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 MT-ND1 4535 genome.wustl.edu 36 MT 3522 3522 + Missense_Mutation SNP T C C novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 MT 3522 3522 T C SNP MT-ND1 ENST00000361390 human ensembl 54_36p +1 known missense c.215 p.I72T NULL HMMPfam_NADHdh HMMPfam_NADHdh,PatternScan_COMPLEX1_ND1_1,PatternScan_COMPLEX1_ND1_2 - no_errors ENSG00000216522 0 genome.wustl.edu 36 NT_113923 90129 90129 + Missense_Mutation SNP G A A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 NT_113923 90129 90129 G A SNP ENSG00000216522 ENST00000402757 human ensembl 54_36p -1 known missense c.680 p.A227V NULL HMMPfam_G_glu_transpept HMMPfam_G_glu_transpept,PatternScan_G_GLU_TRANSPEPTIDASE - no_errors DOCK8 81704 genome.wustl.edu 36 9 453585 453585 + Missense_Mutation SNP T T A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 9 453585 453585 T A SNP DOCK8 NM_203447 human genbank 54_36p +1 validated missense c.5933 p.L1978H 1.000 HMMPfam_Ded_cyto HMMPfam_Ded_cyto - no_errors PHRF1 57661 genome.wustl.edu 36 11 582610 582610 + Missense_Mutation SNP T T A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 11 582610 582610 T A SNP PHRF1 NM_020901 human genbank 54_36p +1 validated missense c.556 p.C186S 1.000 PatternScan_ZF_PHD_1,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,HMMSmart_SM00184 superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,PatternScan_ZF_PHD_1,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD - no_errors MYT1L 23040 genome.wustl.edu 36 2 1905815 1905815 + Silent SNP G G T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 2 1905815 1905815 G T SNP MYT1L NM_015025 human genbank 54_36p -1 validated silent c.733 p.R245 1.000 NULL superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1,PatternScan_EF_HAND_1 - no_errors CNTN4 152330 genome.wustl.edu 36 3 3042877 3042877 + Silent SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 3 3042877 3042877 G A SNP CNTN4 NM_175607 human genbank 54_36p +1 reviewed silent c.1578 p.S526 0.957 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors C19orf28 126321 genome.wustl.edu 36 19 3493790 3493790 + Missense_Mutation SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 19 3493790 3493790 C T SNP C19orf28 NM_021731 human genbank 54_36p -1 validated missense c.1606 p.G536R 0.009 NULL superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 - no_errors CREBBP 1387 genome.wustl.edu 36 16 3729579 3729579 + Splice_Site SNP C C A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 16 3729579 3729579 C A SNP CREBBP NM_004380 human genbank 54_36p -1 reviewed splice_site c.4280+1 e25+1 1.000 - - - no_errors RPS12P29 0 genome.wustl.edu 36 17 4554979 4554979 + Splice_Site SNP T T A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 17 4554979 4554979 T A SNP RPS12P29 ENST00000396944 human ensembl 54_36p -1 known splice_site c.NULL NULL 1.000 - - - no_coding_region:pseudogene EPB41L3 23136 genome.wustl.edu 36 18 5405927 5405927 + Missense_Mutation SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 18 5405927 5405927 C T SNP EPB41L3 NM_012307 human genbank 54_36p -1 provisional missense c.1957 p.A653T 1.000 NULL HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA,HMMPfam_SAB,HMMPfam_4_1_CTD - no_errors LOC641922 641922 genome.wustl.edu 36 7 6873532 6873532 + RNA SNP A A G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 7 6873532 6873532 A G SNP LOC641922 XR_037560 human genbank 54_36p -1 model rna NULL NULL 0.112 - - - pseudogene LOC100129476 0 genome.wustl.edu 36 1 7032639 7032639 + Missense_Mutation SNP G A A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 1 7032639 7032639 G A SNP LOC100129476 XM_001718470 human genbank 54_36p -1 model missense c.442 p.H148Y 0.004 NULL NULL - no_errors