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-ND5 4540 genome.wustl.edu 36 MT 12540 12540 + Nonsense_Mutation SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc MT 12540 12540 G A SNP MT-ND5 ENST00000361567 human ensembl 54_36p +1 known nonsense c.203 p.W68* NULL HMMPfam_Oxidored_q1_N HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C - no_errors KRTAP5-4 387267 genome.wustl.edu 36 11 1599582 1599582 + Silent SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 11 1599582 1599582 G A SNP KRTAP5-4 ENST00000399682 human ensembl 54_36p -1 known silent c.318 p.G106 0.982 NULL PatternScan_MOLYBDOPTERIN_PROK_1,PatternScan_VWFC_1,PatternScan_TNFR_NGFR_1 - no_errors KRTAP5-5 439915 genome.wustl.edu 36 11 1607733 1607733 + Silent SNP A A G novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 11 1607733 1607733 A G SNP KRTAP5-5 NM_001001480 human genbank 54_36p +1 validated silent c.87 p.G29 0.304 NULL PatternScan_MOLYBDOPTERIN_PROK_1,PatternScan_2FE2S_FER_1 - no_errors GNB1 2782 genome.wustl.edu 36 1 1725806 1725806 + Silent SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 1 1725806 1725806 G A SNP GNB1 NM_002074 human genbank 54_36p -1 reviewed silent c.342 p.C114 0.887 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors ZZEF1 23140 genome.wustl.edu 36 17 3946734 3946734 + Missense_Mutation SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 17 3946734 3946734 G A SNP ZZEF1 NM_015113 human genbank 54_36p -1 validated missense c.1682 p.T561M 1.000 NULL superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,superfamily_Galactose-binding domain-like,HMMPfam_APC10,superfamily_Spermadhesin CUB domain,HMMSmart_SM00291,HMMPfam_ZZ,PatternScan_ZF_ZZ_1 - no_errors ADCY9 115 genome.wustl.edu 36 16 4104388 4104388 + Missense_Mutation SNP C C G novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 16 4104388 4104388 C G SNP ADCY9 NM_001116 human genbank 54_36p -1 reviewed missense c.1057 p.E353Q 1.000 HMMSmart_SM00044 HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1 - no_errors LOC100133807 0 genome.wustl.edu 36 9 4691670 4691670 + Missense_Mutation SNP C C G novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 9 4691670 4691670 C G SNP LOC100133807 XM_001714543 human genbank 54_36p -1 model missense c.307 p.A103P 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon C16orf71 146562 genome.wustl.edu 36 16 4727852 4727852 + Silent SNP C C A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 16 4727852 4727852 C A SNP C16orf71 NM_139170 human genbank 54_36p +1 validated silent c.180 p.S60 0.631 NULL NULL - no_errors USP6 9098 genome.wustl.edu 36 17 5013046 5013046 + Silent SNP C A A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 17 5013046 5013046 C A SNP USP6 NM_004505 human genbank 54_36p +1 validated silent c.3489 p.L1163 0.542 superfamily_Cysteine proteinases,HMMPfam_UCH superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors TP53 7157 genome.wustl.edu 36 17 7519186 7519186 + Missense_Mutation SNP C A A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.095 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors LASS4 79603 genome.wustl.edu 36 19 8222031 8222031 + Missense_Mutation SNP A A T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 19 8222031 8222031 A T SNP LASS4 NM_024552 human genbank 54_36p +1 validated missense c.71 p.E24V 0.008 NULL superfamily_Homeodomain-like,HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8 - no_errors SEMA5A 9037 genome.wustl.edu 36 5 9290966 9290966 + Missense_Mutation SNP C C T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 5 9290966 9290966 C T SNP SEMA5A NM_003966 human genbank 54_36p -1 validated missense c.307 p.A103T 1.000 superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1 - no_errors TATDN2 9797 genome.wustl.edu 36 3 10295069 10295069 + Missense_Mutation SNP G G T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 3 10295069 10295069 G T SNP TATDN2 NM_014760 human genbank 54_36p +1 provisional missense c.2068 p.A690S 1.000 superfamily_SSF51556,HMMPfam_TatD_DNase superfamily_SSF51556,PatternScan_TATD_1,HMMPfam_TatD_DNase,PatternScan_TATD_2,PatternScan_TATD_3 - no_errors PRKACA 5566 genome.wustl.edu 36 19 14069295 14069295 + Missense_Mutation SNP C C G novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 19 14069295 14069295 C G SNP PRKACA NM_002730 human genbank 54_36p -1 reviewed missense c.643 p.G215R 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133 - no_errors OR7C2 26658 genome.wustl.edu 36 19 14913654 14913654 + Silent SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 19 14913654 14913654 G A SNP OR7C2 NM_012377 human genbank 54_36p +1 provisional silent c.354 p.T118 1.000 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors CCT8L2 150160 genome.wustl.edu 36 22 15452668 15452668 + Missense_Mutation SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 22 15452668 15452668 G A SNP CCT8L2 NM_014406 human genbank 54_36p -1 validated missense c.773 p.T258M 0.000 superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like - no_errors CDRT1 374286 genome.wustl.edu 36 17 15458039 15458039 + Missense_Mutation SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 17 15458039 15458039 G A SNP CDRT1 NM_006382 human genbank 54_36p -1 provisional missense c.704 p.S235F 0.010 NULL superfamily_F-box domain,HMMPfam_F-box,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors NBAS 51594 genome.wustl.edu 36 2 15611712 15611712 + Missense_Mutation SNP G G C novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 2 15611712 15611712 G C SNP NBAS NM_015909 human genbank 54_36p -1 validated missense c.211 p.P71A 1.000 NULL superfamily_WD40 repeat-like,HMMPfam_Sec39,PatternScan_RIBOSOMAL_S14 - no_errors CECR2 27443 genome.wustl.edu 36 22 16402253 16402253 + Silent SNP C C T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 22 16402253 16402253 C T SNP CECR2 ENST00000400585 human ensembl 54_36p +1 known silent c.2355 p.H785 0.992 NULL superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors IL12RB1 3594 genome.wustl.edu 36 19 18044147 18044147 + Nonsense_Mutation SNP C C A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 19 18044147 18044147 C A SNP IL12RB1 NM_005535 human genbank 54_36p -1 reviewed nonsense c.796 p.E266* 0.041 NULL PatternScan_N6_MTASE,superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_L_F2,HMMSmart_SM00060,HMMPfam_fn3 - no_errors FLJ10357 55701 genome.wustl.edu 36 14 20612804 20612804 + Nonsense_Mutation SNP G G T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 14 20612804 20612804 G T SNP FLJ10357 NM_018071 human genbank 54_36p +1 validated nonsense c.1075 p.G359* 0.050 NULL superfamily_DBL homology domain (DH-domain),superfamily_PH domain-like,HMMSmart_SM00233 - no_errors IGLV3-22 0 genome.wustl.edu 36 22 21377213 21377213 + Missense_Mutation SNP C C T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 22 21377213 21377213 C T SNP IGLV3-22 ENST00000390307 human ensembl 54_36p +1 known missense c.251 p.T84I 0.524 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 - no_stop_codon ANO5 203859 genome.wustl.edu 36 11 22229108 22229108 + Missense_Mutation SNP C A A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 11 22229108 22229108 C A SNP ANO5 NM_213599 human genbank 54_36p +1 validated missense c.1155 p.F385L 1.000 NULL HMMPfam_DUF590 - no_errors ITSN2 50618 genome.wustl.edu 36 2 24387021 24387021 + Missense_Mutation SNP G G C novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 2 24387021 24387021 G C SNP ITSN2 NM_006277 human genbank 54_36p -1 reviewed missense c.394 p.P132A 0.987 NULL superfamily_EF-hand,HMMSmart_SM00027,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1,HMMPfam_SH3_2,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors SUPT7L 9913 genome.wustl.edu 36 2 27733986 27733986 + Silent SNP G G C novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 2 27733986 27733986 G C SNP SUPT7L NM_014860 human genbank 54_36p -1 provisional silent c.474 p.L158 1.000 HMMPfam_Bromo_TP,HMMSmart_SM00576 HMMPfam_Bromo_TP,HMMSmart_SM00576 - no_errors PLB1 151056 genome.wustl.edu 36 2 28696699 28696699 + Missense_Mutation SNP T T C novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 2 28696699 28696699 T C SNP PLB1 NM_153021 