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 MT-ATP6 4508 genome.wustl.edu 36 MT 8822 8822 + Missense_Mutation SNP T C C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e MT 8822 8822 T C SNP MT-ATP6 ENST00000361899 human ensembl 54_36p +1 known missense c.295 p.S99P NULL HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A,PatternScan_ATPASE_A - no_errors ENSG00000215615 0 genome.wustl.edu 36 NT_113889 38826 38826 + Missense_Mutation SNP G C C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e NT_113889 38826 38826 G C SNP ENSG00000215615 ENST00000400681 human ensembl 54_36p -1 known missense c.637 p.P213A NULL NULL HMMPfam_Tektin - no_stop_codon LOC100131675 0 genome.wustl.edu 36 7 201276 201276 + RNA SNP G A A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 7 201276 201276 G A SNP LOC100131675 XR_037943 human genbank 54_36p +1 model rna NULL NULL 0.000 - - - pseudogene LOC728613 728613 genome.wustl.edu 36 5 1651162 1651162 + RNA SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 5 1651162 1651162 C A SNP LOC728613 NR_003713 human genbank 54_36p -1 validated rna NULL NULL 0.954 - - - pseudogene C16orf73 254528 genome.wustl.edu 36 16 1829264 1829264 + Missense_Mutation SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 16 1829264 1829264 C A SNP C16orf73 NM_152764 human genbank 54_36p -1 validated missense c.479 p.G160V 1.000 NULL NULL - no_errors ACTRT2 140625 genome.wustl.edu 36 1 2928268 2928268 + Missense_Mutation SNP A A T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 1 2928268 2928268 A T SNP ACTRT2 NM_080431 human genbank 54_36p +1 reviewed missense c.158 p.Q53L 0.991 HMMPfam_Actin,superfamily_Actin-like ATPase domain,HMMSmart_SM00268 HMMPfam_Actin,superfamily_Actin-like ATPase domain,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE - no_errors LOC728263 728263 genome.wustl.edu 36 4 3995586 3995586 + RNA SNP C T T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 4 3995586 3995586 C T SNP LOC728263 XR_015245 human genbank 54_36p +1 model rna NULL NULL 0.000 - - - pseudogene ENSG00000180913 0 genome.wustl.edu 36 11 6106501 6106501 + Missense_Mutation SNP G T T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 11 6106501 6106501 G T SNP ENSG00000180913 ENST00000316517 human ensembl 54_36p +1 known missense c.86 p.W29L 0.824 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1 - no_errors POLS 11044 genome.wustl.edu 36 5 6796882 6796882 + Missense_Mutation SNP G G A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 5 6796882 6796882 G A SNP POLS NM_006999 human genbank 54_36p +1 reviewed missense c.424 p.D142N 1.000 superfamily_PAP/OAS1 substrate-binding domain superfamily_Nucleotidyltransferase,HMMPfam_NTP_transf_2,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc - no_errors CHD3 1107 genome.wustl.edu 36 17 7753266 7753266 + Silent SNP C G G novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 17 7753266 7753266 C G SNP CHD3 NM_001005271 human genbank 54_36p +1 reviewed silent c.5610 p.P1870 1.000 HMMPfam_CHDCT2 HMMPfam_CHDNT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00298,superfamily_Chromo domain-like,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_CHROMO_1,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_DUF1087,HMMPfam_DUF1086,HMMPfam_CHDCT2 - no_errors TMEM9B 56674 genome.wustl.edu 36 11 8926572 8926572 + Missense_Mutation SNP G T T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 11 8926572 8926572 G T SNP TMEM9B NM_020644 human genbank 54_36p -1 provisional missense c.468 p.H156Q 0.999 HMMPfam_Tmemb_9 HMMPfam_Tmemb_9 - no_errors USP17 0 genome.wustl.edu 36 4 8970564 8970564 + Missense_Mutation SNP G G A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 4 8970564 8970564 G A SNP USP17 NM_001105662 human genbank 54_36p +1 provisional missense c.1358 p.R453K 0.015 NULL superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - pseudogene LPIN1 23175 genome.wustl.edu 36 2 11823298 11823298 + Silent SNP C C G novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 2 11823298 11823298 C G SNP LPIN1 NM_145693 human genbank 54_36p +1 reviewed silent c.180 p.S60 1.000 HMMPfam_Lipin_N HMMPfam_Lipin_N,superfamily_SSF56784,HMMPfam_LNS2,HMMSmart_LNS2 - no_errors LOC388514 388514 genome.wustl.edu 36 19 15732065 15732065 + RNA SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 19 15732065 15732065 C A SNP LOC388514 XR_017598 human genbank 54_36p -1 model rna NULL NULL 0.812 - - - no_errors RPGRIP1 57096 genome.wustl.edu 36 14 20864111 20864111 + Silent SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 14 20864111 20864111 C A SNP RPGRIP1 NM_020366 human genbank 54_36p +1 reviewed silent c.2649 p.G883 0.838 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2 - no_errors MKRN3 7681 genome.wustl.edu 36 15 21362247 21362247 + Silent SNP C C T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 15 21362247 21362247 C T SNP MKRN3 NM_005664 human genbank 54_36p +1 reviewed silent c.225 p.A75 0.000 NULL HMMSmart_ZnF_C3H1,HMMPfam_zf-CCCH,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1 - no_errors CD93 22918 genome.wustl.edu 36 20 23014492 23014492 + Missense_Mutation SNP C A A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 20 23014492 23014492 C A SNP CD93 NM_012072 human genbank 54_36p -1 reviewed missense c.338 p.G113V 1.000 HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMPfam_Lectin_C PatternScan_C_TYPE_LECTIN_1,HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMPfam_Lectin_C,HMMSmart_EGF,superfamily_SSF57196,PatternScan_EGF_2,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL - no_errors ADAM7 8756 genome.wustl.edu 36 8 24402653 24402653 + Missense_Mutation SNP T T C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 8 24402653 24402653 T C SNP ADAM7 NM_003817 human genbank 54_36p +1 validated missense c.1183 p.F395L 0.000 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR" - no_errors HIST1H4C 8364 genome.wustl.edu 36 6 26212278 26212278 + Missense_Mutation SNP G G C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 6 26212278 26212278 G C SNP HIST1H4C NM_003542 human genbank 54_36p +1 reviewed missense c.124 p.G42R 1.000 superfamily_Histone-fold,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803 superfamily_Histone-fold,PatternScan_HISTONE_H4,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803 - no_errors RFPL1S 10740 genome.wustl.edu 36 22 28165552 28165552 + RNA SNP G T T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 22 28165552 28165552 G T SNP RFPL1S NR_002727 human genbank 54_36p -1 validated rna NULL NULL 0.002 - - - no_errors PPP1CB 5500 genome.wustl.edu 36 2 28858210 28858210 + Missense_Mutation SNP G G T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 2 28858210 28858210 G T SNP PPP1CB NM_002709 human genbank 54_36p +1 reviewed missense c.518 p.G173V 1.000 superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos,PatternScan_SER_THR_PHOSPHATASE - no_errors RNF160 26046 genome.wustl.edu 36 21 29253744 29253744 + Missense_Mutation SNP C C T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 21 29253744 29253744 C T SNP RNF160 NM_015565 human genbank 54_36p -1 validated missense c.2500 p.A834T 0.678 superfamily_ARM repeat superfamily_ARM repeat,superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4 - no_errors ENSG00000205534 0 genome.wustl.edu 36 16 29484287 29484287 + Missense_Mutation SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 16 29484287 29484287 C A SNP ENSG00000205534 ENST00000380594 human ensembl 54_36p -1 known missense c.286 p.G96C 1.000 NULL NULL - no_errors ZFP57 346171 genome.wustl.edu 36 6 29749459 29749459 + Silent SNP A A T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 6 29749459 29749459 A T SNP ZFP57 NM_001109809 human genbank 54_36p -1 inferred silent c.348 p.T116 0.002 NULL superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors TAOK2 9344 genome.wustl.edu 36 16 29902022 29902022 + Silent SNP C C T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 16 29902022 29902022 C T SNP TAOK2 NM_016151 human genbank 54_36p +1 validated silent c.1128 p.D376 0.998 superfamily_Protein kinase-like (PK-like) superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors SFI1 9814 genome.wustl.edu 36 22 30337135 30337135 + Missense_Mutation SNP T C C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 22 30337135 30337135 T C SNP SFI1 NM_001007467 human genbank 54_36p +1 validated missense c.2261 p.L754P 0.284 NULL NULL - no_errors LOC644153 644153 genome.wustl.edu 36 15 30463907 30463907 + Silent SNP T T A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 15 30463907 30463907 T A SNP LOC644153 XM_001718804 human genbank 54_36p +1 model silent c.111 p.I37 0.999 NULL HMMPfam_GED,HMMSmart_SM00302 - pseudogene RFPL3 10738 genome.wustl.edu 36 22 31086391 31086391 + Missense_Mutation SNP A A C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 22 31086391 31086391 A C SNP RFPL3 NM_001098535 human genbank 54_36p +1 validated missense c.526 p.T176P 0.996 HMMSmart_PRY PatternScan_ZF_RING_1,superfamily_SSF57850,HMMPfam_zf-C3HC4,HMMSmart_RING,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY - no_errors SYNJ1 8867 genome.wustl.edu 36 21 32960197 32960197 + Missense_Mutation SNP G G A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 21 32960197 32960197 G A SNP SYNJ1 NM_003895 human genbank 54_36p -1 validated missense c.2072 p.A691V 1.000 superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos HMMPfam_Syja_N,superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD - no_errors CSF2RB 1439 genome.wustl.edu 36 22 35664191 35664191 + Missense_Mutation SNP C G G novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 22 35664191 35664191 C G SNP CSF2RB NM_000395 human genbank 54_36p +1 reviewed missense c.2395 p.R799G 0.000 NULL superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_S_F1 - no_errors LOC645548 645548 genome.wustl.edu 36 3 36784505 36784505 + RNA SNP T T C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 3 36784505 36784505 T C SNP LOC645548 XR_017400 