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 C10orf79 80217 genome.wustl.edu 36 10 105917365 105917365 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 10 105917365 105917365 G C SNP C10orf79 ENST00000278064 human ensembl 54_36p -1 known missense c.2605 p.L869V 0.05 NULL - - no_errors GPR158 57512 genome.wustl.edu 36 10 25927883 25927883 + Missense_Mutation SNP C C T Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 10 25927883 25927883 C T SNP GPR158 NM_020752 human genbank 54_36p 1 validated missense c.3322 p.R1108C 0 NULL HMMPfam_7tm_3,superfamily_EGF/Laminin - no_errors SLIT1 6585 genome.wustl.edu 36 10 98792711 98792711 + Missense_Mutation SNP G G C Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G C G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 10 98792711 98792711 G C SNP SLIT1 NM_003061 human genbank 54_36p -1 validated missense c.2101 p.P701A 1 HMMPfam_LRRCT 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 CRTAM 56253 genome.wustl.edu 36 11 122231688 122231688 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 11 122231688 122231688 G T SNP CRTAM NM_019604 human genbank 54_36p 1 validated missense c.566 p.G189V 0.01 HMMPfam_C2-set_2 HMMPfam_V-set;HMMPfam_C2-set_2;superfamily_Immunoglobulin - no_errors FSHB 2488 genome.wustl.edu 36 11 30211794 30211794 + Silent SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 11 30211794 30211794 T C SNP FSHB NM_000510 human genbank 54_36p 1 reviewed silent c.261 p.H87 0.186 HMMPfam_Cys_knot HMMPfam_Cys_knot,superfamily_Cystine-knot cytokines - no_errors QSER1 79832 genome.wustl.edu 36 11 32954531 32954531 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 11 32954531 32954531 T C SNP QSER1 NM_001076786 human genbank 54_36p 1 provisional missense c.5143 p.W1715R 1 NULL - - no_errors CREB3L1 90993 genome.wustl.edu 36 11 46289268 46289268 + Silent SNP G G A Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 11 46289268 46289268 G A SNP CREB3L1 ENST00000288400 human ensembl 54_36p 1 known silent c.705 p.A235 0.666 NULL superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMPfam_bZIP_1 - no_errors OR51G1 79324 genome.wustl.edu 36 11 4901325 4901325 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 11 4901325 4901325 A G SNP OR51G1 NM_001005237 human genbank 54_36p -1 provisional missense c.821 p.V274A NULL - - no_errors DLG2 1740 genome.wustl.edu 36 11 82860373 82860373 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 11 82860373 82860373 C T SNP DLG2 NM_001364 human genbank 54_36p -1 reviewed missense c.2075 p.R692Q 1 NULL HMMPfam_SH3_1;superfamily_SH3-domain;HMMPfam_PDZ;superfamily_PDZ domain-like;HMMPfam_Guanylate_kin;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors LRRIQ1 84125 genome.wustl.edu 36 12 84042150 84042150 + Silent SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 12 84042150 84042150 T C SNP LRRIQ1 NM_001079910 human genbank 54_36p 1 validated silent c.3729 p.T1243 NULL - - no_errors HAL 3034 genome.wustl.edu 36 12 94894370 94894370 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 12 94894370 94894370 C G SNP HAL NM_002108 human genbank 54_36p -1 reviewed missense c.1801 p.E601Q 1 NULL HMMPfam_PAL;superfamily_L-aspartase-like - no_errors MIR20B 574032 genome.wustl.edu 36 X 133131530 133131530 + RNA SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 X 133131530 133131530 T C SNP MIRN20B ENST00000384977 human ensembl 54_36p -1 known rna NULL NULL 1 - - - no_errors ENSG00000211954 0 genome.wustl.edu 36 14 105876484 105876484 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 14 105876484 105876484 T C SNP ENSG00000211954 ENST00000390614 human ensembl 54_36p -1 known missense c.124 p.T42A 0 NULL - - no_stop_codon:bad_bp_length_for_coding_region TRA@ 6955 genome.wustl.edu 36 14 22001981 22001981 + Missense_Mutation SNP A A