 G T SNP MAGED2 NM_014599 human genbank 54_36p +1 reviewed missense c.1208 p.G403V 1.000 HMMPfam_MAGE HMMPfam_MAGE - no_errors DST 667 genome.wustl.edu 36 6 56525905 56525905 + Missense_Mutation SNP A A G novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 6 56525905 56525905 A G SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.8753 p.M2918T 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,HMMSmart_SM00150,HMMPfam_Spectrin,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_SM00243 - no_errors PRG2 5553 genome.wustl.edu 36 11 56912747 56912747 + Missense_Mutation SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 11 56912747 56912747 C T SNP PRG2 NM_002728 human genbank 54_36p -1 reviewed missense c.377 p.R126Q 0.000 HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors C1orf87 127795 genome.wustl.edu 36 1 60239417 60239417 + Splice_Site SNP C C G novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 1 60239417 60239417 C G SNP C1orf87 NM_152377 human genbank 54_36p -1 predicted splice_site c.1193-1 e9-1 0.537 - - - no_errors USP15 9958 genome.wustl.edu 36 12 61035389 61035389 + Missense_Mutation SNP T T C novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 12 61035389 61035389 T C SNP USP15 NM_006313 human genbank 54_36p +1 provisional missense c.694 p.S232P 1.000 NULL HMMSmart_DUSP,HMMPfam_DUF1055,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,superfamily_RNA3apos_cycl/enolpyr_transf_A/B,PatternScan_UCH_2_2 - no_errors CHD7 55636 genome.wustl.edu 36 8 61936169 61936169 + Silent SNP A A G novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 8 61936169 61936169 A G SNP CHD7 NM_017780 human genbank 54_36p +1 reviewed silent c.7761 p.K2587 1.000 HMMPfam_BRK,HMMSmart_SM00592 superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592 - no_errors ZNF324B 388569 genome.wustl.edu 36 19 63659310 63659310 + Missense_Mutation SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 19 63659310 63659310 C T SNP ZNF324B NM_207395 human genbank 54_36p +1 validated missense c.1187 p.P396L 0.795 superfamily_C2H2 and C2HC zinc fingers HMMPfam_KRAB,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors PYGM 5837 genome.wustl.edu 36 11 64276032 64276032 + Missense_Mutation SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 11 64276032 64276032 G A SNP PYGM NM_005609 human genbank 54_36p -1 validated missense c.1708 p.R570W 1.000 superfamily_SSF53756,HMMPfam_Phosphorylase superfamily_SSF53756,HMMPfam_Phosphorylase,PatternScan_PHOSPHORYLASE - no_errors SPTB 6710 genome.wustl.edu 36 14 64309824 64309824 + Missense_Mutation SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 14 64309824 64309824 C T SNP SPTB NM_001024858 human genbank 54_36p -1 validated missense c.5045 p.R1682H 0.998 HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors DPP3 10072 genome.wustl.edu 36 11 66016919 66016919 + Missense_Mutation SNP C C A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 11 66016919 66016919 C A SNP DPP3 NM_005700 human genbank 54_36p +1 reviewed missense c.1145 p.A382D 1.000 HMMPfam_Peptidase_M49 HMMPfam_Peptidase_M49 - no_errors COL19A1 1310 genome.wustl.edu 36 6 70699464 70699464 + Missense_Mutation SNP A A G novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 6 70699464 70699464 A G SNP COL19A1 NM_001858 human genbank 54_36p +1 reviewed missense c.735 p.I245M 0.727 NULL HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Collagen - no_errors ZNF638 27332 genome.wustl.edu 36 2 71507122 71507122 + Missense_Mutation SNP G G C novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 2 71507122 71507122 G C SNP ZNF638 NM_001014972 human genbank 54_36p +1 reviewed missense c.4615 p.D1539H 1.000 NULL HMMSmart_SM00451,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors SNUPN 10073 genome.wustl.edu 