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 THEM5 284486 genome.wustl.edu 36 1 150090247 150090247 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 1 150090247 150090247 C A SNP THEM5 NM_182578 human genbank 54_36p -1 validated nonsense c.370 p.G124* 0.97 NULL - - no_errors NES 10763 genome.wustl.edu 36 1 154907174 154907174 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 1 154907174 154907174 G T SNP NES NM_006617 human genbank 54_36p -1 reviewed missense c.3430 p.L1144I 0 NULL HMMPfam_Filament - no_errors OR10K1 391109 genome.wustl.edu 36 1 156702418 156702418 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 1 156702418 156702418 C A SNP OR10K1 NM_001004473 human genbank 54_36p 1 provisional missense c.443 p.A148D 1 NULL - - no_errors SYT2 127833 genome.wustl.edu 36 1 200835041 200835041 + Silent SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 1 200835041 200835041 G T SNP SYT2 NM_177402 human genbank 54_36p -1 validated silent c.981 p.T327 0.91 NULL - - no_errors LGALS8 3964 genome.wustl.edu 36 1 234767484 234767484 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 1 234767484 234767484 G A SNP LGALS8 NM_006499 human genbank 54_36p 1 reviewed missense c.110 p.G37E 1 HMMPfam_Gal-bind_lectin HMMPfam_Gal-bind_lectin;superfamily_Concanavalin A-like lectins/glucanases - no_errors RYR2 6262 genome.wustl.edu 36 1 235844061 235844061 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 1 235844061 235844061 C G SNP RYR2 NM_001035 human genbank 54_36p 1 reviewed missense c.5010 p.H1670Q 1 NULL HMMPfam_RYDR_ITPR;HMMPfam_efhand;HMMPfam_RyR;HMMPfam_MIR;HMMPfam_SPRY;HMMPfam_Ion_trans;HMMPfam_RR_TM4-6;HMMPfam_RIH_assoc;HMMPfam_Ins145_P3_rec;superfamily_EF-hand;superfamily_MIR domain (Pfam 02815) - no_errors PARS2 25973 genome.wustl.edu 36 1 54996168 54996168 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 1 54996168 54996168 C A SNP PARS2 NM_152268 human genbank 54_36p -1 provisional nonsense c.1255 p.G419* 1 HMMPfam_HGTP_anticodon HMMPfam_tRNA-synt_2b;HMMPfam_HGTP_anticodon;superfamily_Anticodon-binding domain of Class II aaRS;superfamily_Class II aaRS and biotin synthetases - no_errors CYP2C19 1557 genome.wustl.edu 36 10 96525277 96525277 + Missense_Mutation SNP A A C novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 10 96525277 96525277 A C SNP CYP2C19 NM_000769 human genbank 54_36p 1 reviewed missense c.472 p.K158Q 0.15 HMMPfam_p450 HMMPfam_p450;superfamily_Cytochrome P450 - no_errors MUC5B 727897 genome.wustl.edu 36 11 1220871 1220871 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 11 1220871 1220871 C T SNP MUC5B NM_002458 human genbank 54_36p 1 validated missense c.6194 p.T2065I 0 NULL - - no_errors APLP2 334 genome.wustl.edu 36 11 129515549 129515549 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 11 129515549 129515549 G T SNP APLP2 NM_001642 human genbank 54_36p 1 validated missense c.1920 p.E640D 1 NULL HMMPfam_Kunitz_BPTI,superfamily_BPTI-like,HMMPfam_A4_EXTRA,superfamily_Amyloid beta a4 protein copper binding domain (domain 2),superfamily_A heparin-binding domain,superfamily_CAPPD an extracellular domain of amyloid beta A4 protein - no_errors OR52A1 23538 genome.wustl.edu 36 11 5129570 5129570 + Silent SNP A A G novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 11 5129570 5129570 A G SNP OR52A1 NM_012375 human genbank 54_36p -1 validated silent c.606 p.G202 0.03 HMMPfam_7tm_1 HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like - no_errors MARK2 2011 genome.wustl.edu 36 