C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 14 22001981 22001981 A C SNP TRA@ ENST00000390477 human ensembl 54_36p 1 known missense c.218 p.Q73P 0.91 NULL - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ENSG00000184624 0 genome.wustl.edu 36 18 15261461 15261461 + Silent SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 18 15261461 15261461 T C SNP ENSG00000184624 ENST00000330020 human ensembl 54_36p 1 known silent c.1248 p.H416 1 NULL - - no_start_codon:no_stop_codon TMEM159 57146 genome.wustl.edu 36 16 21098357 21098357 + Silent SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 16 21098357 21098357 C T SNP TMEM159 NM_020422 human genbank 54_36p 1 validated silent c.465 p.F155 NULL - - no_errors SPECC1 92521 genome.wustl.edu 36 17 20048888 20048888 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 17 20048888 20048888 T C SNP CYTSB NM_001033553 human genbank 54_36p 1 validated missense c.934 p.S312P 0.54 NULL HMMPfam_CH;superfamily_Spectrin repeat;superfamily_Calponin-homology domain CH-domain - no_errors GRB7 2886 genome.wustl.edu 36 17 35156647 35156647 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 17 35156647 35156647 C T SNP GRB7 NM_001030002 human genbank 54_36p 1 reviewed missense c.1570 p.R524C 1 NULL RA,HMMPfam_RA,SH2,HMMPfam_SH2,PH,HMMPfam_PH,BPS,HMMPfam_BPS - no_errors TP53 7157 genome.wustl.edu 36 17 7519119 7519119 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 17 7519119 7519119 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.536 p.H179R 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 KCNAB3 9196 genome.wustl.edu 36 17 7768240 7768240 + Silent SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 17 7768240 7768240 C T SNP KCNAB3 NM_004732 human genbank 54_36p -1 reviewed silent c.780 p.L260 1 NULL - - no_errors LOC729602 729602 genome.wustl.edu 36 18 11619696 11619696 + Silent SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 18 11619696 11619696 C T SNP LOC729602 XM_001717235 human genbank 54_36p -1 model silent c.141 p.A47 0 NULL - - no_errors C18orf8 29919 genome.wustl.edu 36 18 19354206 19354206 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 18 19354206 19354206 G A SNP C18orf8 NM_013326 human genbank 54_36p 1 validated missense c.892 p.G298S 1 NULL HMMPfam_Mic1;superfamily_WD40 repeat-like - no_errors MAST1 22983 genome.wustl.edu 36 19 12830432 12830432 + Missense_Mutation SNP G G C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 19 12830432 12830432 G C SNP MAST1 NM_014975 human genbank 54_36p 1 provisional missense c.1245 p.Q415H 1 HMMPfam_Pkinase Pkinase;HMMPfam_Pkinase;Pkinase_C;HMMPfam_Pkinase_C;PDZ;HMMPfam_PDZ;DUF1908;HMMPfam_DUF1908 - no_errors NOTCH3 4854 genome.wustl.edu 36 19 15159004 15159004 + Silent SNP G G A Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 19 15159004 15159004 G A SNP NOTCH3 NM_000435 human genbank 54_36p -1 reviewed silent c.1752 p.D584 0.992 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 ZNF493 284443 genome.wustl.edu 36 19 21379800 21379800 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 19 21379800 21379800 A G SNP ZNF493 NM_001076678 human genbank 54_36p 1 validated missense c.60 p.I20M 0.99 NULL - - no_errors TSHZ3 57616 genome.wustl.edu 36 19 36461918 36461918 + Silent SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 19 36461918 36461918 G A SNP TSHZ3 NM_020856 human genbank 54_36p -1 validated silent c.621 p.I207 1 NULL - - no_errors APLP1 333 genome.wustl.edu 36 19 41061889 41061889 + Missense_Mutation SNP T T A Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T A T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 19 41061889 41061889 T A SNP APLP1 NM_001024807 human genbank 54_36p 1 reviewed missense c.1787 p.L596H 0.95 NULL - - no_errors GLI2 2736 genome.wustl.edu 36 2 121401446 121401446 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 