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 SLC6A17 388662 genome.wustl.edu 36 1 110539769 110539780 + In_Frame_Del DEL TTCGTCCAGCGC TTCGTCCAGCGC - novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 TTCGTCCAGCGC TTCGTCCAGCGC TTCGTCCAGCGC - TTCGTCCAGCGC TTCGTCCAGCGC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 1 110539769 110539780 TTCGTCCAGCGC - DEL SLC6A17 NM_001010898 human genbank 54_36p 1 validated in_frame_del c.1531_1542 p.FVQR511in_frame_del 1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.996 HMMPfam_SNF HMMPfam_SNF (deletion:cds_exon[110539731;110539890]) no_errors C1orf103 55791 genome.wustl.edu 36 1 111292268 111292268 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 1 111292268 111292268 G C SNP C1orf103 NM_018372 human genbank 54_36p -1 validated missense c.2146 p.Q716E 0.69 NULL - - no_errors NPPB 4879 genome.wustl.edu 36 1 11841068 11841068 + Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 1 11841068 11841068 C A SNP NPPB NM_002521 human genbank 54_36p -1 reviewed nonsense c.178 p.E60* NULL - - no_errors FCGR1A 2209 genome.wustl.edu 36 1 148028407 148028407 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 1 148028407 148028407 T C SNP FCGR1A NM_000566 human genbank 54_36p 1 reviewed missense c.733 p.Y245H 0.58 NULL - - no_errors MTMR11 10903 genome.wustl.edu 36 1 148174218 148174218 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 1 148174218 148174218 C G SNP MTMR11 ENST00000361405 human ensembl 54_36p -1 known missense c.84 p.E28D 1 NULL - - no_start_codon GON4L 54856 genome.wustl.edu 36 1 153993466 153993466 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 1 153993466 153993466 C T SNP GON4L NM_001037533 human genbank 54_36p -1 validated silent c.5424 p.L1808 1 NULL - - no_errors C1orf92 149499 genome.wustl.edu 36 1 155164045 155164045 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 1 155164045 155164045 G A SNP C1orf92 NM_144702 human genbank 54_36p 1 validated missense c.151 p.D51N 0.999 NULL - - no_errors ARID1A 8289 genome.wustl.edu 36 1 26960004 26960004 + Nonsense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 1 26960004 26960004 C G SNP ARID1A NM_006015 human genbank 54_36p 1 reviewed nonsense c.1991 p.S664* 1 NULL - - no_errors FNDC5 252995 genome.wustl.edu 36 1 33106019 33106019 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 1 33106019 33106019 T A SNP FNDC5 NM_153756 human genbank 54_36p -1 provisional missense c.196 p.M66L 1 NULL - - no_errors DFFB 1677 genome.wustl.edu 36 1 3772119 3772119 + Silent SNP T T C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 1 3772119 3772119 T C SNP DFFB ENST00000378212 human ensembl 54_36p 1 known silent c.294 p.P98 NULL - - no_errors MAST2 23139 genome.wustl.edu 36 1 46274325 46274325 + Nonstop_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 1 46274325 46274325 G C SNP MAST2 NM_015112 human genbank 54_36p 1 validated nonstop c.5397 p.*1799Y 0.78 NULL - - no_errors USP24 23358 genome.wustl.edu 36 1 55316852 55316852 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 1 55316852 55316852 A G SNP USP24 NM_015306 human genbank 54_36p -1 validated missense c.6781 p.Y2261H 1 NULL - - no_errors LRRC7 57554 genome.wustl.edu 36 1 70291391 70291391 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 1 70291391 70291391 T A SNP LRRC7 NM_020794 human genbank 54_36p 1 validated missense c.4091 p.V1364E 1 NULL HMMPfam_PDZ;superfamily_PDZ domain-like;HMMPfam_LRR_1;superfamily_RNI-like;superfamily_L domain-like - no_errors TGFBR3 7049 genome.wustl.edu 36 1 91936263 91936263 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 1 91936263 91936263 C G SNP TGFBR3 NM_003243 human genbank 54_36p -1 validated missense c.2300 p.S767T 0.23 NULL HMMPfam_Zona_pellucida - no_errors LZTS2 84445 genome.wustl.edu 36 10 102753671 102753673 + In_Frame_Del DEL TCC TCC - novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 TCC TCC TCC - TCC TCC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 10 102753671 102753673 TCC - DEL LZTS2 NM_032429 human genbank 54_36p 1 provisional in_frame_del c.826_828 p.S279in_frame_del 0.987:0.996:0.980 NULL - (deletion:cds_exon[102753254;102753913]) no_errors TAF5 6877 genome.wustl.edu 36 10 105132993 105132993 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 10 105132993 105132993 C G SNP TAF5 NM_006951 human genbank 54_36p 1 reviewed missense c.1543 p.L515V 1 NULL HMMPfam_WD40;HMMPfam_TFIID_90kDa;superfamily_WD40 repeat-like - no_errors CALHM1 255022 genome.wustl.edu 36 10 105208155 105208155 + Missense_Mutation SNP A A C Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A C A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 10 105208155 105208155 A C SNP CALHM1 NM_001001412 human genbank 54_36p -1 validated missense c.344 p.V115G 1 NULL - - no_errors NSUN6 221078 genome.wustl.edu 36 10 18980066 18980066 + Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 10 18980066 18980066 C A SNP NSUN6 NM_182543 human genbank 54_36p -1 validated nonsense c.73 p.E25* 1 NULL - - no_errors LDB3 11155 genome.wustl.edu 36 10 88441666 88441666 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 10 88441666 88441666 C T SNP LDB3 NM_007078 human genbank 54_36p 1 reviewed silent c.723 p.S241 1 NULL - - no_errors PTEN 5728 genome.wustl.edu 36 10 89701885 89701885 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 10 89701885 89701885 G T SNP PTEN NM_000314 human genbank 54_36p 1 reviewed missense c.523 p.V175L 1 NULL DSPc;HMMPfam_DSPc;C2 domain (Calcium/lipid-binding domain CaLB);superfamily_C2 domain (Calcium/lipid-binding domain CaLB);(Phosphotyrosine protein) phosphatases II;superfamily_(Phosphotyrosine protein) phosphatases II - no_errors LOC119358 119358 genome.wustl.edu 36 10 91728509 91728509 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 10 91728509 91728509 G A SNP LOC119358 XM_061427 human genbank 54_36p 1 model missense c.56 p.R19Q 1 NULL HMMPfam_LSM;superfamily_Sm-like ribonucleoproteins - no_errors LOC387703 387703 genome.wustl.edu 36 10 94958431 94958431 + RNA SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 10 94958431 94958431 G T SNP LOC387703 XR_016730 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene CYP2C9 1559 genome.wustl.edu 36 