11 63423980 63423980 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 11 63423980 63423980 G A SNP MARK2 NM_017490 human genbank 54_36p 1 reviewed missense c.491 p.S164N 1 NULL - - no_errors LOC100132843 100132843 genome.wustl.edu 36 10 111430605 111430605 + RNA SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 10 111430605 111430605 G A SNP LOC100132843 XR_037957 human genbank 54_36p 1 model rna NULL NULL 0.99 - - - pseudogene SLCO1B1 10599 genome.wustl.edu 36 12 21185846 21185846 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 12 21185846 21185846 G T SNP SLCO1B1 NM_006446 human genbank 54_36p 1 reviewed missense c.71 p.C24F 0.63 NULL - - no_errors NDUFA9 4704 genome.wustl.edu 36 12 4633733 4633733 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 12 4633733 4633733 G T SNP NDUFA9 NM_005002 human genbank 54_36p 1 provisional missense c.64 p.A22S 0.07 NULL HMMPfam_Epimerase;superfamily_NAD(P)-binding Rossmann-fold domains - no_errors BAZ2A 11176 genome.wustl.edu 36 12 55295117 55295117 + Silent SNP T T C novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 12 55295117 55295117 T C SNP BAZ2A NM_013449 human genbank 54_36p -1 validated silent c.684 p.A228 1 NULL HMMPfam_AT_hook;HMMPfam_Bromodomain;HMMPfam_MBD;HMMPfam_PHD;HMMPfam_DDT;superfamily_FYVE/PHD zinc finger;superfamily_Bromodomain;superfamily_DNA-binding domain - no_errors ERCC5 2073 genome.wustl.edu 36 13 102308654 102308654 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 13 102308654 102308654 T C SNP ERCC5 NM_000123 human genbank 54_36p 1 reviewed missense c.557 p.I186T 0.98 NULL HMMPfam_XPG_N;HMMPfam_XPG_I;superfamily_5' to 3' exonuclease C-terminal subdomain;superfamily_PIN domain-like - no_errors RBBP6 5930 genome.wustl.edu 36 16 24467772 24467772 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 16 24467772 24467772 G A SNP RBBP6 NM_006910 human genbank 54_36p 1 reviewed missense c.272 p.R91Q 1 NULL HMMPfam_zf-CCHC,HMMPfam_U-box,HMMPfam_DWNN,superfamily_Retrovirus zinc finger-like domains,superfamily_RING/U-box - no_errors KIAA0100 9703 genome.wustl.edu 36 17 23990758 23990758 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 17 23990758 23990758 G A SNP KIAA0100 NM_014680 human genbank 54_36p -1 validated missense c.1045 p.R349C 1 NULL - - no_errors OR1A1 8383 genome.wustl.edu 36 17 3065967 3065967 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 17 3065967 3065967 G A SNP OR1A1 NM_014565 human genbank 54_36p 1 provisional missense c.303 p.M101I 1 NULL - - no_errors SEC14L1 6397 genome.wustl.edu 36 17 72719626 72719627 + Splice_Site DNP GA GA TT novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 GA GA GA TT GA GA Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 17 72719626 72719627 GA TT DNP SEC14L1 NM_001039573 human genbank 54_36p 1 reviewed splice_site c.1612-1_-0 e13-1 1.000:1.000 - - - no_errors TP53 7157 genome.wustl.edu 36 17 7517849 7517849 + Frame_Shift_Del DEL C C - novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C - C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 17 7517849 7517849 C - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.814 p.V272fs 1 HMMPfam_P53 superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD (deletion:cds_exon[7517744;7517880]) no_errors SIGLEC8 27181 genome.wustl.edu 36 19 56647504 56647504 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 19 56647504 56647504 C A SNP SIGLEC8 NM_014442 human genbank 54_36p -1 validated missense c.1441 p.A481S NULL - - no_errors MFSD9 