2 121401446 121401446 C T SNP GLI2 NM_005270 human genbank 54_36p 1 reviewed missense c.188 p.P63L 1 NULL HMMPfam_zf-C2H2;superfamily_Kazal-type serine protease inhibitors;superfamily_C2H2 and C2HC zinc fingers - no_errors SNRNP200 23020 genome.wustl.edu 36 2 96316472 96316472 + Missense_Mutation SNP T T C novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 2 96316472 96316472 T C SNP SNRNP200 NM_014014 human genbank 54_36p -1 validated missense c.3638 p.K1213R 1 NULL - - no_errors TAF1B 9014 genome.wustl.edu 36 2 9991399 9991399 + Missense_Mutation SNP T T A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T A T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 2 9991399 9991399 T A SNP TAF1B NM_005680 human genbank 54_36p 1 reviewed missense c.1602 p.N534K 1 NULL - - no_errors PTPRT 11122 genome.wustl.edu 36 20 40160598 40160598 + Silent SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 20 40160598 40160598 C T SNP PTPRT NM_133170 human genbank 54_36p -1 reviewed silent c.3780 p.K1260 1 NULL - - no_errors IFT52 51098 genome.wustl.edu 36 20 41704678 41704678 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 20 41704678 41704678 G T SNP IFT52 NM_016004 human genbank 54_36p 1 validated missense c.1266 p.Q422H 1 NULL - - no_errors FERMT1 55612 genome.wustl.edu 36 20 6005909 6005909 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 20 6005909 6005909 C T SNP FERMT1 NM_017671 human genbank 54_36p -1 validated missense c.1945 p.G649S 1 NULL - - no_errors LTN1 26046 genome.wustl.edu 36 21 29225362 29225362 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 21 29225362 29225362 G T SNP RNF160 NM_015565 human genbank 54_36p -1 validated missense c.5224 p.H1742N 1 NULL HMMPfam_zf-C3HC4;superfamily_ARM repeat;superfamily_RING/U-box - no_errors COL6A1 1291 genome.wustl.edu 36 21 46246965 46246965 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 21 46246965 46246965 C G SNP COL6A1 NM_001848 human genbank 54_36p 1 reviewed missense c.2347 p.R783G 0.01 HMMPfam_VWA HMMPfam_Collagen;superfamily_vWA-like;HMMPfam_VWA - no_errors SIDT1 54847 genome.wustl.edu 36 3 114812567 114812567 + Silent SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 3 114812567 114812567 C T SNP SIDT1 NM_017699 human genbank 54_36p 1 validated silent c.1743 p.I581 1 NULL - - no_errors MED12L 116931 genome.wustl.edu 36 3 152560983 152560983 + Missense_Mutation SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 3 152560983 152560983 C T SNP MED12L NM_053002 human genbank 54_36p 1 validated missense c.2752 p.P918S 1 NULL - - no_errors ITIH3 3699 genome.wustl.edu 36 3 52808870 52808870 + Missense_Mutation SNP T T C Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 T T T C T T Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 3 52808870 52808870 T C SNP ITIH3 NM_002217 human genbank 54_36p 1 validated missense c.968 p.I323T 1 NULL - - no_errors PPBP 5473 genome.wustl.edu 36 4 75072567 75072567 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 4 75072567 75072567 G T SNP PPBP NM_002704 human genbank 54_36p -1 reviewed missense c.118 p.Q40K 0.01 NULL HMMPfam_IL8;superfamily_Interleukin 8-like chemokines - no_errors GRID2 2895 genome.wustl.edu 36 4 94225441 94225441 + Missense_Mutation SNP G G T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 4 94225441 94225441 G T SNP GRID2 NM_001510 human genbank 54_36p 1 validated missense c.517 p.D173Y 1 HMMPfam_ANF_receptor HMMPfam_Lig_chan;HMMPfam_ANF_receptor;superfamily_Periplasmic binding protein-like I;superfamily_Periplasmic binding protein-like II - no_errors PCDH1 5097 genome.wustl.edu 36 5 141224972 141224972 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 5 141224972 141224972 G A SNP PCDH1 NM_032420 human genbank 54_36p -1 reviewed missense c.1108 p.R370C 1 NULL - - no_errors LPCAT1 