TP53 7157 genome.wustl.edu 36 17 7518997 7518997 + Missense_Mutation SNP G A A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 17 7518997 7518997 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.577 p.H193Y 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors LOC392285 392285 genome.wustl.edu 36 9 7588226 7588226 + RNA SNP A A G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 9 7588226 7588226 A G SNP LOC392285 XR_017134 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene C17orf68 80169 genome.wustl.edu 36 17 8078862 8078862 + Missense_Mutation SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 17 8078862 8078862 G A SNP C17orf68 NM_025099 human genbank 54_36p -1 validated missense c.1547 p.P516L 0.060 NULL NULL - no_errors MUC16 94025 genome.wustl.edu 36 19 8930560 8930560 + Silent SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 19 8930560 8930560 G A SNP MUC16 NM_024690 human genbank 54_36p -1 validated silent c.17886 p.T5962 0.000 NULL PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors ENSG00000183704 0 genome.wustl.edu 36 Y 11960754 11960754 + Missense_Mutation SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 Y 11960754 11960754 C T SNP ENSG00000183704 ENST00000331172 human ensembl 54_36p -1 known missense c.523 p.A175T 0.095 NULL NULL - no_stop_codon LOC388514 388514 genome.wustl.edu 36 19 15742932 15742932 + RNA SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 19 15742932 15742932 G A SNP LOC388514 XR_017598 human genbank 54_36p -1 model rna NULL NULL 0.924 - - - no_errors UNC13A 23025 genome.wustl.edu 36 19 17614742 17614742 + Missense_Mutation SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 19 17614742 17614742 G A SNP UNC13A NM_001080421 human genbank 54_36p -1 provisional missense c.2648 p.S883L 0.996 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD - no_errors KIF13A 63971 genome.wustl.edu 36 6 17869080 17869080 + Missense_Mutation SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 6 17869080 17869080 G A SNP KIF13A NM_001105568 human genbank 54_36p -1 validated missense c.5237 p.T1746I 0.000 NULL HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD_FHA,HMMSmart_FHA,HMMPfam_FHA - no_errors FAM10A5 0 genome.wustl.edu 36 11 18240413 18240413 + Missense_Mutation SNP T T G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 11 18240413 18240413 T G SNP FAM10A5 ENST00000391478 human ensembl 54_36p +1 known missense c.309 p.N103K 0.997 NULL superfamily_SSF48452,HMMSmart_TPR,HMMPfam_TPR_1,HMMSmart_STI1 - no_errors SMG1 23049 genome.wustl.edu 36 16 18788085 18788085 + Missense_Mutation SNP C C G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 16 18788085 18788085 C G SNP SMG1 NM_015092 human genbank 54_36p -1 reviewed missense c.2675 p.R892T 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC - no_errors NAV2 89797 genome.wustl.edu 36 11 20034080 20034080 + Splice_Site SNP G G T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 11 20034080 20034080 G T SNP NAV2 NM_182964 human genbank 54_36p +1 validated splice_site c.4900+1 e20+1 1.000 - - - no_errors DNAJC1 64215 genome.wustl.edu 36 10 22088517 22088517 + Missense_Mutation SNP T T C novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 10 22088517 22088517 T C SNP DNAJC1 NM_022365 human genbank 54_36p -1 provisional missense c.1184 p.Q395R 0.035 NULL superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ,PatternScan_DNAJ_1,HMMSmart_SANT,HMMPfam_Myb_DNA-binding,superfamily_Homeodomain_like - no_errors AP1G2 8906 genome.wustl.edu 36 14 23102437 23102437 + Missense_Mutation SNP T T A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 14 23102437 23102437 T A SNP AP1G2 NM_003917 human genbank 54_36p -1 reviewed missense c.1402 p.I468F 1.000 