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene SC65 10609 genome.wustl.edu 36 17 37220776 37220776 + Missense_Mutation SNP C T T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 17 37220776 37220776 C T SNP SC65 NM_006455 human genbank 54_36p -1 validated missense c.652 p.G218R 0.998 NULL NULL - no_errors RNF5P1 286140 genome.wustl.edu 36 8 38577681 38577681 + RNA SNP T T C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 8 38577681 38577681 T C SNP RNF5P1 NR_003129 human genbank 54_36p -1 provisional rna NULL NULL 0.998 - - - pseudogene AXUD1 64651 genome.wustl.edu 36 3 39159573 39159573 + Missense_Mutation SNP G G C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 3 39159573 39159573 G C SNP AXUD1 NM_033027 human genbank 54_36p -1 reviewed missense c.1747 p.L583V 0.588 NULL NULL - no_errors SETBP1 26040 genome.wustl.edu 36 18 40535418 40535418 + Missense_Mutation SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 18 40535418 40535418 C A SNP SETBP1 ENST00000383046 human ensembl 54_36p +1 known missense c.109 p.P37T 0.996 NULL NULL - no_errors USP9X 8239 genome.wustl.edu 36 X 40885521 40885521 + Missense_Mutation SNP A A G novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e X 40885521 40885521 A G SNP USP9X NM_001039590 human genbank 54_36p +1 reviewed missense c.1054 p.M352V 1.000 NULL superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors PGC 5225 genome.wustl.edu 36 6 41816238 41816238 + Missense_Mutation SNP G G T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 6 41816238 41816238 G T SNP PGC NM_002630 human genbank 54_36p -1 provisional missense c.736 p.Q246K 0.581 superfamily_Pept_Aspartic,HMMPfam_Asp superfamily_Pept_Aspartic,HMMPfam_A1_Propeptide,HMMPfam_Asp,PatternScan_ASP_PROTEASE - no_errors IRAK4 51135 genome.wustl.edu 36 12 42452384 42452384 + Missense_Mutation SNP C C G novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 12 42452384 42452384 C G SNP IRAK4 NM_016123 human genbank 54_36p +1 reviewed missense c.442 p.P148A 0.085 NULL superfamily_DEATH domain,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220 - no_errors SERINC3 10955 genome.wustl.edu 36 20 42565928 42565928 + Silent SNP G G A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 20 42565928 42565928 G A SNP SERINC3 NM_006811 human genbank 54_36p -1 validated silent c.997 p.L333 0.987 HMMPfam_Serinc HMMPfam_Serinc - no_errors HECW1 23072 genome.wustl.edu 36 7 43513298 43513298 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 7 43513298 43513298 C A SNP HECW1 NM_015052 human genbank 54_36p +1 validated nonsense c.3669 p.Y1223* 1.000 NULL HMMSmart_C2,superfamily_C2_CaLB,HMMPfam_C2,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT - no_errors HNRNPL 3191 genome.wustl.edu 36 19 44019211 44019211 + Silent SNP G G A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 19 44019211 44019211 G A SNP HNRNPL NM_001533 human genbank 54_36p -1 reviewed silent c.1761 p.H587 1.000 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 - no_errors CDC5L 988 genome.wustl.edu 36 6 44472141 44472141 + Silent SNP A A G novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 6 44472141 44472141 A G SNP CDC5L NM_001253 human genbank 54_36p +1 reviewed silent c.525 p.Q175 1.000 NULL superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding - no_errors FNDC3A 22862 genome.wustl.edu 36 13 48478385 48478385 + Missense_Mutation SNP C C G novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 13 48478385 48478385 C G SNP FNDC3A NM_001079673 human genbank 54_36p +1 validated missense c.58 p.L20V 1.000 NULL HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors DNAH1 25981 genome.wustl.edu 36 3 52353572 52353572 + Missense_Mutation SNP C C T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 3 52353572 52353572 C T SNP DNAH1 ENST00000273600 human ensembl 54_36p +1 known missense c.1313 p.A438V 0.009 NULL HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors OLFM4 10562 genome.wustl.edu 36 13 52522435 52522435 + Missense_Mutation SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 13 52522435 52522435 C A SNP OLFM4 NM_006418 human genbank 54_36p +1 reviewed missense c.1061 p.T354N 0.116 HMMPfam_OLF,HMMSmart_OLF HMMPfam_OLF,HMMSmart_OLF - no_errors MSX2P1 55545 genome.wustl.edu 36 17 53589394 53589394 + RNA SNP G A A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 17 53589394 53589394 G A SNP MSX2P1 NR_002307 human genbank 54_36p +1 provisional rna NULL NULL 0.114 - - - pseudogene HUWE1 10075 genome.wustl.edu 36 X 53594852 53594852 + Missense_Mutation SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e X 53594852 53594852 C A SNP HUWE1 NM_031407 human genbank 54_36p -1 validated missense c.9120 p.E3040D 0.999 NULL HMMPfam_DUF908,superfamily_ARM repeat,HMMPfam_DUF913,superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,HMMPfam_WWE,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors HUWE1 10075 genome.wustl.edu 36 X 53689101 53689101 + Missense_Mutation SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e