10 96721970 96721970 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 10 96721970 96721970 G A SNP CYP2C9 NM_000771 human genbank 54_36p 1 reviewed silent c.939 p.L313 0.99 HMMPfam_p450 HMMPfam_p450;superfamily_Cytochrome P450 - no_errors SLIT1 6585 genome.wustl.edu 36 10 98814622 98814622 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 10 98814622 98814622 G C SNP SLIT1 NM_003061 human genbank 54_36p -1 validated missense c.487 p.Q163E 1 HMMPfam_LRR_1 HMMPfam_LRRNT;HMMPfam_LRRCT;HMMPfam_LRR_1;HMMPfam_EGF;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_Laminin_G_2;superfamily_L domain-like;superfamily_EGF/Laminin - no_errors MMP8 4317 genome.wustl.edu 36 11 102092270 102092270 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 11 102092270 102092270 C A SNP MMP8 NM_002424 human genbank 54_36p -1 reviewed missense c.875 p.R292L 0.98 HMMPfam_Hemopexin "HMMPfam_Hemopexin;superfamily_Hemopexin-like domain;HMMPfam_Peptidase_M10;HMMPfam_PG_binding_1;superfamily_PGBD-like;superfamily_Metalloproteases (""zincins"") catalytic domain" - no_errors CREB3L1 90993 genome.wustl.edu 36 11 46294513 46294513 + Splice_Site SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 11 46294513 46294513 G T SNP CREB3L1 ENST00000288400 human ensembl 54_36p 1 known splice_site c.1131+1 e9+1 1 - - - no_errors PSMC3 5702 genome.wustl.edu 36 11 47401073 47401073 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 11 47401073 47401073 T G SNP PSMC3 NM_002804 human genbank 54_36p -1 reviewed missense c.619 p.N207H 1 NULL - - no_errors OR4C46 119749 genome.wustl.edu 36 11 51372438 51372438 + Missense_Mutation SNP A A T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 11 51372438 51372438 A T SNP OR4C46 NM_001004703 human genbank 54_36p 1 provisional missense c.581 p.E194V NULL - - no_errors OR5D16 390144 genome.wustl.edu 36 11 55362906 55362906 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 11 55362906 55362906 G C SNP OR5D16 NM_001005496 human genbank 54_36p 1 provisional missense c.103 p.A35P NULL - - no_errors PGA3 643834 genome.wustl.edu 36 11 60728299 60728299 + Silent SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 11 60728299 60728299 C A SNP PGA3 NM_001079807 human genbank 54_36p 1 validated silent c.201 p.P67 0.19 NULL - - no_errors SLC22A11 55867 genome.wustl.edu 36 11 64080374 64080374 + Silent SNP C C T Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 11 64080374 64080374 C T SNP SLC22A11 NM_018484 human genbank 54_36p 1 reviewed silent c.327 p.D109 0.038 NULL - - no_errors DHCR7 1717 genome.wustl.edu 36 11 70830965 70830965 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 11 70830965 70830965 G A SNP DHCR7 NM_001360 human genbank 54_36p -1 validated missense c.404 p.T135I 1 NULL HMMPfam_ERG4_ERG24 - no_errors FOLR1 2348 genome.wustl.edu 36 11 71584666 71584666 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 11 71584666 71584666 G A SNP FOLR1 NM_000802 human genbank 54_36p 1 reviewed missense c.571 p.E191K 0.38 NULL - - no_errors ACACB 32 genome.wustl.edu 36 12 108138838 108138838 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 12 108138838 108138838 C G SNP ACACB NM_001093 human genbank 54_36p 1 reviewed missense c.3383 p.T1128R 0.39 HMMPfam_ACC_central HMMPfam_Carboxyl_trans;HMMPfam_Biotin_lipoyl;HMMPfam_CPSase_L_D2;HMMPfam_CPSase_L_chain;HMMPfam_Biotin_carb_C;superfamily_Single hybrid motif;superfamily_Rudiment single hybrid motif;HMMPfam_ACC_central;superfamily_ClpP/crotonase;superfamily_PreATP-grasp domain;superfamily_Glutathione synthetase ATP-binding domain-like - no_errors SH2B3 10019 genome.wustl.edu 36 12 110369574 110369574 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 12 110369574 110369574 C G SNP SH2B3 NM_005475 human genbank 54_36p 1 validated missense c.1079 p.S360C 1 NULL HMMPfam_SH2,HMMPfam_PH,HMMPfam_Phe_ZIP,superfamily_Phenylalanine zipper,superfamily_PH domain-like,superfamily_SH2 domain - no_errors KNTC1 9735 genome.wustl.edu 36 12 121618772 121618772 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 12 121618772 121618772 G T SNP KNTC1 NM_014708 human genbank 54_36p 1 reviewed missense c.1616 p.W539L 1 NULL superfamily_WD40 repeat-like;superfamily_PAH2 domain;superfamily_Actin-like ATPase domain - no_errors BRI3BP 140707 genome.wustl.edu 36 12 124063063 124063063 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 12 124063063 124063063 C A SNP BRI3BP NM_080626 human genbank 54_36p 1 validated missense c.244 p.L82M 0.75 NULL - - no_errors STK38L 23012 genome.wustl.edu 36 12 27353314 27353314 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 12 27353314 27353314 G C SNP STK38L NM_015000 human genbank 54_36p 1 validated missense c.310 p.V104L 1 HMMPfam_Pkinase HMMPfam_Pkinase;HMMPfam_Pkinase_C;superfamily_Protein kinase-like (PK-like) - no_errors HNRNPA1 3178 genome.wustl.edu 36 12 52961503 52961503 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 12 52961503 52961503 G A SNP HNRNPA1 NM_031157 human genbank 54_36p 1 reviewed missense c.82 p.E28K 1 NULL - - no_errors NCKAP1L 3071 genome.wustl.edu 36 12 53216270 53216270 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 12 53216270 53216270 C G SNP NCKAP1L NM_005337 human genbank 54_36p 1 reviewed missense c.3047 p.S1016C 0.34 NULL superfamily_Nuclear receptor ligand-binding domain - no_errors ATN1 1822 genome.wustl.edu 36 12 6918599 6918599 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 12 6918599 6918599 C T SNP ATN1 NM_001007026 human genbank 54_36p 1 reviewed missense c.3212 p.A1071V 1 HMMPfam_Atrophin-1 HMMPfam_Atrophin-1 - no_errors PPFIA2 8499 genome.wustl.edu 36 12 80271202 80271202 + Silent SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 12 80271202 80271202 T A SNP PPFIA2 NM_003625 human genbank 54_36p -1 reviewed silent c.1821 p.G607 1 NULL HMMPfam_SAM_1,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 - no_errors CEP290 80184 genome.wustl.edu 36 12 86978787 86978787 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 12 86978787 86978787 A G SNP CEP290 NM_025114 human genbank 54_36p -1 reviewed missense c.6473 p.L2158S 0.61 NULL superfamily_Spectrin repeat;superfamily_Translin - no_errors TPTE2 93492 genome.wustl.edu 36 13 18954660 18954660 