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 PHTF1 10745 genome.wustl.edu 36 1 114050766 114050766 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 1 114050766 114050766 C A SNP PHTF1 NM_006608 human genbank 54_36p -1 validated missense c.1371 p.L457F 1 NULL - - no_errors FMO5 2330 genome.wustl.edu 36 1 145163196 145163196 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G T G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 1 145163196 145163196 G T SNP FMO5 NM_001461 human genbank 54_36p -1 reviewed missense c.50 p.S17Y 0.01 NULL - - no_errors BCL9 607 genome.wustl.edu 36 1 145558344 145558344 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C G C G C C Unknown Valid Somatic Phase_III Capture Sanger_PCR_WGA dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 1 145558344 145558344 C G SNP BCL9 NM_004326 human genbank 54_36p 1 reviewed missense c.1759 p.L587V 1 NULL - - no_errors CHRM3 1131 genome.wustl.edu 36 1 238138533 238138533 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G C G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 1 238138533 238138533 G C SNP CHRM3 NM_000740 human genbank 54_36p 1 reviewed missense c.1159 p.D387H 1 NULL - - no_errors SDC3 9672 genome.wustl.edu 36 1 31122403 31122403 + Silent SNP C C T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 1 31122403 31122403 C T SNP SDC3 NM_014654 human genbank 54_36p -1 validated silent c.453 p.E151 0.99 HMMPfam_Syndecan HMMPfam_Syndecan - no_errors DPYD 1806 genome.wustl.edu 36 1 97929868 97929868 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C A C A C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 1 97929868 97929868 C A SNP DPYD NM_000110 human genbank 54_36p -1 reviewed missense c.755 p.G252V 1 HMMPfam_Pyr_redox_2 HMMPfam_DHO_dh;HMMPfam_Fer4;superfamily_alpha-helical ferredoxin;HMMPfam_Pyr_redox_2;superfamily_FMN-linked oxidoreductases;superfamily_Nucleotide-binding domain;superfamily_4Fe-4S ferredoxins - no_errors OR8J1 219477 genome.wustl.edu 36 11 55884585 55884585 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 11 55884585 55884585 A C SNP OR8J1 NM_001005205 human genbank 54_36p 1 provisional missense c.287 p.E96A 0.95 NULL - - no_errors OR8U1 219417 genome.wustl.edu 36 11 55900385 55900385 + Missense_Mutation SNP C C A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 11 55900385 55900385 C A SNP OR8U1 NM_001005204 human genbank 54_36p 1 provisional missense c.710 p.A237D 1 NULL - - no_errors DPP3 10072 genome.wustl.edu 36 11 66028817 66028817 + Silent SNP T T G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 11 66028817 66028817 T G SNP DPP3 NM_005700 human genbank 54_36p 1 reviewed silent c.2037 p.L679 0.97 HMMPfam_Peptidase_M49 HMMPfam_Peptidase_M49 - no_errors MMP19 4327 genome.wustl.edu 36 12 54517349 54517351 + In_Frame_Del DEL AAC AAC - novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 AAC AAC AAC - AAC AAC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 12 54517349 54517351 AAC - DEL MMP19 NM_002429 human genbank 54_36p -1 reviewed in_frame_del c.1265_1263 p.L421in_frame_del 1.000:1.000:0.983 HMMPfam_Hemopexin "HMMPfam_Hemopexin;superfamily_Hemopexin-like domain;HMMPfam_Peptidase_M10;HMMPfam_PG_binding_1;superfamily_PGBD-like;superfamily_Metalloproteases (""zincins"") catalytic domain" (deletion:cds_exon[54517087;54517425]) no_errors KRR1 11103 genome.wustl.edu 36 12 74184022 74184022 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 12 74184022 74184022 G A SNP KRR1 NM_007043 human genbank 54_36p -1 validated missense c.760 p.R254C 1 NULL HMMPfam_KH_1;superfamily_Eukaryotic type KH-domain (KH-domain type I) - no_errors LOC644029 644029 genome.wustl.edu 36 15 45809615 45809615 + RNA SNP C C T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 15 45809615 45809615 C T SNP LOC644029 XR_017397 human genbank 54_36p -1 model rna NULL NULL 0.83 - - - pseudogene SLX4 84464 genome.wustl.edu 36 16 3587923 3587923 + Silent SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 