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 CEP72 55722 genome.wustl.edu 36 5 700995 700995 + Missense_Mutation SNP T T A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 5 700995 700995 T A SNP CEP72 NM_018140 human genbank 54_36p +1 reviewed missense c.1742 p.I581N 1.000 NULL superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRRcap - no_errors WDR18 57418 genome.wustl.edu 36 19 942315 942315 + Missense_Mutation SNP C C G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 19 942315 942315 C G SNP WDR18 NM_024100 human genbank 54_36p +1 reviewed missense c.895 p.Q299E 0.954 superfamily_WD40_like superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors MUC6 4588 genome.wustl.edu 36 11 1007307 1007307 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 11 1007307 1007307 G A SNP MUC6 NM_005961 human genbank 54_36p -1 validated missense c.5494 p.P1832S 0.003 NULL HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00215,HMMSmart_SM00041 - no_errors MUC6 4588 genome.wustl.edu 36 11 1007325 1007325 + Missense_Mutation SNP A A C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 11 1007325 1007325 A C SNP MUC6 NM_005961 human genbank 54_36p -1 validated missense c.5476 p.Y1826D 0.000 NULL HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,HMMSmart_SM00215,HMMPfam_C8,HMMPfam_TIL - no_errors NOP56 10528 genome.wustl.edu 36 20 2586646 2586646 + Missense_Mutation SNP A A C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 20 2586646 2586646 A C SNP NOP56 NM_006392 human genbank 54_36p +1 reviewed missense c.1491 p.E497D 0.972 NULL HMMPfam_NOP5NT,HMMPfam_NOSIC,superfamily_SSF89124,HMMPfam_Nop - no_errors EFCAB4B 84766 genome.wustl.edu 36 12 3635764 3635764 + Missense_Mutation SNP C C G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 12 3635764 3635764 C G SNP EFCAB4B NM_032680 human genbank 54_36p -1 validated missense c.832 p.E278Q 1.000 NULL superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors JAKMIP1 152789 genome.wustl.edu 36 4 6165463 6165463 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 4 6165463 6165463 G A SNP JAKMIP1 NM_001099433 human genbank 54_36p -1 validated missense c.16 p.R6W 1.000 NULL NULL - no_errors LAMA1 284217 genome.wustl.edu 36 18 7040779 7040779 + Silent SNP T T G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 18 7040779 7040779 T G SNP LAMA1 NM_005559 human genbank 54_36p -1 validated silent c.502 p.R168 0.977 HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_2,HMMSmart_SM00281,HMMPfam_Laminin_B,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMSmart_SM00282,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2 - no_errors RREB1 6239 genome.wustl.edu 36 6 7176271 7176271 + Silent SNP T T G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 6 7176271 7176271 T G SNP RREB1 NM_001003699 human genbank 54_36p +1 validated silent c.2940 p.P980 0.002 NULL HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667 - no_errors PEX5 5830 genome.wustl.edu 36 12 7252403 7252403 + Missense_Mutation SNP C C A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 12 7252403 7252403 C A SNP PEX5 NM_000319 human genbank 54_36p +1 reviewed missense c.1241 p.A414D 1.000 superfamily_SSF48452 superfamily_SSF48452,HMMSmart_TPR,HMMPfam_TPR_1 - no_errors CLEC4A 50856 genome.wustl.edu 36 12 8169433 8169433 + Missense_Mutation SNP A A G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 12 8169433 8169433 A G SNP CLEC4A NM_016184 human genbank 54_36p +1 reviewed missense c.92 p.E31G 0.000 NULL superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors KAL1 3730 genome.wustl.edu 36 X 8463805 8463805 + Missense_Mutation SNP A A G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b X 8463805 8463805 A G SNP KAL1 NM_000216 human genbank 54_36p -1 reviewed missense c.1669 p.S557P 0.948 HMMSmart_FN3,HMMPfam_fn3 superfamily_WAP,HMMPfam_WAP,HMMSmart_WAP,PatternScan_4_DISULFIDE_CORE,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 - no_errors PMM2 5373 genome.wustl.edu 36 16 8806196 8806196 + Missense_Mutation SNP A A G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 16 8806196 8806196 A G SNP PMM2 NM_000303 human genbank 54_36p +1 reviewed missense c.250 p.R84G 1.000 superfamily_HAD-like,HMMPfam_PMM superfamily_HAD-like,HMMPfam_PMM - no_errors IL17RC 84818 genome.wustl.edu 36 3 9950017 9950017 + Missense_Mutation SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 3 9950017 9950017 G C SNP IL17RC NM_153461 human genbank 54_36p +1 reviewed missense c.2116 p.D706H 1.000 HMMPfam_SEFIR HMMPfam_SEFIR - no_errors NPPB 4879 genome.wustl.edu 36 1 11841061 11841061 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 11841061 11841061 G A SNP NPPB NM_002521 human genbank 54_36p -1 reviewed missense c.185 p.T62I 0.000 HMMPfam_ANP HMMPfam_ANP,HMMSmart_NAT_PEP,PatternScan_NATRIURETIC_PEPTIDE - no_errors NBAS 51594 genome.wustl.edu 36 2 15475124 15475124 + Missense_Mutation SNP T T G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 2 15475124 15475124 T G SNP NBAS NM_015909 human genbank 54_36p -1 validated missense c.2741 p.K914T 1.000 HMMPfam_Sec39 superfamily_WD40 repeat-like,HMMPfam_Sec39,PatternScan_RIBOSOMAL_S14 - no_errors CTPS2 56474 genome.wustl.edu 36 X 16598670 16598670 + Silent SNP T T C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b X 16598670 16598670 T C SNP CTPS2 NM_019857 human genbank 54_36p -1 reviewed silent c.1143 p.K381 1.000 superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_CTP_synth_N,superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase - no_errors PEX26 55670 genome.wustl.edu 36 22 16950811 16950811 + Missense_Mutation SNP T T G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 22 16950811 16950811 T G SNP PEX26 ENST00000399746 human ensembl 54_36p +1 known missense c.884 p.L295R 0.007 HMMPfam_Pex26 HMMPfam_Pex26 - no_errors RRBP1 6238 genome.wustl.edu 36 20 17554168 17554168 + Missense_Mutation SNP C C G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 20 17554168 17554168 C G SNP RRBP1 NM_001042576 human genbank 54_36p -1 reviewed missense c.1744 p.V582L 0.007 NULL HMMPfam_Rib_recp_KP_reg - no_errors MAP1S 55201 genome.wustl.edu 36 19 17699345 17699345 + Missense_Mutation