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 13 18954660 18954660 T G SNP TPTE2 NM_199254 human genbank 54_36p -1 validated missense c.147 p.E49D 0 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_Voltage-gated potassium channels - no_errors MTUS2 23281 genome.wustl.edu 36 13 28796764 28796764 + Missense_Mutation SNP G A A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 13 28796764 28796764 G A SNP KIAA0774 NM_001033602 human genbank 54_36p 1 validated missense c.2851 p.A951T 0.07 NULL - - no_errors RFXAP 5994 genome.wustl.edu 36 13 36292092 36292092 + Nonsense_Mutation SNP G G T Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 13 36292092 36292092 G T SNP RFXAP NM_000538 human genbank 54_36p 1 reviewed nonsense c.598 p.E200* 1 NULL - - no_errors CLEC14A 161198 genome.wustl.edu 36 14 37793534 37793534 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 14 37793534 37793534 T C SNP CLEC14A NM_175060 human genbank 54_36p -1 provisional missense c.1445 p.E482G 0.004 NULL - - no_errors GPX2 2877 genome.wustl.edu 36 14 64476019 64476019 + Silent SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 14 64476019 64476019 G C SNP GPX2 NM_002083 human genbank 54_36p -1 reviewed silent c.513 p.R171 1 NULL HMMPfam_GSHPx;superfamily_Thioredoxin-like - pseudogene DCAF5 8816 genome.wustl.edu 36 14 68591701 68591701 + Silent SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 14 68591701 68591701 G T SNP WDR22 NM_003861 human genbank 54_36p -1 validated silent c.1455 p.P485 1 NULL HMMPfam_WD40;superfamily_WD40 repeat-like - no_errors MGA 23269 genome.wustl.edu 36 15 39828708 39828709 + Frame_Shift_Ins INS - - A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 - - - A - - Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 15 39828708 39828709 - A INS MGA NM_001080541 human genbank 54_36p 1 provisional frame_shift_ins c.5758_5759 p.V1920fs 1.000:1.000 NULL - - no_errors EHD4 30844 genome.wustl.edu 36 15 40033268 40033268 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 15 40033268 40033268 G A SNP EHD4 NM_139265 human genbank 54_36p -1 provisional silent c.399 p.N133 1 NULL - - no_errors DIS3L 115752 genome.wustl.edu 36 15 64405758 64405758 + Splice_Site SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 15 64405758 64405758 T G SNP DIS3L NM_133375 human genbank 54_36p 1 validated splice_site c.1952+2 e11+2 1 - - - no_errors ENSG00000222964 0 genome.wustl.edu 36 15 73864775 73864775 + RNA SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 15 73864775 73864775 C T SNP ENSG00000222964 ENST00000411032 human ensembl 54_36p 1 novel rna NULL NULL 0.2 - - - no_errors BTBD1 53339 genome.wustl.edu 36 15 81516183 81516183 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 15 81516183 81516183 G C SNP BTBD1 NM_025238 human genbank 54_36p -1 reviewed missense c.520 p.H174D 1 NULL - - no_errors PDE8A 5151 genome.wustl.edu 36 15 83411368 83411368 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 15 83411368 83411368 G A SNP PDE8A NM_002605 human genbank 54_36p 1 validated silent c.363 p.L121 1 HMMPfam_Response_reg HMMPfam_Response_reg;HMMPfam_PDEase_I;superfamily_CheY-like;HMMPfam_PAS;HMMPfam_PDE8;superfamily_HD-domain/PDEase-like;superfamily_PYP-like sensor domain (PAS domain) - no_errors MAN2A2 4122 genome.wustl.edu 36 15 89251066 89251066 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 15 89251066 89251066 C G SNP MAN2A2 NM_006122 human genbank 54_36p 1 validated missense c.928 p.L310V 1 HMMPfam_Glyco_hydro_38 HMMPfam_Glyco_hydro_38;superfamily_Galactose mutarotase-like;superfamily_Glycoside hydrolase/deacetylase;HMMPfam_Glyco_hydro_38C;HMMPfam_Alpha-mann_mid;superfamily_Families 57/38 glycoside transferase middle domain - no_errors LOC642451 642451 genome.wustl.edu 36 16 11028662 11028662 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 16 11028662 11028662 A C SNP LOC642451 XM_926336 human genbank 54_36p 1 model missense c.308 p.E103A 0.89 NULL - - pseudogene SEPX1 51734 genome.wustl.edu 36 16 1930805 1930805 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 16 1930805 1930805 G T SNP SEPX1 ENST00000399753 human ensembl 54_36p -1 known missense c.658 p.Q220K 1 NULL - - no_errors DNAH3 55567 genome.wustl.edu 36 16 21000511 21000511 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 16 21000511 21000511 T G SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.2916 p.E972D 0.39 NULL - - no_errors LOC100131998 100131998 genome.wustl.edu 36 16 22348687 22348687 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 16 22348687 22348687 C T SNP LOC100131998 XM_001725049 human genbank 54_36p -1 model missense c.152 p.G51E 1 NULL - - pseudogene SALL1 6299 genome.wustl.edu 36 16 49731904 49731904 + Missense_Mutation SNP G G T Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 16 49731904 49731904 G T SNP SALL1 NM_002968 human genbank 54_36p -1 reviewed missense c.1730 p.P577H 1 NULL HMMPfam_zf-C2H2,superfamily_C2H2 and C2HC zinc fingers - no_errors SEC14L5 9717 genome.wustl.edu 36 16 4995935 4995935 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 16 4995935 4995935 A G SNP SEC14L5 NM_014692 human genbank 54_36p 1 validated missense c.1322 p.E441G 1 NULL - - no_errors NLRC5 84166 genome.wustl.edu 36 16 55646900 55646900 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 16 55646900 55646900 G A SNP NLRC5 NM_032206 human genbank 54_36p 1 validated silent c.3714 p.L1238 0.24 NULL HMMPfam_LRR_1;HMMPfam_NACHT;superfamily_RNI-like;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors PMFBP1 83449 genome.wustl.edu 36 16 70731875 70731875 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 16 70731875 70731875 C T SNP PMFBP1 NM_031293 human genbank 54_36p -1 provisional silent c.744 p.K248 1 NULL - - no_errors MYH8 4626 genome.wustl.edu 36 17 10244527 10244527 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 17 10244527 10244527 G T SNP MYH8 NM_002472 human genbank 54_36p -1 validated missense c.3640 p.Q1214K 1 HMMPfam_Myosin_tail_1 HMMPfam_IQ;HMMPfam_Myosin_head;HMMPfam_Myosin_tail_1;HMMPfam_Myosin_N;superfamily_Prefoldin;superfamily_t-snare proteins;superfamily_Spectrin repeat;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors RHOT1 55288 genome.wustl.edu 36 17 27527332 27527332 