84804 genome.wustl.edu 36 2 102701900 102701900 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 2 102701900 102701900 T A SNP MFSD9 NM_032718 human genbank 54_36p -1 validated missense c.836 p.N279I 0.03 NULL - - no_errors BIN1 274 genome.wustl.edu 36 2 127544044 127544044 + Silent SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 2 127544044 127544044 G T SNP BIN1 NM_139343 human genbank 54_36p -1 reviewed silent c.408 p.I136 1 HMMPfam_BAR HMMPfam_SH3_1;superfamily_SH3-domain;HMMPfam_BAR - no_errors CHRNA1 1134 genome.wustl.edu 36 2 175326448 175326448 + Nonsense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 2 175326448 175326448 G T SNP CHRNA1 ENST00000409323 human ensembl 54_36p -1 known nonsense c.807 p.C269* NULL - - no_errors LOC728664 728664 genome.wustl.edu 36 2 178570957 178570957 + RNA SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 2 178570957 178570957 C A SNP LOC728664 XR_015711 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene TTN 7273 genome.wustl.edu 36 2 179144336 179144336 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 2 179144336 179144336 G T SNP TTN NM_133378 human genbank 54_36p -1 reviewed missense c.67064 p.T22355K 1 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region SDPR 8436 genome.wustl.edu 36 2 192419516 192419516 + Silent SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 2 192419516 192419516 C T SNP SDPR NM_004657 human genbank 54_36p -1 reviewed silent c.381 p.A127 0.58 NULL - - no_errors SATB2 23314 genome.wustl.edu 36 2 199845581 199845581 + Silent SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 2 199845581 199845581 C T SNP SATB2 NM_015265 human genbank 54_36p -1 validated silent c.1800 p.A600 0.75 NULL - - no_errors PLB1 151056 genome.wustl.edu 36 2 28697349 28697349 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 2 28697349 28697349 G T SNP PLB1 NM_153021 human genbank 54_36p 1 validated missense c.3527 p.R1176M 0.98 HMMPfam_Lipase_GDSL HMMPfam_Lipase_GDSL;superfamily_SGNH hydrolase - no_errors ALK 238 genome.wustl.edu 36 2 29794060 29794060 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 2 29794060 29794060 G T SNP ALK NM_004304 human genbank 54_36p -1 reviewed missense c.675 p.S225R 0.01 NULL MAM;HMMPfam_MAM;Pkinase_Tyr;HMMPfam_Pkinase_Tyr;Protein kinase-like (PK-like);superfamily_Protein kinase-like (PK-like);EGF/Laminin;superfamily_EGF/Laminin;LDL receptor-like module;superfamily_LDL receptor-like module - no_errors NRXN1 9378 genome.wustl.edu 36 2 50578090 50578090 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 2 50578090 50578090 G T SNP NRXN1 NM_004801 human genbank 54_36p -1 reviewed missense c.2764 p.Q922K 1 NULL HMMPfam_EGF;superfamily_Concanavalin A-like lectins/glucanases;HMMPfam_Laminin_G_2;superfamily_EGF/Laminin - no_errors BMP10 27302 genome.wustl.edu 36 2 68947020 68947020 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 2 68947020 68947020 T A SNP BMP10 NM_014482 human genbank 54_36p -1 reviewed missense c.522 p.K174N NULL - - no_errors LRRTM1 347730 genome.wustl.edu 36 2 80383130 80383130 + Silent SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 2 80383130 80383130 C A SNP LRRTM1 NM_178839 human genbank 54_36p -1 validated silent c.1326 p.V442 1 NULL - - no_errors SYCP2 10388 genome.wustl.edu 36 20 57888752 57888752 + Splice_Site SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 20 57888752 57888752 C T SNP SYCP2 NM_014258 human genbank 54_36p -1 reviewed splice_site c.2941+1 e29+1 1 - - - no_errors