SNP A A T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 19 17699345 17699345 A T SNP MAP1S NM_018174 human genbank 54_36p +1 validated missense c.2152 p.S718C 0.015 NULL NULL - no_errors TOP3A 7156 genome.wustl.edu 36 17 18122086 18122086 + Missense_Mutation SNP C C A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 17 18122086 18122086 C A SNP TOP3A NM_004618 human genbank 54_36p -1 reviewed missense c.2455 p.A819S 1.000 HMMPfam_zf-GRF superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00493,HMMPfam_Toprim,HMMSmart_SM00436,HMMPfam_Topoisom_bac,HMMSmart_SM00437,PatternScan_TOPOISOMERASE_I_PROK,superfamily_Zinc beta-ribbon,HMMPfam_zf-C4_Topoisom,HMMPfam_zf-GRF,PatternScan_AA_TRNA_LIGASE_I - no_errors LOC253482 253482 genome.wustl.edu 36 9 19190506 19190506 + RNA SNP A A G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 9 19190506 19190506 A G SNP LOC253482 XR_016415 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene AKR7L 246181 genome.wustl.edu 36 1 19466384 19466384 + Silent SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 19466384 19466384 G A SNP AKR7L NM_201252 human genbank 54_36p -1 reviewed silent c.459 p.I153 0.996 superfamily_Aldo/ket_red superfamily_Aldo/ket_red - no_errors ZNF101 94039 genome.wustl.edu 36 19 19651530 19651530 + Silent SNP T T A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 19 19651530 19651530 T A SNP ZNF101 NM_033204 human genbank 54_36p +1 provisional silent c.732 p.V244 0.030 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 - no_errors LAMA3 3909 genome.wustl.edu 36 18 19773185 19773185 + Missense_Mutation SNP C C G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 18 19773185 19773185 C G SNP LAMA3 NM_198129 human genbank 54_36p +1 reviewed missense c.8863 p.L2955V 0.595 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 MBOAT1 154141 genome.wustl.edu 36 6 20259439 20259439 + Missense_Mutation SNP C C A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 6 20259439 20259439 C A SNP MBOAT1 NM_001080480 human genbank 54_36p -1 provisional missense c.279 p.M93I 0.815 NULL HMMPfam_MBOAT - no_errors ZNF70 7621 genome.wustl.edu 36 22 22416677 22416677 + Silent SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 22 22416677 22416677 G A SNP ZNF70 NM_021916 human genbank 54_36p -1 provisional silent c.651 p.I217 0.457 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors BCL2L2 599 genome.wustl.edu 36 14 22846916 22846916 + Missense_Mutation SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 14 22846916 22846916 G T SNP BCL2L2 NM_004050 human genbank 54_36p +1 reviewed missense c.100 p.G34W 0.988 superfamily_Bcl-2 inhibitors of programmed cell death superfamily_Bcl-2 inhibitors of programmed cell death,HMMPfam_BH4,HMMSmart_SM00265,PatternScan_BH4_1,HMMPfam_Bcl-2,HMMSmart_SM00337,PatternScan_BH1,PatternScan_BH2 - no_errors SRRM1 10250 genome.wustl.edu 36 1 24868559 24868559 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 24868559 24868559 G A SNP SRRM1 NM_005839 human genbank 54_36p +1 validated missense c.2098 p.V700I 0.243 NULL superfamily_PWI domain,HMMSmart_SM00311,HMMPfam_PWI - no_errors DSC1 1823 genome.wustl.edu 36 18 26966566 26966566 + Missense_Mutation SNP A A G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 18 26966566 26966566 A G SNP DSC1 NM_024421 human genbank 54_36p -1 reviewed missense c.2201 p.I734T 1.000 NULL HMMPfam_Cadherin_pro,superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1 - no_errors NEK10 152110 genome.wustl.edu 36 3 27136290 27136290 + Missense_Mutation SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 3 27136290 27136290 G T SNP NEK10 ENST00000396636 human ensembl 54_36p -1 known missense c.1487 p.S496Y 0.218 NULL HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors MYO1D 4642 genome.wustl.edu 36 17 28089444 28089444 + Silent SNP C G G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 17 28089444 28089444 C G SNP MYO1D NM_015194 human genbank 54_36p -1 provisional silent c.1686 p.L562 0.977 HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_Myosin_TH1 - no_errors SCAND3 114821 genome.wustl.edu 36 6 28648461 28648461 + Silent SNP A A G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 6 28648461 28648461 A G SNP SCAND3 NM_052923 human genbank 54_36p -1 provisional silent c.3184 p.L1062 1.000 NULL HMMPfam_SCAN,HMMSmart_SCAN,superfamily_RNaseH_fold,HMMPfam_rve,HMMPfam_hATC - no_errors DMD 1756 genome.wustl.edu 36 X 31054701 31054701 + Silent SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b X 31054701 31054701 G T SNP DMD NM_004006 human genbank 54_36p -1 reviewed silent c.11025 p.T3675 1.000 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,HMMPfam_Spectrin,superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_t-snare proteins,superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_EF-hand,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,superfamily_Prefoldin - no_errors MCCD1 401250 genome.wustl.edu 36 6 31604814 31604814 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 6 31604814 31604814 G A SNP MCCD1 NM_001011700 human genbank 54_36p +1 validated missense c.44 p.R15H 0.098 NULL NULL - no_errors EIF2S2 8894 genome.wustl.edu 36 20 32156956 32156956 + Missense_Mutation SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 20 32156956 32156956 C T SNP EIF2S2 NM_003908 human genbank 54_36p -1 reviewed missense c.72 p.M24I 1.000 NULL superfamily_Translation initiation factor 2 beta aIF2beta N-terminal domain,HMMPfam_eIF-5_eIF-2B,HMMSmart_SM00653,superfamily_Zinc-binding domain of translation initiation factor 2 beta - no_errors ADAMTS12 81792 genome.wustl.edu 36 5 33673447 33673447 + Missense_Mutation SNP A A C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 5 33673447 33673447 A C SNP ADAMTS12 NM_030955 human genbank 54_36p -1 reviewed missense c.1880 p.F627C 0.989 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors uc002hrd.1 0 genome.wustl.edu 36 17 34441476 34441476 + Silent SNP A T T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 17 34441476 34441476 A T SNP uc002hrd.1 ENST00000398572 human ensembl 54_36p +1 known silent c.261 p.P87 0.001 NULL NULL - no_errors APOL5 80831 genome.wustl.edu 