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 3771 3771 + Missense_Mutation SNP T T C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 MT 3771 3771 T C SNP MT-ND1 ENST00000361390 human ensembl 54_36p +1 known missense c.464 p.L155P NULL HMMPfam_NADHdh HMMPfam_NADHdh,PatternScan_COMPLEX1_ND1_1,PatternScan_COMPLEX1_ND1_2 - no_errors ENSG00000210151 0 genome.wustl.edu 36 MT 7487 7487 + RNA SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 MT 7487 7487 G A SNP ENSG00000210151 ENST00000387416 human ensembl 54_36p -1 novel rna NULL NULL NULL - - - no_errors MT-ND4 4538 genome.wustl.edu 36 MT 11494 11494 + Missense_Mutation SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 MT 11494 11494 G A SNP MT-ND4 ENST00000361381 human ensembl 54_36p +1 known missense c.734 p.R245H NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1 - no_stop_codon:bad_bp_length_for_coding_region MT-CYB 4519 genome.wustl.edu 36 MT 15310 15310 + Missense_Mutation SNP T T C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 MT 15310 15310 T C SNP MT-CYB ENST00000361789 human ensembl 54_36p +1 known missense c.563 p.I188T NULL superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N,HMMPfam_Cytochrom_B_C,superfamily_Cytochrome_b/b6_C - no_stop_codon:bad_bp_length_for_coding_region WNK1 65125 genome.wustl.edu 36 12 876048 876048 + Missense_Mutation SNP A A C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 12 876048 876048 A C SNP WNK1 NM_018979 human genbank 54_36p +1 validated missense c.6134 p.N2045T 0.508 NULL superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST - no_errors IRX2 153572 genome.wustl.edu 36 5 2802663 2802663 + Missense_Mutation SNP G T T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 5 2802663 2802663 G T SNP IRX2 NM_033267 human genbank 54_36p -1 validated missense c.488 p.T163N 1.000 superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMSmart_IRO - no_errors FAM90A20 728430 genome.wustl.edu 36 8 7142884 7142884 + Silent SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 8 7142884 7142884 C T SNP FAM90A20 XM_001128051 human genbank 54_36p +1 model silent c.1323 p.V441 0.002 NULL NULL - no_errors ANKRD12 23253 genome.wustl.edu 36 18 9244628 9244628 + Missense_Mutation SNP C C G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 18 9244628 9244628 C G SNP ANKRD12 NM_015208 human genbank 54_36p +1 validated missense c.1363 p.Q455E 0.963 superfamily_Ankyrin repeat superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors TYK2 7297 genome.wustl.edu 36 19 10333497 10333497 + Missense_Mutation SNP C C G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 19 10333497 10333497 C G SNP TYK2 NM_003331 human genbank 54_36p -1 reviewed missense c.1908 p.E636D 0.883 superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc PatternScan_FERM_1,PatternScan_FERM_2,HMMSmart_B41,superfamily_SSF55550,HMMSmart_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors FRAP1 2475 genome.wustl.edu 36 1 11139884 11139884 + Missense_Mutation SNP C A A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 11139884 11139884 C A SNP FRAP1 NM_004958 human genbank 54_36p -1 reviewed missense c.4381 p.V1461L 0.820 superfamily_ARM-type_fold,superfamily_SSF48452 superfamily_ARM-type_fold,superfamily_SSF48452,HMMPfam_FAT,HMMPfam_Rapamycin_bind,superfamily_FRAP_FKBP12_bind,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC - no_errors NMT2 9397 genome.wustl.edu 36 10 15215318 15215318 + Missense_Mutation SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 10 15215318 15215318 G A SNP NMT2 NM_004808 human genbank 54_36p -1 reviewed missense c.442 p.R148C 0.964 superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_NMT superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_NMT,PatternScan_NMT_1,HMMPfam_NMT_C,PatternScan_NMT_2 - no_errors SPEN 23013 genome.wustl.edu 36 1 16133384 16133384 + Missense_Mutation SNP G A A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 16133384 16133384 G A SNP SPEN NM_015001 human genbank 54_36p +1 reviewed missense c.8062 p.G2688R 0.567 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SPOC-like,HMMPfam_SPOC - no_errors CTAGE1 64693 genome.wustl.edu 36 18 18249757 18249757 + Missense_Mutation SNP C C A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 18 18249757 18249757 C A SNP CTAGE1 NM_172241 human genbank 54_36p -1 validated missense c.2016 p.L672F 0.001 NULL NULL - no_errors NCAN 1463 genome.wustl.edu 36 19 19199174 19199174 + Missense_Mutation SNP C G G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 19 19199174 19199174 C G SNP NCAN NM_004386 human genbank 54_36p +1 validated missense c.1745 p.A582G 0.000 NULL superfamily_SSF48726,HMMSmart_IG,superfamily_C-type_lectin_fold,HMMSmart_LINK,HMMPfam_Xlink,PatternScan_LINK_1,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_CLECT,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP - no_errors LAMA3 3909 genome.wustl.edu 36 18 19653903 19653903 + Missense_Mutation SNP C C G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 18 19653903 19653903 C G SNP LAMA3 NM_198129 human genbank 54_36p +1 reviewed missense c.2248 p.P750A 1.000 NULL HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMSmart_SM00281,HMMPfam_Laminin_B,PatternScan_EGF_2,HMMPfam_Laminin_I,HMMPfam_Laminin_II,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_CHAPERONINS_CPN60 - no_errors MGC87895 644068 genome.wustl.edu 36 1 19807432 19807432 + Missense_Mutation SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 19807432 19807432 G A SNP MGC87895 XM_930106 human genbank 54_36p +1 model missense c.238 p.D80N 1.000 superfamily_Translational machinery components,HMMPfam_Ribosomal_S11 superfamily_Translational machinery components,HMMPfam_Ribosomal_S11,PatternScan_RIBOSOMAL_S11 - pseudogene MLLT10 8028 genome.wustl.edu 36 10 22063056 22063056 + Silent SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 10 22063056 22063056 G A SNP MLLT10 NM_004641 human genbank 54_36p +1 validated silent c.2898 p.L966 0.879 NULL superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1 - no_errors RPP21 79897 genome.wustl.edu 36 6 30422202 30422202 + Missense_Mutation SNP C C G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 6 30422202 30422202 C G SNP RPP21 NM_024839 human genbank 54_36p +1 provisional missense c.256 p.R86G 1.000 HMMPfam_Rpr2 HMMPfam_Rpr2 - no_errors KIAA1949 170954 genome.wustl.edu 36 6 30761298 30761298 + Silent SNP G G T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 6 30761298 30761298 G T SNP KIAA1949 NM_133471 human genbank 54_36p -1 validated silent c.477 p.A159 0.001 NULL NULL - no_errors SETD1A 9739 genome.wustl.edu 36 16 30882376 30882376 + Silent SNP G G C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 16 30882376 30882376 G C SNP SETD1A NM_014712 human genbank 54_36p +1 provisional silent c.639 p.T213 1.000 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SSF82199,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET - no_errors ITGAM 3684 genome.wustl.edu 36 16 31216348 31216348 + Missense_Mutation SNP T T C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 16 31216348 31216348 T C SNP ITGAM NM_000632 human genbank 54_36p +1 reviewed missense c.1369 p.F457L 1.000 superfamily_SSF69318,HMMSmart_Int_alpha,HMMPfam_FG-GAP superfamily_SSF69318,HMMSmart_Int_alpha,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors STT3B 201595 genome.wustl.edu 36 3 31649587 31649587 + Missense_Mutation SNP G G C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 3 31649587 31649587 G C SNP STT3B NM_178862 human genbank 54_36p +1 provisional missense c.2344 p.D782H 1.000 NULL HMMPfam_STT3 - no_errors CTNNBL1 56259 genome.wustl.edu 36 20 35921759 35921759 + Missense_Mutation SNP G G C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 20 35921759 35921759 G C SNP CTNNBL1 NM_030877 human genbank 54_36p +1 reviewed missense c.1437 p.E479D 0.874 superfamily_ARM repeat HMMPfam_DUF1716,superfamily_ARM repeat - no_errors BAIAP2L2 80115 genome.wustl.edu 36 22 36823059 36823059 + Missense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 22 36823059 36823059 C T SNP BAIAP2L2 NM_025045 human genbank 54_36p -1 validated missense c.538 p.E180K 1.000 HMMPfam_IMD HMMPfam_IMD,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2 - no_errors LOC442668 442668 genome.wustl.edu 36 7 37591857 37591857 + RNA SNP G G C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 7 37591857 37591857 G C SNP LOC442668 XR_017442 human genbank 54_36p -1 model rna NULL NULL 0.040 - - - pseudogene SCN11A 11280 genome.wustl.edu 36 3 38888745 38888745 + Missense_Mutation SNP G G C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 3 38888745 38888745 G C SNP SCN11A NM_014139 human genbank 54_36p -1 validated missense c.3438 p.F1146L 0.996 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc - no_errors RIT2 6014 genome.wustl.edu 36 18 38949393 38949393 + Silent SNP T T G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 18 38949393 38949393 T G SNP RIT2 NM_002930 human genbank 54_36p -1 provisional silent c.90 p.G30 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176 - no_errors PABPC4 8761 genome.wustl.edu 36 1 39802157 39802157 + Missense_Mutation SNP G G C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 39802157 39802157 G C SNP PABPC4 NM_003819 human genbank 54_36p -1 reviewed missense c.1430 p.A477G 1.000 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMSmart_SM00361,superfamily_PABC (PABP) domain,HMMPfam_PABP,HMMSmart_SM00517 - no_errors SLC20A2 6575 genome.wustl.edu 36 8 42406768 42406768 + Silent SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 8 42406768 42406768 C T SNP SLC20A2 NM_006749 human genbank 54_36p -1 provisional silent c.1680 p.G560 0.993 HMMPfam_PHO4 HMMPfam_PHO4 - no_errors CNPY3 10695 genome.wustl.edu 36 6 43010282 43010282 + Missense_Mutation SNP C C G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 6 43010282 43010282 C G SNP CNPY3 NM_006586 human genbank 54_36p +1 validated missense c.243 p.D81E 0.980 NULL NULL - no_errors RRP1B 23076 genome.wustl.edu 36 21 43928938 43928938 + Missense_Mutation SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 21 43928938 43928938 G A SNP RRP1B NM_015056 human genbank 54_36p +1 validated missense c.968 p.R323H 0.924 NULL HMMPfam_Nop52 - no_errors LARS2 23395 genome.wustl.edu 36 3 45534562 45534562 + Missense_Mutation SNP