36 15 73689002 73689002 + Missense_Mutation SNP A A C novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 15 73689002 73689002 A C SNP SNUPN NM_001042581 human genbank 54_36p -1 reviewed missense c.454 p.F152V 1.000 NULL NULL - no_errors LOC401076 401076 genome.wustl.edu 36 3 76566642 76566642 + RNA SNP C C A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 3 76566642 76566642 C A SNP LOC401076 XR_016406 human genbank 54_36p +1 model rna NULL NULL 0.948 - - - pseudogene ADAMTS7 11173 genome.wustl.edu 36 15 76856170 76856170 + Silent SNP G A A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 15 76856170 76856170 G A SNP ADAMTS7 NM_014272 human genbank 54_36p -1 reviewed silent c.1536 p.D512 0.999 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 FRAS1 80144 genome.wustl.edu 36 4 79606527 79606527 + Missense_Mutation SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 4 79606527 79606527 G A SNP FRAS1 ENST00000380674 human ensembl 54_36p +1 known missense c.7174 p.G2392S 1.000 NULL HMMSmart_SM00214,HMMSmart_SM00215,PatternScan_VWFC_1,HMMPfam_VWC,superfamily_Growth factor receptor domain,HMMSmart_SM00261,HMMSmart_SM00181,HMMSmart_SM00237,HMMPfam_Calx-beta - no_errors LOC642585 0 genome.wustl.edu 36 X 80071783 80071783 + RNA SNP C C G novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 X 80071783 80071783 C G SNP LOC642585 XR_038848 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene CACNA2D1 781 genome.wustl.edu 36 7 81426597 81426597 + Missense_Mutation SNP T T C novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 7 81426597 81426597 T C SNP CACNA2D1 NM_000722 human genbank 54_36p -1 reviewed missense c.3089 p.N1030S 0.999 NULL HMMPfam_VWA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_Cache_1,HMMPfam_VGCC_alpha2 - no_errors CYLC1 1538 genome.wustl.edu 36 X 83014657 83014657 + Silent SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 X 83014657 83014657 G A SNP CYLC1 NM_021118 human genbank 54_36p +1 provisional silent c.285 p.R95 0.001 NULL NULL - no_errors C9orf79 286234 genome.wustl.edu 36 9 89691213 89691213 + Missense_Mutation SNP C C G novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 9 89691213 89691213 C G SNP C9orf79 NM_178828 human genbank 54_36p +1 validated missense c.1991 p.P664R 0.002 NULL NULL - no_errors SLCO3A1 28232 genome.wustl.edu 36 15 90464860 90464860 + Missense_Mutation SNP C C G novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 15 90464860 90464860 C G SNP SLCO3A1 NM_013272 human genbank 54_36p +1 validated missense c.1171 p.L391V 1.000 superfamily_MFS general substrate transporter,HMMPfam_OATP superfamily_MFS general substrate transporter,HMMPfam_OATP,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2 - no_errors ASPN 54829 genome.wustl.edu 36 9 94276751 94276751 + Nonsense_Mutation SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 9 94276751 94276751 G A SNP ASPN NM_017680 human genbank 54_36p -1 validated nonsense c.250 p.R84* 0.802 superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1 - no_errors MUC17 140453 genome.wustl.edu 36 7 100467770 100467770 + Missense_Mutation SNP A A G novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 7 100467770 100467770 A G SNP MUC17 NM_001040105 human genbank 54_36p +1 provisional missense c.6353 p.E2118G 0.244 NULL superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors PKD2L1 9033 genome.wustl.edu 36 10 102049452 102049452 + Missense_Mutation SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 10 102049452 102049452 C T SNP PKD2L1 NM_016112 human genbank 54_36p -1 reviewed missense c.363 p.M121I 1.000 NULL HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels - no_errors ACSL4 2182 genome.wustl.edu 36 X 108798931 108798931 + Missense_Mutation SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 