X 53689101 53689101 C A SNP HUWE1 NM_031407 human genbank 54_36p -1 validated missense c.391 p.V131L 1.000 HMMPfam_DUF908 HMMPfam_UBA,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_WWE,superfamily_UBA-like,HMMPfam_DUF908,HMMPfam_DUF913,HMMSmart_SM00165,superfamily_ARM repeat - no_errors CACNA2D3 55799 genome.wustl.edu 36 3 54773403 54773403 + Silent SNP T T A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 3 54773403 54773403 T A SNP CACNA2D3 NM_018398 human genbank 54_36p +1 reviewed silent c.1365 p.A455 0.779 HMMPfam_Cache_1 HMMPfam_VWA_N,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Cache_1 - no_errors RPS6KB1 6198 genome.wustl.edu 36 17 55325462 55325462 + Silent SNP G A A rs56376112 unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 17 55325462 55325462 G A SNP RPS6KB1 NM_003161 human genbank 54_36p +1 reviewed silent c.135 p.E45 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 - no_errors LOC100130849 0 genome.wustl.edu 36 7 56912657 56912657 + Missense_Mutation SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 7 56912657 56912657 C A SNP LOC100130849 XM_001719090 human genbank 54_36p -1 model missense c.251 p.S84I 0.955 NULL NULL - no_errors CDH20 28316 genome.wustl.edu 36 18 57308995 57308995 + Missense_Mutation SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 18 57308995 57308995 C A SNP CDH20 NM_031891 human genbank 54_36p +1 reviewed missense c.229 p.P77T 1.000 superfamily_Cadherin,HMMPfam_Cadherin superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors OR5AZ1P 0 genome.wustl.edu 36 11 57441793 57441793 + Silent SNP G T T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 11 57441793 57441793 G T SNP OR5AZ1P ENST00000319748 human ensembl 54_36p -1 known silent c.486 p.I162 0.002 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SIX1 6495 genome.wustl.edu 36 14 60183000 60183000 + Silent SNP G G A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 14 60183000 60183000 G A SNP SIX1 NM_005982 human genbank 54_36p -1 reviewed silent c.609 p.L203 1.000 NULL superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors MON2 23041 genome.wustl.edu 36 12 61212493 61212493 + Missense_Mutation SNP T T A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 12 61212493 61212493 T A SNP MON2 NM_015026 human genbank 54_36p +1 validated missense c.1409 p.M470K 1.000 NULL superfamily_ARM-type_fold,HMMPfam_DUF1981 - no_errors USP29 57663 genome.wustl.edu 36 19 62332911 62332911 + Silent SNP G G A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 19 62332911 62332911 G A SNP USP29 NM_020903 human genbank 54_36p +1 validated silent c.1056 p.G352 0.000 superfamily_SSF54001,HMMPfam_UCH superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors SLC22A6 9356 genome.wustl.edu 36 11 62508466 62508466 + Silent SNP G G A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 11 62508466 62508466 G A SNP SLC22A6 NM_004790 human genbank 54_36p -1 reviewed silent c.273 p.L91 0.858 NULL HMMPfam_MFS_1,superfamily_MFS general substrate transporter - no_errors KCNH5 27133 genome.wustl.edu 36 14 62553350 62553350 + Missense_Mutation SNP A A G novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 14 62553350 62553350 A G SNP KCNH5 NM_139318 human genbank 54_36p -1 reviewed missense c.149 p.L50P 1.000 superfamily_PYP-like sensor domain (PAS domain) superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS,HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding - no_errors LAS1L 81887 genome.wustl.edu 36 X 64666441 64666441 + Missense_Mutation SNP C C G novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e X 64666441 64666441 C G SNP LAS1L NM_031206 human genbank 54_36p -1 provisional missense c.557 p.C186S 1.000 HMMPfam_Las1 HMMPfam_Las1 - no_errors ACTN3 89 genome.wustl.edu 36 11 66081962 66081962 + Missense_Mutation SNP G G T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 11 66081962 66081962 G T SNP ACTN3 NM_001104 human genbank 54_36p +1 reviewed missense c.1114 p.G372C 1.000 superfamily_Spectrin repeat,HMMPfam_Spectrin superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand_Ca_insen,PatternScan_DEHYDRATASE_SER_THR - pseudogene LRIG1 26018 genome.wustl.edu 36 3 66517235 66517235 + Silent SNP G G T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 3 66517235 66517235 G T SNP LRIG1 NM_015541 human genbank 54_36p -1 validated silent c.1941 p.R647 1.000 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408 HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408 - no_errors FRMD4B 23150 genome.wustl.edu 36 3 69325656 69325656 + Missense_Mutation SNP G G C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 3 69325656 69325656 G C SNP FRMD4B NM_015123 human genbank 54_36p -1 validated missense c.1547 p.A516G 1.000 NULL superfamily_Ubiquitin-like,HMMSmart_SM00295,HMMPfam_FERM_N,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C - no_errors TTYH2 94015 genome.wustl.edu 36 17 69751204 69751204 + Splice_Site SNP G G C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 17 69751204 69751204 