superfamily_ARM-type_fold,HMMPfam_Adaptin_N superfamily_ARM-type_fold,HMMPfam_Adaptin_N,superfamily_Clath_adapt,HMMPfam_Alpha_adaptinC2,HMMSmart_Alpha_adaptinC2 - no_errors GZF1 64412 genome.wustl.edu 36 20 23298227 23298227 + Missense_Mutation SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 20 23298227 23298227 G A SNP GZF1 NM_022482 human genbank 54_36p +1 validated missense c.1634 p.R545H 1.000 superfamily_C2H2 and C2HC zinc fingers superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors PLK1 5347 genome.wustl.edu 36 16 23600948 23600948 + Missense_Mutation SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 16 23600948 23600948 G A SNP PLK1 NM_005030 human genbank 54_36p +1 provisional missense c.785 p.R262Q 1.000 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SSF82615,HMMPfam_POLO_box - no_errors ANKRD26 22852 genome.wustl.edu 36 10 27429070 27429070 + Silent SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 10 27429070 27429070 C T SNP ANKRD26 NM_014915 human genbank 54_36p -1 validated silent c.192 p.Q64 0.000 superfamily_ANK superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors APOB48R 55911 genome.wustl.edu 36 16 28416951 28416951 + Missense_Mutation SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 16 28416951 28416951 G A SNP APOB48R NM_018690 human genbank 54_36p +1 reviewed missense c.2974 p.V992M 0.417 NULL NULL - no_errors ATP2A1 487 genome.wustl.edu 36 16 28820705 28820705 + Silent SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 16 28820705 28820705 C T SNP ATP2A1 NM_173201 human genbank 54_36p +1 reviewed silent c.2121 p.D707 1.000 superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Hydrolase,superfamily_HAD-like superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Hydrolase,superfamily_HAD-like,HMMPfam_Cation_ATPase_C - no_errors C7orf41 222166 genome.wustl.edu 36 7 30163615 30163615 + Missense_Mutation SNP G G C novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 7 30163615 30163615 G C SNP C7orf41 NM_152793 human genbank 54_36p +1 validated missense c.322 p.E108Q 1.000 NULL NULL - no_errors LOC647157 647157 genome.wustl.edu 36 16 32310971 32310971 + RNA SNP T T A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 16 32310971 32310971 T A SNP LOC647157 XR_017478 human genbank 54_36p +1 model rna NULL NULL 0.998 - - - pseudogene FUT10 84750 genome.wustl.edu 36 8 33366528 33366528 + Missense_Mutation SNP G A A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 8 33366528 33366528 G A SNP FUT10 NM_032664 human genbank 54_36p -1 validated missense c.707 p.T236I 0.445 HMMPfam_Glyco_transf_10 HMMPfam_Glyco_transf_10 - no_errors KRTAP4-5 85289 genome.wustl.edu 36 17 36559437 36559437 + Missense_Mutation SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 17 36559437 36559437 G A SNP KRTAP4-5 NM_033188 human genbank 54_36p -1 reviewed missense c.109 p.R37C 0.934 HMMPfam_Keratin_B2 HMMPfam_Keratin_B2,PatternScan_TNFR_NGFR_1 - no_errors TRPC4 7223 genome.wustl.edu 36 13 37109459 37109459 + Missense_Mutation SNP C C A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 13 37109459 37109459 C A SNP TRPC4 NM_016179 human genbank 54_36p -1 validated missense c.2515 p.V839L 0.938 NULL superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,HMMPfam_TRP_2,HMMPfam_Ion_trans,PatternScan_RIBOSOMAL_S2_1 - no_errors TRGV5 0 genome.wustl.edu 36 7 38355780 38355780 + Missense_Mutation SNP A A T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 7 38355780 38355780 A T SNP TRGV5 ENST00000390344 human ensembl 54_36p -1 known missense c.55 p.S19T 0.005 HMMPfam_V-set HMMPfam_V-set,superfamily_Immunoglobulin - no_stop_codon TRGV3 0 genome.wustl.edu 36 7 38364937 38364937 + Missense_Mutation SNP A A T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 7 38364937 