36 22 34446617 34446617 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 22 34446617 34446617 G A SNP APOL5 NM_030642 human genbank 54_36p +1 reviewed missense c.112 p.V38I 0.005 NULL HMMPfam_ApoL - no_errors MYH9 4627 genome.wustl.edu 36 22 35018157 35018157 + Missense_Mutation SNP T T G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 22 35018157 35018157 T G SNP MYH9 NM_002473 human genbank 54_36p -1 reviewed missense c.4165 p.K1389Q 1.000 HMMPfam_Myosin_tail_1 HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin,HMMPfam_Myosin_tail_1,superfamily_Regulator of G-protein signaling RGS - no_errors KIAA1539 80256 genome.wustl.edu 36 9 35097716 35097716 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 9 35097716 35097716 G A SNP KIAA1539 NM_025182 human genbank 54_36p -1 predicted missense c.556 p.L186F 1.000 NULL NULL - no_errors DKFZP586H2123 25891 genome.wustl.edu 36 11 35410940 35410940 + Missense_Mutation SNP T T A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 11 35410940 35410940 T A SNP DKFZP586H2123 NM_015430 human genbank 54_36p -1 validated missense c.1754 p.D585V 1.000 superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin HMMSmart_EGF,superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB,superfamily_SSF57196,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin - no_errors RECK 8434 genome.wustl.edu 36 9 36108898 36108898 + Missense_Mutation SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 9 36108898 36108898 G T SNP RECK NM_021111 human genbank 54_36p +1 reviewed missense c.2398 p.A800S 0.000 NULL superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2,HMMSmart_SM00280,PatternScan_KAZAL - no_errors LMBRD2 92255 genome.wustl.edu 36 5 36158792 36158792 + Missense_Mutation SNP C C A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 5 36158792 36158792 C A SNP LMBRD2 NM_001007527 human genbank 54_36p -1 validated missense c.851 p.G284V 1.000 HMMPfam_LMBR1 HMMPfam_LMBR1 - no_errors MYD88 4615 genome.wustl.edu 36 3 38157748 38157748 + Missense_Mutation SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 3 38157748 38157748 G C SNP MYD88 NM_002468 human genbank 54_36p +1 validated missense c.858 p.W286C 1.000 superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR - no_errors UTP11L 51118 genome.wustl.edu 36 1 38261048 38261048 + Missense_Mutation SNP C C G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 38261048 38261048 C G SNP UTP11L NM_016037 human genbank 54_36p +1 validated missense c.658 p.Q220E 1.000 HMMPfam_Utp11 HMMPfam_Utp11 - no_errors EGFLAM 133584 genome.wustl.edu 36 5 38494201 38494201 + Missense_Mutation SNP A A G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 5 38494201 38494201 A G SNP EGFLAM NM_152403 human genbank 54_36p +1 validated missense c.2719 p.M907V 1.000 superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2 superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_EGF,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,HMMSmart_LamG,HMMPfam_Laminin_G_1,HMMPfam_EGF,PatternScan_EGF_2,HMMPfam_Laminin_G_2 - no_errors EMILIN3 90187 genome.wustl.edu 36 20 39424412 39424412 + Missense_Mutation SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 20 39424412 39424412 G T SNP EMILIN3 NM_052846 human genbank 54_36p -1 validated missense c.1211 p.A404E 0.016 NULL HMMPfam_EMI - no_errors MACF1 23499 genome.wustl.edu 36 1 39676109 39676109 + Missense_Mutation SNP T T A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 39676109 39676109 T A SNP MACF1 NM_033044 human genbank 54_36p +1 reviewed missense c.13391 p.I4464N 0.924 HMMPfam_Spectrin,HMMSmart_SPEC superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_GAS2 - no_errors KBTBD7 84078 genome.wustl.edu 36 13 40664912 40664912 + Missense_Mutation SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 13 40664912 40664912 C T SNP KBTBD7 NM_032138 human genbank 54_36p -1 provisional missense c.1482 p.M494I 1.000 superfamily_Galactose oxidase central domain superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1 - no_errors C6 729 genome.wustl.edu 36 5 41185205 41185205 + Missense_Mutation SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 5 41185205 41185205 C T SNP C6 NM_000065 human genbank 54_36p -1 reviewed missense c.2518 p.G840S 0.051 NULL PatternScan_EGF_2,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMPfam_MACPF,HMMSmart_MACPF,PatternScan_MAC_PERFORIN,PatternScan_EGF_1,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP,HMMSmart_FIMAC,HMMSmart_KAZAL,HMMPfam_Kazal_2 - no_errors ANK1 286 genome.wustl.edu 36 8 41696421 41696421 + Missense_Mutation SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 8 41696421 41696421 G T SNP ANK1 NM_020476 human genbank 54_36p -1 reviewed missense c.1022 p.P341Q 0.999 superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00005,superfamily_DEATH domain,HMMPfam_Death - no_errors COX7A2L 9167 genome.wustl.edu 36 2 42431993 42431993 + Missense_Mutation SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 2 42431993 42431993 C T SNP COX7A2L NM_004718 human genbank 54_36p -1 reviewed missense c.215 p.G72D 0.981 superfamily_Mitochondrial cytochrome c oxidase subunit VIIa,HMMPfam_COX7a superfamily_Mitochondrial cytochrome c oxidase subunit VIIa,HMMPfam_COX7a - no_errors RNF220 55182 genome.wustl.edu 36 1 44650973 44650973 + Missense_Mutation SNP A A T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 44650973 44650973 A T SNP RNF220 NM_018150 human genbank 54_36p +1 validated missense c.617 p.N206I 1.000 NULL superfamily_RING/U-box - no_errors KIAA0494 9813 genome.wustl.edu 36 1 46916789 46916789 + Missense_Mutation SNP C C A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 46916789 46916789 C A SNP KIAA0494 NM_014774 human genbank 54_36p -1 validated missense c.1419 p.L473F 0.031 NULL PatternScan_EF_HAND_1 - no_errors UBA1 7317 genome.wustl.edu 36 X 46959219 46959219 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b X 46959219 46959219 G A SNP UBA1 NM_003334 human genbank 54_36p +1 reviewed missense c.3124 p.D1042N 1.000 HMMPfam_UBA_e1_C superfamily_MoeB,HMMPfam_ThiF,PatternScan_UBIQUITIN_ACTIVAT_1,HMMPfam_UBA_e1_thiolCys,PatternScan_UBIQUITIN_ACTIVAT_2,HMMPfam_UBACT,HMMPfam_UBA_e1_C - no_errors ARHGEF1 9138 genome.wustl.edu 36 19 47101183 47101183 + Missense_Mutation SNP A A C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 19 47101183 47101183 A C SNP ARHGEF1 NM_199002 human genbank 54_36p +1 reviewed missense c.2311 p.T771P 0.980 superfamily_SSF50729,HMMSmart_PH HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMSmart_PH - no_errors STIL 6491 genome.wustl.edu 36 1 47489770 47489770 + Missense_Mutation SNP C C G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 47489770 47489770 C G SNP STIL NM_001048166 human genbank 54_36p -1 reviewed missense c.3492 p.Q1164H 0.000 NULL NULL - no_errors PSG3 5671 genome.wustl.edu 36 19 47925283 47925283 + Missense_Mutation SNP T T G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 19 47925283 47925283 T G SNP PSG3 NM_021016 human genbank 54_36p -1 validated missense c.1075 p.N359H 0.375 superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2 - no_errors OR4A47 403253 genome.wustl.edu 36 11 48467584 48467584 + Missense_Mutation SNP T T C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 11 48467584 48467584 T C SNP OR4A47 NM_001005512 human genbank 54_36p +1 validated missense c.664 p.S222P 0.054 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors SLC5A9 200010 genome.wustl.edu 36 1 48476054 48476054 + Missense_Mutation SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 48476054 48476054 C T SNP SLC5A9 NM_001011547 human genbank 54_36p +1 validated missense c.1463 p.P488L 1.000 HMMPfam_SSF HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1 - no_errors COL7A1 1294 genome.wustl.edu 36 3 48579111 48579111 + Missense_Mutation SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 3 48579111 48579111 C T SNP COL7A1 NM_000094 human genbank 54_36p -1 reviewed missense c.8290 p.E2764K 1.000 HMMPfam_Collagen superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III,HMMPfam_Collagen,superfamily_BPTI-like,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1 - no_errors RHAG 6005 genome.wustl.edu 36 6 49691409 49691409 + Missense_Mutation SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 6 49691409 49691409 G T SNP RHAG NM_000324 human genbank 54_36p -1 reviewed missense c.527 p.A176D 1.000 HMMPfam_Ammonium_transp,superfamily_RH_like_transpt HMMPfam_Ammonium_transp,superfamily_RH_like_transpt - no_errors HOXC11 3227 genome.wustl.edu 36 12 52653962 52653962 + Missense_Mutation SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 12 52653962 52653962 G C SNP HOXC11 NM_014212 human genbank 54_36p +1 reviewed missense c.670 p.G224R 1.000 superfamily_Homeodomain-like superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors GPR84 53831 genome.wustl.edu 36 12 53042901 53042901 + Silent SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 12 53042901 53042901 G T SNP GPR84 NM_020370 human genbank 54_36p -1 provisional silent c.1002 p.P334 0.990 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors ITIH5L 347365 genome.wustl.edu 36 X 54801681 54801681 + Silent SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b X 54801681 54801681 G A SNP ITIH5L NM_198510 human genbank 54_36p -1 provisional silent c.1551 p.G517 0.474 NULL HMMSmart_VIT,HMMPfam_VIT,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_ITI_HC_C - no_errors HCRTR2 3062 genome.wustl.edu 36 6 55147443 55147443 + Missense_Mutation SNP C C G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 6 55147443 55147443 C G SNP HCRTR2 NM_001526 human genbank 54_36p +1 reviewed missense c.99 p.D33E 0.773 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,HMMPfam_Orexin_rec2 - no_errors ANKRD55 79722 genome.wustl.edu 36 5 55475477 55475477 + Missense_Mutation SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 5 55475477 55475477 G C SNP ANKRD55 NM_024669 human genbank 54_36p -1 validated missense c.520 p.Q174E 1.000 superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors LRP1 4035 genome.wustl.edu 36 12 55886771 55886771 + Missense_Mutation SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 12 55886771 55886771 C T SNP LRP1 NM_002332 human genbank 54_36p +1 validated missense c.11839 p.R3947W 0.782 superfamily_YWTD domain,HMMPfam_Ldl_recept_b 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 GLI1 2735 genome.wustl.edu 36 12 56148213 56148213 + Missense_Mutation SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 12 56148213 56148213 G C SNP GLI1 NM_005269 human genbank 54_36p +1 reviewed missense c.1247 p.R416T 0.849 NULL superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors KIFC3 3801 genome.wustl.edu 36 16 56358315 56358315 + Missense_Mutation SNP C C G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 16 56358315 56358315 C G SNP KIFC3 NM_005550 human genbank 54_36p -1 validated missense c.1302 p.K434N 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1 - no_errors OS9 10956 genome.wustl.edu 36 12 56400470 56400470 + Missense_Mutation SNP A A C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 12 56400470 56400470 A C SNP OS9 NM_006812 human genbank 54_36p +1 reviewed missense c.1780 p.K594Q 1.000 NULL HMMPfam_PRKCSH,superfamily_Mannose 6-phosphate receptor domain - no_errors SSRP1 6749 genome.wustl.edu 36 11 56852355 56852355 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 11 56852355 56852355 G A SNP SSRP1 NM_003146 human genbank 54_36p -1 reviewed missense c.1603 p.P535S 0.987 NULL HMMPfam_SSrecog,superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box - no_errors B3GAT3 26229 genome.wustl.edu 36 11 62144703 62144703 + Nonsense_Mutation SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 11 62144703 62144703 G T SNP B3GAT3 NM_012200 human genbank 54_36p -1 reviewed nonsense c.99 p.C33* 1.000 NULL superfamily_SSF53448,HMMPfam_Glyco_transf_43 - no_errors NPBWR2 2832 genome.wustl.edu 36 20 62207941 62207941 + Missense_Mutation SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 20 62207941 62207941 C T SNP NPBWR2 NM_005286 human genbank 54_36p -1 reviewed missense c.688 p.V230M 0.999 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 MTMR8 55613 genome.wustl.edu 36 X 63468324 63468324 + Missense_Mutation SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b