G C SNP TTYH2 NM_032646 human genbank 54_36p +1 reviewed splice_site c.731+1 e5+1 1.000 - - - no_errors NONO 4841 genome.wustl.edu 36 X 70436577 70436577 + Missense_Mutation SNP G G T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e X 70436577 70436577 G T SNP NONO NM_007363 human genbank 54_36p +1 reviewed missense c.1342 p.G448C 1.000 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMPfam_NOPS - no_errors DYSF 8291 genome.wustl.edu 36 2 71761736 71761736 + Missense_Mutation SNP T T G novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 2 71761736 71761736 T G SNP DYSF NM_003494 human genbank 54_36p +1 reviewed missense c.6044 p.L2015R 0.994 NULL HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerA,HMMPfam_FerB,HMMSmart_SM00693,HMMSmart_SM00694 - no_errors PSMD7 5713 genome.wustl.edu 36 16 72893659 72893659 + Missense_Mutation SNP G A A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 16 72893659 72893659 G A SNP PSMD7 NM_002811 human genbank 54_36p +1 reviewed missense c.406 p.E136K 1.000 HMMSmart_JAB_MPN HMMPfam_Mov34,HMMSmart_JAB_MPN - no_errors XIST 7503 genome.wustl.edu 36 X 72963833 72963833 + RNA SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e X 72963833 72963833 C A SNP XIST NR_001564 human genbank 54_36p -1 reviewed rna NULL NULL 0.001 - - - no_errors GDA 9615 genome.wustl.edu 36 9 74030496 74030496 + Missense_Mutation SNP T T G novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 9 74030496 74030496 T G SNP GDA NM_004293 human genbank 54_36p +1 validated missense c.798 p.D266E 1.000 HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases - no_errors MAGI2 9863 genome.wustl.edu 36 7 77594576 77594576 + Silent SNP C C T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 7 77594576 77594576 C T SNP MAGI2 NM_012301 human genbank 54_36p -1 reviewed silent c.3297 p.R1099 1.000 NULL superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin,superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1 - no_errors FASN 2194 genome.wustl.edu 36 17 77634686 77634686 + Silent SNP C T T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 17 77634686 77634686 C T SNP FASN NM_004104 human genbank 54_36p -1 reviewed silent c.5337 p.P1779 0.051 superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N superfamily_Thiolase-like,HMMPfam_ketoacyl-synt,PatternScan_B_KETOACYL_SYNTHASE,HMMPfam_Ketoacyl-synt_C,superfamily_FabD/lysophospholipase-like,HMMPfam_Acyl_transf_1,superfamily_Probable ACP-binding domain of malonyl-CoA ACP transacylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_12,superfamily_GroES-like,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N,HMMPfam_adh_short,superfamily_ACP-like,HMMPfam_PP-binding,PatternScan_PHOSPHOPANTETHEINE,superfamily_alpha/beta-Hydrolases,HMMPfam_Thioesterase - no_errors NRXN3 9369 genome.wustl.edu 36 14 78816484 78816484 + Missense_Mutation SNP G G C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 14 78816484 78816484 G C SNP NRXN3 NM_001105250 human genbank 54_36p +1 reviewed missense c.97 p.V33L 1.000 NULL superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMSmart_4.1m - no_errors LIN7A 8825 genome.wustl.edu 36 12 79729467 79729467 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 12 79729467 79729467 G A SNP LIN7A NM_004664 human genbank 54_36p -1 validated nonsense c.610 p.R204* 0.954 superfamily_PDZ domain-like HMMSmart_SM00569,HMMPfam_L27,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors PTEN 5728 genome.wustl.edu 36 10 89701853 89701853 + Splice_Site SNP A A C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 10 89701853 89701853 A C SNP PTEN NM_000314 human genbank 54_36p +1 reviewed splice_site c.493-2 e6-2 1.000 - - - no_errors SCARNA9 0 genome.wustl.edu 36 11 93094571 93094571 + RNA SNP G G A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 11 93094571 93094571 G A SNP SCARNA9 NR_002569 human genbank 54_36p +1 provisional rna NULL NULL 0.271 - - - no_errors C15orf51 196968 genome.wustl.edu 36 15 98148110 98148110 + RNA SNP C G G novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 15 98148110 98148110 C G SNP C15orf51 NR_003260 human genbank 54_36p -1 provisional rna NULL NULL 0.000 - - - pseudogene CHI3L2 1117 genome.wustl.edu 36 1 111582908 111582908 + Missense_Mutation SNP G G T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 1 111582908 111582908 G T SNP CHI3L2 NM_004000 human genbank 54_36p +1 validated missense c.749 p.G250V 0.551 HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat PatternScan_CHITINASE_18,HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat,superfamily_SSF54556 - no_errors DPP10 57628 genome.wustl.edu 36 2 116213820 116213820 + Missense_Mutation SNP T T C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 2 116213820 116213820 T C SNP DPP10 NM_020868 human genbank 54_36p +1 reviewed missense c.733 p.S245P 1.000 superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9 - no_errors KIAA0999 23387 genome.wustl.edu 36 11 116235414 116235414 + Missense_Mutation SNP G G