C C G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 3 45534562 45534562 C G SNP LARS2 NM_015340 human genbank 54_36p +1 reviewed missense c.2208 p.I736M 0.042 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 SOCS5 9655 genome.wustl.edu 36 2 46839495 46839495 + Missense_Mutation SNP C C G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 2 46839495 46839495 C G SNP SOCS5 NM_014011 human genbank 54_36p +1 reviewed missense c.322 p.L108V 0.996 NULL superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,HMMSmart_SM00253,HMMPfam_SOCS_box - no_errors CYP4A11 1579 genome.wustl.edu 36 1 47172483 47172483 + Missense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 47172483 47172483 C T SNP CYP4A11 NM_000778 human genbank 54_36p -1 reviewed missense c.1040 p.C347Y 1.000 HMMPfam_p450,superfamily_Cytochrome P450 HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 - no_errors MAP4 4134 genome.wustl.edu 36 3 47932511 47932511 + Missense_Mutation SNP C C A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 3 47932511 47932511 C A SNP MAP4 NM_002375 human genbank 54_36p -1 reviewed missense c.1810 p.D604Y 0.149 NULL HMMPfam_Tubulin-binding,PatternScan_TAU_MAP - no_errors XRCC1 7515 genome.wustl.edu 36 19 48741889 48741889 + Silent SNP C C G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 19 48741889 48741889 C G SNP XRCC1 NM_006297 human genbank 54_36p -1 reviewed silent c.1542 p.P514 0.957 NULL HMMPfam_XRCC1_N,superfamily_Galactose-binding domain-like,superfamily_BRCT domain,HMMPfam_BRCT,HMMSmart_SM00292 - no_errors SLC25A20 788 genome.wustl.edu 36 3 48904505 48904505 + Missense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 3 48904505 48904505 C T SNP SLC25A20 NM_000387 human genbank 54_36p -1 reviewed missense c.110 p.R37Q 1.000 superfamily_Mitoch_carrier,HMMPfam_Mito_carr superfamily_Mitoch_carrier,HMMPfam_Mito_carr - no_errors SLC4A8 9498 genome.wustl.edu 36 12 50154444 50154444 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 12 50154444 50154444 G A SNP SLC4A8 NM_001039960 human genbank 54_36p +1 validated nonsense c.1956 p.W652* 1.000 HMMPfam_HCO3_cotransp superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp - no_errors PKHD1 5314 genome.wustl.edu 36 6 52008362 52008362 + Missense_Mutation SNP T T G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 6 52008362 52008362 T G SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed missense c.3214 p.K1072Q 0.947 superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,HMMSmart_SM00710,HMMPfam_G8,superfamily_Pectin lyase-like - no_errors SMC1A 8243 genome.wustl.edu 36 X 53456683 53456683 + Missense_Mutation SNP A A G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 X 53456683 53456683 A G SNP SMC1A NM_006306 human genbank 54_36p -1 reviewed missense c.746 p.I249T 1.000 HMMPfam_SMC_N,superfamily_SSF52540 HMMPfam_SMC_N,superfamily_SSF52540,superfamily_SMC_hinge,HMMPfam_SMC_hinge - no_errors HUWE1 10075 genome.wustl.edu 36 X 53580174 53580174 + Missense_Mutation SNP T A A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 X 53580174 53580174 T A SNP HUWE1 NM_031407 human genbank 54_36p -1 validated missense c.12317 p.Y4106F 1.000 superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT HMMPfam_DUF908,superfamily_ARM repeat,HMMPfam_DUF913,superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,HMMPfam_WWE,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors TMEM48 55706 genome.wustl.edu 36 1 54006278 54006278 + Missense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 54006278 54006278 C T SNP TMEM48 NM_018087 human genbank 54_36p -1 provisional missense c.1978 p.A660T 1.000 HMMPfam_Ndc1_Nup HMMPfam_Ndc1_Nup - no_errors FAM120C 54954 genome.wustl.edu 36 X 54116306 54116306 + Missense_Mutation SNP G G C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 X 54116306 54116306 G C SNP FAM120C NM_017848 human genbank 54_36p -1 validated missense c.3176 p.S1059C 1.000 NULL NULL - no_errors GNL3L 54552 genome.wustl.edu 36 X 54603700 54603700 + Silent SNP T T C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 X 54603700 54603700 T C SNP GNL3L NM_019067 human genbank 54_36p +1 validated silent c.1689 p.S563 1.000 NULL superfamily_SSF52540,HMMPfam_MMR_HSR1 - no_errors SKIV2L2 23517 genome.wustl.edu 36 5 54719678 54719678 + Silent SNP A A G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 5 54719678 54719678 A G SNP SKIV2L2 NM_015360 human genbank 54_36p +1 validated silent c.2172 p.G724 1.000 NULL superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DSHCT - no_errors BSND 7809 genome.wustl.edu 36 1 55245406 55245406 + Missense_Mutation SNP C C G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 55245406 55245406 C G SNP BSND NM_057176 human genbank 54_36p +1 reviewed missense c.421 p.L141V 0.001 NULL NULL - no_errors IL6ST 3572 genome.wustl.edu 36 5 55288850 55288850 + Missense_Mutation SNP A A G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 5 55288850 55288850 A G SNP IL6ST NM_002184 human genbank 54_36p -1 reviewed missense c.1000 p.Y334H 1.000 superfamily_Fibronectin type III,HMMSmart_SM00060 HMMPfam_Lep_receptor_Ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_L_F2 - no_errors