79888 genome.wustl.edu 36 5 1532751 1532751 + Silent SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 5 1532751 1532751 G A SNP LPCAT1 NM_024830 human genbank 54_36p -1 validated silent c.801 p.N267 0.7 NULL - - no_errors HK3 3101 genome.wustl.edu 36 5 176243669 176243669 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 5 176243669 176243669 G A SNP HK3 NM_002115 human genbank 54_36p -1 reviewed missense c.1930 p.R644W 0.98 HMMPfam_Hexokinase_1 HMMPfam_Hexokinase_1;HMMPfam_Hexokinase_2;superfamily_Actin-like ATPase domain - no_errors HMGCR 3156 genome.wustl.edu 36 5 74682418 74682418 + Missense_Mutation SNP C C G novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 5 74682418 74682418 C G SNP HMGCR NM_000859 human genbank 54_36p 1 reviewed missense c.829 p.P277A 1 NULL HMMPfam_HMG-CoA_red;superfamily_NAD-binding domain of HMG-CoA reductase;superfamily_Substrate-binding domain of HMG-CoA reductase;superfamily_Multidrug efflux transporter AcrB transmembrane domain - no_errors LAMA2 3908 genome.wustl.edu 36 6 129844113 129844113 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 6 129844113 129844113 G A SNP LAMA2 NM_000426 human genbank 54_36p 1 reviewed missense c.7585 p.V2529I 1 NULL HMMPfam_Laminin_B;HMMPfam_Laminin_EGF;HMMPfam_Laminin_N;superfamily_Galactose-binding domain-like;superfamily_Concanavalin A-like lectins/glucanases;superfamily_Prefoldin;HMMPfam_Laminin_I;HMMPfam_Laminin_II;HMMPfam_Laminin_G_1;HMMPfam_Laminin_G_2;superfamily_ADP-ribosylation;superfamily_EGF/Laminin - no_errors L3MBTL3 84456 genome.wustl.edu 36 6 130418077 130418077 + Silent SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 6 130418077 130418077 G A SNP L3MBTL3 NM_032438 human genbank 54_36p 1 validated silent c.651 p.S217 NULL - - no_errors LRRC16A 55604 genome.wustl.edu 36 6 25714415 25714415 + Missense_Mutation SNP C C T Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 6 25714415 25714415 C T SNP LRRC16A NM_017640 human genbank 54_36p 1 validated missense c.3647 p.S1216F 0.998 NULL - - no_errors TOB2P1 387049 genome.wustl.edu 36 6 28294429 28294429 + RNA SNP G G T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G T G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 6 28294429 28294429 G T SNP LOC222699 NR_002936 human genbank 54_36p -1 validated rna NULL NULL 0.154 - - - pseudogene BBS9 27241 genome.wustl.edu 36 7 33364087 33364087 + Missense_Mutation SNP A A G novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 7 33364087 33364087 A G SNP BBS9 NM_198428 human genbank 54_36p 1 reviewed missense c.1648 p.I550V 1 NULL - - no_errors ANLN 54443 genome.wustl.edu 36 7 36433083 36433083 + Missense_Mutation SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 7 36433083 36433083 G A SNP ANLN NM_018685 human genbank 54_36p 1 validated missense c.2804 p.R935Q 1 NULL HMMPfam_PH;superfamily_PH domain-like - no_errors DLC1 10395 genome.wustl.edu 36 8 13295574 13295574 + Splice_Site SNP C C T novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 8 13295574 13295574 C T SNP DLC1 NM_182643 human genbank 54_36p -1 reviewed splice_site c.1174-1 e3-1 1 - - - no_errors DBH 1621 genome.wustl.edu 36 9 135497350 135497350 + Silent SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 9 135497350 135497350 G A SNP DBH NM_000787 human genbank 54_36p 1 reviewed silent c.687 p.T229 0.978 NULL - - no_errors NR0B1 190 genome.wustl.edu 36 X 30236262 30236262 + Silent SNP G G A novel Unknown TCGA-04-1346-01A-01W-0488-09 TCGA-04-1346-11A-01W-0489-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 9f494df7-f64f-4935-ae42-eeb0b94624dc 83363a24-76e6-4784-821e-829e8eee9ab6 X 30236262 30236262 G A SNP NR0B1 NM_000475 human genbank 54_36p -1 reviewed silent c.1140 p.Y380 1 HMMPfam_Hormone_recep HMMPfam_Hormone_recep;superfamily_Nuclear receptor ligand-binding domain - no_errors