human genbank 54_36p +1 validated missense c.3379 p.W1127R 0.950 superfamily_SGNH hydrolase,HMMPfam_Lipase_GDSL superfamily_SGNH hydrolase,PatternScan_LIPASE_GDSL_SER,HMMPfam_Lipase_GDSL - no_errors TRIM10 10107 genome.wustl.edu 36 6 30236522 30236522 + Silent SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 6 30236522 30236522 G A SNP TRIM10 NM_006778 human genbank 54_36p -1 validated silent c.93 p.C31 0.993 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00589,HMMSmart_SM00449,HMMPfam_SPRY - no_errors RFFL 117584 genome.wustl.edu 36 17 30377592 30377592 + Missense_Mutation SNP G G T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 17 30377592 30377592 G T SNP RFFL NM_001017368 human genbank 54_36p -1 validated missense c.94 p.P32T 1.000 superfamily_FYVE/PHD zinc finger superfamily_FYVE/PHD zinc finger,superfamily_SAP domain,superfamily_RING/U-box,HMMSmart_SM00184 - no_errors KRT36 8689 genome.wustl.edu 36 17 36899475 36899475 + Silent SNP G G T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 17 36899475 36899475 G T SNP KRT36 NM_003771 human genbank 54_36p -1 reviewed silent c.168 p.L56 0.612 NULL HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF - no_errors DNAH8 1769 genome.wustl.edu 36 6 38918548 38918548 + Missense_Mutation SNP G G T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 6 38918548 38918548 G T SNP DNAH8 NM_001371 human genbank 54_36p +1 validated missense c.4085 p.W1362L 1.000 HMMPfam_DHC_N2 HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors MFSD2 84879 genome.wustl.edu 36 1 40204245 40204245 + Missense_Mutation SNP C C A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 1 40204245 40204245 C A SNP MFSD2 NM_032793 human genbank 54_36p +1 validated missense c.686 p.T229K 0.946 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter,HMMPfam_MFS_1 - no_errors THADA 63892 genome.wustl.edu 36 2 43672639 43672639 + Missense_Mutation SNP C C T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 2 43672639 43672639 C T SNP THADA NM_001083953 human genbank 54_36p -1 validated missense c.127 p.V43M 0.971 NULL superfamily_ARM repeat,HMMPfam_DUF2428,PatternScan_FORMATE_NITRITE_TP_1 - no_errors KIAA0467 23334 genome.wustl.edu 36 1 43686365 43686365 + Nonsense_Mutation SNP C C T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 1 43686365 43686365 C T SNP KIAA0467 NM_015284 human genbank 54_36p +1 predicted nonsense c.6895 p.Q2299* 1.000 NULL NULL - no_errors TDGF1 6997 genome.wustl.edu 36 3 46596300 46596300 + Nonsense_Mutation SNP C C A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 3 46596300 46596300 C A SNP TDGF1 NM_003212 human genbank 54_36p +1 validated nonsense c.291 p.C97* 0.996 superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_1 PatternScan_EGF_2,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_1,HMMPfam_CFC - no_errors MEP1A 4224 genome.wustl.edu 36 6 46885191 46885191 + Missense_Mutation SNP A A G novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 6 46885191 46885191 A G SNP MEP1A NM_005588 human genbank 54_36p +1 validated missense c.338 p.Y113C 1.000 superfamily_SSF55486,HMMSmart_ZnMc,HMMPfam_Astacin PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF55486,HMMSmart_ZnMc,HMMPfam_Astacin,PatternScan_ZINC_PROTEASE,HMMSmart_MAM,HMMPfam_MAM,PatternScan_MAM_1,superfamily_Traf_like,HMMSmart_MATH,HMMPfam_MATH,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF - no_errors UNC13C 440279 genome.wustl.edu 36 15 52223162 52223162 + Silent SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 15 52223162 52223162 G A SNP UNC13C NM_001080534 human genbank 54_36p +1 provisional silent c.3060 p.Q1020 1.000 NULL superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD - no_errors PODN 127435 genome.wustl.edu 36 1 53316909 53316909 + Missense_Mutation SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 1 53316909 53316909 G A SNP PODN NM_153703 human genbank 54_36p +1 validated missense c.1283 p.R428H 0.999 superfamily_SSF52047 superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,superfamily_SSF52047 - no_errors MC3R 4159 genome.wustl.edu 36 20 54257420 54257420 + Silent