X 63468324 63468324 G T SNP MTMR8 NM_017677 human genbank 54_36p -1 provisional missense c.1190 p.P397H 1.000 superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00404 superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors SERTAD2 9792 genome.wustl.edu 36 2 64717131 64717131 + Nonsense_Mutation SNP C C A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 2 64717131 64717131 C A SNP SERTAD2 NM_014755 human genbank 54_36p -1 validated nonsense c.379 p.E127* 1.000 NULL HMMPfam_SERTA - no_errors GUSB 2990 genome.wustl.edu 36 7 65070326 65070326 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 7 65070326 65070326 G A SNP GUSB NM_000181 human genbank 54_36p -1 validated missense c.1480 p.P494S 0.999 HMMPfam_Glyco_hydro_2_C,superfamily_(Trans)glycosidases superfamily_Galactose-binding domain-like,HMMPfam_Glyco_hydro_2_N,HMMPfam_Glyco_hydro_2,superfamily_beta-Galactosidase/glucuronidase domain,HMMPfam_Glyco_hydro_2_C,superfamily_(Trans)glycosidases,PatternScan_GLYCOSYL_HYDROL_F2_1,PatternScan_GLYCOSYL_HYDROL_F2_2 - no_errors ASL 435 genome.wustl.edu 36 7 65184305 65184305 + Silent SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 7 65184305 65184305 C T SNP ASL NM_000048 human genbank 54_36p +1 reviewed silent c.93 p.D31 1.000 HMMPfam_Lyase_1,superfamily_L-Aspartase-like HMMPfam_Lyase_1,superfamily_L-Aspartase-like,PatternScan_FUMARATE_LYASES - no_errors HEPH 9843 genome.wustl.edu 36 X 65309120 65309120 + Silent SNP C C G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b X 65309120 65309120 C G SNP HEPH NM_138737 human genbank 54_36p +1 provisional silent c.366 p.P122 0.787 superfamily_Cupredoxins superfamily_Cupredoxins,HMMPfam_Cu-oxidase,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_Cu-oxidase_3,HMMPfam_Cu-oxidase_2,PatternScan_MULTICOPPER_OXIDASE2 - no_errors BRMS1 25855 genome.wustl.edu 36 11 65864853 65864853 + Missense_Mutation SNP T T G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 11 65864853 65864853 T G SNP BRMS1 NM_001024957 human genbank 54_36p -1 reviewed missense c.503 p.E168A 1.000 HMMPfam_Sds3 HMMPfam_Sds3 - no_errors AR 367 genome.wustl.edu 36 X 66860374 66860374 + Missense_Mutation SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b X 66860374 66860374 G T SNP AR NM_000044 human genbank 54_36p +1 reviewed missense c.2729 p.G910V 1.000 superfamily_Nuclear receptor ligand-binding domain HMMPfam_Androgen_recep,HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep - no_errors C11orf72 283135 genome.wustl.edu 36 11 67128758 67128758 + Missense_Mutation SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 11 67128758 67128758 G C SNP C11orf72 ENST00000333139 human ensembl 54_36p -1 known missense c.359 p.S120C 0.003 NULL NULL - no_errors YIPF6 286451 genome.wustl.edu 36 X 67648506 67648506 + Missense_Mutation SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b X 67648506 67648506 G C SNP YIPF6 NM_173834 human genbank 54_36p +1 provisional missense c.148 p.D50H 1.000 NULL HMMPfam_Yip1 - no_errors THAP10 56906 genome.wustl.edu 36 15 68971316 68971316 + Missense_Mutation SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 15 68971316 68971316 G T SNP THAP10 NM_020147 human genbank 54_36p -1 provisional missense c.350 p.A117E 0.010 NULL HMMPfam_THAP,HMMSmart_SM00692 - no_errors TSHZ1 10194 genome.wustl.edu 36 18 71127141 71127141 + Missense_Mutation SNP A A G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 18 71127141 71127141 A G SNP TSHZ1 NM_005786 human genbank 54_36p +1 reviewed missense c.656 p.H219R 1.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00389,HMMPfam_Homeobox - no_errors ZNF638 27332 genome.wustl.edu 36 2 71446184 71446184 + Missense_Mutation SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 2 71446184 71446184 C T SNP ZNF638 NM_001014972 human genbank 54_36p +1 reviewed missense c.1835 p.T612I 0.159 NULL HMMSmart_SM00451,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors PGM2L1 283209 genome.wustl.edu 36 11 73731246 73731246 + Nonsense_Mutation SNP T T A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 11 73731246 73731246 T A SNP PGM2L1 NM_173582 human genbank 54_36p -1 validated nonsense c.1540 p.K514* 0.998 superfamily_Phosphoglucomutase C-terminal domain superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_I,HMMPfam_PGM_PMM_II,superfamily_Phosphoglucomutase C-terminal domain - no_errors CTRB1 1504 genome.wustl.edu 36 16 73816121 73816121 + Silent SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 16 73816121 73816121 C T SNP CTRB1 NM_001906 human genbank 54_36p +1 validated silent c.648 p.P216 0.998 superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_SER superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors MSH4 4438 genome.wustl.edu 36 1 76137891 76137891 + Missense_Mutation SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 76137891 76137891 G C SNP MSH4 NM_002440 human genbank 54_36p +1 validated missense c.2531 p.G844A 1.000 HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac superfamily_DNA_mismatch_repair_MutS_connt,HMMPfam_MutS_II,HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2 - no_errors CAPN5 726 genome.wustl.edu 36 11 76506999 76506999 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 11 76506999 76506999 G A SNP CAPN5 NM_004055 human genbank 54_36p +1 reviewed missense c.1120 p.G374S 0.995 HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2 PatternScan_THIOL_PROTEASE_HIS,PatternScan_THIOL_PROTEASE_ASN,superfamily_SSF54001,HMMSmart_CysPc,HMMPfam_Peptidase_C2,PatternScan_THIOL_PROTEASE_CYS,HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors WDFY3 23001 genome.wustl.edu 36 4 85915094 85915094 + Missense_Mutation SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 4 85915094 85915094 G C SNP WDFY3 NM_014991 human genbank 54_36p -1 reviewed missense c.4657 p.L1553V 1.000 NULL superfamily_ARM repeat,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cyclin-like,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger - no_errors ABCB4 5244 genome.wustl.edu 36 7 86914322 86914322 + Silent SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 7 86914322 86914322 G C SNP ABCB4 NM_018849 human genbank 54_36p -1 reviewed