C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 11 116235414 116235414 G C SNP KIAA0999 NM_025164 human genbank 54_36p -1 validated missense c.2224 p.Q742E 1.000 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors TFCP2L1 29842 genome.wustl.edu 36 2 121709281 121709281 + Silent SNP G G A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 2 121709281 121709281 G A SNP TFCP2L1 NM_014553 human genbank 54_36p -1 validated silent c.1080 p.N360 0.999 superfamily_SAM_homology HMMPfam_CP2,superfamily_SAM_homology - no_errors CTBP2 1488 genome.wustl.edu 36 10 126706029 126706029 + Missense_Mutation SNP G G C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 10 126706029 126706029 G C SNP CTBP2 NM_022802 human genbank 54_36p -1 reviewed missense c.290 p.A97G 0.899 NULL superfamily_SSF52283,HMMPfam_2-Hacid_dh,superfamily_NAD(P)-bd,HMMPfam_2-Hacid_dh_C,PatternScan_D_2_HYDROXYACID_DH_3 - no_errors WDR33 55339 genome.wustl.edu 36 2 128242256 128242256 + Nonsense_Mutation SNP T T A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 2 128242256 128242256 T A SNP WDR33 NM_018383 human genbank 54_36p -1 reviewed nonsense c.355 p.K119* 0.998 superfamily_WD40_like,HMMSmart_WD40 PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMPfam_Collagen - no_errors BCORL1 63035 genome.wustl.edu 36 X 128975402 128975402 + Missense_Mutation SNP G T T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e X 128975402 128975402 G T SNP BCORL1 NM_021946 human genbank 54_36p +1 validated missense c.973 p.A325S 0.058 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors PLK4 10733 genome.wustl.edu 36 4 129033084 129033084 + Missense_Mutation SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 4 129033084 129033084 C A SNP PLK4 NM_014264 human genbank 54_36p +1 reviewed missense c.2153 p.S718Y 0.998 superfamily_Kinase_like superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,HMMPfam_Sak_Polo,superfamily_SSF82615 - no_errors LOC643778 643778 genome.wustl.edu 36 6 129520254 129520254 + RNA SNP A A G novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 6 129520254 129520254 A G SNP LOC643778 XR_017181 human genbank 54_36p -1 model rna NULL NULL 0.627 - - - pseudogene TSC1 7248 genome.wustl.edu 36 9 134769650 134769650 + Silent SNP G G T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 9 134769650 134769650 G T SNP TSC1 NM_000368 human genbank 54_36p -1 validated silent c.2010 p.P670 1.000 HMMPfam_Hamartin HMMPfam_Hamartin - no_errors CREB3L2 64764 genome.wustl.edu 36 7 137263584 137263584 + Silent SNP G G C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 7 137263584 137263584 G C SNP CREB3L2 NM_194071 human genbank 54_36p -1 validated silent c.171 p.L57 1.000 NULL superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC - no_errors FLJ43860 389690 genome.wustl.edu 36 8 142515311 142515311 + Missense_Mutation SNP C G G novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 8 142515311 142515311 C G SNP FLJ43860 NM_207414 human genbank 54_36p -1 validated missense c.3439 p.G1147R 0.994 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT - pseudogene GPAA1 8733 genome.wustl.edu 36 8 145212370 145212370 + Missense_Mutation SNP G G A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 8 145212370 145212370 G A SNP GPAA1 NM_003801 human genbank 54_36p +1 reviewed missense c.1451 p.R484Q 1.000 HMMPfam_Gaa1 HMMPfam_Gaa1 - no_errors ZNF16 7564 genome.wustl.edu 36 8 146142254 146142254 + Missense_Mutation SNP G G C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 8 146142254 146142254 G C SNP ZNF16 NM_001029976 human genbank 54_36p -1 reviewed missense c.143 p.P48R 0.001 NULL superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors CGN 57530 genome.wustl.edu 36 1 149774750 149774750 + Missense_Mutation SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 1 149774750 149774750 C A SNP CGN NM_020770 human genbank 54_36p +1 validated missense c.3045 p.D1015E 1.000 HMMPfam_Myosin_tail_1 HMMPfam_Myosin_tail_1 - no_errors PASD1 139135 genome.wustl.edu 36 X 150591467 150591467 + Missense_Mutation SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e X 150591467 150591467 C A SNP PASD1 NM_173493 human genbank 54_36p +1 validated missense c.1594 p.L532M 0.670 NULL HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain) - no_errors ADAMTS4 9507 genome.wustl.edu 36 1 159427926 159427926 + Missense_Mutation SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 1 159427926 159427926 C A SNP ADAMTS4 NM_005099 human genbank 54_36p -1 reviewed missense c.2140 p.V714F 0.465 HMMPfam_ADAM_spacer1 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors PLG 5340 genome.wustl.edu 36 6 161072910 161072910 + Nonsense_Mutation SNP A T T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 6 161072910 161072910 A T SNP PLG NM_000301 human genbank 54_36p +1 validated nonsense c.1582 p.K528* 0.387 HMMSmart_KR,superfamily_Kringle-like,HMMPfam_Kringle HMMPfam_PAN_1,superfamily_SSF57414,HMMSmart_PAN_AP,superfamily_Kringle-like,HMMSmart_KR,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors TTN 7273 genome.wustl.edu 36 2 179116883 179116883 + Nonsense_Mutation SNP G G C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 2 179116883 179116883 G C SNP TTN ENST00000375038 human ensembl 54_36p -1 known nonsense c.84177 p.Y28059* 0.988 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_I-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00408 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors TTN 7273 genome.wustl.edu 36 2 179162782 179162782 + Missense_Mutation SNP T T A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 2 179162782 179162782 T A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.49859 p.Y16620F 1.000 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses - no_errors ZNF804A 91752 genome.wustl.edu 36 2 185439485 185439485 + Splice_Site SNP G G C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 2 185439485 185439485 G C SNP ZNF804A NM_194250 human genbank 54_36p +1 provisional splice_site c.255+1 e2+1 1.000 - - - no_errors USH2A 7399 genome.wustl.edu 36 1 214439975 214439975 + Missense_Mutation SNP G G T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 1 214439975 214439975 G T SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.3428 p.T1143K 0.987 superfamily_Concanavalin A-like lectins/glucanases,superfamily_Fibronectin type III superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,PatternScan_EGF_1,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00282,HMMPfam_Laminin_G_2 - no_errors INPP5D 3635 genome.wustl.edu 36 2 233750686 233750686 + Missense_Mutation SNP C A A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 2 233750686 233750686 C A SNP INPP5D ENST00000359570 human ensembl 54_36p +1 known missense c.1894 p.L632I 1.000 superfamily_Exo_endo_phos,HMMSmart_IPPc,HMMPfam_Exo_endo_phos HMMSmart_SH2,HMMPfam_SH2,superfamily_SSF55550,superfamily_Exo_endo_phos,HMMSmart_IPPc,HMMPfam_Exo_endo_phos - no_errors TFB2M 64216 genome.wustl.edu 36 1 244771090 244771090 + Missense_Mutation SNP G C C novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 1 244771090 244771090 G C SNP TFB2M NM_022366 human genbank 54_36p -1 validated missense c.1057 p.Q353E 0.003 superfamily_SSF53335,HMMPfam_RrnaAD PatternScan_RRNA_A_DIMETH,superfamily_SSF53335,HMMPfam_RrnaAD - no_errors ZNF669 79862 genome.wustl.edu 36 1 245331012 245331012 + Missense_Mutation SNP C C T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 1 245331012 245331012 C T SNP ZNF669 NM_024804 human genbank 54_36p -1 validated missense c.682 p.G228R 0.995 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 - no_errors OR2T3 343173 genome.wustl.edu 36 1 246703368 246703368 + Missense_Mutation SNP C C A novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 1 246703368 246703368 C A SNP OR2T3 NM_001005495 human genbank 54_36p +1 provisional missense c.94 p.L32I 0.201 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR14I1 401994 genome.wustl.edu 36 1 246911779 246911779 + Nonsense_Mutation SNP G G T novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 1 246911779 246911779 G T SNP OR14I1 NM_001004734 human genbank 54_36p -1 provisional nonsense c.450 p.C150* 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LOC100133432 0 genome.wustl.edu 36 11 665163 665165 + In_Frame_Del DEL CAA CAA - novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 CAA CAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 11 665163 665165 CAA - DEL LOC100133432 XM_001714734 human genbank 54_36p -1 model in_frame_del c.2392_2390 p.V797in_frame_del 0.000:0.000:0.000 NULL NULL (deletion:cds_exon[663912,667554]) no_start_codon:pseudogene:no_stop_codon TP53 7157 genome.wustl.edu 36 17 7520046 7520047 + Frame_Shift_Del DEL CA CA - novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 CA CA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 17 7520046 7520047 CA - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.366_365 p.V122fs 0.615:0.928 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 (deletion:cds_exon[7520037,7520315]) no_errors OXA1L 5018 genome.wustl.edu 36 14 22310105 22310129 + Frame_Shift_Del DEL CCTGGTCCAAGTATCCTGTCTCCGG CCTGGTCCAAGTATCCTGTCTCCGG - novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 CCTGGTCCAAGTATCCTGTCTCCGG CCTGGTCCAAGTATCCTGTCTCCGG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 14 22310105 22310129 CCTGGTCCAAGTATCCTGTCTCCGG - DEL OXA1L NM_005015 human genbank 54_36p +1 validated frame_shift_del c.1158_1182 p.L387fs 0.999:1.000:1.000:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:1.000:0.991:0.974:0.973:0.964:0.976:0.998:0.998:1.000:1.000:0.994:1.000:1.000:0.955 HMMPfam_60KD_IMP HMMPfam_60KD_IMP (deletion:cds_exon[22310067,22310229]) no_errors WIPF3 644150 genome.wustl.edu 36 7 29910526 29910552 + Frame_Shift_Del DEL GAATGTAAAACCAGGAATTCTCCTCAG GAATGTAAAACCAGGAATTCTCCTCAG - novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 GAATGTAAAACCAGGAATTCTCCTCAG GAATGTAAAACCAGGAATTCTCCTCAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 7 29910526 29910552 GAATGTAAAACCAGGAATTCTCCTCAG - DEL WIPF3 NM_001080529 human genbank 54_36p +1 provisional frame_shift_del c.1451_1452 p.