OR5J1P 0 genome.wustl.edu 36 11 55595388 55595388 + Missense_Mutation SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 11 55595388 55595388 G A SNP OR5J1P ENST00000313544 human ensembl 54_36p +1 known missense c.307 p.V103I 0.001 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LRP1 4035 genome.wustl.edu 36 12 55875411 55875411 + Missense_Mutation SNP G G T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 12 55875411 55875411 G T SNP LRP1 NM_002332 human genbank 54_36p +1 validated missense c.8399 p.C2800F 1.000 superfamily_YWTD domain,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1 superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,PatternScan_EGF_1 - no_errors CNGB1 1258 genome.wustl.edu 36 16 56508880 56508880 + Silent SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 16 56508880 56508880 G A SNP CNGB1 NM_001297 human genbank 54_36p -1 validated silent c.1959 p.N653 1.000 superfamily_Voltage-gated potassium channels superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2 - no_errors ZNF451 26036 genome.wustl.edu 36 6 57121028 57121028 + Missense_Mutation SNP T T C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 6 57121028 57121028 T C SNP ZNF451 NM_001031623 human genbank 54_36p +1 validated missense c.2186 p.I729T 0.972 NULL superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors LOC341689 341689 genome.wustl.edu 36 13 58003065 58003065 + RNA SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 13 58003065 58003065 C T SNP LOC341689 XR_017487 human genbank 54_36p +1 model rna NULL NULL 0.878 - - - no_errors SERPINB5 5268 genome.wustl.edu 36 18 59305216 59305216 + Missense_Mutation SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 18 59305216 59305216 G A SNP SERPINB5 NM_002639 human genbank 54_36p +1 validated missense c.226 p.D76N 0.991 HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093 HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093,PatternScan_SERPIN - no_errors PTK6 5753 genome.wustl.edu 36 20 61634402 61634402 + Silent SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 20 61634402 61634402 G A SNP PTK6 NM_005975 human genbank 54_36p -1 reviewed silent c.753 p.Y251 0.966 superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors ATL3 25923 genome.wustl.edu 36 11 63176609 63176609 + Silent SNP C C G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 11 63176609 63176609 C G SNP ATL3 NM_015459 human genbank 54_36p -1 validated silent c.420 p.L140 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain - no_errors LOC644578 644578 genome.wustl.edu 36 4 63899065 63899065 + Missense_Mutation SNP T T C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 4 63899065 63899065 T C SNP LOC644578 XM_927694 human genbank 54_36p +1 model missense c.803 p.L268P 1.000 "superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00715,HMMPfam_La" "superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00715,HMMPfam_La" - no_errors ZBTB25 7597 genome.wustl.edu 36 14 64024371 64024371 + Missense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 14 64024371 64024371 C T SNP ZBTB25 NM_006977 human genbank 54_36p -1 validated missense c.331 p.A111T 0.983 superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225 superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZNF117 7670 genome.wustl.edu 36 7 64076013 64076013 + Silent SNP A A C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 7 64076013 64076013 A C SNP ZNF117 NM_015852 human genbank 54_36p -1 validated silent c.1371 p.S457 0.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SPDYC 387778 genome.wustl.edu 36 11 64697246 64697246 + Silent SNP G G T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 11 64697246 64697246 G T SNP SPDYC NM_001008778 human genbank 54_36p +1 provisional silent c.864 p.P288 0.000 NULL NULL - no_errors PTPRR 5801 genome.wustl.edu 36 12 69378350 69378350 + Missense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 12 69378350 69378350 C T SNP PTPRR NM_002849 human genbank 54_36p -1 reviewed missense c.1241 p.R414H 1.000 superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194 superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors UBE2O 63893 genome.wustl.edu 36 17 71903448 71903448 + Missense_Mutation SNP T C C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 17 71903448 71903448 T C SNP UBE2O NM_022066 human genbank 54_36p -1 validated missense c.2899 p.T967A 0.995 superfamily_UBQ-conjugat/RWD-like,HMMSmart_UBCc,HMMPfam_UQ_con PatternScan_UBIQUITIN_CONJUGAT_1,superfamily_UBQ-conjugat/RWD-like,HMMSmart_UBCc,HMMPfam_UQ_con - no_errors ZNF236 7776 genome.wustl.edu 36 18 72749489 72749489 + Missense_Mutation SNP G G C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 18 72749489 72749489 G C SNP ZNF236 NM_007345 human genbank 54_36p +1 validated missense c.2517 p.L839F 0.421 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SNUPN 10073 genome.wustl.edu 36 15 73677903 73677903 + Missense_Mutation SNP G G C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 15 73677903 73677903 G C SNP SNUPN NM_001042581 human genbank 54_36p -1 reviewed missense c.934 p.H312D 1.000 NULL NULL - no_errors LTBP2 4053 genome.wustl.edu 