X 108798931 108798931 G A SNP ACSL4 NM_022977 human genbank 54_36p -1 reviewed missense c.1253 p.P418L 1.000 superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING - no_errors EBAG9 9166 genome.wustl.edu 36 8 110632300 110632300 + Missense_Mutation SNP G G C novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 8 110632300 110632300 G C SNP EBAG9 NM_004215 human genbank 54_36p +1 reviewed missense c.71 p.R24T 1.000 NULL NULL - no_errors DOCK4 9732 genome.wustl.edu 36 7 111205566 111205566 + Splice_Site SNP A A T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 7 111205566 111205566 A T SNP DOCK4 NM_014705 human genbank 54_36p -1 reviewed splice_site c.3652+2 e35+2 1.000 - - - no_errors CSMD3 114788 genome.wustl.edu 36 8 113418198 113418198 + Missense_Mutation SNP G G T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 8 113418198 113418198 G T SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.6878 p.T2293N 1.000 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10 - no_errors CIT 11113 genome.wustl.edu 36 12 118798350 118798350 + Silent SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 12 118798350 118798350 C T SNP CIT NM_007174 human genbank 54_36p -1 validated silent c.6 p.L2 1.000 NULL 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 CDGAP 57514 genome.wustl.edu 36 3 120616689 120616689 + Missense_Mutation SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 3 120616689 120616689 G A SNP CDGAP NM_020754 human genbank 54_36p +1 reviewed missense c.3223 p.V1075M 0.000 NULL superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors DBC1 1620 genome.wustl.edu 36 9 120969755 120969755 + Missense_Mutation SNP A A C novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 9 120969755 120969755 A C SNP DBC1 NM_014618 human genbank 54_36p -1 validated missense c.1714 p.S572A 1.000 NULL HMMSmart_SM00457 - no_errors ANXA5 308 genome.wustl.edu 36 4 122809123 122809123 + Missense_Mutation SNP A A T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 4 122809123 122809123 A T SNP ANXA5 NM_001154 human genbank 54_36p -1 reviewed missense c.913 p.S305T 0.999 superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335 superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335 - no_errors FAM40B 57464 genome.wustl.edu 36 7 128883612 128883612 + Missense_Mutation SNP G G C novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 7 128883612 128883612 G C SNP FAM40B NM_020704 human genbank 54_36p +1 validated missense c.931 p.V311L 1.000 HMMPfam_N1221 HMMPfam_N1221 - no_errors LRP1B 53353 genome.wustl.edu 36 2 141010675 141010675 + Silent SNP G G T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 2 141010675 141010675 G T SNP LRP1B NM_018557 human genbank 54_36p -1 validated silent c.7587 p.T2529 0.999 superfamily_SSF63825,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1 superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_SSF63825,HMMSmart_LY,HMMPfam_Ldl_recept_b,HMMPfam_EGF,HMMPfam_NHL,HMMPfam_EGF_2,PatternScan_EGF_1 - no_errors ENSG00000211736 0 genome.wustl.edu 36 7 141924744 141924744 + Missense_Mutation SNP C C A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 7 141924744 141924744 C A SNP ENSG00000211736 ENST00000390383 human ensembl 54_36p +1 known missense c.222 p.F74L 0.008 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG - no_stop_codon:bad_bp_length_for_coding_region SPANXN2 494119 genome.wustl.edu 36 X 142623243 142623243 + Missense_Mutation SNP A A C novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 X 142623243 142623243 A C SNP SPANXN2 NM_001009615 human genbank 54_36p -1 provisional missense c.101 p.V34G 0.000 HMMPfam_SPAN-X HMMPfam_SPAN-X - no_errors ADAMTSL4 54507 genome.wustl.edu 36 1 148799249 148799249 + Missense_Mutation SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 1 148799249 148799249 C T SNP ADAMTSL4 NM_019032 human genbank 54_36p +1 reviewed missense c.3178 p.R1060C 1.000 HMMPfam_PLAC superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC - no_errors GYG1 2992 genome.wustl.edu 36 3 150226937 150226937 + Missense_Mutation SNP C C A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 3 150226937 150226937 C A SNP GYG1 NM_004130 human genbank 54_36p +1 provisional missense c.837 p.D279E 1.000 NULL superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8 - no_errors CNGA2 1260 genome.wustl.edu 36 X 150657634 150657634 + Missense_Mutation SNP T T C novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 X 150657634 150657634 T C SNP CNGA2 NM_005140 human genbank 54_36p +1 validated missense c.23 p.V8A 1.000 NULL superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2 - no_errors UBE2Q1 55585 genome.wustl.edu 36 1 152790591 152790591 + Missense_Mutation SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 1 152790591 152790591 C T SNP UBE2Q1 NM_017582 human genbank 54_36p -1 reviewed missense c.1076 p.G359D 1.000 superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con - no_errors G6PD 2539 genome.wustl.edu 36 X 153414048 153414048 + Missense_Mutation SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 X 153414048 153414048 C T SNP G6PD NM_000402 human genbank 54_36p -1 reviewed missense c.1305 p.M435I 1.000 superfamily_SSF55347,HMMPfam_G6PD_C superfamily_NAD(P)-bd,HMMPfam_G6PD_N,PatternScan_G6P_DEHYDROGENASE,superfamily_SSF55347,HMMPfam_G6PD_C - no_errors DAP3 7818 genome.wustl.edu 36 1 153964100 153964100 + Missense_Mutation SNP G G T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 1 153964100 153964100 G T SNP DAP3 NM_004632 human genbank 54_36p +1 reviewed missense c.550 p.A184S 1.000 HMMPfam_DAP3 HMMPfam_DAP3 - no_errors FNDC1 84624 genome.wustl.edu 36 6 159556098 159556098 + Silent SNP C C T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 6 159556098 159556098 C T SNP FNDC1 NM_032532 human genbank 54_36p +1 validated silent c.594 p.Y198 0.996 superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3 superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 - no_errors FAT1 2195 genome.wustl.edu 36 4 187747148 187747148 + Silent SNP G G T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 4 187747148 187747148 G T SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed silent c.13359 p.P4453 0.183 NULL superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_CADHERIN_1,HMMSmart_SM00181,superfamily_EGF/Laminin,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL - no_errors ASPM 259266 genome.wustl.edu 36 1 195339848 195339848 + Missense_Mutation SNP G G A novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 1 195339848 195339848 G A SNP ASPM NM_018136 human genbank 54_36p -1 validated missense c.5156 p.A1719V 0.000 NULL superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,HMMPfam_CH,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00015,HMMPfam_IQ - no_errors CRB1 23418 genome.wustl.edu 36 1 195674406 195674406 + Missense_Mutation SNP C C G novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 1 195674406 195674406 C G SNP CRB1 NM_201253 human genbank 54_36p +1 reviewed missense c.3856 p.R1286G 0.920 superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2 superfamily_EGF/Laminin,HMMSmart_SM00181,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_C_TYPE_LECTIN_1 - no_errors SGOL2 151246 genome.wustl.edu 36 2 201108104 201108104 + Nonsense_Mutation SNP G G T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 2 201108104 201108104 G T SNP SGOL2 NM_152524 human genbank 54_36p +1 provisional nonsense c.274 p.E92* 1.000 HMMPfam_Shugoshin_N HMMPfam_Shugoshin_N - no_errors COL4A4 1286 genome.wustl.edu 