*484fs 0.011:0.011 NULL HMMPfam_WH2,HMMSmart_WH2 (deletion:cds_exon[29910427,29910527], utr_exon[29910528,29912316]) no_errors WDR48 57599 genome.wustl.edu 36 3 39104656 39104672 + Frame_Shift_Del DEL GAAATGGATATTTTCAA GAAATGGATATTTTCAA - novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 GAAATGGATATTTTCAA GAAATGGATATTTTCAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 3 39104656 39104672 GAAATGGATATTTTCAA - DEL WDR48 NM_020839 human genbank 54_36p +1 provisional frame_shift_del c.1508_1524 p.N504fs 1.000:0.998:1.000:1.000:1.000:1.000:0.998:0.058:0.990:0.999:0.995:1.000:1.000:1.000:1.000:1.000:0.974 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 (deletion:cds_exon[39104623,39104728]) no_errors MACF1 23499 genome.wustl.edu 36 1 39671357 39671383 + In_Frame_Del DEL CAGTCACCGTAGTGAAATCTTTGGCAC CAGTCACCGTAGTGAAATCTTTGGCAC - novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 CAGTCACCGTAGTGAAATCTTTGGCAC CAGTCACCGTAGTGAAATCTTTGGCAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 1 39671357 39671383 CAGTCACCGTAGTGAAATCTTTGGCAC - DEL MACF1 NM_033044 human genbank 54_36p +1 reviewed in_frame_del c.12828_12854 p.FSHRSEIFGT4276in_frame_delL 1.000:1.000:1.000:0.999:1.000:1.000:0.995:0.996:0.997:0.938:0.966:0.997:0.997:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:0.989:0.986:0.953 HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_GAS2 (deletion:cds_exon[39671307,39671414]) no_errors FSHR 2492 genome.wustl.edu 36 2 49043798 49043823 + Frame_Shift_Del DEL CTGTGAGGTAGATGTGGATATAGCAG CTGTGAGGTAGATGTGGATATAGCAG - novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 CTGTGAGGTAGATGTGGATATAGCAG CTGTGAGGTAGATGTGGATATAGCAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 2 49043798 49043823 CTGTGAGGTAGATGTGGATATAGCAG - DEL FSHR NM_000145 human genbank 54_36p -1 reviewed frame_shift_del c.1666_1641 p.C548fs 1.000:0.792:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.890:0.615:0.384:0.207:0.177:0.164:0.188:0.994:1.000:1.000:1.000:1.000:0.988 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 (deletion:cds_exon[49043376,49044609]) no_errors STAT6 6778 genome.wustl.edu 36 12 55787285 55787304 + Frame_Shift_Del DEL TCCATAACAGCTTTTTTCTC TCCATAACAGCTTTTTTCTC - novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 TCCATAACAGCTTTTTTCTC TCCATAACAGCTTTTTTCTC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 12 55787285 55787304 TCCATAACAGCTTTTTTCTC - DEL STAT6 NM_003153 human genbank 54_36p -1 reviewed frame_shift_del c.335_316 p.E106fs 0.998:1.000:1.000:1.000:0.999:0.999:1.000:1.000:1.000:1.000:1.000:0.997:0.996:0.997:0.998:1.000:1.000:1.000:1.000:1.000 superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int,HMMPfam_STAT_alpha,superfamily_STAT,HMMPfam_STAT_bind,superfamily_p53-like transcription factors,superfamily_SH2 domain,HMMPfam_SH2,HMMSmart_SM00252 (deletion:cds_exon[55787281,55787364]) no_errors NAIP 4671 genome.wustl.edu 36 5 70344297 70344327 + Frame_Shift_Del DEL CAAAAGTCTTTAACCTTTTTGCTTCACTGCG CAAAAGTCTTTAACCTTTTTGCTTCACTGCG - novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 CAAAAGTCTTTAACCTTTTTGCTTCACTGCG CAAAAGTCTTTAACCTTTTTGCTTCACTGCG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 5 70344297 70344327 CAAAAGTCTTTAACCTTTTTGCTTCACTGCG - DEL NAIP NM_004536 human genbank 54_36p -1 reviewed frame_shift_del c.202_172 p.R58fs 0.156:0.194:0.227:0.235:0.228:0.282:0.293:0.307:0.320:0.318:0.319:0.409:0.438:0.567:0.698:0.735:0.780:0.827:0.874:0.890:0.968:0.988:0.994:0.996:0.996:0.994:0.992:0.985:0.966:0.962:0.945 superfamily_SSF57924,HMMSmart_BIR superfamily_SSF57924,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMPfam_BIR,HMMSmart_AAA,HMMPfam_NACHT,superfamily_SSF52047 (deletion:cds_exon[70343931,70344498]) no_errors ROBO1 6091 genome.wustl.edu 36 3 78792975 78792993 + Frame_Shift_Del DEL GGATTACCACACTGTTTTT GGATTACCACACTGTTTTT - novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 GGATTACCACACTGTTTTT GGATTACCACACTGTTTTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 3 78792975 78792993 GGATTACCACACTGTTTTT - DEL ROBO1 NM_002941 human genbank 54_36p -1 reviewed frame_shift_del c.2215_2197 p.K733fs 1.000:1.000:1.000:0.998:0.980:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:0.999:1.000:1.000:1.000:1.000:0.997 superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 (deletion:cds_exon[78792870,78793101]) no_errors TAL2 6887 genome.wustl.edu 36 9 107464695 107464697 + In_Frame_Del DEL CCT CCT - novel unknown TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 CCT CCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0f0e8407-547e-4a27-a869-246a768a31d5 8b05f3a2-5815-433c-8120-924838ba5d4e 9 107464695 107464697 CCT - DEL TAL2 NM_005421 human genbank 54_36p +1 reviewed in_frame_del c.97_99 p.P34in_frame_del 1.000:1.000:1.000 HMMPfam_HLH,superfamily_HLH_basic,HMMSmart_HLH HMMPfam_HLH,superfamily_HLH_basic,HMMSmart_HLH (deletion:cds_exon[107464599,107464925]) no_errors