38364937 A T SNP TRGV3 ENST00000390346 human ensembl 54_36p -1 known missense c.55 p.S19T 0.017 HMMPfam_V-set HMMPfam_V-set,superfamily_Immunoglobulin - no_stop_codon SCN11A 11280 genome.wustl.edu 36 3 38867073 38867073 + Silent SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 3 38867073 38867073 C T SNP SCN11A NM_014139 human genbank 54_36p -1 validated silent c.4230 p.T1410 0.007 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc - no_errors ETV4 2118 genome.wustl.edu 36 17 38966108 38966108 + Missense_Mutation SNP G T T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 17 38966108 38966108 G T SNP ETV4 NM_001079675 human genbank 54_36p -1 validated missense c.518 p.P173H 0.985 HMMPfam_ETS_PEA3_N HMMPfam_ETS_PEA3_N,superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2 - no_errors uc002rsf.1 0 genome.wustl.edu 36 2 42034673 42034673 + Missense_Mutation SNP T A A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 2 42034673 42034673 T A SNP uc002rsf.1 ENST00000403980 human ensembl 54_36p -1 known missense c.88 p.T30S 0.001 NULL NULL - no_errors HHATL 57467 genome.wustl.edu 36 3 42714830 42714830 + Silent SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 3 42714830 42714830 G A SNP HHATL NM_020707 human genbank 54_36p -1 provisional silent c.501 p.G167 0.998 NULL HMMPfam_MBOAT - no_errors CCR2 1231 genome.wustl.edu 36 3 46374724 46374724 + Silent SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 3 46374724 46374724 C T SNP CCR2 ENST00000292301 human ensembl 54_36p +1 known silent c.702 p.N234 0.421 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors TDRD6 221400 genome.wustl.edu 36 6 46766347 46766347 + Missense_Mutation SNP A A G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 6 46766347 46766347 A G SNP TDRD6 NM_001010870 human genbank 54_36p +1 provisional missense c.2523 p.I841M 0.000 HMMPfam_TUDOR,superfamily_SSF63748,HMMSmart_TUDOR HMMSmart_TUDOR,HMMPfam_TUDOR,superfamily_SSF63748 - no_errors ZNF574 64763 genome.wustl.edu 36 19 47276807 47276807 + Missense_Mutation SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 19 47276807 47276807 G A SNP ZNF574 NM_022752 human genbank 54_36p +1 validated missense c.2209 p.G737S 0.938 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors RB1 5925 genome.wustl.edu 36 13 47845630 47845630 + Splice_Site SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 13 47845630 47845630 G A SNP RB1 NM_000321 human genbank 54_36p +1 reviewed splice_site c.1215+1 e12+1 1.000 - - - no_errors KIAA0146 23514 genome.wustl.edu 36 8 48670949 48670949 + Missense_Mutation SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 8 48670949 48670949 G A SNP KIAA0146 NM_001080394 human genbank 54_36p +1 predicted missense c.1121 p.G374E 0.612 NULL NULL - no_errors QARS 5859 genome.wustl.edu 36 3 49115789 49115789 + Missense_Mutation SNP T T C novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 3 49115789 49115789 T C SNP QARS NM_005051 human genbank 54_36p -1 reviewed missense c.509 p.D170G 1.000 HMMPfam_tRNA_synt_1c_R2 HMMPfam_tRNA_synt_1c_R1,HMMPfam_tRNA_synt_1c_R2,superfamily_SSF52374,HMMPfam_tRNA-synt_1c,PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1c_C,superfamily_Ribosomal_L25rel - no_errors FAM120C 54954 genome.wustl.edu 36 X 54159755 54159755 + Missense_Mutation SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 X 54159755 54159755 G A SNP FAM120C NM_017848 human genbank 54_36p -1 validated missense c.2260 p.L754F 1.000 NULL NULL - no_errors CACNA2D3 55799 genome.wustl.edu 36 3 54761702 54761702 + Missense_Mutation SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 3 54761702 54761702 G A SNP CACNA2D3 NM_018398 human genbank 54_36p +1 reviewed missense c.1204 p.A402T 1.000 superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA HMMPfam_VWA_N,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Cache_1 - no_errors OR4A16 81327 genome.wustl.edu 36 11 54867309 54867309 + Silent SNP T T G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 11 54867309 54867309 T G SNP OR4A16 NM_001005274 human genbank 54_36p +1 provisional silent c.57 p.P19 0.000 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors DST 667 genome.wustl.edu 36 6 56588702 56588702 + Silent SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 6 56588702 56588702 G A SNP DST NM_001723 human genbank 54_36p -1 reviewed silent c.7522 p.L2508 0.953 superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin - no_errors FAM111A 63901 genome.wustl.edu 36 11 58676660 58676660 + Missense_Mutation SNP A A C novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 11 58676660 58676660 A C SNP FAM111A NM_022074 human genbank 54_36p +1 validated missense c.943 p.K315Q 0.002 NULL superfamily_Pept_Ser_Cys - no_errors DNAJC6 9829 genome.wustl.edu 36 1 65644380 65644380 + Missense_Mutation SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 1 65644380 65644380 C T SNP DNAJC6 NM_014787 human genbank 54_36p +1 validated missense c.2296 p.R766C 0.977 NULL superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ - no_errors NFU1 27247 genome.wustl.edu 36 2 69481069 69481069 + Missense_Mutation SNP G G C novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 2 69481069 69481069 G C SNP NFU1 NM_001002755 human genbank 54_36p -1 validated missense c.651 p.I217M 1.000 HMMPfam_NifU superfamily_NIF_FeS_clus_asmbl_NifU-like_N,HMMPfam_Nfu_N,HMMPfam_NifU - no_errors LMBRD1 55788 genome.wustl.edu 36 6 70467397 70467397 + Missense_Mutation SNP A A G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 6 70467397 70467397 A G SNP LMBRD1 NM_018368 human genbank 54_36p -1 provisional missense c.1169 p.I390T 1.000 HMMPfam_LMBR1 HMMPfam_LMBR1 - no_errors FAM135A 57579 genome.wustl.edu 36 6 71294813 71294813 + Missense_Mutation SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 6 71294813 71294813 G A SNP FAM135A NM_001105531 human genbank 54_36p +1 validated missense c.3124 p.V1042I 0.992 NULL superfamily_SSF53474,HMMPfam_DUF676 - no_errors PTCD2 79810 genome.wustl.edu 36 5 71652077 71652077 + Missense_Mutation SNP C C G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 5 71652077 71652077 C G SNP PTCD2 NM_024754 human genbank 54_36p +1 validated missense c.112 p.R38G 0.924 NULL HMMPfam_PPR - no_errors TTC18 118491 genome.wustl.edu 36 10 74777947 74777947 + Silent SNP G G C novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 10 74777947 74777947 G C SNP TTC18 NM_145170 human genbank 54_36p -1 provisional silent c.402 p.P134 0.951 NULL HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1 - no_errors KRT18P30 643858 genome.wustl.edu 36 6 86053509 86053509 + RNA SNP G G T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 6 86053509 86053509 G T SNP KRT18P30 XR_042318 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene CNBD1 168975 genome.wustl.edu 36 8 88433124 88433124 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 8 88433124 88433124 C T SNP CNBD1 NM_173538 human genbank 54_36p +1 provisional nonsense c.1138 p.R380* 0.000 superfamily_cNMP_binding,HMMPfam_cNMP_binding PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,HMMPfam_cNMP_binding - no_errors CDK6 1021 genome.wustl.edu 36 7 92138735 92138735 + Silent SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 7 92138735 92138735 G A SNP CDK6 NM_001259 human genbank 54_36p -1 validated silent c.588 p.Y196 0.978 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors UGCGL2 55757 genome.wustl.edu 36 13 95283233 95283233 + Missense_Mutation SNP C T T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 