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 ZNF232 7775 genome.wustl.edu 36 17 4950334 4950334 + Nonsense_Mutation SNP G A A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 17 4950334 4950334 G A SNP ZNF232 NM_014519 human genbank 54_36p -1 validated nonsense c.844 p.Q282* 0.037 superfamily_C2H2 and C2HC zinc fingers HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors KIAA0802 23255 genome.wustl.edu 36 18 8788104 8788104 + Missense_Mutation SNP C C T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 18 8788104 8788104 C T SNP KIAA0802 NM_015210 human genbank 54_36p +1 predicted missense c.2251 p.P751S 0.996 NULL NULL - no_errors ATP2B2 491 genome.wustl.edu 36 3 10417673 10417673 + Missense_Mutation SNP G G T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 3 10417673 10417673 G T SNP ATP2B2 NM_001001331 human genbank 54_36p -1 reviewed missense c.745 p.R249S 1.000 superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,HMMPfam_Hydrolase,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Cation_ATPase_C - no_errors MYOCD 93649 genome.wustl.edu 36 17 12566929 12566929 + Missense_Mutation SNP G G C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 17 12566929 12566929 G C SNP MYOCD NM_153604 human genbank 54_36p +1 provisional missense c.294 p.K98N 1.000 NULL HMMSmart_SM00707,superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513 - no_errors OR7A5 26659 genome.wustl.edu 36 19 14799717 14799717 + Missense_Mutation SNP A A C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 19 14799717 14799717 A C SNP OR7A5 NM_017506 human genbank 54_36p -1 validated missense c.337 p.F113V 0.028 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PTPRO 5800 genome.wustl.edu 36 12 15545973 15545973 + Missense_Mutation SNP C C T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 12 15545973 15545973 C T SNP PTPRO NM_030667 human genbank 54_36p +1 reviewed missense c.814 p.P272S 0.005 NULL superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors ANKLE1 126549 genome.wustl.edu 36 19 17257546 17257546 + Silent SNP C C T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 19 17257546 17257546 C T SNP ANKLE1 NM_152363 human genbank 54_36p +1 validated silent c.1560 p.C520 0.969 NULL superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,HMMPfam_LEM - no_errors MYOD1 4654 genome.wustl.edu 36 11 17699087 17699087 + Nonsense_Mutation SNP C A A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 11 17699087 17699087 C A SNP MYOD1 NM_002478 human genbank 54_36p +1 reviewed nonsense c.693 p.Y231* 0.996 NULL HMMPfam_Basic,HMMSmart_BASIC,superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH - no_errors GATAD2A 54815 genome.wustl.edu 36 19 19464513 19464513 + Missense_Mutation SNP G G A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 19 19464513 19464513 G A SNP GATAD2A NM_017660 human genbank 54_36p +1 provisional missense c.97 p.A33T 0.004 NULL superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA - no_errors ALDH3A2 224 genome.wustl.edu 36 17 19492924 19492924 + Silent SNP G T T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 17 19492924 19492924 G T SNP ALDH3A2 NM_001031806 human genbank 54_36p +1 reviewed silent c.48 p.R16 0.912 superfamily_Aldehyde_DH/Histidinol_DH superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS - no_errors ZNF253 56242 genome.wustl.edu 36 19 19863770 19863770 + Missense_Mutation SNP G G C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 19 19863770 19863770 G C SNP ZNF253 NM_021047 human genbank 54_36p +1 provisional missense c.714 p.K238N 0.001 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors HTR6 3362 genome.wustl.edu 36 1 19877751 19877751 + Silent SNP G A A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 1 19877751 19877751 G A SNP HTR6 NM_000871 human genbank 54_36p +1 provisional silent c.819 p.L273 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors BCR 613 genome.wustl.edu 36 22 21959403 21959403 + Missense_Mutation SNP G C C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 22 