silent c.969 p.V323 0.986 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors ABCG2 9429 genome.wustl.edu 36 4 89261897 89261897 + Silent SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 4 89261897 89261897 G T SNP ABCG2 NM_004827 human genbank 54_36p -1 reviewed silent c.603 p.I201 0.998 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,HMMPfam_ABC2_membrane - no_errors HERC3 8916 genome.wustl.edu 36 4 89796108 89796108 + Missense_Mutation SNP C C G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 4 89796108 89796108 C G SNP HERC3 NM_014606 human genbank 54_36p +1 provisional missense c.968 p.A323G 0.955 superfamily_RCC1/BLIP-II superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors GABRR2 2570 genome.wustl.edu 36 6 90024408 90024408 + Missense_Mutation SNP C C G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 6 90024408 90024408 C G SNP GABRR2 NM_002043 human genbank 54_36p -1 reviewed missense c.1173 p.M391I 0.981 superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb - no_errors NR2F1 7025 genome.wustl.edu 36 5 92955146 92955146 + Silent SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 5 92955146 92955146 C T SNP NR2F1 NM_005654 human genbank 54_36p +1 provisional silent c.1114 p.L372 1.000 superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMPfam_zf-C4_C,HMMSmart_HOLI,HMMPfam_Hormone_recep - no_errors ABCA4 24 genome.wustl.edu 36 1 94301435 94301435 + Silent SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 94301435 94301435 G A SNP ABCA4 NM_000350 human genbank 54_36p -1 reviewed silent c.1581 p.S527 0.255 NULL superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors ENSG00000187984 0 genome.wustl.edu 36 2 94883043 94883043 + Missense_Mutation SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 2 94883043 94883043 G C SNP ENSG00000187984 ENST00000338192 human ensembl 54_36p -1 known missense c.288 p.I96M 0.714 superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248 - no_start_codon:no_stop_codon RHOBTB3 22836 genome.wustl.edu 36 5 95093420 95093420 + Missense_Mutation SNP T T C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 5 95093420 95093420 T C SNP RHOBTB3 NM_014899 human genbank 54_36p +1 validated missense c.104 p.V35A 0.992 NULL superfamily_SSF52540,HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB - no_errors LMTK2 22853 genome.wustl.edu 36 7 97604653 97604653 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 7 97604653 97604653 G A SNP LMTK2 NM_014916 human genbank 54_36p +1 validated missense c.194 p.C65Y 1.000 NULL superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors ALDH1A3 220 genome.wustl.edu 36 15 99237734 99237734 + Missense_Mutation SNP G C C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 15 99237734 99237734 G C SNP ALDH1A3 NM_000693 human genbank 54_36p +1 reviewed missense c.99 p.K33N 1.000 superfamily_Aldehyde_DH/Histidinol_DH superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS - no_errors C7orf43 55262 genome.wustl.edu 36 7 99591401 99591401 + Silent SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 7 99591401 99591401 G C SNP C7orf43 ENST00000275726 human ensembl 54_36p -1 known silent c.102 p.S34 0.000 NULL NULL - no_errors MUC12 10071 genome.wustl.edu 36 7 100429252 100429252 + Silent SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 7 100429252 100429252 G A SNP MUC12 ENST00000379442 human ensembl 54_36p +1 known silent c.2100 p.A700 0.000 NULL NULL - no_start_codon:no_stop_codon COL15A1 1306 genome.wustl.edu 36 9 100838282 100838282 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 9 100838282 100838282 G A SNP COL15A1 NM_001855 human genbank 54_36p +1 reviewed missense c.2299 p.G767R 1.000 NULL superfamily_ConA_like_lec_gl,HMMSmart_TSPN,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,superfamily_C-type_lectin_fold,HMMPfam_Endostatin - no_errors TRPC6 7225 genome.wustl.edu 36 11 100867601 100867601 + Missense_Mutation SNP C C G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 11 100867601 100867601 C G SNP TRPC6 NM_004621 human genbank 54_36p -1 reviewed missense c.1024 p.V342L 1.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_TRP_2,HMMPfam_Ion_trans - no_errors NOLC1 9221 genome.wustl.edu 36 10 103902197 103902197 + Missense_Mutation SNP C C A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 10 103902197 103902197 C A SNP NOLC1 NM_004741 human genbank 54_36p +1 validated missense c.40 p.L14M 1.000 NULL HMMPfam_SRP40_C - no_errors ACAT1 38 genome.wustl.edu 36 11 107518511 107518511 + Missense_Mutation SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 11 107518511 107518511 C T SNP ACAT1 ENST00000375674 human ensembl 54_36p +1 known missense c.859 p.H287Y 0.358 NULL superfamily_Thiolase-like,HMMPfam_Thiolase_N - no_errors SSH1 54434 genome.wustl.edu 36 12 107706333 107706333 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 12 107706333 107706333 G A SNP SSH1 NM_018984 human genbank 54_36p -1 provisional missense c.2710 p.R904C 0.047 NULL superfamily_DEK C-terminal domain,HMMPfam_DEK_C,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,PatternScan_TYR_PHOSPHATASE_1 - no_errors CELSR2 1952 genome.wustl.edu 36 1 109605997 109605997 + Missense_Mutation SNP A A C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 109605997 109605997 A C SNP CELSR2 NM_001408 human genbank 54_36p +1 reviewed missense c.4342 p.S1448R 1.000 superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2 PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF_CA,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,PatternScan_ASX_HYDROXYL,HMMSmart_TNFR,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMSmart_HormR,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2 - no_errors FIG4 9896 genome.wustl.edu 36 6 110166339 110166339 + Missense_Mutation SNP T T G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 6 110166339 110166339 T G SNP FIG4 NM_014845 human genbank 54_36p +1 reviewed missense c.765 p.C255W 1.000 HMMPfam_Syja_N HMMPfam_Syja_N - no_errors MORC1 27136 genome.wustl.edu 36 3 110300951 110300951 + Missense_Mutation SNP T T A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 3 110300951 110300951 T A SNP MORC1 NM_014429 