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 DENND4B 9909 genome.wustl.edu 36 1 152170166 152170167 + Splice_Site INS - - G Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 - - - G - - Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 1 152170166 152170167 - G INS DENND4B NM_014856 human genbank 54_36p -1 validated splice_site_ins c.NULL e24-2 0.995:0.981 - - - no_errors IGSF9 57549 genome.wustl.edu 36 1 158179380 158179380 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 1 158179380 158179380 C T SNP IGSF9 NM_020789 human genbank 54_36p -1 validated missense c.244 p.V82M 0.99 NULL - - no_errors KCNJ10 3766 genome.wustl.edu 36 1 158277963 158277963 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 1 158277963 158277963 G T SNP KCNJ10 NM_002241 human genbank 54_36p -1 reviewed missense c.984 p.S328R 1 HMMPfam_IRK HMMPfam_IRK;superfamily_E set domains;superfamily_Voltage-gated potassium channels - no_errors SPOCD1 90853 genome.wustl.edu 36 1 32053079 32053079 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 1 32053079 32053079 G T SNP SPOCD1 NM_144569 human genbank 54_36p -1 provisional missense c.443 p.A148D NULL - - no_errors ZMYM6 9204 genome.wustl.edu 36 1 35226961 35226961 + Missense_Mutation SNP A A C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 1 35226961 35226961 A C SNP ZMYM6 NM_007167 human genbank 54_36p -1 validated missense c.2309 p.I770S 1 NULL - - no_errors YBX1 4904 genome.wustl.edu 36 1 42935444 42935444 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 1 42935444 42935444 G C SNP YBX1 NM_004559 human genbank 54_36p 1 validated missense c.664 p.D222H 1 NULL HMMPfam_CSD;superfamily_Nucleic acid-binding proteins - no_errors RAD54L 8438 genome.wustl.edu 36 1 46516416 46516416 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 1 46516416 46516416 A G SNP RAD54L NM_003579 human genbank 54_36p 1 reviewed missense c.2119 p.N707D 1 NULL HMMPfam_SNF2_N;HMMPfam_Helicase_C;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors CYP4X1 260293 genome.wustl.edu 36 1 47274354 47274354 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 1 47274354 47274354 C G SNP CYP4X1 NM_178033 human genbank 54_36p 1 reviewed missense c.699 p.H233Q 1 HMMPfam_p450 HMMPfam_p450;superfamily_Cytochrome P450 - no_errors COL24A1 255631 genome.wustl.edu 36 1 86106812 86106812 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 1 86106812 86106812 C T SNP COL24A1 NM_152890 human genbank 54_36p -1 validated missense c.3278 p.R1093K 0.92 NULL - - no_errors SORCS3 22986 genome.wustl.edu 36 10 106972958 106972958 + Silent SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 10 106972958 106972958 G T SNP SORCS3 NM_014978 human genbank 54_36p 1 reviewed silent c.2829 p.G943 0.99 NULL HMMPfam_PKD;superfamily_PKD domain;HMMPfam_BNR;superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase - no_errors OR8K3 219473 genome.wustl.edu 36 11 55842832 55842832 + Silent SNP A A T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 11 55842832 55842832 A T SNP OR8K3 NM_001005202 human genbank 54_36p 1 provisional silent c.474 p.L158 NULL - - no_errors SMTNL1 219537 genome.wustl.edu 36 11 57067040 57067040 + Nonsense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 11 57067040 57067040 G T SNP SMTNL1 NM_001105565 human genbank 54_36p 1 provisional nonsense c.403 p.E135* 0.12 NULL - - no_errors DLG2 1740 genome.wustl.edu 36 11 82858038 82858038 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 11 82858038 82858038 C T SNP DLG2 NM_001364 human genbank 54_36p -1 reviewed missense c.2158 p.E720K 1 HMMPfam_Guanylate_kin HMMPfam_SH3_1;superfamily_SH3-domain;HMMPfam_PDZ;superfamily_PDZ domain-like;HMMPfam_Guanylate_kin;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ZCCHC8 55596 genome.wustl.edu 36 12 121532444 121532444 + Splice_Site SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 12 121532444 121532444 C G SNP ZCCHC8 NM_017612 human genbank 54_36p -1 validated splice_site c.875+1 e9+1 1 - - - no_errors LDHB 3945 genome.wustl.edu 36 12 21688176 21688176 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 12 21688176 21688176 C G SNP LDHB NM_002300 human genbank 54_36p -1 validated missense c.381 p.K127N 1 HMMPfam_Ldh_1_N HMMPfam_Ldh_1_N;HMMPfam_Ldh_1_C;superfamily_LDH C-terminal domain-like;superfamily_NAD(P)-binding Rossmann-fold domains - no_errors TRPC4 7223 genome.wustl.edu 36 13 37123513 37123513 + Silent SNP G C C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G C C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 13 37123513 37123513 G C SNP TRPC4 NM_016179 human genbank 54_36p -1 validated silent c.1968 p.P656 0.99 NULL - - no_errors LOC647288 647288 genome.wustl.edu 36 13 74712540 74712540 + RNA SNP C C A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 13 74712540 74712540 C A SNP LOC647288 XR_017516 human genbank 54_36p -1 model rna NULL NULL 0.004 - - - pseudogene LOC388076 388076 genome.wustl.edu 36 15 19941836 19941836 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 15 19941836 19941836 C G SNP LOC388076 XM_931016 human genbank 54_36p -1 model missense c.375 p.K125N 1 NULL - - pseudogene NTRK3 4916 genome.wustl.edu 36 15 86221209 86221209 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 15 86221209 86221209 C A SNP NTRK3 NM_001012338 human genbank 54_36p -1 reviewed missense c.2481 p.L827F 1 NULL LRRNT;HMMPfam_LRRNT;Pkinase_Tyr;HMMPfam_Pkinase_Tyr;LRR_1;HMMPfam_LRR_1;Protein kinase-like (PK-like);superfamily_Protein kinase-like (PK-like);I-set;HMMPfam_I-set;ig;HMMPfam_ig;Immunoglobulin;superfamily_Immunoglobulin;L domain-like;superfamily_L domain-like - no_errors uc002ddh.1 0 genome.wustl.edu 36 16 15115830 15115830 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 16 15115830 15115830 C T SNP uc002ddh.1 ENST00000340301 human ensembl 54_36p -1 known missense c.1954 p.A652T NULL HMMPfam_GPS;HMMPfam_PLAT;HMMPfam_NPIP;superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) - no_start_codon ACSM2B 348158 genome.wustl.edu 36 16 20461777 20461777 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 16 20461777 20461777 T G SNP ACSM2B NM_001105069 human genbank 54_36p -1 validated missense c.1469 p.E490A 0.98 NULL - - no_errors ZNF624 57547 genome.wustl.edu 36 17 16466375 16466375 + Silent SNP G G A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 17 16466375 16466375 G A SNP ZNF624 NM_020787 human genbank 54_36p -1 validated silent c.2550 p.S850 0.01 NULL - - no_errors TP53 7157 genome.wustl.edu 36 17 7517845 7517845 + Missense_Mutation SNP C T T rs28934576 Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 17 7517845 7517845 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.818 p.R273H 0.81 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 ENSG00000196285 0 genome.wustl.edu 36 2 175292945 175292945 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 2 175292945 175292945 G A SNP ENSG00000196285 ENST00000375183 human ensembl 54_36p 1 known missense c.64 p.A22T 1 NULL - - no_errors MEX3C 51320 genome.wustl.edu 36 18 46957664 46957664 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 18 46957664 46957664 T G SNP MEX3C NM_016626 human genbank 54_36p -1 validated missense c.1035 p.K345N 1 NULL - - no_errors MAN2B1 4125 genome.wustl.edu 36 19 12636790 12636790 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 