SNP C C T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 20 54257420 54257420 C T SNP MC3R NM_019888 human genbank 54_36p +1 reviewed silent c.225 p.V75 0.999 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors DST 667 genome.wustl.edu 36 6 56589127 56589127 + Missense_Mutation SNP T T G novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 6 56589127 56589127 T G SNP DST NM_001723 human genbank 54_36p -1 reviewed missense c.7097 p.Y2366S 0.997 HMMSmart_PLEC,HMMPfam_Plectin HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin - no_errors LPXN 9404 genome.wustl.edu 36 11 58052101 58052101 + Missense_Mutation SNP A A T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 11 58052101 58052101 A T SNP LPXN NM_004811 human genbank 54_36p -1 reviewed missense c.882 p.F294L 0.999 superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM - no_errors ZNF256 10172 genome.wustl.edu 36 19 63145812 63145812 + Missense_Mutation SNP C C A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 19 63145812 63145812 C A SNP ZNF256 NM_005773 human genbank 54_36p -1 validated missense c.176 p.G59V 0.041 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors SYNE2 23224 genome.wustl.edu 36 14 63486448 63486448 + Silent SNP T T A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 14 63486448 63486448 T A SNP SYNE2 NM_182914 human genbank 54_36p +1 validated silent c.561 p.L187 0.996 superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH - no_errors DIS3L 115752 genome.wustl.edu 36 15 64397985 64397985 + Missense_Mutation SNP G G C novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 15 64397985 64397985 G C SNP DIS3L NM_133375 human genbank 54_36p +1 validated missense c.890 p.S297T 1.000 NULL HMMPfam_RNB,PatternScan_RIBONUCLEASE_II - no_errors HYDIN 54768 genome.wustl.edu 36 16 69471049 69471049 + Missense_Mutation SNP A A C novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 16 69471049 69471049 A C SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.10324 p.Y3442D 1.000 NULL superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors PBLD 64081 genome.wustl.edu 36 10 69718426 69718426 + Splice_Site SNP T T G novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 10 69718426 69718426 T G SNP PBLD NM_022129 human genbank 54_36p -1 validated splice_site c.513-2 e7-2 0.960 - - - no_errors GTF2IRD2B 389524 genome.wustl.edu 36 7 74202816 74202816 + Missense_Mutation SNP C C T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 7 74202816 74202816 C T SNP GTF2IRD2B NM_001003795 human genbank 54_36p +1 reviewed missense c.2627 p.T876M 0.929 NULL HMMPfam_GTF2I - no_errors MYST4 23522 genome.wustl.edu 36 10 76418870 76418870 + Missense_Mutation SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 10 76418870 76418870 G A SNP MYST4 NM_012330 human genbank 54_36p +1 validated missense c.2623 p.D875N 1.000 superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_MOZ_SAS "HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_MOZ_SAS" - no_errors CHRNA3 1136 genome.wustl.edu 36 15 76681016 76681016 + Missense_Mutation SNP C C A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 15 76681016 76681016 C A SNP CHRNA3 NM_000743 human genbank 54_36p -1 validated missense c.1023 p.W341C 1.000 superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb - no_errors RSBN1L 222194 genome.wustl.edu 36 7 77246176 77246176 + Missense_Mutation SNP C C G novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 7 77246176 77246176 C G SNP RSBN1L NM_198467 human genbank 54_36p +1 validated missense c.2296 p.P766A 0.969 NULL NULL - no_errors ZFHX4 79776 genome.wustl.edu 36 8 77779715 77779715 + Missense_Mutation SNP G G T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 8 77779715 77779715 G T SNP ZFHX4 NM_024721 human genbank 54_36p +1 validated missense c.837 p.M279I 1.000 superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355 HMMSmart_SM00355,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors ARNT2 9915 genome.wustl.edu 36 15 78587580 78587580 + Silent SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 15 78587580 78587580 G A SNP ARNT2 