36 2 227624013 227624013 + Missense_Mutation SNP G G C novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 2 227624013 227624013 G C SNP COL4A4 NM_000092 human genbank 54_36p -1 reviewed missense c.3074 p.P1025R 0.161 HMMPfam_Collagen HMMPfam_Collagen,HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like - no_errors SIPA1L2 57568 genome.wustl.edu 36 1 230686262 230686262 + Missense_Mutation SNP T T C novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 1 230686262 230686262 T C SNP SIPA1L2 NM_020808 human genbank 54_36p -1 validated missense c.1880 p.N627S 1.000 superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors MT-ND6 4541 genome.wustl.edu 36 MT 14604 14605 + Frame_Shift_Ins INS - - T novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 MT 14604 14605 - T INS MT-ND6 ENST00000361681 human ensembl 54_36p -1 known frame_shift_ins c.71_70 p.S24fs NULL HMMPfam_Oxidored_q3 HMMPfam_Oxidored_q3 - no_stop_codon RLN3 117579 genome.wustl.edu 36 19 14002732 14002755 + In_Frame_Del DEL GCAAAAGTGAAATCAGTAGCCTTT GCAAAAGTGAAATCAGTAGCCTTT - novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 GCAAAAGTGAAATCAGTAGCCTTT GCAAAAGTGAAATCAGTAGCCTTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 19 14002732 14002755 GCAAAAGTGAAATCAGTAGCCTTT - DEL RLN3 NM_080864 human genbank 54_36p +1 validated in_frame_del c.401_424 p.KSEISSLC135in_frame_del 1.000:1.000:1.000:0.996:0.893:0.873:0.696:0.683:0.860:0.897:0.884:0.963:0.996:0.997:1.000:1.000:1.000:0.998:0.997:0.997:1.000:0.999:0.985:1.000 superfamily_Insulin-like,HMMSmart_IlGF,PatternScan_INSULIN superfamily_Insulin-like,HMMSmart_IlGF,PatternScan_INSULIN (deletion:cds_exon[14002522,14002760]) no_errors GUF1 60558 genome.wustl.edu 36 4 44377564 44377574 + Frame_Shift_Del DEL TCTTTTACAAT TCTTTTACAAT - novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 TCTTTTACAAT TCTTTTACAAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 4 44377564 44377574 TCTTTTACAAT - DEL GUF1 NM_021927 human genbank 54_36p +1 validated frame_shift_del c.374_384 p.F126fs 1.000:0.992:0.999:1.000:1.000:1.000:0.994:0.292:0.264:0.244:0.229 superfamily_SSF52540,HMMPfam_GTP_EFTU superfamily_SSF52540,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_EFG_III_V,HMMPfam_EFG_C,HMMPfam_LepA_C (deletion:cds_exon[44377468,44377616]) no_errors DHX30 22907 genome.wustl.edu 36 3 47864880 47864880 + Frame_Shift_Del DEL G G - novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 3 47864880 47864880 G - DEL DHX30 NM_138615 human genbank 54_36p +1 reviewed frame_shift_del c.2493 p.A832fs 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_dsRNA-binding domain-like,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605 (deletion:cds_exon[47864674,47864880]) no_errors TRMT2B 79979 genome.wustl.edu 36 X 100163687 100163689 + In_Frame_Del DEL CTT CTT - novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 CTT CTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 X 100163687 100163689 CTT - DEL TRMT2B NM_024917 human genbank 54_36p -1 provisional in_frame_del c.777_775 p.K259in_frame_del 0.914:0.987:0.998 superfamily_S-adenosyl-L-methionine-dependent methyltransferases superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_MTS (deletion:cds_exon[100163613,100163707]) no_errors IRS4 8471 genome.wustl.edu 36 X 107862523 107862525 + In_Frame_Del DEL GTC GTC - novel unknown TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 GTC GTC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7abd0180-998c-4c7d-9e87-9684a356b7ed 92b787c4-41b2-47f2-8d17-f9ee064e3ad4 X 107862523 107862525 GTC - DEL IRS4 NM_003604 human genbank 54_36p -1 reviewed in_frame_del c.3708_3706 p.D1236in_frame_del 0.002:0.003:0.006 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI (deletion:cds_exon[107862457,107866230]) no_errors