19 12636790 12636790 T A SNP MAN2B1 NM_000528 human genbank 54_36p -1 reviewed missense c.446 p.E149V 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 OR7C1 26664 genome.wustl.edu 36 19 14771239 14771239 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 19 14771239 14771239 G A SNP OR7C1 NM_198944 human genbank 54_36p -1 validated missense c.710 p.A237V 1 HMMPfam_7tm_1 HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like - no_errors JAK3 3718 genome.wustl.edu 36 19 17798626 17798626 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 19 17798626 17798626 C T SNP JAK3 NM_000215 human genbank 54_36p -1 reviewed missense c.3301 p.G1101R 0.02 NULL Pkinase_Tyr;HMMPfam_Pkinase_Tyr - no_errors LRP1B 53353 genome.wustl.edu 36 2 140930574 140930574 + Missense_Mutation SNP T T A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 2 140930574 140930574 T A SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.9883 p.T3295S 0.03 HMMPfam_EGF 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 LRP1B 53353 genome.wustl.edu 36 2 141175790 141175790 + Missense_Mutation SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 2 141175790 141175790 C G SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.6397 p.V2133L 0.99 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 HAT1 8520 genome.wustl.edu 36 2 172552464 172552464 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 2 172552464 172552464 C T SNP HAT1 NM_003642 human genbank 54_36p 1 reviewed missense c.1034 p.A345V 1 NULL superfamily_Acyl-CoA N-acyltransferases (Nat) - no_errors CDK5R2 8941 genome.wustl.edu 36 2 219533673 219533673 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 2 219533673 219533673 G T SNP CDK5R2 NM_003936 human genbank 54_36p 1 reviewed missense c.887 p.R296L 1 HMMPfam_CDK5_activator HMMPfam_CDK5_activator;superfamily_Cyclin-like - no_errors PSMD1 5707 genome.wustl.edu 36 2 231734360 231734360 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 2 231734360 231734360 G T SNP PSMD1 NM_002807 human genbank 54_36p 1 reviewed missense c.2281 p.V761F 1 NULL - - no_errors C21orf7 56911 genome.wustl.edu 36 21 29468986 29468986 + Frame_Shift_Del DEL A A - Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A - A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 21 29468986 29468986 A - DEL C21orf7 NM_020152 human genbank 54_36p 1 provisional frame_shift_del c.631 p.T211fs 0.902 NULL - (deletion:cds_exon[29468904,29469084]) no_errors TXNRD2 10587 genome.wustl.edu 36 22 18282798 18282798 + Missense_Mutation SNP A A T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 22 18282798 18282798 A T SNP TXNRD2 ENST00000400516 human ensembl 54_36p -1 known missense c.530 p.I177N 0.74 NULL - - no_errors GPR128 84873 genome.wustl.edu 36 3 101856536 101856536 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 3 101856536 101856536 C A SNP GPR128 NM_032787 human genbank 54_36p 1 provisional missense c.1547 p.T516K NULL - - no_errors IRAK2 3656 genome.wustl.edu 36 3 10229964 10229964 + Missense_Mutation SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 3 10229964 10229964 C T SNP IRAK2 NM_001570 human genbank 54_36p 1 reviewed missense c.602 p.A201V 0 NULL Death;HMMPfam_Death;Pkinase;HMMPfam_Pkinase - no_errors ACAD9 28976 genome.wustl.edu 36 3 130107783 130107794 + Splice_Site DEL GTGAGTGGCCCC GTGAGTGGCCCC - Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 GTGAGTGGCCCC GTGAGTGGCCCC GTGAGTGGCCCC - GTGAGTGGCCCC GTGAGTGGCCCC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 3 130107783 130107794 GTGAGTGGCCCC - DEL ACAD9 NM_014049 human genbank 54_36p 1 validated splice_site_del c.NULL e12+1 