POTED 317754 genome.wustl.edu 36 21 13914436 13914436 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 21 13914436 13914436 A G SNP POTED NM_174981 human genbank 54_36p 1 validated missense c.1004 p.D335G 0.02 NULL superfamily_Ankyrin repeat;HMMPfam_Ank - no_errors CXADR 1525 genome.wustl.edu 36 21 17846071 17846071 + Missense_Mutation SNP T T A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 21 17846071 17846071 T A SNP CXADR NM_001338 human genbank 54_36p 1 reviewed missense c.344 p.I115N 1 HMMPfam_V-set HMMPfam_I-set;HMMPfam_V-set;superfamily_Immunoglobulin - no_errors TRIOBP 11078 genome.wustl.edu 36 22 36451629 36451629 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 22 36451629 36451629 C A SNP TRIOBP NM_001039141 human genbank 54_36p 1 reviewed missense c.3120 p.F1040L 1 NULL HMMPfam_PH;superfamily_PH domain-like - no_errors MYH15 22989 genome.wustl.edu 36 3 109688056 109688056 + Silent SNP G G C Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 3 109688056 109688056 G C SNP MYH15 NM_014981 human genbank 54_36p -1 validated silent c.939 p.L313 0.972 NULL - - no_errors POLQ 10721 genome.wustl.edu 36 3 122669852 122669852 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 3 122669852 122669852 G A SNP POLQ NM_199420 human genbank 54_36p -1 validated missense c.6835 p.P2279S HMMPfam_DNA_pol_A HMMPfam_DNA_pol_A;HMMPfam_Helicase_C;HMMPfam_DEAD;superfamily_Ribonuclease H-like;superfamily_Immunoglobulin;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_DNA/RNA polymerases - no_errors MYLK 4638 genome.wustl.edu 36 3 124831014 124831014 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 3 124831014 124831014 A G SNP MYLK NM_053025 human genbank 54_36p -1 reviewed missense c.5111 p.M1704T 1 HMMPfam_Pkinase HMMPfam_Pkinase;HMMPfam_fn3;superfamily_Fibronectin type III;superfamily_Protein kinase-like (PK-like);HMMPfam_I-set;superfamily_Immunoglobulin - no_errors LSM3 27258 genome.wustl.edu 36 3 14214608 14214608 + Silent SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 3 14214608 14214608 G T SNP LSM3 NM_014463 human genbank 54_36p 1 validated silent c.297 p.L99 0.87 NULL - - no_errors TRPC1 7220 genome.wustl.edu 36 3 144005548 144005548 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 3 144005548 144005548 C A SNP TRPC1 NM_003304 human genbank 54_36p 1 validated missense c.1695 p.F565L 1 NULL - - no_errors TNIK 23043 genome.wustl.edu 36 3 172302058 172302058 + Missense_Mutation SNP G G C novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 3 172302058 172302058 G C SNP TNIK NM_015028 human genbank 54_36p -1 provisional missense c.2465 p.P822R 1 NULL HMMPfam_Pkinase;HMMPfam_CNH;superfamily_Protein kinase-like (PK-like);superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase - no_errors ZDHHC19 131540 genome.wustl.edu 36 3 197422475 197422475 + Silent SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 3 197422475 197422475 G A SNP ZDHHC19 NM_001039617 human genbank 54_36p -1 validated silent c.109 p.L37 0.17 NULL - - no_errors CLASP2 23122 genome.wustl.edu 36 3 33589669 33589669 + Missense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 3 33589669 33589669 C A SNP CLASP2 NM_015097 human genbank 54_36p -1 validated missense c.2636 p.W879L 1 NULL HMMPfam_HEAT;superfamily_ARM repeat - no_errors SETD2 29072 genome.wustl.edu 36 3 47138183 47138183 + Nonsense_Mutation SNP C C A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 3 47138183 47138183 C A SNP SETD2 NM_014159 human genbank 54_36p -1 