13 95283233 95283233 C T SNP UGCGL2 NM_020121 human genbank 54_36p -1 provisional missense c.4477 p.A1493T 0.990 superfamily_Nucleotide-diphospho-sugar transferases HMMPfam_UDP-g_GGTase,superfamily_Nucleotide-diphospho-sugar transferases - no_errors PCDH19 57526 genome.wustl.edu 36 X 99438439 99438439 + Missense_Mutation SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 X 99438439 99438439 C T SNP PCDH19 NM_001105243 human genbank 54_36p -1 validated missense c.2798 p.R933H 0.998 NULL HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors VPS13B 157680 genome.wustl.edu 36 8 100917121 100917121 + Silent SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 8 100917121 100917121 C T SNP VPS13B NM_017890 human genbank 54_36p +1 reviewed silent c.9996 p.D3332 1.000 NULL PatternScan_ZINC_PROTEASE - no_errors RGS22 26166 genome.wustl.edu 36 8 101063380 101063380 + Missense_Mutation SNP G G C novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 8 101063380 101063380 G C SNP RGS22 NM_015668 human genbank 54_36p -1 validated missense c.3321 p.H1107Q 0.989 superfamily_Regulator of G-protein signaling RGS,HMMSmart_SM00315,HMMPfam_RGS superfamily_Regulator of G-protein signaling RGS,HMMSmart_SM00315,HMMPfam_RGS - no_errors CENPE 1062 genome.wustl.edu 36 4 104255106 104255106 + Silent SNP A A G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 4 104255106 104255106 A G SNP CENPE NM_001813 human genbank 54_36p -1 validated silent c.7495 p.L2499 0.016 NULL HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,PatternScan_AA_TRNA_LIGASE_I - no_errors LOC100129138 0 genome.wustl.edu 36 1 104417602 104417602 + RNA SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 1 104417602 104417602 C T SNP LOC100129138 XR_036957 human genbank 54_36p +1 model rna NULL NULL 0.000 - - - no_errors RIMS2 9699 genome.wustl.edu 36 8 104901005 104901005 + Missense_Mutation SNP C C A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 8 104901005 104901005 C A SNP RIMS2 NM_014677 human genbank 54_36p +1 validated missense c.94 p.L32I 1.000 NULL superfamily_PDZ domain-like,HMMSmart_SM00228,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors LOC126987 126987 genome.wustl.edu 36 1 106425168 106425168 + RNA SNP C C A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 1 106425168 106425168 C A SNP LOC126987 XR_016153 human genbank 54_36p -1 model rna NULL NULL 0.033 - - - no_errors FLJ20184 54848 genome.wustl.edu 36 4 106754107 106754107 + Missense_Mutation SNP G G T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 4 106754107 106754107 G T SNP FLJ20184 NM_017700 human genbank 54_36p +1 predicted missense c.502 p.V168L 1.000 superfamily_DH-domain,HMMPfam_RhoGEF PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF - no_errors XPNPEP1 7511 genome.wustl.edu 36 10 111637889 111637889 + Missense_Mutation SNP A A C novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 10 111637889 111637889 A C SNP XPNPEP1 NM_020383 human genbank 54_36p -1 provisional missense c.431 p.I144S 1.000 NULL HMMPfam_Creatinase_N,superfamily_Creatinase/aminopeptidase,HMMPfam_Peptidase_M24,PatternScan_PROLINE_PEPTIDASE - no_errors HSDL2 84263 genome.wustl.edu 36 9 114256209 114256209 + Missense_Mutation SNP C C G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 9 114256209 114256209 C G SNP HSDL2 NM_032303 human genbank 54_36p +1 provisional missense c.961 p.L321V 0.988 superfamily_Sterol carrier protein SCP,HMMPfam_SCP2 superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_Sterol carrier protein SCP,HMMPfam_SCP2 - no_errors FAT4 79633 genome.wustl.edu 36 4 126631810 126631810 + Missense_Mutation SNP C C G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 4 126631810 126631810 C G SNP FAT4 NM_024582 human genbank 54_36p +1 validated