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 17 27527332 27527332 G C SNP RHOT1 NM_001033568 human genbank 54_36p 1 validated missense c.316 p.D106H 1 HMMPfam_Miro HMMPfam_efhand;HMMPfam_EF_assoc_1;HMMPfam_EF_assoc_2;HMMPfam_Miro;superfamily_EF-hand;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors CDK5R1 8851 genome.wustl.edu 36 17 27839273 27839273 + Silent SNP C T T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C T T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 17 27839273 27839273 C T SNP CDK5R1 NM_003885 human genbank 54_36p 1 reviewed silent c.522 p.P174 1 HMMPfam_CDK5_activator HMMPfam_CDK5_activator;superfamily_Cyclin-like - no_errors DDX52 11056 genome.wustl.edu 36 17 33064181 33064181 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 17 33064181 33064181 C A SNP DDX52 NM_007010 human genbank 54_36p -1 validated missense c.739 p.A247S 1 HMMPfam_DEAD HMMPfam_Helicase_C;HMMPfam_DEAD;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors KIF18B 146909 genome.wustl.edu 36 17 40366915 40366915 + Missense_Mutation SNP T C C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 17 40366915 40366915 T C SNP KIF18B NM_001080443 human genbank 54_36p -1 provisional missense c.964 p.T322A 0.999 NULL - - no_errors PFAS 5198 genome.wustl.edu 36 17 8099559 8099559 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 17 8099559 8099559 G A SNP PFAS NM_012393 human genbank 54_36p 1 reviewed silent c.399 p.P133 NULL HMMPfam_AIRS;HMMPfam_AIRS_C;superfamily_FGAM synthase PurL linker domain;superfamily_Class I glutamine amidotransferase-like;superfamily_PurM N-terminal domain-like;superfamily_PurM C-terminal domain-like;superfamily_PurS-like - no_errors CIDEA 1149 genome.wustl.edu 36 18 12264107 12264107 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 18 12264107 12264107 C A SNP CIDEA NM_198289 human genbank 54_36p 1 reviewed missense c.448 p.P150T 0.33 NULL HMMPfam_CIDE-N;superfamily_CAD PB1 domains - no_errors MC5R 4161 genome.wustl.edu 36 18 13816421 13816421 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 18 13816421 13816421 C T SNP MC5R NM_005913 human genbank 54_36p 1 provisional silent c.657 p.I219 0.59 NULL - - no_errors NPC1 257641 genome.wustl.edu 36 18 19372552 19372552 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 18 19372552 19372552 A C SNP NPC1 NM_000271 human genbank 54_36p -1 validated missense c.2993 p.F998C 1 HMMPfam_Patched HMMPfam_Patched;superfamily_Multidrug efflux transporter AcrB transmembrane domain - no_errors MYOM1 8736 genome.wustl.edu 36 18 3069264 3069264 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 18 3069264 3069264 G C SNP MYOM1 NM_003803 human genbank 54_36p -1 reviewed missense c.4561 p.P1521A 1 NULL HMMPfam_fn3;superfamily_Fibronectin type III;HMMPfam_I-set;superfamily_Immunoglobulin - no_errors ALPK2 115701 genome.wustl.edu 36 18 54356376 54356376 + Missense_Mutation SNP C C G Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 18 54356376 54356376 C G SNP ALPK2 NM_052947 human genbank 54_36p -1 validated missense c.2023 p.E675Q 0.053 NULL - - no_errors CDH19 28513 genome.wustl.edu 36 18 62329838 62329838 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 18 62329838 62329838 T A SNP CDH19 NM_021153 human genbank 54_36p -1 reviewed missense c.1523 p.N508I 0.78 HMMPfam_Cadherin HMMPfam_Cadherin_C;HMMPfam_Cadherin;superfamily_Cadherin-like - no_errors ZNF833P 401898 genome.wustl.edu 36 19 11657542 11657542 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 19 11657542 11657542 T A SNP ZNF833 NM_001013691 human genbank 54_36p 1 validated missense c.501 p.S167R 0.01 NULL - - no_errors DAND5 199699 genome.wustl.edu 36 19 12941509 12941509 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 19 12941509 12941509 T G SNP DAND5 NM_152654 human genbank 54_36p 1 reviewed missense c.35 p.L12R 0.11 NULL - - no_errors DCAF15 90379 genome.wustl.edu 36 19 13931608 13931608 + Silent SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 19 13931608 13931608 A G SNP LOC90379 NM_138353 human genbank 54_36p 1 predicted silent c.1341 p.T447 0.71 NULL - - no_errors OR10H4 126541 genome.wustl.edu 36 19 15921303 15921303 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 19 15921303 15921303 G A SNP OR10H4 NM_001004465 human genbank 54_36p 1 validated silent c.486 p.T162 NULL - - no_errors ANO8 57719 genome.wustl.edu 36 19 17299567 17299567 + Silent SNP G G A Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 19 17299567 17299567 G A SNP ANO8 NM_020959 human genbank 54_36p -1 provisional silent c.2349 p.D783 1 NULL - - no_errors NCAN 1463 genome.wustl.edu 36 19 19196156 19196156 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 19 19196156 19196156 G A SNP NCAN NM_004386 human genbank 54_36p 1 validated missense c.692 p.R231H 1 HMMPfam_Xlink HMMPfam_Sushi;HMMPfam_Xlink;HMMPfam_Lectin_C;HMMPfam_EGF;superfamily_Immunoglobulin;superfamily_C-type lectin-like;superfamily_EGF/Laminin;superfamily_Complement control module/SCR domain - no_errors CELF5 60680 genome.wustl.edu 36 19 3233187 3233187 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 19 3233187 3233187 T C SNP BRUNOL5 NM_021938 human genbank 54_36p 1 reviewed missense c.814 p.F272L 1 NULL HMMPfam_RRM_1;superfamily_RNA-binding domain RBD - no_errors CCDC123 84902 genome.wustl.edu 36 19 38114236 38114236 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 19 38114236 38114236 T A SNP CCDC123 NM_032816 human genbank 54_36p -1 validated missense c.968 p.H323L 1 NULL - - no_errors LRG1 116844 genome.wustl.edu 36 19 4489173 4489173 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 19 4489173 4489173 C T SNP LRG1 NM_052972 human genbank 54_36p -1 validated missense c.823 p.V275M NULL - - no_errors SHKBP1 92799 genome.wustl.edu 36 19 45781214 45781214 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 19 45781214 45781214 G C SNP SHKBP1 NM_138392 human genbank 54_36p 1 validated missense c.1031 p.G344A 1 NULL - - no_errors ZNF610 162963 genome.wustl.edu 36 19 57548776 57548776 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 19 57548776 57548776 C T SNP ZNF610 NM_173530 human genbank 54_36p 1 provisional silent c.93 p.I31 0.72 NULL - - no_errors LILRB4 11006 genome.wustl.edu 36 19 59867610 59867610 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 19 59867610 59867610 G A SNP LILRB4 NM_006847 human genbank 54_36p 1 reviewed missense c.517 p.A173T HMMPfam_ig HMMPfam_ig;superfamily_Immunoglobulin - no_errors PNPLA6 10908 genome.wustl.edu 36 19 7525516 7525516 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 19 7525516 7525516 C T SNP PNPLA6 NM_006702 human genbank 54_36p 1 validated silent c.2427 p.D809 0.91 NULL HMMPfam_cNMP_binding;superfamily_cAMP-binding domain-like;HMMPfam_Patatin;superfamily_FabD/lysophospholipase-like - no_errors MARCO 8685 genome.wustl.edu 36 2 119445573 119445573 + Silent SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 2 119445573 119445573 C G SNP MARCO NM_006770 human genbank 54_36p 1 reviewed silent c.453 p.G151 NULL - - no_errors LRP1B 53353 genome.wustl.edu 36 2 140797959 140797960 + Missense_Mutation DNP TC TC CT novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 TC TC TC CT TC TC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 2 140797959 140797960 TC CT DNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.12487_12486 p.I4163V 1.000:1.000 NULL HMMPfam_Ldl_recept_a;HMMPfam_EGF;HMMPfam_EGF_CA;HMMPfam_EGF_2;superfamily_EGF/Laminin;superfamily_YWTD domain;HMMPfam_Ldl_recept_b;HMMPfam_NHL;superfamily_LDL receptor-like module - no_errors PLCD4 84812 genome.wustl.edu 36 2 219205133 219205133 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 2 219205133 219205133 A G SNP PLCD4 NM_032726 human genbank 54_36p 1 provisional missense c.1303 p.K435E 1 HMMPfam_PI-PLC-X HMMPfam_C2,HMMPfam_PI-PLC-X,HMMPfam_PI-PLC-Y,HMMPfam_PH,HMMPfam_efhand,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_efhand_like,superfamily_EF-hand,superfamily_PH domain-like,superfamily_PLC-like phosphodiesterases - no_errors COL6A3 1293 genome.wustl.edu 36 2 237939079 237939079 + Splice_Site SNP C A A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 2 237939079 237939079 C A SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed splice_site c.5838+1 e11+1 1 - - - no_errors MLPH 79083 genome.wustl.edu 36 2 238113861 238113861 + Missense_Mutation SNP G G C Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 2 238113861 238113861 G C SNP MLPH NM_024101 human genbank 54_36p 1 reviewed missense c.1236 p.K412N 0 NULL - - no_errors KRT18P26 729634 genome.wustl.edu 36 2 44366890 44366890 + RNA SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 2 44366890 44366890 C G SNP KRT18P26 XR_039730 human genbank 54_36p -1 model rna NULL NULL 0.02 - - - pseudogene RPL23AP32 56969 genome.wustl.edu 36 2 54610021 54610021 + RNA SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 2 54610021 54610021 C T SNP RPL23AP32 NR_002229 human genbank 54_36p 1 inferred rna NULL NULL 1 - - - pseudogene RBL1 5933 genome.wustl.edu 36 20 35094482 35094482 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 20 35094482 35094482 C G SNP RBL1 NM_002895 human genbank 54_36p -1 reviewed missense c.2382 p.K794N 1 HMMPfam_RB_B RB_B;HMMPfam_RB_B;RB_A;HMMPfam_RB_A - no_errors APCDD1L 164284 genome.wustl.edu 36 20 56479111 56479111 + Missense_Mutation SNP T T C Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 20 56479111 56479111 T C SNP APCDD1L NM_153360 human genbank 54_36p -1 provisional missense c.148 p.I50V 0.029 NULL - - no_errors SS18L1 26039 genome.wustl.edu 36 20 60173926 60173926 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 20 60173926 60173926 C T SNP SS18L1 NM_198935 human genbank 54_36p 1 validated missense c.877 p.R293W 0.71 NULL - - no_errors LOC441957 441957 genome.wustl.edu 36 21 14058087 14058087 + RNA SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 21 14058087 14058087 C G SNP LOC441957 XR_016199 human genbank 54_36p 1 model rna NULL NULL 1 - - - pseudogene BRWD1 54014 genome.wustl.edu 36 21 39568229 39568229 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 21 39568229 39568229 C A SNP BRWD1 NM_018963 human genbank 54_36p -1 reviewed missense c.1185 p.W395C 1 HMMPfam_WD40 HMMPfam_Bromodomain;HMMPfam_WD40;superfamily_WD40 repeat-like;superfamily_Bromodomain - no_errors SGSM1 129049 genome.wustl.edu 36 22 23573735 23573735 + Nonsense_Mutation SNP C C T Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 22 23573735 23573735 C T SNP SGSM1 NM_001039948 human genbank 54_36p 1 validated nonsense c.274 p.Q92* 1 NULL - - no_errors PDXP 57026 genome.wustl.edu 36 22 36391593 36391593 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 22 36391593 36391593 G C SNP PDXP NM_020315 human genbank 54_36p 1 validated missense c.660 p.E220D 1 HMMPfam_Hydrolase HMMPfam_Hydrolase;superfamily_HAD-like - no_errors SLC9A10 285335 genome.wustl.edu 36 3 113471528 113471528 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 113471528 113471528 T A SNP SLC9A10 NM_183061 human genbank 54_36p -1 validated missense c.700 p.M234L 0.82 HMMPfam_Na_H_Exchanger HMMPfam_cNMP_binding;superfamily_cAMP-binding domain-like;HMMPfam_Ion_trans;HMMPfam_Na_H_Exchanger;superfamily_Voltage-gated potassium channels - no_errors CCDC80 151887 genome.wustl.edu 36 3 113831719 113831719 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 113831719 113831719 T G SNP CCDC80 NM_199511 human genbank 54_36p -1 validated missense c.1966 p.K656Q 1 NULL - - no_errors POGLUT1 56983 genome.wustl.edu 36 3 120688369 120688369 + Splice_Site SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 120688369 120688369 G C SNP KTELC1 NM_152305 human genbank 54_36p 1 validated splice_site c.639-1 e7-1 1 - - - no_errors PARP9 83666 genome.wustl.edu 36 3 123759921 123759921 + Silent SNP G G T Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 123759921 123759921 G T SNP PARP9 NM_031458 human genbank 54_36p -1 provisional silent c.99 p.I33 0.301 NULL - - no_errors KY 339855 genome.wustl.edu 36 3 135805662 135805662 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 135805662 135805662 G A SNP KY NM_178554 human genbank 54_36p -1 validated missense c.1435 p.R479C 1 NULL - - no_errors MED12L 116931 genome.wustl.edu 36 3 152550663 152550663 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 152550663 152550663 A G SNP MED12L NM_053002 human genbank 54_36p 1 validated missense c.2272 p.K758E 1 NULL - - no_errors EFHB 151651 genome.wustl.edu 36 3 19950031 19950031 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 19950031 19950031 C T SNP EFHB NM_144715 human genbank 54_36p -1 validated missense c.484 p.A162T 0.02 NULL - - no_errors SCN10A 6336 genome.wustl.edu 36 3 38714850 38714850 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 38714850 38714850 G A SNP SCN10A NM_006514 human genbank 54_36p -1 validated missense c.4865 p.S1622F 1 NULL - - no_errors CCR8 1237 genome.wustl.edu 36 3 39349522 39349522 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 39349522 39349522 C G SNP CCR8 NM_005201 human genbank 54_36p 1 reviewed missense c.696 p.N232K 0.96 NULL - - no_errors ZNF197 10168 genome.wustl.edu 36 3 44645733 44645733 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 44645733 44645733 C A SNP ZNF197 NM_006991 human genbank 54_36p 1 reviewed missense c.83 p.T28N 0.04 NULL - - no_errors LRRC2 79442 genome.wustl.edu 36 3 46538078 46538078 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 46538078 46538078 C T SNP LRRC2 NM_024512 human genbank 54_36p -1 validated missense c.1004 p.R335Q 0.51 NULL HMMPfam_LRR_1;superfamily_L domain-like - no_errors DHX30 22907 genome.wustl.edu 36 3 47863811 47863811 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 47863811 47863811 G A SNP DHX30 NM_138615 human genbank 54_36p 1 reviewed silent c.1974 p.L658 0.99 NULL - - no_errors CACNA1D 776 genome.wustl.edu 36 3 53733046 53733046 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 53733046 53733046 G A SNP CACNA1D NM_000720 human genbank 54_36p 1 validated missense c.2140 p.A714T 1 NULL - - no_errors THOC7 80145 genome.wustl.edu 36 3 63795871 63795871 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 63795871 63795871 T A SNP THOC7 NM_025075 human genbank 54_36p -1 validated missense c.546 p.E182D 1 NULL - - no_errors GRM7 2917 genome.wustl.edu 36 3 6878441 6878441 + Missense_Mutation SNP C A A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 6878441 6878441 C A SNP GRM7 NM_181874 human genbank 54_36p 1 reviewed missense c.366 p.F122L 1 HMMPfam_ANF_receptor HMMPfam_7tm_3;HMMPfam_ANF_receptor;HMMPfam_NCD3G;superfamily_Periplasmic binding protein-like I;superfamily_TNF receptor-like - no_errors EPHA6 285220 genome.wustl.edu 36 3 98188911 98188911 + Silent SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 3 98188911 98188911 A G SNP EPHA6 NM_001080448 human genbank 54_36p 1 provisional silent c.498 p.T166 0.96 NULL - - no_errors ZNF518B 85460 genome.wustl.edu 36 4 10053863 10053881 + Frame_Shift_Del DEL GTTGCTTCTATCAAATGCC GTTGCTTCTATCAAATGCC - novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 GTTGCTTCTATCAAATGCC GTTGCTTCTATCAAATGCC GTTGCTTCTATCAAATGCC - GTTGCTTCTATCAAATGCC GTTGCTTCTATCAAATGCC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 4 10053863 10053881 GTTGCTTCTATCAAATGCC - DEL ZNF518B NM_053042 human genbank 54_36p -1 validated frame_shift_del c.3188_3170 p.R1057fs 0.992:0.992:0.828:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.797:0.862 NULL - (deletion:cds_exon[10053826;10057050]) no_errors NFKB1 4790 genome.wustl.edu 36 4 103678093 103678093 + Silent SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 4 103678093 103678093 A G SNP NFKB1 NM_003998 human genbank 54_36p 1 reviewed silent c.210 p.L70 0.99 HMMPfam_RHD HMMPfam_Death;HMMPfam_Ank;superfamily_Ankyrin repeat;HMMPfam_TIG;superfamily_p53-like transcription factors;superfamily_DEATH domain;HMMPfam_RHD;superfamily_E set domains - no_errors OTUD4 54726 genome.wustl.edu 36 4 146278262 146278262 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 4 146278262 146278262 A C SNP OTUD4 NM_001102653 human genbank 54_36p -1 reviewed missense c.2920 p.S974A 1 NULL - - no_errors NAF1 92345 genome.wustl.edu 36 4 164269865 164269865 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 4 164269865 164269865 G C SNP NAF1 NM_138386 human genbank 54_36p -1 validated missense c.1119 p.F373L 0.39 NULL - - no_errors IRF2 3660 genome.wustl.edu 36 4 185577632 185577632 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 4 185577632 185577632 A G SNP IRF2 NM_002199 human genbank 54_36p -1 reviewed missense c.172 p.W58R 1 NULL - - no_errors FAT1 2195 genome.wustl.edu 36 4 187747329 187747329 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 4 187747329 187747329 G T SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed missense c.13178 p.P4393H 1 NULL - - no_errors PHOX2B 8929 genome.wustl.edu 36 4 41445365 41445365 + Missense_Mutation SNP G T T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G T T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 4 41445365 41445365 G T SNP PHOX2B NM_003924 human genbank 54_36p -1 reviewed missense c.20 p.S7Y 1 NULL Homeobox;HMMPfam_Homeobox - no_errors FRAS1 80144 genome.wustl.edu 36 4 79514397 79514397 + Missense_Mutation SNP A A T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 4 79514397 79514397 A T SNP FRAS1 ENST00000380674 human ensembl 54_36p 1 known missense c.3119 p.Y1040F 0.99 NULL - - no_errors LVRN 206338 genome.wustl.edu 36 5 115326342 115326342 + Silent SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 5 115326342 115326342 C T SNP LVRN NM_173800 human genbank 54_36p 1 validated silent c.129 p.V43 0.03 NULL - - no_errors GFRA3 2676 genome.wustl.edu 36 5 137621427 137621427 + Silent SNP G G C Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 5 137621427 137621427 G C SNP GFRA3 NM_001496 human genbank 54_36p -1 reviewed silent c.585 p.V195 0.004 NULL - - no_errors EGR1 1958 genome.wustl.edu 36 5 137830996 137830996 + Missense_Mutation SNP G A A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 5 137830996 137830996 G A SNP EGR1 NM_001964 human genbank 54_36p 1 reviewed missense c.959 p.R320H 1 NULL HMMPfam_zf-C2H2;superfamily_C2H2 and C2HC zinc fingers - no_errors SLC6A3 6531 genome.wustl.edu 36 5 1462901 1462901 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 5 1462901 1462901 G C SNP SLC6A3 NM_001044 human genbank 54_36p -1 validated missense c.1333 p.R445G 1 HMMPfam_SNF HMMPfam_SNF - no_errors RUFY1 80230 genome.wustl.edu 36 5 178949231 178949231 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 5 178949231 178949231 G C SNP RUFY1 NM_025158 human genbank 54_36p 1 validated missense c.1105 p.E369Q 0.987 NULL - - no_errors PREP 5550 genome.wustl.edu 36 6 105878338 105878338 + Splice_Site SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 6 105878338 105878338 T G SNP PREP NM_002726 human genbank 54_36p -1 reviewed splice_site c.1214-2 e10-2 1 - - - no_errors RPF2 84154 genome.wustl.edu 36 6 111436015 111436023 + In_Frame_Del DEL CTAAAAAGT CTAAAAAGT - novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 CTAAAAAGT CTAAAAAGT CTAAAAAGT - CTAAAAAGT CTAAAAAGT Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 6 111436015 111436023 CTAAAAAGT - DEL BXDC1 NM_032194 human genbank 54_36p 1 validated in_frame_del c.475_483 p.KSL160in_frame_del 0.968:0.981:0.966:1.000:1.000:1.000:1.000:1.000:1.000 NULL - (deletion:cds_exon[111435934;111436033]) no_errors HERV-FRD 405754 genome.wustl.edu 36 6 11213309 11213309 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 6 11213309 11213309 A C SNP HERV-FRD NM_207582 human genbank 54_36p -1 provisional missense c.221 p.I74S NULL - - no_errors C6orf170 221322 genome.wustl.edu 36 6 121443618 121443618 + Nonstop_Mutation SNP A A T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 6 121443618 121443618 A T SNP C6orf170 NM_152730 human genbank 54_36p -1 validated nonstop c.3772 p.*1258K 0.94 NULL - - no_errors PKHD1 5314 genome.wustl.edu 36 6 52025839 52025839 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 6 52025839 52025839 C G SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed missense c.2134 p.V712L 0.71 NULL HMMPfam_TIG;superfamily_Pectin lyase-like;superfamily_E set domains;superfamily_Anthrax protective antigen - no_errors COL21A1 81578 genome.wustl.edu 36 6 56152449 56152449 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 6 56152449 56152449 C T SNP COL21A1 NM_030820 human genbank 54_36p -1 reviewed missense c.526 p.D176N 1 NULL - - no_errors LOC727842 727842 genome.wustl.edu 36 6 58554168 58554168 + RNA SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 6 58554168 58554168 G C SNP LOC727842 XR_015140 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene RREB1 6239 genome.wustl.edu 36 6 7176750 7176750 + Missense_Mutation SNP C C T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 6 7176750 7176750 C T SNP RREB1 NM_001003699 human genbank 54_36p 1 validated missense c.3419 p.S1140F 0.846 NULL HMMPfam_zf-C2H2,superfamily_C2H2 and C2HC zinc fingers - no_errors CAGE1 285782 genome.wustl.edu 36 6 7318748 7318748 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 6 7318748 7318748 C A SNP CAGE1 NM_205864 human genbank 54_36p -1 validated missense c.895 p.V299L NULL - - no_errors KCNQ5 56479 genome.wustl.edu 36 6 73877773 73877773 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 6 73877773 73877773 G C SNP KCNQ5 NM_019842 human genbank 54_36p 1 reviewed missense c.1051 p.A351P 1 NULL HMMPfam_Ion_trans;HMMPfam_KCNQ_channel;superfamily_Voltage-gated potassium channels - no_errors MTO1 25821 genome.wustl.edu 36 6 74240007 74240007 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 6 74240007 74240007 A G SNP MTO1 NM_133645 human genbank 54_36p 1 reviewed missense c.734 p.K245R 1 NULL - - no_errors COL12A1 1303 genome.wustl.edu 36 6 75900411 75900411 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 6 75900411 75900411 G C SNP COL12A1 NM_004370 human genbank 54_36p -1 reviewed missense c.5547 p.N1849K 1 NULL - - no_errors SNAP91 9892 genome.wustl.edu 36 6 84327316 84327316 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 6 84327316 84327316 C A SNP SNAP91 NM_014841 human genbank 54_36p -1 validated missense c.2512 p.A838S 0.97 NULL HMMPfam_ANTH;superfamily_ENTH/VHS domain;superfamily_GAT-like domain - no_errors ENSG00000180909 0 genome.wustl.edu 36 11 6130098 6130098 + Silent SNP G A A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 11 6130098 6130098 G A SNP ENSG00000180909 ENST00000316506 human ensembl 54_36p -1 known silent c.297 p.H99 0.005 NULL HMMPfam_7tm_1,superfamily_SSF81321 - no_errors LOC100132437 100132437 genome.wustl.edu 36 9 68357723 68357723 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 9 68357723 68357723 A G SNP LOC100132437 XM_001720808 human genbank 54_36p 1 model missense c.193 p.M65V 1 NULL - - no_errors GNB2 2783 genome.wustl.edu 36 7 100113090 100113090 + Missense_Mutation SNP A A G Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 7 100113090 100113090 A G SNP GNB2 NM_005273 human genbank 54_36p 1 reviewed missense c.301 p.M101V 1 HMMPfam_WD40 HMMPfam_WD40,superfamily_WD40 repeat-like - no_errors TSGA13 114960 genome.wustl.edu 36 7 130019032 130019032 + Silent SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 7 130019032 130019032 T G SNP TSGA13 NM_052933 human genbank 54_36p -1 provisional silent c.42 p.S14 0.02 NULL - - no_errors UBN2 254048 genome.wustl.edu 36 7 138596723 138596724 + Frame_Shift_Del DEL CA CA - novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 CA CA CA - CA CA Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 7 138596723 138596724 CA - DEL UBN2 NM_173569 human genbank 54_36p 1 validated frame_shift_del c.842_843 p.L282fs 0.000:0.000 NULL - (deletion:cds_exon[138596538;138597027]) no_errors LOC441294 441294 genome.wustl.edu 36 7 142980478 142980478 + Missense_Mutation SNP A A C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 7 142980478 142980478 A C SNP LOC441294 NM_001008747 human genbank 54_36p 1 predicted missense c.1446 p.E482D 1 NULL - - no_errors CTAGE4 100128553 genome.wustl.edu 36 7 143512235 143512235 + RNA SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 7 143512235 143512235 G C SNP CTAGE4 XR_038147 human genbank 54_36p 1 model rna NULL NULL 0.44 - - - no_errors GIMAP6 474344 genome.wustl.edu 36 7 149955985 149955985 + Missense_Mutation SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 7 149955985 149955985 G T SNP GIMAP6 NM_024711 human genbank 54_36p -1 reviewed missense c.634 p.L212M 0.79 NULL - - no_errors CBX3 11335 genome.wustl.edu 36 7 26209145 26209145 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 7 26209145 26209145 T G SNP CBX3 NM_007276 human genbank 54_36p 1 reviewed missense c.2 p.M1R 1 NULL - - no_errors HECW1 23072 genome.wustl.edu 36 7 43499238 43499238 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 7 43499238 43499238 G A SNP HECW1 NM_015052 human genbank 54_36p 1 validated missense c.3371 p.R1124H 1 NULL HMMPfam_C2;HMMPfam_HECT;HMMPfam_WW;superfamily_WW domain;superfamily_C2 domain (Calcium/lipid-binding domain CaLB);superfamily_Hect E3 ligase catalytic domain - no_errors NPC1L1 29881 genome.wustl.edu 36 7 44522980 44522980 + Silent SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 7 44522980 44522980 G A SNP NPC1L1 NM_013389 human genbank 54_36p -1 validated silent c.3447 p.P1149 1 NULL - - no_errors KRIT1 889 genome.wustl.edu 36 7 91681222 91681222 + Missense_Mutation SNP T T C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 7 91681222 91681222 T C SNP KRIT1 NM_004912 human genbank 54_36p -1 validated missense c.1738 p.N580D 1 NULL HMMPfam_Ank;superfamily_Ankyrin repeat;superfamily_Second domain of FERM - no_errors MAL2 114569 genome.wustl.edu 36 8 120321660 120321660 + Missense_Mutation SNP G G C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 8 120321660 120321660 G C SNP MAL2 NM_052886 human genbank 54_36p 1 reviewed missense c.379 p.A127P 1 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLEC 5339 genome.wustl.edu 36 8 145066072 145066072 + Missense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 8 145066072 145066072 C A SNP PLEC1 NM_201380 human genbank 54_36p -1 reviewed missense c.10316 p.R3439M 0.08 NULL HMMPfam_Plectin;HMMPfam_CH;HMMPfam_S10_plectin;superfamily_Spectrin repeat;superfamily_Calponin-homology domain CH-domain;superfamily_Plakin repeat - no_errors C8orf80 389643 genome.wustl.edu 36 8 27943808 27943808 + Missense_Mutation SNP T T A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 8 27943808 27943808 T A SNP C8orf80 NM_001010906 human genbank 54_36p -1 predicted missense c.1955 p.K652M 1 NULL - - no_errors WRN 7486 genome.wustl.edu 36 8 31068951 31068951 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 8 31068951 31068951 T G SNP WRN NM_000553 human genbank 54_36p 1 reviewed missense c.1893 p.I631M 0.59 HMMPfam_DEAD HMMPfam_Helicase_C;HMMPfam_HRDC;HMMPfam_3_5_exonuc;superfamily_HRDC-like;HMMPfam_DEAD;superfamily_Ribonuclease H-like;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors IGKV1-5 28299 genome.wustl.edu 36 2 89302534 89302534 + Silent SNP G G T novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 2 89302534 89302534 G T SNP IGKV1-5 ENST00000390259 human ensembl 54_36p -1 known silent c.120 p.S40 0.78 NULL - - no_stop_codon:bad_bp_length_for_coding_region ZNF189 7743 genome.wustl.edu 36 9 103210792 103210792 + Silent SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 9 103210792 103210792 A G SNP ZNF189 NM_003452 human genbank 54_36p 1 validated silent c.921 p.Q307 1 HMMPfam_zf-C2H2 HMMPfam_KRAB;HMMPfam_zf-C2H2;superfamily_KRAB domain (Kruppel-associated box Pfam 01352);superfamily_C2H2 and C2HC zinc fingers - no_errors PALM2 114299 genome.wustl.edu 36 9 111745233 111745233 + Missense_Mutation SNP A A G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 9 111745233 111745233 A G SNP PALM2 NM_053016 human genbank 54_36p 1 validated missense c.949 p.M317V 1 NULL - - no_errors GAPVD1 26130 genome.wustl.edu 36 9 127123549 127123549 + Missense_Mutation SNP T T G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 9 127123549 127123549 T G SNP GAPVD1 NM_015635 human genbank 54_36p 1 validated missense c.1619 p.L540R 1 NULL HMMPfam_RasGAP;HMMPfam_VPS9;superfamily_GTPase activation domain GAP;superfamily_VPS9 domain (Pfam 02204) - no_errors RALGDS 5900 genome.wustl.edu 36 9 134975699 134975699 + Splice_Site SNP T C C novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 T T C C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa 9 134975699 134975699 T C SNP RALGDS NM_006266 human genbank 54_36p -1 validated splice_site c.295-2 e3-2 0.99 - - - no_errors BHLHB9 80823 genome.wustl.edu 36 X 101891283 101891283 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa X 101891283 101891283 C G SNP BHLHB9 NM_030639 human genbank 54_36p 1 validated missense c.704 p.S235C 0.97 NULL - - no_errors FRMPD3 84443 genome.wustl.edu 36 X 106656544 106656544 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa X 106656544 106656544 G A SNP FRMPD3 XM_042978 human genbank 54_36p 1 model missense c.169 p.V57I 1 NULL - - no_errors COL4A5 1287 genome.wustl.edu 36 X 107826227 107826227 + Missense_Mutation SNP G G A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa X 107826227 107826227 G A SNP COL4A5 NM_033380 human genbank 54_36p 1 reviewed missense c.5039 p.R1680Q 1 NULL - - no_errors FAM50A 9130 genome.wustl.edu 36 X 153328092 153328092 + Missense_Mutation SNP G A A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa X 153328092 153328092 G A SNP FAM50A NM_004699 human genbank 54_36p 1 provisional missense c.432 p.M144I 1 NULL - - no_errors DMD 1756 genome.wustl.edu 36 X 32290831 32290831 + Nonsense_Mutation SNP C C A novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa X 32290831 32290831 C A SNP DMD NM_004006 human genbank 54_36p -1 reviewed nonsense c.5320 p.G1774* 1 HMMPfam_Spectrin HMMPfam_ZZ;HMMPfam_WW;superfamily_WW domain;HMMPfam_CH;HMMPfam_Spectrin;superfamily_Prefoldin;superfamily_t-snare proteins;HMMPfam_efhand_1;HMMPfam_efhand_2;superfamily_Spectrin repeat;superfamily_EF-hand;superfamily_Calponin-homology domain CH-domain - no_errors MED12 9968 genome.wustl.edu 36 X 70269528 70269528 + Missense_Mutation SNP C C G novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa X 70269528 70269528 C G SNP MED12 NM_005120 human genbank 54_36p 1 validated missense c.4524 p.H1508Q 1 NULL - - no_errors MAGEE2 139599 genome.wustl.edu 36 X 74920217 74920228 + In_Frame_Del DEL AAGCTCATATTC AAGCTCATATTC - novel Unknown TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 AAGCTCATATTC AAGCTCATATTC AAGCTCATATTC - AAGCTCATATTC AAGCTCATATTC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx ec98ed86-1d2f-4e54-b2d4-5976469bf0b8 c21a3215-750d-4186-8c67-1f5d2bdc32fa X 74920217 74920228 AAGCTCATATTC - DEL MAGEE2 NM_138703 human genbank 54_36p -1 validated in_frame_del c.1395_1384 p.EYEL462in_frame_del 0.994:0.996:0.999:1.000:1.000:0.999:0.998:0.999:0.998:0.998:0.998:0.997 NULL - (deletion:cds_exon[74920040;74921611]) no_errors