reviewed nonsense c.1438 p.E480* 0.09 NULL HMMPfam_WW;superfamily_WW domain;HMMPfam_SET;superfamily_Ferritin-like;HMMPfam_SRI_2;superfamily_SET domain - no_errors CCDC71 64925 genome.wustl.edu 36 3 49175752 49175752 + Silent SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 3 49175752 49175752 C T SNP CCDC71 NM_022903 human genbank 54_36p -1 validated silent c.894 p.K298 1 NULL - - no_errors RG9MTD2 93587 genome.wustl.edu 36 4 100698372 100698372 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 4 100698372 100698372 G A SNP RG9MTD2 NM_152292 human genbank 54_36p -1 validated missense c.205 p.R69C 1 NULL - - no_errors KDR 3791 genome.wustl.edu 36 4 55675918 55675918 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 4 55675918 55675918 C T SNP KDR NM_002253 human genbank 54_36p -1 validated missense c.538 p.D180N 1 NULL HMMPfam_Pkinase_Tyr;superfamily_Protein kinase-like (PK-like);HMMPfam_I-set;HMMPfam_V-set;superfamily_Immunoglobulin - no_errors GPRIN3 285513 genome.wustl.edu 36 4 90388767 90388767 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 4 90388767 90388767 G T SNP GPRIN3 NM_198281 human genbank 54_36p -1 validated missense c.1518 p.D506E NULL - - no_errors FEM1C 56929 genome.wustl.edu 36 5 114906776 114906776 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 5 114906776 114906776 T C SNP FEM1C NM_020177 human genbank 54_36p -1 validated missense c.314 p.H105R 1 NULL - - no_errors ZDHHC11B 653082 genome.wustl.edu 36 5 783566 783566 + Silent SNP C C G novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 5 783566 783566 C G SNP ZDHHC11B XM_926053 human genbank 54_36p -1 model silent c.1041 p.P347 NULL - - no_errors ADCY2 108 genome.wustl.edu 36 5 7855364 7855364 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 5 7855364 7855364 G A SNP ADCY2 NM_020546 human genbank 54_36p 1 reviewed missense c.2662 p.V888I 1 NULL - - no_errors TRMT11 60487 genome.wustl.edu 36 6 126358864 126358864 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 6 126358864 126358864 G T SNP TRMT11 NM_001031712 human genbank 54_36p 1 validated missense c.197 p.R66L 1 NULL - - no_errors FBXO30 84085 genome.wustl.edu 36 6 146168968 146168968 + Silent SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 6 146168968 146168968 G A SNP FBXO30 NM_032145 human genbank 54_36p -1 reviewed silent c.267 p.C89 1 NULL - - no_errors SKIV2L 6499 genome.wustl.edu 36 6 32039837 32039837 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 6 32039837 32039837 C T SNP SKIV2L NM_006929 human genbank 54_36p 1 reviewed missense c.1816 p.R606C 1 NULL - - no_errors HAS2 3037 genome.wustl.edu 36 8 122710164 122710164 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 8 122710164 122710164 C T SNP HAS2 NM_005328 human genbank 54_36p -1 reviewed missense c.598 p.A200T 1 NULL HMMPfam_Glycos_transf_2;superfamily_Nucleotide-diphospho-sugar transferases - no_errors SLC26A7 115111 genome.wustl.edu 36 8 92419638 92419638 + Splice_Site SNP T T G novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 8 92419638 92419638 T G SNP SLC26A7 NM_134266 human genbank 54_36p 1 reviewed splice_site c.878+2 e6+2 1 - - - no_errors DFNB31 25861 genome.wustl.edu 36 9 116268469 116268469 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 6511d3d4-722c-4702-a644-29bb98e5e5c3 4785e803-9790-4ea7-be30-e068433d045a 9 116268469 116268469 G A SNP DFNB31 NM_015404 human genbank 54_36p -1 validated missense c.862 p.R288W 0.97 HMMPfam_PDZ HMMPfam_PDZ;superfamily_PDZ domain-like - no_errors