21959403 21959403 G C SNP BCR NM_004327 human genbank 54_36p +1 reviewed missense c.2464 p.E822Q 1.000 superfamily_PH domain-like,HMMSmart_SM00233 superfamily_Bcr-Abl oncoprotein oligomerization domain,HMMPfam_Bcr-Abl_Oligo,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMSmart_SM00233,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors RNF17 56163 genome.wustl.edu 36 13 24261856 24261856 + Missense_Mutation SNP A A G novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 13 24261856 24261856 A G SNP RNF17 NM_031277 human genbank 54_36p +1 reviewed missense c.881 p.E294G 1.000 NULL superfamily_RING/U-box,PatternScan_ZF_RING_1,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333,superfamily_Staphylococcal nuclease - no_errors ASXL2 55252 genome.wustl.edu 36 2 25826289 25826289 + Missense_Mutation SNP T C C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 2 25826289 25826289 T C SNP ASXL2 NM_018263 human genbank 54_36p -1 validated missense c.1640 p.Q547R 0.352 NULL NULL - no_errors STIM2 57620 genome.wustl.edu 36 4 26471852 26471852 + Missense_Mutation SNP C T T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 4 26471852 26471852 C T SNP STIM2 NM_020860 human genbank 54_36p +1 reviewed missense c.175 p.H59Y 0.427 NULL superfamily_SAM/Pointed domain,HMMPfam_SAM_2 - no_errors STIM2 57620 genome.wustl.edu 36 4 26471880 26471880 + Missense_Mutation SNP C G G novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 4 26471880 26471880 C G SNP STIM2 NM_020860 human genbank 54_36p +1 reviewed missense c.203 p.P68R 0.845 NULL superfamily_SAM/Pointed domain,HMMPfam_SAM_2 - no_errors STX12 23673 genome.wustl.edu 36 1 27972447 27972447 + Silent SNP C T T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 1 27972447 27972447 C T SNP STX12 NM_177424 human genbank 54_36p +1 validated silent c.42 p.P14 0.955 HMMSmart_SM00503 HMMSmart_SM00503,superfamily_t-snare proteins,HMMPfam_Syntaxin,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN - no_errors MDC1 9656 genome.wustl.edu 36 6 30788611 30788611 + Missense_Mutation SNP C C G novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 6 30788611 30788611 C G SNP MDC1 NM_014641 human genbank 54_36p -1 reviewed missense c.1087 p.A363P 0.005 NULL superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,superfamily_BRCT domain,HMMPfam_BRCT - no_errors SYNJ1 8867 genome.wustl.edu 36 21 32989320 32989320 + Missense_Mutation SNP C C G novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 21 32989320 32989320 C G SNP SYNJ1 NM_003895 human genbank 54_36p -1 validated missense c.623 p.S208T 1.000 HMMPfam_Syja_N HMMPfam_Syja_N,superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD - no_errors C1orf149 64769 genome.wustl.edu 36 1 37747699 37747699 + Missense_Mutation SNP G G A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 1 37747699 37747699 G A SNP C1orf149 NM_022756 human genbank 54_36p -1 predicted missense c.238 p.R80W 0.998 HMMPfam_NuA4 HMMPfam_NuA4 - no_errors RPGR 6103 genome.wustl.edu 36 X 38067111 38067111 + Missense_Mutation SNP G G C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b X 38067111 38067111 G C SNP RPGR NM_001034853 human genbank 54_36p -1 reviewed missense c.186 p.N62K 1.000 superfamily_RCC1/BLIP-II,HMMPfam_RCC1 superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1 - no_errors DDHD2 23259 genome.wustl.edu 36 8 38214820 38214820 + Silent SNP G G T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 8 38214820 38214820 G T SNP DDHD2 NM_015214 human genbank 54_36p +1 provisional silent c.558 p.T186 0.768 NULL HMMPfam_WWE,HMMSmart_SM00454,HMMPfam_SAM_1,superfamily_SAM/Pointed domain,HMMPfam_DDHD - no_errors TLR6 10333 genome.wustl.edu 36 4 38505157 38505157 + Missense_Mutation SNP C C G novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 4 38505157 38505157 C G SNP TLR6 NM_006068 human genbank 54_36p -1 reviewed missense c.2333 p.R778T 1.000 superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR - no_errors INHBA 3624 genome.wustl.edu 36 7 41696166 41696166 + Missense_Mutation SNP C C