missense c.14212 p.L4738V 1.000 NULL superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_EGF - no_errors METTL11A 28989 genome.wustl.edu 36 9 131437381 131437381 + Missense_Mutation SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 9 131437381 131437381 C T SNP METTL11A ENST00000372481 human ensembl 54_36p +1 known missense c.404 p.S135L 0.952 HMMPfam_DUF858 HMMPfam_DUF858,superfamily_SSF53335 - no_errors NRG2 9542 genome.wustl.edu 36 5 139247123 139247123 + Missense_Mutation SNP T T A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 5 139247123 139247123 T A SNP NRG2 NM_013982 human genbank 54_36p -1 reviewed missense c.858 p.K286N 1.000 superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2 superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_Neuregulin - no_errors MOXD2 642128 genome.wustl.edu 36 7 141590402 141590402 + Missense_Mutation SNP G A A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 7 141590402 141590402 G A SNP MOXD2 ENST00000389113 human ensembl 54_36p -1 known missense c.737 p.T246M 0.912 HMMPfam_Cu2_monooxygen,superfamily_PHM/PNGase F HMMSmart_SM00664,HMMPfam_DOMON,HMMPfam_Cu2_monooxygen,superfamily_PHM/PNGase F,HMMPfam_Cu2_monoox_C - no_start_codon:no_stop_codon UTRN 7402 genome.wustl.edu 36 6 144801580 144801580 + Silent SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 6 144801580 144801580 C T SNP UTRN NM_007124 human genbank 54_36p +1 reviewed silent c.1248 p.H416 0.991 HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_SSF47473,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1 - no_errors ARSI 340075 genome.wustl.edu 36 5 149657546 149657546 + Silent SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 5 149657546 149657546 G A SNP ARSI NM_001012301 human genbank 54_36p -1 validated silent c.1134 p.S378 0.965 HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2 - no_errors HRNR 388697 genome.wustl.edu 36 1 150460466 150460466 + Missense_Mutation SNP A A T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 1 150460466 150460466 A T SNP HRNR NM_001009931 human genbank 54_36p -1 validated missense c.263 p.I88N 0.099 superfamily_SSF47473 superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK - no_errors ABCF2 10061 genome.wustl.edu 36 7 150551992 150551992 + Missense_Mutation SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 7 150551992 150551992 G A SNP ABCF2 NM_005692 human genbank 54_36p -1 reviewed missense c.509 p.A170V 1.000 superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors GALNT13 114805 genome.wustl.edu 36 2 154806880 154806880 + Missense_Mutation SNP G G T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 2 154806880 154806880 G T SNP GALNT13 NM_052917 human genbank 54_36p +1 validated missense c.403 p.V135F 1.000 superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2 superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin - no_errors SPTA1 6708 genome.wustl.edu 36 1 156888965 156888965 + Missense_Mutation SNP C C G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 1 156888965 156888965 C G SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed missense c.3291 p.W1097C 1.000 HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_EF-hand,HMMPfam_efhand_Ca_insen - no_errors USP21 27005 genome.wustl.edu 36 1 159401031 159401031 + Missense_Mutation SNP C C G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 1 159401031 159401031 C G SNP USP21 ENST00000289865 human ensembl 54_36p +1 known missense c.1389 p.I463M 1.000 superfamily_Cysteine proteinases,HMMPfam_UCH superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors SELP 6403 genome.wustl.edu 36 1 167838916 167838916 + Silent SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 1 167838916 167838916 G A SNP SELP NM_003005 human