36 14 74045781 74045781 + Missense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 14 74045781 74045781 C T SNP LTBP2 NM_000428 human genbank 54_36p -1 reviewed missense c.3316 p.G1106R 0.068 PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181 superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_TB module/8-cys domain,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,HMMPfam_EGF,superfamily_Growth factor receptor domain - no_errors TNNI3K 51086 genome.wustl.edu 36 1 74607743 74607743 + Missense_Mutation SNP A A T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 74607743 74607743 A T SNP TNNI3K NM_015978 human genbank 54_36p +1 validated missense c.1553 p.H518L 1.000 superfamily_Kinase_like,HMMPfam_Pkinase_Tyr superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,PatternScan_PROTEIN_KINASE_ATP - no_errors PRKRIR 5612 genome.wustl.edu 36 11 75740716 75740716 + Missense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 11 75740716 75740716 C T SNP PRKRIR NM_004705 human genbank 54_36p -1 provisional missense c.1126 p.G376R 0.997 NULL HMMPfam_THAP,HMMSmart_SM00692,HMMPfam_hATC - no_errors CCDC137 339230 genome.wustl.edu 36 17 77247669 77247669 + Missense_Mutation SNP C T T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 17 77247669 77247669 C T SNP CCDC137 NM_199287 human genbank 54_36p +1 validated missense c.278 p.T93I 0.959 NULL NULL - no_errors LRRTM4 80059 genome.wustl.edu 36 2 77599962 77599962 + Missense_Mutation SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 2 77599962 77599962 G A SNP LRRTM4 NM_024993 human genbank 54_36p -1 provisional missense c.541 p.R181W 1.000 superfamily_SSF52058 HMMSmart_LRRNT,superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1 - no_errors ZNF750 79755 genome.wustl.edu 36 17 78381491 78381491 + Missense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 17 78381491 78381491 C T SNP ZNF750 NM_024702 human genbank 54_36p -1 reviewed missense c.1988 p.C663Y 0.000 NULL HMMSmart_ZnF_C2H2 - no_errors RBM26 64062 genome.wustl.edu 36 13 78849644 78849644 + Silent SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 13 78849644 78849644 C T SNP RBM26 NM_022118 human genbank 54_36p -1 validated silent c.198 p.Q66 1.000 superfamily_SSF101233 superfamily_SSF101233,HMMPfam_DUF1777,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928,HMMSmart_RRM - no_errors KCNK10 54207 genome.wustl.edu 36 14 87724064 87724064 + Missense_Mutation SNP C C G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 14 87724064 87724064 C G SNP KCNK10 NM_138317 human genbank 54_36p -1 reviewed missense c.1011 p.E337D 1.000 superfamily_Voltage-gated potassium channels superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2 - no_errors KERA 11081 genome.wustl.edu 36 12 89973429 89973429 + Missense_Mutation SNP A A G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 12 89973429 89973429 A G SNP KERA NM_007035 human genbank 54_36p -1 validated missense c.761 p.L254P 0.994 superfamily_SSF52058 superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1 - no_errors MTNR1B 4544 genome.wustl.edu 36 11 92354349 92354349 + Silent SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 11 92354349 92354349 C T SNP MTNR1B NM_005959 human genbank 54_36p +1 reviewed silent c.312 p.D104 0.226 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LOC440311 440311 genome.wustl.edu 36 15 93200486 93200486 + RNA SNP C T T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 15 93200486 93200486 C T SNP LOC440311 XR_016779 human genbank 54_36p +1 model rna NULL NULL 0.886 - - - pseudogene ABCA4 24 genome.wustl.edu 36 1 94267592 94267592 + Silent SNP G G T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 94267592 94267592 G T SNP ABCA4 NM_000350 human genbank 54_36p -1 reviewed silent c.4536 p.P1512 0.085 NULL superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors GPR120 338557 genome.wustl.edu 36 10 95337009 95337009 + Missense_Mutation SNP T T G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 10 95337009 95337009 T G SNP GPR120 NM_181745 human genbank 54_36p +1 validated missense c.787 p.Y263D 0.372 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors NEDD1 121441 genome.wustl.edu 36 12 95853005 95853005 + Missense_Mutation SNP G G T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 12 95853005 95853005 G T SNP NEDD1 NM_152905 human genbank 54_36p +1 validated missense c.610 p.V204L 0.990 superfamily_WD40 repeat-like,HMMSmart_SM00320 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors DPYD 1806 genome.wustl.edu 36 1 97812063 97812063 + Silent SNP G G T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 97812063 97812063 G T SNP DPYD NM_000110 human genbank 54_36p -1 reviewed silent c.1180 p.R394 1.000 superfamily_SSF51971,HMMPfam_Pyr_redox_2 superfamily_Helical_ferredxn,superfamily_SSF51971,HMMPfam_Pyr_redox_2,superfamily_SSF51395,HMMPfam_DHO_dh,superfamily_SSF54862,HMMPfam_Fer4,PatternScan_4FE4S_FER_1 - no_errors FRRS1 391059 genome.wustl.edu 36 1 99950608 99950608 + Missense_Mutation SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 99950608 99950608 G A SNP FRRS1 NM_001013660 human genbank 54_36p -1 validated missense c.1375 p.L459F 