1.000:1.000:0.997:0.997:0.990:0.661:0.074:0.001:0.002:0.006:0.000:0.000 - - (deletion:intron[130107783,130109717]) no_errors ZBBX 79740 genome.wustl.edu 36 3 168498896 168498896 + Silent SNP T T C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 3 168498896 168498896 T C SNP ZBBX NM_024687 human genbank 54_36p -1 validated silent c.1770 p.Q590 0.69 NULL - - no_errors MAP3K13 9175 genome.wustl.edu 36 3 186648368 186648368 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 3 186648368 186648368 G T SNP MAP3K13 NM_004721 human genbank 54_36p 1 reviewed missense c.949 p.V317F 1 HMMPfam_Pkinase HMMPfam_Pkinase;superfamily_Protein kinase-like (PK-like) - no_errors PDLIM3 27295 genome.wustl.edu 36 4 186664680 186664680 + Silent SNP G A A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G A A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 4 186664680 186664680 G A SNP PDLIM3 NM_014476 human genbank 54_36p -1 reviewed silent c.783 p.D261 0.99 NULL - - no_errors TAS2R1 50834 genome.wustl.edu 36 5 9682483 9682483 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 5 9682483 9682483 C A SNP TAS2R1 NM_019599 human genbank 54_36p -1 reviewed missense c.662 p.G221V NULL - - no_errors ENSG00000181943 0 genome.wustl.edu 36 11 55015968 55015968 + Missense_Mutation SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 11 55015968 55015968 G T SNP ENSG00000181943 ENST00000314657 human ensembl 54_36p 1 known missense c.674 p.C225F 1 NULL HMMPfam_7tm_1;superfamily_Family A G protein-coupled receptor-like - no_errors OR5AK3P 81228 genome.wustl.edu 36 11 56495547 56495547 + Silent SNP T T C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 11 56495547 56495547 T C SNP OR5AK3P ENST00000326876 human ensembl 54_36p 1 known silent c.447 p.Y149 NULL - - no_errors C6orf105 84830 genome.wustl.edu 36 6 11831642 11831643 + Missense_Mutation DNP GC GC AT novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 GC GC GC AT GC GC Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 6 11831642 11831643 GC AT DNP C6orf105 NM_032744 human genbank 54_36p -1 validated missense c.584_583 p.A195I 0.018:0.002 NULL - - no_errors PHF3 23469 genome.wustl.edu 36 6 64447911 64447911 + Missense_Mutation SNP A G G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A G G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 6 64447911 64447911 A G SNP PHF3 NM_015153 human genbank 54_36p 1 provisional missense c.296 p.N99S 1 NULL - - no_errors LOC100129293 100129293 genome.wustl.edu 36 7 63668086 63668086 + RNA SNP G G T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 7 63668086 63668086 G T SNP LOC100129293 XR_038218 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene AASS 10157 genome.wustl.edu 36 7 121545713 121545713 + Missense_Mutation SNP T T G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 7 121545713 121545713 T G SNP AASS NM_005763 human genbank 54_36p -1 reviewed missense c.571 p.S191R 1 NULL HMMPfam_Saccharop_dh;HMMPfam_AlaDh_PNT_C;HMMPfam_AlaDh_PNT_N;superfamily_NAD(P)-binding Rossmann-fold domains;superfamily_Formate/glycerate dehydrogenase catalytic domain-like;superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain - no_errors PKD1L1 168507 genome.wustl.edu 36 7 47853061 47853061 + Silent SNP C C T novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 7 47853061 47853061 C T SNP PKD1L1 NM_138295 human genbank 54_36p -1 reviewed silent c.5094 p.E1698 0.62 NULL - - no_errors SEMA3D 223117 genome.wustl.edu 36 7 84482414 84482414 + Missense_Mutation SNP A A G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 7 84482414 84482414 A G SNP SEMA3D NM_152754 human genbank 54_36p -1 validated missense c.1600 p.C534R 1 