A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 7 41696166 41696166 C A SNP INHBA NM_002192 human genbank 54_36p -1 reviewed missense c.888 p.Q296H 1.000 NULL HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1 - no_errors ABCC10 89845 genome.wustl.edu 36 6 43508273 43508273 + Missense_Mutation SNP G G C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 6 43508273 43508273 G C SNP ABCC10 NM_033450 human genbank 54_36p +1 reviewed missense c.448 p.G150R 0.109 NULL superfamily_ABC_TM_1,HMMPfam_ABC_membrane,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors LARS2 23395 genome.wustl.edu 36 3 45534528 45534528 + Missense_Mutation SNP C C T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 3 45534528 45534528 C T SNP LARS2 NM_015340 human genbank 54_36p +1 reviewed missense c.2174 p.A725V 1.000 superfamily_tRNAsyn_1a_bind,HMMPfam_Anticodon_1 superfamily_SSF52374,HMMPfam_tRNA-synt_1g,PatternScan_AA_TRNA_LIGASE_I,superfamily_ValRS_IleRS_edit,HMMPfam_tRNA-synt_1,superfamily_tRNAsyn_1a_bind,HMMPfam_Anticodon_1 - no_errors CBLN1 869 genome.wustl.edu 36 16 47872793 47872793 + Missense_Mutation SNP C C A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 16 47872793 47872793 C A SNP CBLN1 NM_004352 human genbank 54_36p -1 validated missense c.85 p.V29L 1.000 NULL HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q - no_errors KLRAQ1 129285 genome.wustl.edu 36 2 48555365 48555365 + Silent SNP G G C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 2 48555365 48555365 G C SNP KLRAQ1 NM_152994 human genbank 54_36p +1 validated silent c.1128 p.A376 0.008 HMMPfam_TTKRSYEDQ HMMPfam_KLRAQ,HMMPfam_TTKRSYEDQ - no_errors FRMPD2 143162 genome.wustl.edu 36 10 49129746 49129746 + Missense_Mutation SNP A A G novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 10 49129746 49129746 A G SNP FRMPD2 ENST00000305531 human ensembl 54_36p -1 known missense c.14 p.I5T 0.270 NULL HMMSmart_KIND,superfamily_SSF54236,HMMSmart_B41,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,superfamily_SSF50729,HMMPfam_FERM_C,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ - no_errors CPT1B 1375 genome.wustl.edu 36 22 49354930 49354930 + Missense_Mutation SNP T C C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 22 49354930 49354930 T C SNP CPT1B NM_004377 human genbank 54_36p -1 reviewed missense c.2176 p.I726V 1.000 HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2 - no_errors MAGED1 9500 genome.wustl.edu 36 X 51661538 51661538 + Silent SNP G G A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b X 51661538 51661538 G A SNP MAGED1 NM_001005333 human genbank 54_36p +1 reviewed silent c.2277 p.G759 0.999 NULL HMMPfam_MAGE - no_errors HOXC13 3229 genome.wustl.edu 36 12 52625089 52625089 + Missense_Mutation SNP C C A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 12 52625089 52625089 C A SNP HOXC13 NM_017410 human genbank 54_36p +1 reviewed missense c.775 p.R259S 0.995 superfamily_Homeodomain_like superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors SMUG1 23583 genome.wustl.edu 36 12 52862464 52862464 + Missense_Mutation SNP G G A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 12 52862464 52862464 G A SNP SMUG1 NM_014311 human genbank 54_36p -1 provisional missense c.496 p.P166S 1.000 superfamily_DNA glycosylase,HMMPfam_UDG superfamily_DNA glycosylase,HMMPfam_UDG - no_errors FAM120C 54954 genome.wustl.edu 36 X 54178135 54178135 + Missense_Mutation SNP G G T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b X 54178135 54178135 G T SNP FAM120C NM_017848 human genbank 54_36p -1 validated missense c.1470 p.S490R 0.874 NULL NULL - no_errors GCH1 2643 genome.wustl.edu 36 14 54396158 54396158 + Missense_Mutation SNP T T A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 14 54396158 54396158 T A SNP GCH1 NM_000161 human genbank 54_36p -1 reviewed missense c.500 p.K167I 1.000 superfamily_Tetrahydrobiopterin biosynthesis enzymes-like,HMMPfam_GTP_cyclohydroI superfamily_Tetrahydrobiopterin biosynthesis enzymes-like,PatternScan_GTP_CYCLOHYDROL_1_1,HMMPfam_GTP_cyclohydroI,PatternScan_GTP_CYCLOHYDROL_1_2 - no_errors PCK1 5105 genome.wustl.edu 36 20 55570071 55570071 + Silent SNP C C T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 20 55570071 55570071 C T SNP PCK1 NM_002591 human genbank 54_36p +1 reviewed silent c.198 p.L66 1.000 superfamily_PEP_carboxykinase_N,HMMPfam_PEPCK superfamily_PEP_carboxykinase_N,HMMPfam_PEPCK,superfamily_SSF53795,PatternScan_PEPCK_GTP - no_errors OR5AK2 390181 genome.wustl.edu 36 11 56513471 56513471 + Nonsense_Mutation SNP C C A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 11 56513471 56513471 C A SNP OR5AK2 NM_001005323 human genbank 54_36p +1 provisional nonsense c.507 p.C169* 0.089 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors P2RX3 5024 genome.wustl.edu 36 11 56892435 56892435 + Missense_Mutation SNP C C A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 11 56892435 56892435 C A SNP P2RX3 NM_002559 human genbank 54_36p +1 reviewed missense c.951 p.N317K 1.000 HMMPfam_P2X_receptor HMMPfam_P2X_receptor,PatternScan_P2X_RECEPTOR - no_errors C14orf149 112849 genome.wustl.edu 36 14 59020450 59020450 + Missense_Mutation SNP C C A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 14 59020450 59020450 C A SNP C14orf149 NM_144581 human genbank 54_36p -1 provisional missense c.338 p.R113L 1.000 superfamily_Diaminopimelate epimerase-like,HMMPfam_Pro_racemase superfamily_Diaminopimelate epimerase-like,HMMPfam_Pro_racemase - no_errors FLJ38723 255180 genome.wustl.edu 36 15 60325988 60325988 + RNA SNP G G C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 15 60325988 60325988 G C SNP FLJ38723 XR_041381 human genbank 54_36p -1 model rna NULL NULL 0.942 - - - no_errors AHNAK 79026 genome.wustl.edu 36 11 62054328 62054328 + Missense_Mutation SNP G G T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 11 62054328 62054328 G T SNP AHNAK NM_001620 human genbank 54_36p -1 validated missense c.4137 p.H1379Q 1.000 NULL superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_CheC - no_errors SPTB 6710 genome.wustl.edu 36 14 64318980 64318980 + Silent SNP C C A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 14 64318980 64318980 C A SNP SPTB NM_001024858 human genbank 54_36p -1 validated silent c.4047 p.L1349 0.013 HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors ZWILCH 55055 genome.wustl.edu 36 15 64608244 64608244 + Missense_Mutation SNP A A G novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 15 64608244 64608244 A G SNP ZWILCH NM_017975 human genbank 54_36p +1 validated missense c.970 p.T324A 0.338 HMMPfam_DUF2352 HMMPfam_DUF2352 - no_errors RPE65 6121 genome.wustl.edu 36 1 68669396 68669396 + Missense_Mutation SNP C C G novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 1 68669396 68669396 C G SNP RPE65 NM_000329 human genbank 54_36p -1 reviewed missense c.1390 p.D464H 0.929 HMMPfam_RPE65 HMMPfam_RPE65 - no_errors KCNQ5 56479 genome.wustl.edu 36 6 73900036 73900036 + Silent SNP C C T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 6 73900036 73900036 C T SNP KCNQ5 NM_019842 human genbank 54_36p +1 reviewed silent c.1419 p.F473 1.000 HMMPfam_KCNQ_channel superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel - no_errors USP54 159195 genome.wustl.edu 36 10 74947103 74947103 + Missense_Mutation SNP C C G novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 10 74947103 74947103 C G SNP USP54 NM_152586 human genbank 54_36p -1 provisional missense c.3087 p.K1029N 0.005 NULL superfamily_Cysteine proteinases,HMMPfam_UCH - no_errors LOC440015 0 genome.wustl.edu 36 3 75801058 75801058 + RNA SNP G G A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 3 75801058 75801058 G A SNP LOC440015 XR_015234 human genbank 54_36p +1 model rna NULL NULL 0.012 - - - no_errors ACSBG1 23205 genome.wustl.edu 36 15 76273917 76273917 + Missense_Mutation SNP T T C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 15 76273917 76273917 T C SNP ACSBG1 NM_015162 human genbank 54_36p -1 reviewed missense c.439 p.K147E 1.000 superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING - no_errors