1.000 HMMSmart_B561 HMMPfam_Reeler,HMMPfam_DOMON,HMMSmart_DoH,HMMSmart_B561 - no_errors BTK 695 genome.wustl.edu 36 X 100504323 100504323 + Silent SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 X 100504323 100504323 G A SNP BTK NM_000061 human genbank 54_36p -1 reviewed silent c.402 p.Y134 1.000 superfamily_SSF50729,HMMSmart_PH superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_BTK,HMMPfam_BTK,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors OLFM3 118427 genome.wustl.edu 36 1 102063308 102063308 + Missense_Mutation SNP G G C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 102063308 102063308 G C SNP OLFM3 NM_058170 human genbank 54_36p -1 validated missense c.454 p.Q152E 1.000 NULL HMMPfam_OLF,HMMSmart_SM00284 - no_errors UBE2D3 7323 genome.wustl.edu 36 4 103950104 103950104 + Missense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 4 103950104 103950104 C T SNP UBE2D3 NM_181893 human genbank 54_36p -1 reviewed missense c.50 p.R17H 1.000 superfamily_UBQ-conjugat/RWD-like,HMMSmart_UBCc,HMMPfam_UQ_con superfamily_UBQ-conjugat/RWD-like,HMMSmart_UBCc,HMMPfam_UQ_con,PatternScan_UBIQUITIN_CONJUGAT_1 - no_errors APPL2 55198 genome.wustl.edu 36 12 104092235 104092235 + Missense_Mutation SNP T T A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 12 104092235 104092235 T A SNP APPL2 NM_018171 human genbank 54_36p -1 validated missense c.1982 p.E661V 1.000 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_PID - no_errors SRPK2 6733 genome.wustl.edu 36 7 104570994 104570994 + Missense_Mutation SNP T T G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 7 104570994 104570994 T G SNP SRPK2 NM_182692 human genbank 54_36p -1 validated missense c.833 p.N278T 1.000 superfamily_Kinase_like,HMMPfam_Pkinase superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors EXPH5 23086 genome.wustl.edu 36 11 107914973 107914973 + Missense_Mutation SNP A A T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 11 107914973 107914973 A T SNP EXPH5 NM_015065 human genbank 54_36p -1 validated missense c.431 p.L144Q 0.000 NULL NULL - no_errors CARKD 55739 genome.wustl.edu 36 13 110085052 110085052 + Silent SNP C T T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 13 110085052 110085052 C T SNP CARKD NM_018210 human genbank 54_36p +1 validated silent c.579 p.A193 0.998 superfamily_SSF53613,HMMPfam_Carb_kinase superfamily_SSF53613,HMMPfam_Carb_kinase - no_errors ELOVL6 79071 genome.wustl.edu 36 4 111192086 111192086 + Missense_Mutation SNP A A G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 4 111192086 111192086 A G SNP ELOVL6 NM_024090 human genbank 54_36p -1 validated missense c.655 p.W219R 1.000 HMMPfam_ELO HMMPfam_ELO,PatternScan_ELO - no_errors CSMD3 114788 genome.wustl.edu 36 8 114100544 114100544 + Missense_Mutation SNP T T G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 8 114100544 114100544 T G SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.958 p.K320Q 1.000 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10 - no_errors TSHB 7252 genome.wustl.edu 36 1 115378364 115378364 + Missense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 115378364 115378364 C T SNP TSHB NM_000549 human genbank 54_36p +1 validated missense c.410 p.S137F 0.818 NULL HMMSmart_SM00068,HMMPfam_Cys_knot,superfamily_Cystine-knot cytokines,PatternScan_GLYCO_HORMONE_BETA_1,PatternScan_GLYCO_HORMONE_BETA_2 - no_errors CEP164 22897 genome.wustl.edu 36 11 116785629 116785629 + Silent SNP C C A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 11 116785629 116785629 C A SNP CEP164 NM_014956 human genbank 54_36p +1 validated silent c.3834 p.V1278 0.035 NULL superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW - no_errors ODZ1 10178 genome.wustl.edu 36 X 123345830 123345830 + Missense_Mutation SNP C C G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 X 123345830 123345830 C G SNP ODZ1 NM_014253 human genbank 54_36p -1 provisional missense c.6611 p.R2204T 1.000 NULL HMMPfam_Ten_N,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_SSF57196,superfamily_SSF101898,HMMPfam_NHL,superfamily_N2O_reductase_N,HMMPfam_RHS_repeat - no_errors UROS 7390 genome.wustl.edu 36 10 127495040 127495040 + Missense_Mutation SNP T T G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 10 127495040 127495040 T G SNP UROS NM_000375 human genbank 54_36p -1 reviewed missense c.19 p.K7Q 0.977 superfamily_Uroporphyrinogen III synthase (U3S HemD) superfamily_Uroporphyrinogen III synthase (U3S HemD),HMMPfam_HEM4,PatternScan_ALDEHYDE_DEHYDR_CYS - no_errors C6orf190 387357 genome.wustl.edu 36 6 128176099 128176099 + Silent SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 6 128176099 128176099 C T SNP C6orf190 NM_001010923 human genbank 54_36p -1 validated silent c.1380 p.K460 1.000 NULL NULL - no_errors OPCML 4978 genome.wustl.edu 36 11 132032305 132032305 + Missense_Mutation SNP G G T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 11 132032305 132032305 G T SNP OPCML NM_002545 human genbank 54_36p -1 reviewed missense c.287 p.T96N 1.000 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_I-set,HMMPfam_ig - no_errors C10orf92 54777 genome.wustl.edu 36 10 134510755 134510755 + Missense_Mutation