HMMPfam_PSI HMMPfam_Sema;superfamily_Sema domain;HMMPfam_PSI;HMMPfam_V-set;superfamily_Plexin repeat;superfamily_Immunoglobulin - no_errors TRPS1 7227 genome.wustl.edu 36 8 116495950 116495950 + Missense_Mutation SNP G G C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 8 116495950 116495950 G C SNP TRPS1 NM_014112 human genbank 54_36p -1 reviewed missense c.3362 p.A1121G 1 NULL HMMPfam_GATA;superfamily_C2H2 and C2HC zinc fingers;superfamily_Glucocorticoid receptor-like (DNA-binding domain) - no_errors LOC649352 649352 genome.wustl.edu 36 8 12281548 12281548 + RNA SNP C C G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 8 12281548 12281548 C G SNP LOC649352 XR_042361 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene KCNQ3 3786 genome.wustl.edu 36 8 133265706 133265706 + Nonsense_Mutation SNP G G A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 8 133265706 133265706 G A SNP KCNQ3 NM_004519 human genbank 54_36p -1 reviewed nonsense c.568 p.R190* 0.97 HMMPfam_Ion_trans HMMPfam_Ion_trans;HMMPfam_KCNQ_channel;superfamily_Voltage-gated potassium channels - no_errors CHD7 55636 genome.wustl.edu 36 8 61913209 61913209 + Silent SNP A A G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 A A A G A A Unknown Valid Somatic Phase_III Capture 454_PCR_WGA dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 8 61913209 61913209 A G SNP CHD7 NM_017780 human genbank 54_36p 1 reviewed silent c.4374 p.K1458 1 NULL HMMPfam_SNF2_N;HMMPfam_Chromo;HMMPfam_Helicase_C;HMMPfam_TCH;superfamily_P-loop containing nucleoside triphosphate hydrolases;superfamily_Chromo domain-like - no_errors RABEPK 10244 genome.wustl.edu 36 9 127035868 127035868 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 9 127035868 127035868 T C SNP RABEPK NM_005833 human genbank 54_36p 1 provisional missense c.907 p.W303R 1 NULL - - no_errors VAV2 7410 genome.wustl.edu 36 9 135646788 135646788 + Missense_Mutation SNP C C A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 C C C A C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 9 135646788 135646788 C A SNP VAV2 NM_003371 human genbank 54_36p -1 reviewed missense c.1111 p.V371F 1 NULL HMMPfam_RhoGEF;HMMPfam_SH2;HMMPfam_SH3_1;superfamily_SH3-domain;HMMPfam_CH;HMMPfam_PH;HMMPfam_C1_1;HMMPfam_SH3_2;superfamily_Calponin-homology domain CH-domain;superfamily_DBL homology domain (DH-domain);superfamily_PH domain-like;superfamily_SH2 domain;superfamily_Cysteine-rich domain - no_errors ENSG00000162685 0 genome.wustl.edu 36 2 91207257 91207257 + Splice_Site SNP T T G novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b 2 91207257 91207257 T G SNP ENSG00000162685 ENST00000294715 human ensembl 54_36p -1 known splice_site c.1-2 e1-2 0 - - - no_start_codon:no_stop_codon IRS4 8471 genome.wustl.edu 36 X 107863319 107863319 + Missense_Mutation SNP G G A novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b X 107863319 107863319 G A SNP IRS4 NM_003604 human genbank 54_36p -1 reviewed missense c.2912 p.P971L 0.06 NULL HMMPfam_PH;HMMPfam_IRS;superfamily_PH domain-like - no_errors ODZ1 10178 genome.wustl.edu 36 X 123613594 123613594 + Missense_Mutation SNP T T C novel Unknown TCGA-25-1315-01A-01W-0494-09 TCGA-25-1315-10A-01W-0494-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 52f45b5e-af86-454c-be63-a56c6c21b730 77383f45-bd83-4d11-86e5-c4ce8a0ae73b X 123613594 123613594 T C SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.1430 p.D477G 0.85 NULL HMMPfam_NHL;HMMPfam_EGF;HMMPfam_RHS_repeat;superfamily_Carboxypeptidase regulatory domain;HMMPfam_Ten_N;superfamily_Nitrous oxide reductase N-terminal domain;HMMPfam_EGF_2;superfamily_NHL repeat;superfamily_EGF/Laminin - no_errors