LOC648000 648000 genome.wustl.edu 36 5 76914531 76914531 + Missense_Mutation SNP A A G novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 5 76914531 76914531 A G SNP LOC648000 XM_001722435 human genbank 54_36p +1 model missense c.608 p.H203R 1.000 superfamily_Ribosomal protein L30p/L7e HMMPfam_Ribosomal_L30_N,HMMPfam_Ribosomal_L30,superfamily_Ribosomal protein L30p/L7e,PatternScan_RIBOSOMAL_L30 - pseudogene ENSG00000214069 0 genome.wustl.edu 36 17 78379187 78379187 + Missense_Mutation SNP C T T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 17 78379187 78379187 C T SNP ENSG00000214069 ENST00000397438 human ensembl 54_36p +1 known missense c.170 p.T57M 0.980 NULL NULL - no_stop_codon LOC727874 727874 genome.wustl.edu 36 X 79703636 79703636 + RNA SNP T T A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b X 79703636 79703636 T A SNP LOC727874 XR_042356 human genbank 54_36p +1 model rna NULL NULL 0.999 - - - pseudogene MAN2A2 4122 genome.wustl.edu 36 15 89249691 89249691 + Silent SNP G G A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 15 89249691 89249691 G A SNP MAN2A2 NM_006122 human genbank 54_36p +1 validated silent c.339 p.P113 0.645 NULL superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38,superfamily_SSF88688,HMMPfam_Alpha-mann_mid,superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C - no_errors PRC1 9055 genome.wustl.edu 36 15 89313758 89313758 + Missense_Mutation SNP C C A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 15 89313758 89313758 C A SNP PRC1 NM_003981 human genbank 54_36p -1 reviewed missense c.1672 p.G558C 1.000 HMMPfam_MAP65_ASE1 HMMPfam_MAP65_ASE1 - no_errors LOC100132302 0 genome.wustl.edu 36 X 91125016 91125016 + RNA SNP T T G novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b X 91125016 91125016 T G SNP LOC100132302 XR_038899 human genbank 54_36p -1 model rna NULL NULL 0.998 - - - pseudogene SAMD9L 219285 genome.wustl.edu 36 7 92602974 92602974 + Missense_Mutation SNP C C G novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 7 92602974 92602974 C G SNP SAMD9L NM_152703 human genbank 54_36p -1 validated missense c.247 p.D83H 0.000 superfamily_SAM/Pointed domain superfamily_SAM/Pointed domain - no_errors C14orf48 256369 genome.wustl.edu 36 14 93537274 93537274 + Missense_Mutation SNP T T A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 14 93537274 93537274 T A SNP C14orf48 ENST00000359253 human ensembl 54_36p +1 known missense c.209 p.V70E 0.000 NULL NULL - no_errors HPS1 3257 genome.wustl.edu 36 10 100179390 100179390 + Splice_Site SNP C T T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 10 100179390 100179390 C T SNP HPS1 NM_000195 human genbank 54_36p -1 reviewed splice_site c.868-1 e8-1 1.000 - - - no_errors MUC17 140453 genome.wustl.edu 36 7 100470966 100470966 + Silent SNP C C A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 7 100470966 100470966 C A SNP MUC17 NM_001040105 human genbank 54_36p +1 provisional silent c.9549 p.T3183 0.002 NULL superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors STAB2 55576 genome.wustl.edu 36 12 102555941 102555941 + Nonsense_Mutation SNP C C T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 12 102555941 102555941 C T SNP STAB2 NM_017564 human genbank 54_36p +1 reviewed nonsense c.727 p.R243* 0.005 superfamily_SSF57196,HMMSmart_EGF HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_alliinase,superfamily_SSF57196,HMMPfam_EGF,superfamily_BIgH3_FAS1,HMMPfam_Fasciclin,HMMSmart_FAS1,HMMPfam_Laminin_EGF,PatternScan_EGF_LAM_1,superfamily_Grow_fac_recept,HMMPfam_EGF_2,HMMSmart_LINK,HMMPfam_Xlink,superfamily_C-type_lectin_fold,PatternScan_LINK_1 - no_errors BANK1 55024 genome.wustl.edu 36 4 103002743 103002743 + Missense_Mutation SNP T C C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 4 103002743 103002743 T C SNP BANK1 NM_017935 human genbank 54_36p +1 validated missense c.662 p.V221A 0.597 NULL superfamily_Ankyrin repeat - no_errors EXPH5 23086 genome.wustl.edu 36 11 107888976 107888976 + Missense_Mutation SNP G G