genbank 54_36p -1 reviewed silent c.1677 p.R559 0.932 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors STC2 8614 genome.wustl.edu 36 5 172683024 172683024 + Missense_Mutation SNP T T C novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 5 172683024 172683024 T C SNP STC2 NM_003714 human genbank 54_36p -1 reviewed missense c.310 p.K104E 1.000 HMMPfam_Stanniocalcin HMMPfam_Stanniocalcin - no_errors CFH 3075 genome.wustl.edu 36 1 194976488 194976488 + Missense_Mutation SNP G G T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 1 194976488 194976488 G T SNP CFH NM_000186 human genbank 54_36p +1 reviewed missense c.2899 p.G967W 0.827 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors SLC26A9 115019 genome.wustl.edu 36 1 204163656 204163656 + Silent SNP G G A novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 1 204163656 204163656 G A SNP SLC26A9 NM_134325 human genbank 54_36p -1 reviewed silent c.1098 p.N366 1.000 HMMPfam_Sulfate_transp HMMPfam_Sulfate_transp,superfamily_STAS,HMMPfam_STAS - no_errors MDH1B 130752 genome.wustl.edu 36 2 207330261 207330261 + Missense_Mutation SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 2 207330261 207330261 C T SNP MDH1B NM_001039845 human genbank 54_36p -1 validated missense c.215 p.R72H 1.000 NULL superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_LDH C-terminal domain-like - no_errors SUSD4 55061 genome.wustl.edu 36 1 221508620 221508620 + Missense_Mutation SNP C C T novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 1 221508620 221508620 C T SNP SUSD4 NM_017982 human genbank 54_36p -1 validated missense c.382 p.E128K 0.983 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors SUSD4 55061 genome.wustl.edu 36 1 221532603 221532603 + Silent SNP A A G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 1 221532603 221532603 A G SNP SUSD4 NM_017982 human genbank 54_36p -1 validated silent c.162 p.L54 0.011 superfamily_Complement control module/SCR domain HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain - no_errors CDC42BPA 8476 genome.wustl.edu 36 1 225328337 225328337 + Splice_Site SNP C C G novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 1 225328337 225328337 C G SNP CDC42BPA NM_003607 human genbank 54_36p -1 reviewed splice_site c.2587-1 e19-1 1.000 - - - no_errors PLEKHA7 144100 genome.wustl.edu 36 11 16779797 16779798 + Frame_Shift_Del DEL CT CT - novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 CT CT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 11 16779797 16779798 CT - DEL PLEKHA7 NM_175058 human genbank 54_36p -1 provisional frame_shift_del c.2301_2300 p.E767fs 0.966:1.000 NULL superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 (deletion:cds_exon[16779791,16779940]) no_errors RAB11FIP5 26056 genome.wustl.edu 36 2 73161732 73161737 + In_Frame_Del DEL TCCTCC TCCTCC - novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 TCCTCC TCCTCC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 2 73161732 73161737 TCCTCC - DEL RAB11FIP5 ENST00000389508 human ensembl 54_36p -1 known in_frame_del c.2142_2137 p.GG713in_frame_del 0.207:0.212:0.205:0.113:0.056:0.011 NULL PatternScan_ENOYL_COA_HYDRATASE,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_RBD-FIP (deletion:cds_exon[73160287,73162299]) no_start_codon TRIML1 339976 genome.wustl.edu 36 4 189305432 189305432 + Frame_Shift_Del DEL C C - novel unknown TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 46e36fef-5bf6-467c-983d-2fc7396297a1 f13cee08-0d13-4bad-812c-cf44de94e731 4 189305432 189305432 C - DEL TRIML1 NM_178556 human genbank 54_36p +1 provisional frame_shift_del c.1319 p.L441fs 0.003 HMMPfam_SPRY,HMMSmart_SPRY superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY (deletion:cds_exon[189304970,189305520]) no_errors