16 3587923 3587923 G A SNP BTBD12 NM_032444 human genbank 54_36p -1 provisional silent c.1242 p.D414 NULL - - no_errors CREBBP 1387 genome.wustl.edu 36 16 3760937 3760943 + Frame_Shift_Del DEL GAGGCCC GAGGCCC - novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 GAGGCCC GAGGCCC GAGGCCC - GAGGCCC GAGGCCC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 16 3760937 3760943 GAGGCCC - DEL CREBBP NM_004380 human genbank 54_36p -1 reviewed frame_shift_del c.2515_2509 p.G837fs 0.954:0.932:1.000:1.000:0.991:1.000:1.000 NULL HMMPfam_zf-TAZ;superfamily_TAZ domain;HMMPfam_ZZ;HMMPfam_Bromodomain;HMMPfam_KIX;superfamily_Nuclear receptor coactivator interlocking domain;HMMPfam_DUF906;HMMPfam_DUF902;superfamily_FYVE/PHD zinc finger;HMMPfam_Creb_binding;superfamily_Kix domain of CBP (creb binding protein);superfamily_Bromodomain;superfamily_Immunoglobulin (deletion:cds_exon[3760572;3760988]) no_errors TP53 7157 genome.wustl.edu 36 17 7519186 7519186 + Missense_Mutation SNP C A A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C A A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 17 7519186 7519186 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.469 p.V157F 0.1 HMMPfam_P53 superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD - no_errors CARD14 79092 genome.wustl.edu 36 17 75792656 75792656 + Silent SNP C C T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 17 75792656 75792656 C T SNP CARD14 NM_024110 human genbank 54_36p 1 reviewed silent c.2319 p.I773 1 NULL HMMPfam_CARD;superfamily_PDZ domain-like;superfamily_DEATH domain;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors TCEB3B 51224 genome.wustl.edu 36 18 42814012 42814012 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 18 42814012 42814012 G T SNP TCEB3B NM_016427 human genbank 54_36p -1 reviewed missense c.1622 p.P541Q HMMPfam_Elongin_A HMMPfam_Elongin_A;HMMPfam_TFIIS;superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70 - no_errors AP1M2 10053 genome.wustl.edu 36 19 10551457 10551457 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 19 10551457 10551457 G A SNP AP1M2 NM_005498 human genbank 54_36p -1 reviewed missense c.751 p.R251C 1 NULL - - no_errors NOTCH3 4854 genome.wustl.edu 36 19 15137882 15137882 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 19 15137882 15137882 G T SNP NOTCH3 NM_000435 human genbank 54_36p -1 reviewed missense c.5383 p.L1795M 1 HMMPfam_Ank superfamily_Ankyrin repeat;superfamily_EGF/Laminin;superfamily_Notch domain;Notch;HMMPfam_Notch;Ank;HMMPfam_Ank;EGF;HMMPfam_EGF;NOD;HMMPfam_NOD;NODP;HMMPfam_NODP;EGF_CA;HMMPfam_EGF_CA;EGF_2;HMMPfam_EGF_2 - no_errors NOTCH3 4854 genome.wustl.edu 36 19 15139142 15139142 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 19 15139142 15139142 G C SNP NOTCH3 NM_000435 human genbank 54_36p -1 reviewed missense c.5280 p.I1760M 1 NULL superfamily_Ankyrin repeat;superfamily_EGF/Laminin;superfamily_Notch domain;Notch;HMMPfam_Notch;Ank;HMMPfam_Ank;EGF;HMMPfam_EGF;NOD;HMMPfam_NOD;NODP;HMMPfam_NODP;EGF_CA;HMMPfam_EGF_CA;EGF_2;HMMPfam_EGF_2 - no_errors NOTCH3 4854 genome.wustl.edu 36 19 15142228 15142228 + Silent SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 19 15142228 15142228 G A SNP NOTCH3 NM_000435 human genbank 54_36p -1 reviewed silent c.5028 p.F1676 1 NULL superfamily_Ankyrin repeat;superfamily_EGF/Laminin;superfamily_Notch domain;Notch;HMMPfam_Notch;Ank;HMMPfam_Ank;EGF;HMMPfam_EGF;NOD;HMMPfam_NOD;NODP;HMMPfam_NODP;EGF_CA;HMMPfam_EGF_CA;EGF_2;HMMPfam_EGF_2 - no_errors NOTCH3 4854 genome.wustl.edu 36 19 15142296 15142296 + Silent SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 19 15142296 15142296 G A SNP NOTCH3 NM_000435 human genbank 54_36p -1 reviewed silent c.4960 p.L1654 0.991 NULL superfamily_Ankyrin repeat,superfamily_EGF/Laminin,superfamily_Notch domain,Notch,HMMPfam_Notch,Ank,HMMPfam_Ank,EGF,HMMPfam_EGF,NOD,HMMPfam_NOD,NODP,HMMPfam_NODP,EGF_CA,HMMPfam_EGF_CA,EGF_2,HMMPfam_EGF_2 - no_errors CYP4F11 57834 genome.wustl.edu 36 19 15886127 15886127 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 19 15886127 15886127 G A SNP CYP4F11 NM_021187 human genbank 54_36p -1 reviewed missense c.1385 p.S462L 1 HMMPfam_p450 HMMPfam_p450;superfamily_Cytochrome P450 - no_errors PSG1 5669 genome.wustl.edu 36 19 48068034 48068034 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 19 48068034 48068034 T C SNP PSG1 NM_006905 human genbank 54_36p -1 provisional missense c.434 p.E145G 0.02 NULL HMMPfam_V-set;HMMPfam_ig;superfamily_Immunoglobulin - no_errors ZNF557 79230 genome.wustl.edu 36 19 7034614 7034614 + Silent SNP C C T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 19 7034614 7034614 C T SNP ZNF557 NM_001044387 human genbank 54_36p 1 validated silent c.1152 p.S384 0.24 NULL - - no_errors FBN3 84467 genome.wustl.edu 36 19 8061128 8061128 + Missense_Mutation SNP C C G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 19 8061128 8061128 C G SNP FBN3 ENST00000341066 human ensembl 54_36p -1 known missense c.398 p.G133A 0.98 NULL HMMPfam_TB;HMMPfam_EGF_CA;superfamily_EGF/Laminin;superfamily_TB module/8-cys domain - no_errors GRB14 2888 genome.wustl.edu 36 2 165067068 165067068 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 2 165067068 165067068 A T SNP GRB14 NM_004490 human genbank 54_36p -1 reviewed missense c.1047 p.N349K 1 NULL RA;HMMPfam_RA;SH2;HMMPfam_SH2;PH;HMMPfam_PH;BPS;HMMPfam_BPS - no_errors NT5C1B 93034 genome.wustl.edu 36 2 18631851 18631851 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 2 18631851 18631851 G A SNP NT5C1B NM_001002006 human genbank 54_36p -1 validated missense c.190 p.R64C 1 NULL HMMPfam_5-nucleotidase - no_errors GMCL1 64395 genome.wustl.edu 36 2 69918248 69918248 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 2 69918248 69918248 A G SNP GMCL1 NM_178439 human genbank 54_36p 1 provisional missense c.326 p.D109G 1 NULL - - no_errors KRCC1 51315 genome.wustl.edu 36 2 88108971 88108971 + Missense_Mutation SNP T T C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 2 88108971 88108971 T C SNP KRCC1 NM_016618 human genbank 54_36p -1 provisional missense c.227 p.N76S NULL - - no_errors NCOA6 23054 genome.wustl.edu 36 20 32793676 32793676 + Missense_Mutation SNP A A C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 20 32793676 32793676 A C SNP NCOA6 NM_014071 human genbank 54_36p -1 reviewed missense c.4045 p.S1349A 0.98 NULL - - no_errors SON 6651 genome.wustl.edu 36 21 33854113 33854113 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 21 33854113 33854113 T A SNP SON NM_032195 human genbank 54_36p 1 reviewed missense c.6718 p.L2240M 1 NULL - - no_errors SLITRK3 22865 genome.wustl.edu 36 3 166389085 166389085 + Missense_Mutation SNP A A T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 3 166389085 166389085 A T SNP SLITRK3 NM_014926 human genbank 54_36p -1 validated missense c.2228 p.I743N 1 NULL HMMPfam_LRR_1;superfamily_L domain-like - no_errors ABCC5 10057 genome.wustl.edu 36 3 185121875 185121875 + Silent SNP C C T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 3 185121875 185121875 C T SNP ABCC5 NM_005688 human genbank 54_36p -1 reviewed silent c.4221 p.E1407 1 NULL HMMPfam_ABC_membrane;HMMPfam_ABC_tran;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain - no_errors MINA 84864 genome.wustl.edu 36 3 99151416 99151416 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 3 99151416 99151416 G C SNP MINA NM_001042533 human genbank 54_36p -1 validated missense c.1022 p.P341R 1 NULL - - no_errors PPEF2 5470 genome.wustl.edu 36 4 77030294 77030294 + Missense_Mutation SNP C C T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 4 77030294 77030294 C T SNP PPEF2 NM_006239 human genbank 54_36p -1 reviewed missense c.257 p.R86H 1 HMMPfam_PPP5 HMMPfam_IQ;HMMPfam_efhand;HMMPfam_Metallophos;HMMPfam_PPP5;superfamily_EF-hand;superfamily_Metallo-dependent phosphatases - no_errors FGF5 2250 genome.wustl.edu 36 4 81407214 81407214 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 4 81407214 81407214 G T SNP FGF5 NM_004464 human genbank 54_36p 1 reviewed missense c.212 p.G71V 0.673 NULL HMMPfam_FGF,superfamily_Cytokine - no_errors MMRN1 22915 genome.wustl.edu 36 4 91076033 91076033 + Missense_Mutation SNP G G A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 4 91076033 91076033 G A SNP MMRN1 NM_007351 human genbank 54_36p 1 reviewed missense c.2179 p.G727S 1 NULL - - no_errors C5orf44 80006 genome.wustl.edu 36 5 64993649 64993649 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 5 64993649 64993649 A G SNP C5orf44 NM_001093755 human genbank 54_36p 1 validated missense c.914 p.D305G 1 NULL - - no_errors ENSG00000169164 0 genome.wustl.edu 36 X 55697965 55697965 + Missense_Mutation SNP T T A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 X 55697965 55697965 T A SNP ENSG00000169164 ENST00000347911 human ensembl 54_36p -1 known missense c.122 p.E41V NULL - - no_start_codon:no_stop_codon MTHFD1L 25902 genome.wustl.edu 36 6 151378379 151378379 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 6 151378379 151378379 G C SNP MTHFD1L NM_015440 human genbank 54_36p 1 validated missense c.2443 p.E815Q 0.96 HMMPfam_FTHFS HMMPfam_FTHFS;HMMPfam_THF_DHG_CYH;HMMPfam_THF_DHG_CYH_C;superfamily_NAD(P)-binding Rossmann-fold domains;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_Aminoacid dehydrogenase-like N-terminal domain - no_errors LOC100129141 100129141 genome.wustl.edu 36 2 62613373 62613373 + RNA SNP C C A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 2 62613373 62613373 C A SNP LOC100129141 XR_039484 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene ZNF713 349075 genome.wustl.edu 36 7 55958886 55958886 + Missense_Mutation SNP G G C novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 7 55958886 55958886 G C SNP ZNF713 NM_182633 human genbank 54_36p 1 provisional missense c.268 p.D90H 0.84 NULL - - no_errors SEMA3C 10512 genome.wustl.edu 36 7 80270014 80270014 + Silent SNP C C G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 7 80270014 80270014 C G SNP SEMA3C NM_006379 human genbank 54_36p -1 validated silent c.819 p.L273 1 HMMPfam_Sema HMMPfam_Sema;superfamily_Sema domain;superfamily_Plexin repeat;superfamily_Immunoglobulin - no_errors GBA2 57704 genome.wustl.edu 36 9 35728807 35728807 + Missense_Mutation SNP C T T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 9 35728807 35728807 C T SNP GBA2 NM_020944 human genbank 54_36p -1 reviewed missense c.1889 p.R630Q 1 HMMPfam_DUF608 HMMPfam_DUF608;superfamily_Six-hairpin glycosidases - no_errors FAM75A3 727830 genome.wustl.edu 36 9 40695599 40695599 + Missense_Mutation SNP G A A novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 9 40695599 40695599 G A SNP FAM75A3 NM_001083124 human genbank 54_36p 1 predicted missense c.3256 p.E1086K 0 NULL - - no_errors TBC1D8B 54885 genome.wustl.edu 36 X 105950873 105950873 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 X 105950873 105950873 A G SNP TBC1D8B NM_017752 human genbank 54_36p 1 validated missense c.352 p.K118E 1 NULL - - no_errors LUZP4 51213 genome.wustl.edu 36 X 114430672 114430672 + Missense_Mutation SNP G G T novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 G T G T G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 X 114430672 114430672 G T SNP LUZP4 NM_016383 human genbank 54_36p 1 validated missense c.91 p.D31Y 0.97 NULL - - no_errors GABRQ 55879 genome.wustl.edu 36 X 151571967 151571967 + Missense_Mutation SNP A A G novel Unknown TCGA-13-0724-01A-01W-0372-09 TCGA-13-0724-10B-01W-0372-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 2b6aa1c8-5150-4d8f-af59-d5a826321308 071f2eff-e6f5-4aec-84dd-d54da1ce9001 X 151571967 151571967 A G SNP GABRQ NM_018558 human genbank 54_36p 1 reviewed missense c.1466 p.H489R 0.01 HMMPfam_Neur_chan_memb HMMPfam_Neur_chan_memb;HMMPfam_Neur_chan_LBD;superfamily_Nicotinic receptor ligand binding domain-like;superfamily_Neurotransmitter-gated ion-channel transmembrane pore - no_errors