NM_014862 human genbank 54_36p +1 reviewed silent c.651 p.T217 0.996 HMMPfam_PAS superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3,HMMSmart_SM00086 - no_errors FRAS1 80144 genome.wustl.edu 36 4 79618139 79618139 + Nonsense_Mutation SNP T A A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 4 79618139 79618139 T A SNP FRAS1 NM_025074 human genbank 54_36p +1 reviewed nonsense c.7994 p.L2665* 1.000 NULL HMMSmart_SM00214,HMMSmart_SM00215,PatternScan_VWFC_1,HMMPfam_VWC,superfamily_Growth factor receptor domain,HMMSmart_SM00261,HMMSmart_SM00181 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region LOC643562 643562 genome.wustl.edu 36 6 80830695 80830695 + RNA SNP C C A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 6 80830695 80830695 C A SNP LOC643562 XR_016539 human genbank 54_36p -1 model rna NULL NULL 0.923 - - - pseudogene CRISPLD2 83716 genome.wustl.edu 36 16 83471663 83471663 + Missense_Mutation SNP C C T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 16 83471663 83471663 C T SNP CRISPLD2 NM_031476 human genbank 54_36p +1 validated missense c.1277 p.P426L 0.989 superfamily_LCCL domain,HMMSmart_SM00603,HMMPfam_LCCL superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP,PatternScan_CRISP_2,superfamily_LCCL domain,HMMSmart_SM00603,HMMPfam_LCCL - no_errors LOC152845 152845 genome.wustl.edu 36 4 85385582 85385582 + RNA SNP T T A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 4 85385582 85385582 T A SNP LOC152845 XR_038721 human genbank 54_36p +1 model rna NULL NULL 0.958 - - - pseudogene ENSG00000211602 0 genome.wustl.edu 36 2 89059384 89059384 + Silent SNP A A T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 2 89059384 89059384 A T SNP ENSG00000211602 ENST00000390247 human ensembl 54_36p -1 known silent c.66 p.I22 0.001 HMMPfam_V-set,superfamily_Immunoglobulin HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 - no_stop_codon:bad_bp_length_for_coding_region ENSG00000211622 0 genome.wustl.edu 36 2 89624155 89624155 + Missense_Mutation SNP A A G novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 2 89624155 89624155 A G SNP ENSG00000211622 ENST00000390267 human ensembl 54_36p +1 known missense c.131 p.K44R 0.923 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 - no_stop_codon:bad_bp_length_for_coding_region ENSG00000211623 0 genome.wustl.edu 36 2 89662555 89662555 + Silent SNP C C A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 2 89662555 89662555 C A SNP ENSG00000211623 ENST00000390268 human ensembl 54_36p +1 known silent c.102 p.T34 0.011 HMMPfam_V-set,superfamily_SSF48726 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv - no_stop_codon:bad_bp_length_for_coding_region CATSPERB 79820 genome.wustl.edu 36 14 91261264 91261264 + Missense_Mutation SNP A A T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 14 91261264 91261264 A T SNP CATSPERB NM_024764 human genbank 54_36p -1 validated missense c.81 p.D27E 0.399 NULL NULL - no_errors CHD2 1106 genome.wustl.edu 36 15 91311588 91311588 + Missense_Mutation SNP A C C novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 15 91311588 91311588 A C SNP CHD2 NM_001271 human genbank 54_36p +1 reviewed missense c.2030 p.D677A 1.000 HMMSmart_SM00487,HMMPfam_SNF2_N HMMSmart_SM00298,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Chromo,PatternScan_CHROMO_1,superfamily_Chromo domain-like,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,superfamily_Homeodomain-like - no_errors FAM22F 54754 genome.wustl.edu 36 9 96120982 96120982 + Silent SNP A A T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 9 96120982 96120982 A T SNP FAM22F NM_017561 human genbank 54_36p -1 validated silent c.1857 p.P619 0.001 NULL NULL - no_errors GRIN3A 116443 genome.wustl.edu 36 9 103473128 103473128 + Missense_Mutation SNP A A T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 9 103473128 103473128 A T SNP GRIN3A NM_133445 human genbank 54_36p -1 reviewed missense c.1387 p.F463I 1.000 superfamily_SSF53822 superfamily_SSF53822,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMSmart_PBPe,HMMPfam_Lig_chan - no_errors COL4A1 1282 genome.wustl.edu 36 13 109625048 109625048 + Missense_Mutation SNP T T A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 13 109625048 109625048 T A SNP COL4A1 NM_001845 human genbank 54_36p -1 reviewed missense c.3248 p.E1083V 0.943 HMMPfam_Collagen HMMPfam_Collagen,superfamily_C-type lectin-like,HMMPfam_C4,HMMSmart_SM00111 - no_errors WNT2B 7482 genome.wustl.edu 36 1 112861461 112861461 + Missense_Mutation SNP C C T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 1 112861461 112861461 C T SNP WNT2B NM_024494 human genbank 54_36p +1 reviewed missense c.877 p.R293C 0.678 HMMPfam_wnt,HMMSmart_SM00097 HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1 - no_errors NHLRC2 374354 genome.wustl.edu 36 10 115647941 115647941 + Silent SNP C C G novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 10 115647941 115647941 C G SNP NHLRC2 NM_198514 human genbank 54_36p +1 provisional silent c.1122 p.G374 0.998 superfamily_NHL repeat superfamily_Thioredoxin-like,superfamily_NHL repeat,HMMPfam_NHL - no_errors RAD21 5885 genome.wustl.edu 36 8 117948050 117948050 + Missense_Mutation SNP C C G novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 8 117948050 117948050 C G SNP RAD21 NM_006265 human genbank 54_36p -1 reviewed missense c.100 p.E34Q 1.000 HMMPfam_Rad21_Rec8_N HMMPfam_Rad21_Rec8_N,HMMPfam_Rad21_Rec8 - no_errors SLC30A8 169026 genome.wustl.edu 36 8 118252578 118252578 + Missense_Mutation SNP T T G novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 8 118252578 118252578 T G SNP SLC30A8 NM_173851 human genbank 54_36p +1 validated missense c.954 p.H318Q 0.986 HMMPfam_Cation_efflux HMMPfam_Cation_efflux - no_errors TECTA 7007 genome.wustl.edu 36 11 120506024 120506024 + Missense_Mutation SNP G G T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 11 120506024 120506024 G T SNP TECTA NM_005422 human genbank 54_36p +1 reviewed missense c.2835 p.Q945H 1.000 HMMPfam_C8 HMMSmart_SM00539,HMMPfam_NIDO,HMMSmart_SM00215,HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00181,PatternScan_EGF_2,PatternScan_FA58C_2,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1,superfamily_EGF/Laminin - no_errors WDR40C 340578 genome.wustl.edu 36 X 125126420 125126420 + Missense_Mutation SNP C C T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc X 125126420 125126420 C T SNP WDR40C NM_001013628 human genbank 54_36p -1 provisional missense c.1169 p.S390N 0.000 NULL PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 - no_errors FLJ30058 158763 genome.wustl.edu 36 X 130050325 130050325 + Missense_Mutation SNP C C A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc X 130050325 130050325 C A SNP FLJ30058 NM_144967 human genbank 54_36p +1 validated missense c.1529 p.S510Y 1.000 NULL superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors SLC45A4 57210 genome.wustl.edu 36 8 142291574 142291574 + Silent SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 8 142291574 142291574 G A SNP SLC45A4 NM_001080431 human genbank 54_36p -1 provisional silent c.2052 p.A684 0.000 NULL HMMPfam_MFS_1,superfamily_MFS general substrate transporter - no_errors PRRG3 79057 genome.wustl.edu 36 X 150620152 150620152 + Silent SNP T T G novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc X 150620152 150620152 T G SNP PRRG3 NM_024082 human genbank 54_36p +1 provisional silent c.687 p.A229 0.060 NULL HMMSmart_GLA,superfamily_VitK_dep_GLA,HMMPfam_Gla,PatternScan_GLA_1 - no_errors NUP210L 91181 genome.wustl.edu 36 1 152368383 152368383 + Missense_Mutation SNP A A T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 1 152368383 152368383 A T SNP NUP210L NM_207308 human genbank 54_36p -1 validated missense c.1072 p.F358I 1.000 NULL superfamily_Invasin_intimin,HMMSmart_BID_2,HMMPfam_Big_2 - no_errors LOC149501 149501 genome.wustl.edu 36 1 155310601 155310601 + RNA SNP C C T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 1 155310601 155310601 C T SNP LOC149501 XR_017100 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene MME 4311 genome.wustl.edu 36 3 156338625 156338625 + Missense_Mutation SNP G G C novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 3 156338625 156338625 G C SNP MME NM_000902 human genbank 54_36p +1 reviewed missense c.761 p.R254T 0.772 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13_N" "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13" - no_errors IGSF9 57549 genome.wustl.edu 36 1 158171137 158171137 + Missense_Mutation SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 1 158171137 158171137 G A SNP IGSF9 NM_020789 human genbank 54_36p -1 validated missense c.773 p.T258I 1.000 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00408 HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00408,HMMPfam_I-set,HMMPfam_ig,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors C1orf192 257177 genome.wustl.edu 36 1 159602078 159602078 + Missense_Mutation SNP C C T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 1 159602078 159602078 C T SNP C1orf192 NM_001013625 human genbank 54_36p -1 predicted missense c.210 p.M70I 1.000 NULL NULL - no_errors KCNMB1 3779 genome.wustl.edu 36 5 169738420 169738420 + Missense_Mutation SNP A A T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 5 169738420 169738420 A T SNP KCNMB1 NM_004137 human genbank 54_36p -1 reviewed missense c.442 p.F148I 0.599 HMMPfam_CaKB HMMPfam_CaKB - no_errors TTN 7273 genome.wustl.edu 36 2 179187895 179187895 + Silent SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 2 179187895 179187895 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known silent c.36630 p.R12210 0.997 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III 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 DNAH7 56171 genome.wustl.edu 36 2 196530320 196530320 + Silent SNP A A T novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 2 196530320 196530320 A T SNP DNAH7 NM_018897 human genbank 54_36p -1 validated silent c.2988 p.S996 1.000 HMMPfam_DHC_N2 HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,PatternScan_EF_HAND_1,HMMPfam_Dynein_heavy,PatternScan_ADH_SHORT - no_errors AURKAPS1 6791 genome.wustl.edu 36 1 218506442 218506442 + RNA SNP G G A novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 1 218506442 218506442 G A SNP AURKAPS1 NR_001587 human genbank 54_36p -1 provisional rna NULL NULL 0.236 - - - pseudogene MOSPD2 158747 genome.wustl.edu 36 X 14846755 14846758 + Frame_Shift_Del DEL CAAA CAAA - novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 CAAA CAAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc X 14846755 14846758 CAAA - DEL MOSPD2 NM_152581 human genbank 54_36p +1 provisional frame_shift_del c.1349_1352 p.N451fs 1.000:0.996:0.996:0.994 NULL superfamily_CRAL/TRIO N-terminal domain,superfamily_CRAL/TRIO domain,HMMSmart_SM00516,HMMPfam_CRAL_TRIO,HMMPfam_Motile_Sperm,superfamily_PapD-like (deletion:cds_exon[14846723,14846825]) no_errors C10orf140 387640 genome.wustl.edu 36 10 21845472 21845473 + In_Frame_Ins INS - - CCTCCT novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 10 21845472 21845473 - CCTCCT INS C10orf140 NM_207371 human genbank 54_36p -1 validated in_frame_ins c.1286_1285 p.429in_frame_insEE 0.990:1.000 NULL superfamily_Putative DNA-binding domain,HMMPfam_Ski_Sno,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors KRTAP9-5 85279 genome.wustl.edu 36 17 36665196 36665197 + In_Frame_Ins INS - - ACCTGCTGCAGGACC novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 17 36665196 36665197 - ACCTGCTGCAGGACC INS KRTAP9-5 ENST00000394008 human ensembl 54_36p +1 known in_frame_ins c.33_34 p.15in_frame_insTTCCR 0.024:0.014 HMMPfam_Keratin_B2 HMMPfam_Keratin_B2 - no_errors CYB561 1534 genome.wustl.edu 36 17 58868490 58868502 + Frame_Shift_Del DEL TGAACTGCAGGTC TGAACTGCAGGTC - novel unknown TCGA-20-1687-01A-01W-0633-09 TCGA-20-1687-10A-01W-0633-09 TGAACTGCAGGTC TGAACTGCAGGTC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 463e0262-355d-409c-8b11-349e57838c0e e02415f3-1e9b-4a00-ae4b-4cdd7a2db1fc 17 58868490 58868502 TGAACTGCAGGTC - DEL CYB561 NM_001017916 human genbank 54_36p -1 validated frame_shift_del c.151_139 p.D47fs 1.000:0.985:1.000:1.000:1.000:1.000:0.988:0.985:0.989:1.000:0.998:0.998:0.995 HMMPfam_Cytochrom_B561 HMMPfam_Cytochrom_B561,HMMSmart_SM00665 (deletion:cds_exon[58868439,58868640]) no_errors