SNP T T G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 10 134510755 134510755 T G SNP C10orf92 ENST00000263170 human ensembl 54_36p -1 known missense c.496 p.T166P 0.000 NULL NULL - no_errors SURF4 6836 genome.wustl.edu 36 9 135221721 135221721 + Missense_Mutation SNP T T A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 9 135221721 135221721 T A SNP SURF4 NM_033161 human genbank 54_36p -1 reviewed missense c.359 p.N120I 1.000 HMMPfam_SURF4 HMMPfam_SURF4,PatternScan_SURF4 - no_errors DARS 1615 genome.wustl.edu 36 2 136386560 136386560 + Missense_Mutation SNP C C A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 2 136386560 136386560 C A SNP DARS NM_001349 human genbank 54_36p -1 validated missense c.1196 p.R399I 1.000 HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases superfamily_Nucleic acid-binding proteins,HMMPfam_tRNA_anti,HMMPfam_tRNA-synt_2,superfamily_Class II aaRS and biotin synthetases - no_errors AGK 55750 genome.wustl.edu 36 7 140968038 140968038 + Missense_Mutation SNP G G C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 7 140968038 140968038 G C SNP AGK NM_018238 human genbank 54_36p +1 validated missense c.556 p.E186Q 1.000 HMMPfam_DAGK_cat,HMMSmart_SM00046 HMMPfam_DAGK_cat,HMMSmart_SM00046 - no_errors CYP11B1 1584 genome.wustl.edu 36 8 143953690 143953690 + Missense_Mutation SNP A A T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 8 143953690 143953690 A T SNP CYP11B1 NM_000497 human genbank 54_36p -1 reviewed missense c.1162 p.S388T 0.087 HMMPfam_p450,superfamily_Cytochrome_P450 HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 - no_errors SASH1 23328 genome.wustl.edu 36 6 148906935 148906935 + Missense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 6 148906935 148906935 C T SNP SASH1 NM_015278 human genbank 54_36p +1 validated missense c.2636 p.A879V 0.000 NULL superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2 - no_errors IQGAP3 128239 genome.wustl.edu 36 1 154780595 154780595 + Silent SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 154780595 154780595 C T SNP IQGAP3 NM_178229 human genbank 54_36p -1 validated silent c.2433 p.L811 0.874 superfamily_SSF52540,HMMSmart_IQ,HMMPfam_IQ superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH,HMMSmart_IQ,superfamily_SSF52540,HMMPfam_IQ,superfamily_Rho_GAP,HMMSmart_RasGAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMPfam_RasGAP_C - no_errors HAPLN2 60484 genome.wustl.edu 36 1 154860335 154860335 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 154860335 154860335 C A SNP HAPLN2 NM_021817 human genbank 54_36p +1 validated nonsense c.198 p.Y66* 1.000 HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00406 HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00406,HMMSmart_SM00445,HMMPfam_Xlink,superfamily_C-type lectin-like,PatternScan_LINK_1 - no_errors PLCH1 23007 genome.wustl.edu 36 3 156697890 156697890 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 3 156697890 156697890 G A SNP PLCH1 NM_014996 human genbank 54_36p -1 validated nonsense c.1717 p.R573* 0.996 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 KCNH7 90134 genome.wustl.edu 36 2 162965117 162965117 + Silent SNP G G C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 2 162965117 162965117 G C SNP KCNH7 NM_033272 human genbank 54_36p -1 reviewed silent c.2235 p.A745 0.995 superfamily_cAMP-binding domain-like,HMMSmart_SM00100 superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding - no_errors DUSP27 92235 genome.wustl.edu 36 1 165361676 165361676 + Silent SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 165361676 165361676 C T SNP DUSP27 NM_001080426 human genbank 54_36p +1 provisional silent c.684 p.G228 0.856 superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc - no_errors WWC1 23286 genome.wustl.edu 36 5 167759117 167759117 + Missense_Mutation SNP A A C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 5 167759117 167759117 A C SNP WWC1 NM_015238 human genbank 54_36p +1 provisional missense c.557 p.Q186P 1.000 NULL superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors XIRP2 129446 genome.wustl.edu 36 2 167808356 167808356 + Silent SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 2 167808356 167808356 C T SNP XIRP2 NM_152381 human genbank 54_36p +1 validated silent c.2208 p.F736 1.000 HMMPfam_Xin HMMPfam_Xin - no_errors ITGA6 3655 genome.wustl.edu 36 2 173077150 173077150 + Missense_Mutation SNP A A G novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 2 173077150 173077150 A G SNP ITGA6 NM_001079818 human genbank 54_36p +1 reviewed missense c.3200 p.K1067R 1.000 NULL superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA - no_errors PDE11A 50940 genome.wustl.edu 36 2 178644816 178644816 + Missense_Mutation SNP G G T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 2 178644816 178644816 G T SNP PDE11A NM_016953 human genbank 54_36p -1 reviewed missense c.595 p.H199N 1.000 superfamily_GAF domain-like superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065,superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors TTN 7273 genome.wustl.edu 36 2 179287976 179287976 + Missense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 2 179287976 179287976 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.22450 p.G7484S 0.001 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00406 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors GNB4 59345 genome.wustl.edu 36 3 180617019 180617019 + Missense_Mutation SNP G G T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 3 180617019 180617019 G T SNP GNB4 NM_021629 human genbank 54_36p -1 reviewed missense c.223 p.Q75K 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors CERKL 375298 genome.wustl.edu 36 2 182121772 182121772 + Missense_Mutation SNP A A C novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 2 182121772 182121772 A C SNP CERKL NM_201548 human genbank 54_36p -1 validated missense c.953 p.F318C 1.000 NULL HMMPfam_DAGK_cat - no_errors TRIML1 339976 genome.wustl.edu 36 4 189305425 189305425 + Nonsense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 4 189305425 189305425 C T SNP TRIML1 NM_178556 human genbank 54_36p +1 provisional nonsense c.1312 p.Q438* 0.945 HMMPfam_SPRY,HMMSmart_SPRY superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY - no_errors OR13G1 441933 genome.wustl.edu 36 1 245902645 245902645 + Missense_Mutation SNP C C T novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 1 245902645 245902645 C T SNP OR13G1 NM_001005487 human genbank 54_36p -1 provisional missense c.322 p.E108K 0.398 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors STRAP 11171 genome.wustl.edu 36 12 15934212 15934212 + Splice_Site DEL T T - novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 12 15934212 15934212 T - DEL STRAP NM_007178 human genbank 54_36p +1 validated splice_site_del c.330+2 e3+2 1.000 - - (deletion:intron[15934211,15934797]) no_errors DSC1 1823 genome.wustl.edu 36 18 26973708 26973714 + Splice_Site DEL CCTGCAT CCTGCAT - novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 CCTGCAT CCTGCAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 18 26973708 26973714 CCTGCAT - DEL DSC1 NM_024421 human genbank 54_36p -1 reviewed splice_site_del c.1663+7_1663+1 e12-1 0.988:0.816:0.797:0.777:0.750:0.789:0.794 - - (deletion:intron[26968746,26973708], cds_exon[26973709,26973851]) no_errors LOC441722 441722 genome.wustl.edu 36 15 33172634 33172636 + In_Frame_Del DEL CCA CCA - novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 CCA CCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 15 33172634 33172636 CCA - DEL LOC441722 XM_497450 human genbank 54_36p +1 model in_frame_del c.661_663 p.P221in_frame_del 0.992:0.999:1.000 NULL superfamily_CCCH zinc finger,HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_RNA-binding domain RBD,HMMSmart_SM00361 (deletion:cds_exon[33171974,33172705]) no_errors FAM75A6 0 genome.wustl.edu 36 9 43564982 43564986 + Frame_Shift_Del DEL TTCTG TTCTG - novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 TTCTG TTCTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 9 43564982 43564986 TTCTG - DEL FAM75A6 ENST00000332857 human ensembl 54_36p -1 known frame_shift_del c.3701_3697 p.Q1233fs 0.002:0.001:0.002:0.001:0.001 NULL NULL (deletion:cds_exon[43564651,43568374]) no_errors POT1 25913 genome.wustl.edu 36 7 124252619 124252631 + Frame_Shift_Del DEL TCTGATGCTGGAA TCTGATGCTGGAA - novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 TCTGATGCTGGAA TCTGATGCTGGAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 7 124252619 124252631 TCTGATGCTGGAA - DEL POT1 NM_015450 human genbank 54_36p -1 reviewed frame_shift_del c.1715_1703 p.I568fs 0.970:0.995:0.997:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000 NULL superfamily_Nucleic acid-binding proteins,HMMPfam_Telo_bind (deletion:cds_exon[124252542,124252647]) no_errors LAMA2 3908 genome.wustl.edu 36 6 129808656 129808664 + Frame_Shift_Del DEL TTCTGTAAG TTCTGTAAG - novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 TTCTGTAAG TTCTGTAAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 6 129808656 129808664 TTCTGTAAG - DEL LAMA2 NM_000426 human genbank 54_36p +1 reviewed frame_shift_del c.6426_6429 p.N2142fs 1.000:1.000:1.000:0.999 superfamily_ConA_like_lec_gl,HMMPfam_Laminin_II HMMSmart_LamNT,HMMPfam_Laminin_N,superfamily_Gal_bind_like,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_SSF57196,PatternScan_EGF_2,HMMSmart_LamB,HMMPfam_Laminin_B,HMMPfam_Laminin_I,superfamily_SSF56399,HMMPfam_Laminin_II,HMMSmart_LamG,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2 (deletion:cds_exon[129808505,129808659], intron[129808660,129815825]) no_errors TOP1MT 116447 genome.wustl.edu 36 8 144478981 144478983 + In_Frame_Del DEL GGC GGC - novel unknown TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 GGC GGC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7c50e035-7786-4766-b151-7915a077be43 9c90329c-f516-46bc-b797-cc2ef0003ff5 8 144478981 144478983 GGC - DEL TOP1MT NM_052963 human genbank 54_36p -1 reviewed in_frame_del c.581_579 p.P194in_frame_del 0.999:1.000:0.990 superfamily_TopoI_DNA_bd_euk,HMMPfam_Topoisom_I_N superfamily_TopoI_DNA_bd_euk,HMMPfam_Topoisom_I_N,HMMSmart_TOPEUc,superfamily_DNA_brk_join_enz,HMMPfam_Topoisom_I,superfamily_Topismrse_insert,PatternScan_TOPOISOMERASE_I_EUK (deletion:cds_exon[144478891,144479078]) no_errors