C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 11 107888976 107888976 G C SNP EXPH5 NM_015065 human genbank 54_36p -1 validated missense c.2468 p.P823R 0.033 NULL NULL - no_errors CHI3L2 1117 genome.wustl.edu 36 1 111574887 111574887 + Missense_Mutation SNP G G T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 1 111574887 111574887 G T SNP CHI3L2 NM_004000 human genbank 54_36p +1 validated missense c.71 p.G24V 0.997 NULL PatternScan_CHITINASE_18,HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat,superfamily_SSF54556 - no_errors TCERG1 10915 genome.wustl.edu 36 5 145852715 145852715 + Missense_Mutation SNP C C T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 5 145852715 145852715 C T SNP TCERG1 NM_006706 human genbank 54_36p +1 reviewed missense c.2152 p.R718C 1.000 superfamily_FF domain superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_FF domain,HMMSmart_SM00441,HMMPfam_FF - no_errors PPARGC1B 133522 genome.wustl.edu 36 5 149192604 149192604 + Missense_Mutation SNP C C A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 5 149192604 149192604 C A SNP PPARGC1B NM_133263 human genbank 54_36p +1 provisional missense c.775 p.P259T 0.110 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors FASTK 10922 genome.wustl.edu 36 7 150405353 150405353 + Missense_Mutation SNP G C C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 7 150405353 150405353 G C SNP FASTK NM_006712 human genbank 54_36p -1 reviewed missense c.1268 p.T423S 0.939 HMMPfam_FAST_2 HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP - no_errors KPRP 448834 genome.wustl.edu 36 1 151000415 151000415 + Missense_Mutation SNP G G A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 1 151000415 151000415 G A SNP KPRP NM_001025231 human genbank 54_36p +1 provisional missense c.1727 p.S576N 0.421 NULL NULL - no_errors MLL3 58508 genome.wustl.edu 36 7 151479507 151479507 + Missense_Mutation SNP C C G novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 7 151479507 151479507 C G SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed missense c.12619 p.G4207R 1.000 NULL PatternScan_HMGI_Y,HMMPfam_AT_hook,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,HMMSmart_SM00184,PatternScan_ZF_PHD_1,PatternScan_ATPASE_ALPHA_BETA,HMMSmart_SM00398,HMMPfam_HMG_box,HMMPfam_FYRN,HMMSmart_SM00541,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508 - no_errors PLCH1 23007 genome.wustl.edu 36 3 156750403 156750403 + Missense_Mutation SNP A T T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 3 156750403 156750403 A T SNP PLCH1 NM_014996 human genbank 54_36p -1 validated missense c.1139 p.I380N 1.000 HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors FAM120B 84498 genome.wustl.edu 36 6 170468537 170468537 + Missense_Mutation SNP C A A novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 6 170468537 170468537 C A SNP FAM120B NM_032448 human genbank 54_36p +1 provisional missense c.134 p.A45D 1.000 superfamily_PIN domain-like superfamily_PIN domain-like,PatternScan_FGGY_KINASES_1 - no_errors RPLP1P4 0 genome.wustl.edu 36 2 176774119 176774119 + Silent SNP A A C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 2 176774119 176774119 A C SNP RPLP1P4 ENST00000405359 human ensembl 54_36p -1 known silent c.108 p.G36 0.025 HMMPfam_Ribosomal_60s HMMPfam_Ribosomal_60s - no_errors IL8RBP 3580 genome.wustl.edu 36 2 218633939 218633939 + RNA SNP A A C novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 2 218633939 218633939 A C SNP IL8RBP NR_002712 human genbank 54_36p -1 provisional rna NULL NULL 0.606 - - - pseudogene MOSC1 64757 genome.wustl.edu 36 1 219037891 219037891 + Missense_Mutation SNP C C T novel unknown TCGA-36-2544-01A-01D-1526-09 TCGA-36-2544-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 43b4cb62-2673-4a89-b008-6f4543187739 7496067e-a6ab-4574-bab3-664e9237011b 1 219037891 219037891 C T SNP MOSC1 NM_022746 human genbank 54_36p +1 validated missense c.665 p.A222V 0.355 superfamily_PK beta-barrel domain-like,HMMPfam_MOSC superfamily_PK beta-barrel domain-like,HMMPfam_MOSC_N,HMMPfam_MOSC - no_errors