human genbank 54_36p -1 reviewed missense c.367 p.T123S 0.996 superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,HMMPfam_zf-CW - no_errors SMC3 9126 genome.wustl.edu 36 10 112333283 112333283 + Missense_Mutation SNP A A G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 10 112333283 112333283 A G SNP SMC3 NM_005445 human genbank 54_36p +1 reviewed missense c.956 p.N319S 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N,superfamily_BAG domain superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N,superfamily_BAG domain,superfamily_Smc hinge domain,HMMPfam_SMC_hinge,PatternScan_ABC_TRANSPORTER_1 - no_errors CSDE1 7812 genome.wustl.edu 36 1 115084017 115084017 + Silent SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 115084017 115084017 G A SNP CSDE1 NM_001007553 human genbank 54_36p -1 validated silent c.18 p.N6 1.000 NULL superfamily_Nucleic acid-binding proteins,HMMPfam_CSD,HMMSmart_SM00357,PatternScan_COLD_SHOCK,PatternScan_PEROXIDASE_2 - no_errors LOC653303 653303 genome.wustl.edu 36 11 116514224 116514224 + Missense_Mutation SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 11 116514224 116514224 G C SNP LOC653303 XM_938842 human genbank 54_36p +1 model missense c.540 p.Q180H 0.995 NULL superfamily_Galactose-binding domain-like,HMMPfam_P_proprotein - no_start_codon:pseudogene TNC 3371 genome.wustl.edu 36 9 116848738 116848738 + Missense_Mutation SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 9 116848738 116848738 G T SNP TNC NM_002160 human genbank 54_36p -1 validated missense c.4897 p.P1633T 1.000 HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF,HMMPfam_EGF_2,HMMPfam_EGF,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMSmart_FBG,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen_a/b/g_C - no_errors LSAMP 4045 genome.wustl.edu 36 3 117044059 117044059 + Missense_Mutation SNP A A T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 3 117044059 117044059 A T SNP LSAMP NM_002338 human genbank 54_36p -1 reviewed missense c.706 p.S236T 0.688 superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMPfam_I-set,HMMSmart_IGc2 - no_errors SCN2B 6327 genome.wustl.edu 36 11 117552312 117552312 + Silent SNP C C A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 11 117552312 117552312 C A SNP SCN2B NM_004588 human genbank 54_36p -1 validated silent c.45 p.T15 1.000 NULL HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409 - no_errors CCDC60 160777 genome.wustl.edu 36 12 118445911 118445911 + Nonsense_Mutation SNP C C G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 12 118445911 118445911 C G SNP CCDC60 NM_178499 human genbank 54_36p +1 validated nonsense c.1134 p.Y378* 0.112 NULL NULL - no_errors RHOXF2 84528 genome.wustl.edu 36 X 119177055 119177055 + Silent SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b X 119177055 119177055 G A SNP RHOXF2 NM_032498 human genbank 54_36p +1 provisional silent c.186 p.S62 0.000 NULL superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors PTPN4 5775 genome.wustl.edu 36 2 120439585 120439585 + Missense_Mutation SNP T T C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 2 120439585 120439585 T C SNP PTPN4 NM_002830 human genbank 54_36p +1 reviewed missense c.2452 p.W818R 1.000 superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C,HMMPfam_FA,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase,PatternScan_TYR_PHOSPHATASE_1 - no_errors FABP7 2173 genome.wustl.edu 36 6 123144004 123144004 + Missense_Mutation SNP T T A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 6 123144004 123144004 T A SNP FABP7 NM_001446 human genbank 54_36p +1 reviewed missense c.314 p.F105Y 1.000 superfamily_Lipocalins,HMMPfam_Lipocalin superfamily_Lipocalins,HMMPfam_Lipocalin,PatternScan_FABP - no_errors AK1 203 genome.wustl.edu 36 9 129670463 129670463 + Silent SNP T T C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 9 129670463 129670463 T C SNP AK1 NM_000476 human genbank 54_36p -1 reviewed silent c.474 p.E158 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ADK superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ADK,PatternScan_ADENYLATE_KINASE - no_errors ENPP3 5169 genome.wustl.edu 36 6 132089004 132089004 + Missense_Mutation SNP A A T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 6 132089004 132089004 A T SNP ENPP3 NM_005021 human genbank 54_36p +1 reviewed missense c.1924 p.M642L 0.979 superfamily_SSF54060,HMMSmart_NUC HMMSmart_SO,HMMPfam_Somatomedin_B,superfamily_SSF90188,PatternScan_SMB_1,superfamily_Alkaline_phosphatase_core,HMMPfam_Phosphodiest,superfamily_SSF54060,HMMSmart_NUC - no_errors TG 7038 genome.wustl.edu 36 8 133968592 133968592 + Missense_Mutation SNP T T G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 8 133968592 133968592 T G SNP TG NM_003235 human genbank 54_36p +1 validated missense c.1793 p.V598G 0.740 NULL superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_TNF receptor-like,HMMPfam_GCC2_GCC3,HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2 - no_errors RAB3GAP1 22930 genome.wustl.edu 36 2 135624525 135624525 + Silent SNP C T T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 2 135624525 135624525 C T SNP RAB3GAP1 NM_012233 human genbank 54_36p +1 validated silent c.2040 p.L680 1.000 NULL NULL - no_errors MATR3 9782 genome.wustl.edu 36 5 138671650 138671650 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 5 138671650 138671650 G A SNP MATR3 NM_018834 human genbank 54_36p +1 reviewed missense c.647 p.R216K 1.000 NULL HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2,HMMSmart_RRM,superfamily_SSF54928 - no_errors PCDHAC2 56134 genome.wustl.edu 36 5 140326544 140326544 + Missense_Mutation SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 5 140326544 140326544 G T SNP PCDHAC2 NM_018899 human genbank 54_36p +1 reviewed missense c.9 p.Q3H 0.991 NULL HMMSmart_SM00112,superfamily_Cadherin-like,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors PCDHB14 56122 genome.wustl.edu 36 5 140585097 140585097 + Silent SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 5 140585097 140585097 C T SNP PCDHB14 NM_018934 human genbank 54_36p +1 reviewed silent c.1836 p.P612 0.814 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA - no_errors MIRN890 0 genome.wustl.edu 36 X 144883550 144883550 + RNA SNP T T A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b X 144883550 144883550 T A SNP MIRN890 ENST00000401256 human ensembl 54_36p -1 known rna NULL NULL 0.001 - - - no_errors SHE 126669 genome.wustl.edu 36 1 152725155 152725155 + Missense_Mutation SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 152725155 152725155 G C SNP SHE NM_001010846 human genbank 54_36p -1 provisional missense c.1189 p.H397D 1.000 superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2 superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2 - no_errors SHOX2 6474 genome.wustl.edu 36 3 159303330 159303330 + Missense_Mutation SNP C C G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 3 159303330 159303330 C G SNP SHOX2 NM_006884 human genbank 54_36p -1 validated missense c.386 p.G129A 1.000 NULL superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_OAR - no_errors SCN3A 6328 genome.wustl.edu 36 2 165655603 165655603 + Missense_Mutation SNP A A T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 2 165655603 165655603 A T SNP SCN3A NM_006922 human genbank 54_36p -1 reviewed missense c.5306 p.V1769D 1.000 superfamily_SSF81324,HMMPfam_Ion_trans superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ - no_errors ZBTB37 84614 genome.wustl.edu 36 1 172109330 172109330 + Silent SNP A A G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 172109330 172109330 A G SNP ZBTB37 NM_032522 human genbank 54_36p +1 provisional silent c.1026 p.V342 1.000 NULL superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB - no_errors SLC25A12 8604 genome.wustl.edu 36 2 172356338 172356338 + Missense_Mutation SNP T T G novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 2 172356338 172356338 T G SNP SLC25A12 NM_003705 human genbank 54_36p -1 reviewed missense c.1454 p.K485T 1.000 superfamily_Mitoch_carrier,HMMPfam_Mito_carr superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,superfamily_Mitoch_carrier,HMMPfam_Mito_carr - no_errors RNASEL 6041 genome.wustl.edu 36 1 180812075 180812075 + Missense_Mutation SNP C C A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 180812075 180812075 C A SNP RNASEL NM_021133 human genbank 54_36p -1 reviewed missense c.1978 p.G660C 0.733 HMMPfam_Ribonuc_2-5A,HMMSmart_SM00580 superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Ribonuc_2-5A,HMMSmart_SM00580 - no_errors PIGR 5284 genome.wustl.edu 36 1 205179213 205179213 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 205179213 205179213 G A SNP PIGR NM_002644 human genbank 54_36p -1 provisional missense c.262 p.P88S 1.000 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG - no_errors LOC402116 402116 genome.wustl.edu 36 2 209753631 209753631 + RNA SNP T C C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 2 209753631 209753631 T C SNP LOC402116 XR_017081 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene MAP2 4133 genome.wustl.edu 36 2 210277588 210277588 + Missense_Mutation SNP A A T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 2 210277588 210277588 A T SNP MAP2 NM_001039538 human genbank 54_36p +1 reviewed missense c.686 p.K229M 1.000 NULL HMMPfam_RII_binding_1,HMMPfam_Tubulin-binding,PatternScan_TAU_MAP - no_errors USH2A 7399 genome.wustl.edu 36 1 213880576 213880576 + Missense_Mutation SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 213880576 213880576 C T SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.14915 p.R4972H 0.988 NULL superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,PatternScan_EGF_1,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00282,HMMPfam_Laminin_G_2 - no_errors CHPF 79586 genome.wustl.edu 36 2 220113937 220113937 + Missense_Mutation SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 2 220113937 220113937 G A SNP CHPF NM_024536 human genbank 54_36p -1 validated missense c.1043 p.T348M 0.988 HMMPfam_CHGN HMMPfam_CHGN - no_errors DISP1 84976 genome.wustl.edu 36 1 221244999 221244999 + Missense_Mutation SNP A C C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 221244999 221244999 A C SNP DISP1 NM_032890 human genbank 54_36p +1 reviewed missense c.3637 p.T1213P 0.994 NULL HMMPfam_Patched,superfamily_SSF82866 - no_errors PARP1 142 genome.wustl.edu 36 1 224618358 224618358 + Missense_Mutation SNP C C T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 224618358 224618358 C T SNP PARP1 NM_001618 human genbank 54_36p -1 reviewed missense c.2695 p.D899N 1.000 HMMPfam_PARP,superfamily_ADP-ribosylation superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_zf-PARP,PatternScan_PARP_ZN_FINGER_1,HMMPfam_PADR1,superfamily_BRCT domain,HMMPfam_BRCT,HMMSmart_SM00292,HMMPfam_WGR,HMMSmart_SM00773,HMMPfam_PARP_reg,superfamily_Domain of poly(ADP-ribose) polymerase,HMMPfam_PARP,superfamily_ADP-ribosylation - no_errors PSMD1 5707 genome.wustl.edu 36 2 231634254 231634254 + Nonsense_Mutation SNP G G T novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 2 231634254 231634254 G T SNP PSMD1 NM_002807 human genbank 54_36p +1 reviewed nonsense c.46 p.E16* 1.000 NULL HMMPfam_PC_rep,superfamily_ARM repeat - no_errors NLRP3 114548 genome.wustl.edu 36 1 245654427 245654427 + Silent SNP G G A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 245654427 245654427 G A SNP NLRP3 NM_001079821 human genbank 54_36p +1 reviewed silent c.1059 p.V353 0.031 HMMPfam_NACHT superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMSmart_LRR_RI,HMMPfam_LRR_1 - no_errors OR13G1 441933 genome.wustl.edu 36 1 245902281 245902281 + Missense_Mutation SNP T T A novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 245902281 245902281 T A SNP OR13G1 NM_001005487 human genbank 54_36p -1 provisional missense c.686 p.E229V 0.000 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors OR2T12 127064 genome.wustl.edu 36 1 246525453 246525453 + Missense_Mutation SNP G G C novel unknown TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 02c1e018-543e-49fe-a55c-57846df082ac 55963811-0c02-4069-8d15-694e0405b70b 1 246525453 246525453 G C SNP OR2T12 NM_001004692 human genbank 54_36p -1 provisional missense c.51 p.N17K 0.001 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors