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-CO3 4514 genome.wustl.edu 36 MT 9413 9413 + Missense_Mutation SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 MT 9413 9413 G A SNP MT-CO3 ENST00000362079 human ensembl 54_36p +1 known missense c.206 p.G69D NULL superfamily_CytC_oxdse_III,HMMPfam_COX3 superfamily_CytC_oxdse_III,HMMPfam_COX3 - no_stop_codon:bad_bp_length_for_coding_region STUB1 10273 genome.wustl.edu 36 16 671187 671187 + Missense_Mutation SNP A A T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 16 671187 671187 A T SNP STUB1 NM_005861 human genbank 54_36p +1 validated missense c.194 p.N65I 1.000 superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028 HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like,superfamily_RING/U-box,HMMPfam_U-box,HMMSmart_SM00504 - no_errors GPER 2852 genome.wustl.edu 36 7 1098937 1098937 + Silent SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 7 1098937 1098937 C T SNP GPER NM_001039966 human genbank 54_36p +1 reviewed silent c.1047 p.N349 0.992 NULL superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors KLF16 83855 genome.wustl.edu 36 19 1805633 1805633 + Missense_Mutation SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 19 1805633 1805633 C T SNP KLF16 NM_031918 human genbank 54_36p -1 validated missense c.584 p.R195H 1.000 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667 - no_errors NOXO1 124056 genome.wustl.edu 36 16 1970432 1970432 + Missense_Mutation SNP G G C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 16 1970432 1970432 G C SNP NOXO1 NM_172168 human genbank 54_36p -1 provisional missense c.353 p.P118R 0.000 superfamily_PX domain superfamily_PX domain,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_errors DHRSX 207063 genome.wustl.edu 36 X 2171118 2171118 + Missense_Mutation SNP G G C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 X 2171118 2171118 G C SNP DHRSX NM_145177 human genbank 54_36p -1 validated missense c.750 p.H250Q 1.000 superfamily_NAD(P)-bd superfamily_NAD(P)-bd,HMMPfam_adh_short,PatternScan_ADH_SHORT - no_errors C20orf141 128653 genome.wustl.edu 36 20 2744199 2744199 + Silent SNP T T A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 20 2744199 2744199 T A SNP C20orf141 NM_080739 human genbank 54_36p +1 validated silent c.276 p.T92 0.001 NULL NULL - no_errors TRPV3 162514 genome.wustl.edu 36 17 3393581 3393581 + Missense_Mutation SNP A A T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 17 3393581 3393581 A T SNP TRPV3 NM_145068 human genbank 54_36p -1 reviewed missense c.403 p.L135M 0.978 superfamily_Ankyrin repeat superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans - no_errors AKAP3 10566 genome.wustl.edu 36 12 4606694 4606694 + Missense_Mutation SNP C C A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 12 4606694 4606694 C A SNP AKAP3 NM_006422 human genbank 54_36p -1 reviewed missense c.1635 p.R545S 0.984 HMMSmart_SM00807,HMMPfam_AKAP_110 HMMSmart_SM00807,HMMPfam_RII_binding_1,HMMPfam_AKAP_110 - no_errors ASB13 79754 genome.wustl.edu 36 10 5722772 5722772 + Missense_Mutation SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 10 5722772 5722772 C T SNP ASB13 NM_024701 human genbank 54_36p -1 reviewed missense c.737 p.C246Y 1.000 HMMPfam_SOCS_box HMMSmart_SM00248,HMMPfam_Ank,superfamily_Ankyrin repeat,HMMPfam_SOCS_box - no_errors MCM8 84515 genome.wustl.edu 36 20 5891981 5891981 + Missense_Mutation SNP T T G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 20 5891981 5891981 T G SNP MCM8 NM_032485 human genbank 54_36p +1 reviewed missense c.851 p.V284G 0.151 superfamily_Nucleic acid-binding proteins,HMMSmart_SM00350 superfamily_Nucleic acid-binding proteins,HMMSmart_SM00350,HMMPfam_MCM,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382 - no_errors WFS1 7466 genome.wustl.edu 36 4 6347795 6347795 + Missense_Mutation SNP A A G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 4 6347795 6347795 A G SNP WFS1 NM_006005 human genbank 54_36p +1 reviewed missense c.839 p.E280G 1.000 NULL NULL - no_errors TP53 7157 genome.wustl.edu 36 17 7518293 7518293 + Missense_Mutation SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 17 7518293 7518293 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.713 p.C238Y 1.000 HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53 HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors ITIH5 80760 genome.wustl.edu 36 10 7722783 7722783 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 10 7722783 7722783 C G SNP ITIH5 NM_030569 human genbank 54_36p -1 validated missense c.341 p.R114T 0.499 HMMSmart_SM00609,HMMPfam_VIT HMMSmart_SM00609,HMMPfam_VIT,HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_ITI_HC_C - no_errors PTPRM 5797 genome.wustl.edu 36 18 7878115 7878115 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 18 7878115 7878115 C G SNP PTPRM NM_001105244 human genbank 54_36p +1 reviewed missense c.208 p.L70V 0.977 HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1 HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors MYH4 4622 genome.wustl.edu 36 17 10309561 10309561 + Missense_Mutation SNP T T A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 17 10309561 10309561 T A SNP MYH4 NM_017533 human genbank 54_36p -1 validated missense c.428 p.Y143F 1.000 superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_Myosin_tail_1 - no_errors GCM2 9247 genome.wustl.edu 36 6 10983126 10983126 + Silent SNP A A G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 6 10983126 10983126 A G SNP GCM2 NM_004752 human genbank 54_36p -1 reviewed silent c.609 p.G203 0.314 NULL superfamily_GCM_motif,HMMPfam_GCM - no_errors SLC6A1 6529 genome.wustl.edu 36 3 11034642 11034642 + Missense_Mutation SNP C C A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 3 11034642 11034642 C A SNP SLC6A1 NM_003042 human genbank 54_36p +1 validated missense c.352 p.L118M 0.998 HMMPfam_SNF HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2 - no_errors CLCN6 1185 genome.wustl.edu 36 1 11802179 11802179 + Missense_Mutation SNP G G C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 11802179 11802179 G C SNP CLCN6 NM_001286 human genbank 54_36p +1 reviewed missense c.327 p.K109N 1.000 superfamily_Clc chloride channel superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS,HMMSmart_SM00116 - no_errors SF4 57794 genome.wustl.edu 36 19 19275218 19275218 + Nonsense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 19 19275218 19275218 G T SNP SF4 NM_172231 human genbank 54_36p -1 validated nonsense c.702 p.Y234* 1.000 superfamily_Surp module (SWAP domain Pfam 01805),HMMSmart_SM00648,HMMPfam_Surp superfamily_Surp module (SWAP domain Pfam 01805),HMMSmart_SM00648,HMMPfam_Surp,HMMSmart_SM00443,HMMPfam_G-patch - no_errors LAMA3 3909 genome.wustl.edu 36 18 19748778 19748778 + Missense_Mutation SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 18 19748778 19748778 G A SNP LAMA3 NM_198129 human genbank 54_36p +1 reviewed missense c.7600 p.E2534K 0.981 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282 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 MYH6 4624 genome.wustl.edu 36 14 22937846 22937846 + Missense_Mutation SNP C C A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 14 22937846 22937846 C A SNP MYH6 NM_002471 human genbank 54_36p -1 validated missense c.1822 p.A608S 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,superfamily_Prefoldin,HMMPfam_Myosin_tail_1 - no_errors SUPT6H 6830 genome.wustl.edu 36 17 24027528 24027528 + Missense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 17 24027528 24027528 G T SNP SUPT6H NM_003170 human genbank 54_36p +1 validated missense c.850 p.D284Y 1.000 NULL HMMPfam_Tex_N,HMMSmart_SM00732,superfamily_Nucleic acid-binding proteins,HMMSmart_SM00316,HMMPfam_S1,superfamily_SH2 domain,HMMSmart_SM00252 - no_errors CRYBA1 1411 genome.wustl.edu 36 17 24601442 24601442 + Silent SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 17 24601442 24601442 C T SNP CRYBA1 NM_005208 human genbank 54_36p +1 reviewed silent c.213 p.G71 1.000 superfamily_gamma-Crystallin-like,HMMPfam_Crystall,HMMSmart_SM00247 superfamily_gamma-Crystallin-like,HMMPfam_Crystall,HMMSmart_SM00247 - no_errors MAGEB6 158809 genome.wustl.edu 36 X 26122090 26122090 + Missense_Mutation SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 X 26122090 26122090 C T SNP MAGEB6 NM_173523 human genbank 54_36p +1 reviewed missense c.206 p.P69L 0.000 NULL HMMPfam_MAGE - no_errors APBB1IP 54518 genome.wustl.edu 36 10 26821280 26821280 + Missense_Mutation SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 10 26821280 26821280 G A SNP APBB1IP NM_019043 human genbank 54_36p +1 validated missense c.19 p.D7N 1.000 NULL HMMPfam_RA,HMMSmart_RA,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors NDNL2 56160 genome.wustl.edu 36 15 27348889 27348889 + Missense_Mutation SNP G G C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 15 27348889 27348889 G C SNP NDNL2 NM_138704 human genbank 54_36p -1 reviewed missense c.313 p.P105A 0.883 HMMPfam_MAGE HMMPfam_MAGE - no_errors SMEK3P 139420 genome.wustl.edu 36 X 27389348 27389348 + RNA SNP C C A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 X 27389348 27389348 C A SNP SMEK3P NR_002784 human genbank 54_36p -1 provisional rna NULL NULL 0.000 - - - pseudogene SVIL 6840 genome.wustl.edu 36 10 29816129 29816129 + Missense_Mutation SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 10 29816129 29816129 C T SNP SVIL NM_021738 human genbank 54_36p -1 reviewed missense c.4454 p.G1485E 1.000 superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_VHP Villin headpiece domain,HMMPfam_VHP,HMMSmart_SM00153 - no_errors ITGAL 3683 genome.wustl.edu 36 16 30429900 30429900 + Missense_Mutation SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 16 30429900 30429900 G A SNP ITGAL NM_002209 human genbank 54_36p +1 reviewed missense c.2728 p.D910N 0.969 HMMPfam_Integrin_alpha2,superfamily_Integrin domains superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors LOC645744 645744 genome.wustl.edu 36 17 30850050 30850050 + RNA SNP A A G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 17 30850050 30850050 A G SNP LOC645744 XR_017633 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene LOC647157 647157 genome.wustl.edu 36 16 32349594 32349594 + RNA SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 16 32349594 32349594 G A SNP LOC647157 XR_017478 human genbank 54_36p +1 model rna NULL NULL 0.932 - - - pseudogene SYNGAP1 8831 genome.wustl.edu 36 6 33510946 33510946 + Missense_Mutation SNP T T G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 6 33510946 33510946 T G SNP SYNGAP1 NM_006772 human genbank 54_36p +1 validated missense c.504 p.H168Q 0.981 HMMSmart_SM00233 HMMSmart_SM00233,superfamily_PH domain-like,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1 - no_errors CSMD2 114784 genome.wustl.edu 36 1 33825350 33825350 + Missense_Mutation SNP G G C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 33825350 33825350 G C SNP CSMD2 NM_052896 human genbank 54_36p -1 validated missense c.6868 p.P2290A 1.000 superfamily_Spermadhesin CUB domain,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC - no_errors C9orf131 138724 genome.wustl.edu 36 9 35033225 35033225 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 9 35033225 35033225 C G SNP C9orf131 NM_203299 human genbank 54_36p +1 validated missense c.599 p.P200R 1.000 NULL NULL - no_errors KCNH4 23415 genome.wustl.edu 36 17 37584470 37584470 + Silent SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 17 37584470 37584470 C T SNP KCNH4 NM_012285 human genbank 54_36p -1 reviewed silent c.177 p.E59 1.000 HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS,HMMSmart_PAC,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding - no_errors DNAH8 1769 genome.wustl.edu 36 6 39001956 39001956 + Missense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 6 39001956 39001956 G T SNP DNAH8 NM_001371 human genbank 54_36p +1 validated missense c.10459 p.D3487Y 1.000 NULL HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors MAP4K3 8491 genome.wustl.edu 36 2 39341358 39341358 + Missense_Mutation SNP T T C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 2 39341358 39341358 T C SNP MAP4K3 NM_003618 human genbank 54_36p -1 reviewed missense c.2201 p.E734G 1.000 HMMSmart_SM00036,HMMPfam_CNH superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,HMMSmart_SM00036,HMMPfam_CNH - no_errors NYX 60506 genome.wustl.edu 36 X 41219001 41219001 + Missense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 X 41219001 41219001 G T SNP NYX NM_022567 human genbank 54_36p +1 reviewed missense c.1351 p.V451L 0.006 NULL HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT - no_errors KLHDC3 116138 genome.wustl.edu 36 6 43096431 43096431 + Silent SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 6 43096431 43096431 C T SNP KLHDC3 NM_057161 human genbank 54_36p +1 reviewed silent c.1131 p.I377 0.970 NULL superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2,HMMPfam_Kelch_1 - no_errors RYR1 6261 genome.wustl.edu 36 19 43660273 43660273 + Silent SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 19 43660273 43660273 C T SNP RYR1 NM_000540 human genbank 54_36p +1 reviewed silent c.4377 p.H1459 0.998 HMMPfam_SPRY,HMMSmart_SM00449 HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans - no_errors MYL7 58498 genome.wustl.edu 36 7 44146475 44146475 + Missense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 7 44146475 44146475 G T SNP MYL7 NM_021223 human genbank 54_36p -1 validated missense c.270 p.F90L 1.000 superfamily_SSF47473 superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors CXCL12 6387 genome.wustl.edu 36 10 44196227 44196227 + Missense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 10 44196227 44196227 G T SNP CXCL12 NM_001033886 human genbank 54_36p -1 validated missense c.169 p.L57I 0.998 HMMPfam_IL8,superfamily_Chemokine_IL8,HMMSmart_SCY HMMPfam_IL8,superfamily_Chemokine_IL8,HMMSmart_SCY - no_errors IL28A 282616 genome.wustl.edu 36 19 44452235 44452235 + Silent SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 19 44452235 44452235 G A SNP IL28A NM_172138 human genbank 54_36p +1 reviewed silent c.438 p.T146 0.000 NULL NULL - no_errors TP53I11 9537 genome.wustl.edu 36 11 44913088 44913088 + Silent SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 11 44913088 44913088 G A SNP TP53I11 NM_001076787 human genbank 54_36p -1 validated silent c.493 p.L165 1.000 NULL NULL - no_errors PFKM 5213 genome.wustl.edu 36 12 46821396 46821396 + Missense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 12 46821396 46821396 G T SNP PFKM NM_000289 human genbank 54_36p +1 validated missense c.1377 p.W459C 1.000 HMMPfam_PFK,superfamily_Phosphofructokinase HMMPfam_PFK,superfamily_Phosphofructokinase,PatternScan_PHOSPHOFRUCTOKINASE - no_errors PRKAG1 5571 genome.wustl.edu 36 12 47684599 47684599 + Nonsense_Mutation SNP G G C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 12 47684599 47684599 G C SNP PRKAG1 NM_002733 human genbank 54_36p -1 reviewed nonsense c.495 p.Y165* 1.000 HMMPfam_CBS,superfamily_SSF54631,HMMSmart_CBS HMMPfam_CBS,HMMSmart_CBS,superfamily_SSF54631 - no_errors AQP2 359 genome.wustl.edu 36 12 48631220 48631220 + Missense_Mutation SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 12 48631220 48631220 G A SNP AQP2 NM_000486 human genbank 54_36p +1 reviewed missense c.340 p.G114R 1.000 superfamily_MIP,HMMPfam_MIP superfamily_MIP,HMMPfam_MIP,PatternScan_MIP - no_errors CEACAM19 56971 genome.wustl.edu 36 19 49876412 49876412 + Missense_Mutation SNP A A G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 19 49876412 49876412 A G SNP CEACAM19 NM_020219 human genbank 54_36p +1 validated missense c.780 p.I260M 0.001 NULL superfamily_Immunoglobulin - no_errors ZNF859P 0 genome.wustl.edu 36 1 50083987 50083987 + Missense_Mutation SNP T T A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 50083987 50083987 T A SNP ZNF859P ENST00000401053 human ensembl 54_36p +1 known missense c.826 p.Y276N 0.951 superfamily_C2H2 and C2HC zinc fingers superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_start_codon GEMIN7 79760 genome.wustl.edu 36 19 50285352 50285352 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 19 50285352 50285352 C G SNP GEMIN7 NM_001007269 human genbank 54_36p +1 reviewed missense c.140 p.A47G 0.001 NULL NULL - no_errors ABHD14B 84836 genome.wustl.edu 36 3 51978537 51978537 + Missense_Mutation SNP T T C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 3 51978537 51978537 T C SNP ABHD14B NM_032750 human genbank 54_36p -1 provisional missense c.578 p.D193G 1.000 superfamily_alpha/beta-Hydrolases superfamily_alpha/beta-Hydrolases - no_errors RBL2 5934 genome.wustl.edu 36 16 52070603 52070603 + Missense_Mutation SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 16 52070603 52070603 C T SNP RBL2 NM_005611 human genbank 54_36p +1 validated missense c.2740 p.R914C 1.000 HMMPfam_RB_B,superfamily_Cyclin_like,HMMSmart_CYCLIN HMMSmart_CYCLIN,HMMPfam_RB_A,superfamily_Cyclin_like,HMMPfam_RB_B - no_errors PAN2 9924 genome.wustl.edu 36 12 54999772 54999772 + Missense_Mutation SNP T T A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 12 54999772 54999772 T A SNP PAN2 NM_014871 human genbank 54_36p -1 validated missense c.2990 p.K997I 1.000 superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T superfamily_WD40 repeat-like,superfamily_Cysteine proteinases,HMMPfam_UCH,superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T - no_errors LOC341689 341689 genome.wustl.edu 36 13 58003004 58003004 + RNA SNP G G C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 13 58003004 58003004 G C SNP LOC341689 XR_017487 human genbank 54_36p +1 model rna NULL NULL 0.999 - - - no_errors ZNF816A 125893 genome.wustl.edu 36 19 58145985 58145985 + Nonsense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 19 58145985 58145985 G T SNP ZNF816A NM_001031665 human genbank 54_36p -1 validated nonsense c.855 p.Y285* 0.022 superfamily_SSF48695,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF48695 - no_errors ZNF471 57573 genome.wustl.edu 36 19 61728335 61728335 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 19 61728335 61728335 C G SNP ZNF471 NM_020813 human genbank 54_36p +1 validated missense c.1087 p.R363G 0.000 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,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors INADL 10207 genome.wustl.edu 36 1 62043715 62043715 + Silent SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 62043715 62043715 C G SNP INADL NM_176877 human genbank 54_36p +1 reviewed silent c.1557 p.V519 0.001 NULL HMMPfam_L27_2,HMMSmart_SM00569,superfamily_L27 domain,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors IGDCC3 9543 genome.wustl.edu 36 15 63410596 63410596 + Missense_Mutation SNP T T C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 15 63410596 63410596 T C SNP IGDCC3 NM_004884 human genbank 54_36p -1 validated missense c.1406 p.E469G 0.989 superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors PLCB3 5331 genome.wustl.edu 36 11 63791500 63791500 + Missense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 11 63791500 63791500 G T SNP PLCB3 NM_000932 human genbank 54_36p +1 provisional missense c.3601 p.D1201Y 0.981 HMMPfam_PLC-beta_C superfamily_EF-hand,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_PLC-beta_C - no_errors CDH5 1003 genome.wustl.edu 36 16 64994360 64994360 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 16 64994360 64994360 C G SNP CDH5 NM_001795 human genbank 54_36p +1 reviewed missense c.2142 p.D714E 0.995 HMMPfam_Cadherin_C superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors E2F4 1874 genome.wustl.edu 36 16 65784480 65784480 + Missense_Mutation SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 16 65784480 65784480 G A SNP E2F4 NM_001950 human genbank 54_36p +1 reviewed missense c.313 p.E105K 1.000 NULL superfamily_SSF46785,HMMPfam_E2F_TDP - no_errors KLC2 64837 genome.wustl.edu 36 11 65789990 65789990 + Missense_Mutation SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 11 65789990 65789990 G A SNP KLC2 NM_022822 human genbank 54_36p +1 validated missense c.1533 p.M511I 0.001 NULL HMMPfam_Rab5-bind,superfamily_SSF48452,PatternScan_KINESIN_LIGHT,HMMPfam_TPR_1,HMMSmart_TPR - no_errors LOC100129096 0 genome.wustl.edu 36 8 70204723 70204723 + RNA SNP A A G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 8 70204723 70204723 A G SNP LOC100129096 XR_037300 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene TPH2 121278 genome.wustl.edu 36 12 70652651 70652651 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 12 70652651 70652651 C G SNP TPH2 NM_173353 human genbank 54_36p +1 reviewed missense c.694 p.P232A 1.000 superfamily_Aaa_hydroxylase,HMMPfam_Biopterin_H superfamily_SSF55021,HMMPfam_ACT,superfamily_Aaa_hydroxylase,HMMPfam_Biopterin_H,PatternScan_BIOPTERIN_HYDROXYL - no_errors ATG16L2 89849 genome.wustl.edu 36 11 72205505 72205505 + Missense_Mutation SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 11 72205505 72205505 C T SNP ATG16L2 NM_033388 human genbank 54_36p +1 validated missense c.203 p.T68I 0.000 HMMPfam_ATG16 HMMPfam_ATG16,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors MFSD11 79157 genome.wustl.edu 36 17 72285874 72285874 + Missense_Mutation SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 17 72285874 72285874 G A SNP MFSD11 NM_024311 human genbank 54_36p +1 provisional missense c.1195 p.A399T 1.000 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter,HMMPfam_DUF895 - no_errors CYP1A2 1544 genome.wustl.edu 36 15 72829455 72829455 + Missense_Mutation SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 15 72829455 72829455 G A SNP CYP1A2 NM_000761 human genbank 54_36p +1 reviewed missense c.323 p.R108Q 1.000 HMMPfam_p450,superfamily_Cytochrome_P450 HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 - no_errors POLD3 10714 genome.wustl.edu 36 11 73981357 73981357 + Silent SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 11 73981357 73981357 G A SNP POLD3 NM_006591 human genbank 54_36p +1 validated silent c.6 p.A2 1.000 NULL HMMPfam_CDC27 - no_errors LGALS3BP 3959 genome.wustl.edu 36 17 74479594 74479594 + Missense_Mutation SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 17 74479594 74479594 C T SNP LGALS3BP NM_005567 human genbank 54_36p -1 reviewed missense c.1417 p.D473N 0.236 NULL superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_BACK - no_errors PPBP 5473 genome.wustl.edu 36 4 75072574 75072574 + Silent SNP G G C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 4 75072574 75072574 G C SNP PPBP NM_002704 human genbank 54_36p -1 reviewed silent c.111 p.T37 0.000 NULL HMMPfam_IL8,superfamily_Interleukin 8-like chemokines,HMMSmart_SM00199,PatternScan_SMALL_CYTOKINES_CXC - no_errors RASGRF1 5923 genome.wustl.edu 36 15 77091915 77091915 + Missense_Mutation SNP C C A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 15 77091915 77091915 C A SNP RASGRF1 NM_002891 human genbank 54_36p -1 reviewed missense c.1836 p.R612S 0.004 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF - no_errors CDYL2 124359 genome.wustl.edu 36 16 79212274 79212274 + Silent SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 16 79212274 79212274 C T SNP CDYL2 NM_152342 human genbank 54_36p -1 validated silent c.894 p.L298 1.000 superfamily_SSF52096,HMMPfam_ECH superfamily_Chromodomain-like,HMMSmart_CHROMO,HMMPfam_Chromo,PatternScan_CHROMO_1,superfamily_SSF52096,HMMPfam_ECH - no_errors LOC728967 728967 genome.wustl.edu 36 8 79740992 79740992 + Silent SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 8 79740992 79740992 C T SNP LOC728967 XM_001129977 human genbank 54_36p -1 model silent c.333 p.P111 0.001 NULL NULL - no_errors CD36 948 genome.wustl.edu 36 7 80138237 80138237 + Missense_Mutation SNP A A G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 7 80138237 80138237 A G SNP CD36 NM_000072 human genbank 54_36p +1 reviewed missense c.827 p.Y276C 0.977 HMMPfam_CD36 HMMPfam_CD36 - no_errors HELQ 113510 genome.wustl.edu 36 4 84593447 84593447 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 4 84593447 84593447 C G SNP HELQ NM_133636 human genbank 54_36p -1 validated missense c.973 p.D325H 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors KIF27 55582 genome.wustl.edu 36 9 85691835 85691835 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 9 85691835 85691835 C G SNP KIF27 NM_017576 human genbank 54_36p -1 provisional missense c.2180 p.R727T 1.000 NULL HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1 - no_errors TMTC3 160418 genome.wustl.edu 36 12 87110599 87110599 + Silent SNP T T C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 12 87110599 87110599 T C SNP TMTC3 NM_181783 human genbank 54_36p +1 validated silent c.1794 p.D598 0.998 superfamily_Prenyl_trans,HMMPfam_TPR_1,HMMSmart_TPR HMMPfam_DUF1736,superfamily_Prenyl_trans,HMMPfam_TPR_1,HMMSmart_TPR - no_errors CPNE7 27132 genome.wustl.edu 36 16 88171471 88171471 + Silent SNP G G C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 16 88171471 88171471 G C SNP CPNE7 NM_014427 human genbank 54_36p +1 reviewed silent c.198 p.R66 1.000 HMMSmart_SM00239,HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) HMMSmart_SM00239,HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_Copine - no_errors RARS2 57038 genome.wustl.edu 36 6 88308366 88308366 + Missense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 6 88308366 88308366 G T SNP RARS2 NM_020320 human genbank 54_36p -1 reviewed missense c.601 p.H201N 1.000 HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase superfamily_Arginyl-tRNA synthetase (ArgRS) N-terminal 'additional' domain,HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase,PatternScan_AA_TRNA_LIGASE_I,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_DALR_1 - no_errors GJA10 84694 genome.wustl.edu 36 6 90661979 90661979 + Silent SNP A A C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 6 90661979 90661979 A C SNP GJA10 NM_032602 human genbank 54_36p +1 validated silent c.1071 p.S357 0.000 NULL HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2 - no_errors AKAP9 10142 genome.wustl.edu 36 7 91546782 91546782 + Missense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 7 91546782 91546782 G T SNP AKAP9 NM_005751 human genbank 54_36p +1 reviewed missense c.7399 p.V2467L 0.181 NULL PatternScan_CPSASE_2,HMMPfam_PACT_coil_coil - no_errors MTNR1B 4544 genome.wustl.edu 36 11 92342595 92342595 + Missense_Mutation SNP G A A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 11 92342595 92342595 G A SNP MTNR1B NM_005959 human genbank 54_36p +1 reviewed missense c.56 p.R19H 0.005 NULL superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ANKRD1 27063 genome.wustl.edu 36 10 92665915 92665915 + Missense_Mutation SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 10 92665915 92665915 C T SNP ANKRD1 NM_014391 human genbank 54_36p -1 reviewed missense c.644 p.R215Q 1.000 superfamily_ANK,HMMPfam_Ank superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK - no_errors ANKRD32 84250 genome.wustl.edu 36 5 94056677 94056677 + Silent SNP A A G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 5 94056677 94056677 A G SNP ANKRD32 NM_032290 human genbank 54_36p +1 validated silent c.1173 p.E391 0.980 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors WNK2 65268 genome.wustl.edu 36 9 95094674 95094674 + Missense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 9 95094674 95094674 G T SNP WNK2 NM_006648 human genbank 54_36p +1 reviewed missense c.5106 p.E1702D 0.003 NULL superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST - no_errors OR5AC2 81050 genome.wustl.edu 36 3 99289235 99289235 + Missense_Mutation SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 3 99289235 99289235 C T SNP OR5AC2 NM_054106 human genbank 54_36p +1 provisional missense c.529 p.H177Y 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors CHSY1 22856 genome.wustl.edu 36 15 99536136 99536136 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 15 99536136 99536136 C G SNP CHSY1 NM_014918 human genbank 54_36p -1 validated missense c.1389 p.M463I 1.000 HMMPfam_CHGN,superfamily_SSF53448 HMMPfam_CHGN,superfamily_SSF53448 - no_errors TFR2 7036 genome.wustl.edu 36 7 100062391 100062391 + Silent SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 7 100062391 100062391 C T SNP TFR2 NM_003227 human genbank 54_36p -1 reviewed silent c.2067 p.R689 1.000 superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M28,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer - no_errors OR4F6 390648 genome.wustl.edu 36 15 100163722 100163722 + Missense_Mutation SNP T T C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 15 100163722 100163722 T C SNP OR4F6 NM_001005326 human genbank 54_36p +1 provisional missense c.277 p.S93P 0.537 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 HISPPD1 23262 genome.wustl.edu 36 5 102510129 102510129 + Splice_Site SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 5 102510129 102510129 G A SNP HISPPD1 NM_015216 human genbank 54_36p +1 provisional splice_site c.488-1 e5-1 1.000 - - - no_errors NAMPT 10135 genome.wustl.edu 36 7 105700218 105700218 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 7 105700218 105700218 C G SNP NAMPT NM_005746 human genbank 54_36p -1 reviewed missense c.441 p.W147C 1.000 NULL HMMPfam_NAPRTase - no_errors INTS12 57117 genome.wustl.edu 36 4 106833977 106833977 + Missense_Mutation SNP T T A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 4 106833977 106833977 T A SNP INTS12 NM_020395 human genbank 54_36p -1 validated missense c.425 p.D142V 1.000 NULL superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1 - no_errors TMEM38B 55151 genome.wustl.edu 36 9 107523659 107523659 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 9 107523659 107523659 C G SNP TMEM38B NM_018112 human genbank 54_36p +1 provisional missense c.290 p.P97R 0.995 HMMPfam_DUF714 HMMPfam_DUF714 - no_errors C1orf59 113802 genome.wustl.edu 36 1 108994474 108994474 + Missense_Mutation SNP G G C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 108994474 108994474 G C SNP C1orf59 NM_001102592 human genbank 54_36p -1 validated missense c.638 p.P213R 0.901 NULL superfamily_SSF53335 - no_errors WDR47 22911 genome.wustl.edu 36 1 109326919 109326919 + Missense_Mutation SNP C C A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 109326919 109326919 C A SNP WDR47 NM_014969 human genbank 54_36p -1 validated missense c.2104 p.D702Y 1.000 superfamily_WD40_like,HMMSmart_WD40 HMMSmart_LisH,HMMSmart_CTLH,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors POU2AF1 5450 genome.wustl.edu 36 11 110730350 110730350 + Missense_Mutation SNP A A G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 11 110730350 110730350 A G SNP POU2AF1 NM_006235 human genbank 54_36p -1 validated missense c.617 p.V206A 1.000 HMMPfam_PD-C2-AF1 HMMPfam_PD-C2-AF1 - no_errors UPF3A 65110 genome.wustl.edu 36 13 114075351 114075351 + Missense_Mutation SNP G G C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 13 114075351 114075351 G C SNP UPF3A NM_023011 human genbank 54_36p +1 reviewed missense c.828 p.E276D 1.000 NULL HMMPfam_Smg4_UPF3,superfamily_RNA-binding domain RBD - no_errors LOC645529 645529 genome.wustl.edu 36 2 114142547 114142547 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 2 114142547 114142547 C G SNP LOC645529 XM_001716670 human genbank 54_36p -1 model missense c.493 p.G165R 0.194 HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,HMMPfam_Trypsin HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,HMMPfam_Trypsin,PatternScan_TRYPSIN_SER - no_errors DFNB31 25861 genome.wustl.edu 36 9 116205380 116205380 + Missense_Mutation SNP C C A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 9 116205380 116205380 C A SNP DFNB31 NM_015404 human genbank 54_36p -1 validated missense c.2479 p.G827C 1.000 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors KIAA0999 23387 genome.wustl.edu 36 11 116330020 116330020 + Missense_Mutation SNP T T G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 11 116330020 116330020 T G SNP KIAA0999 NM_025164 human genbank 54_36p -1 validated missense c.230 p.E77A 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors BCL9L 283149 genome.wustl.edu 36 11 118278772 118278772 + Missense_Mutation SNP C C A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 11 118278772 118278772 C A SNP BCL9L NM_182557 human genbank 54_36p -1 validated missense c.890 p.G297V 0.957 NULL PatternScan_RIBOSOMAL_S6E - no_errors HPD 3242 genome.wustl.edu 36 12 120766025 120766025 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 12 120766025 120766025 C G SNP HPD NM_002150 human genbank 54_36p -1 validated missense c.928 p.V310L 0.995 superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase,HMMPfam_Glyoxalase superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase,HMMPfam_Glyoxalase - no_errors SORL1 6653 genome.wustl.edu 36 11 120933301 120933301 + Silent SNP T T C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 11 120933301 120933301 T C SNP SORL1 NM_003105 human genbank 54_36p +1 reviewed silent c.2640 p.A880 0.971 superfamily_YWTD domain,HMMPfam_Ldl_recept_b,HMMSmart_SM00135 superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,PatternScan_EGF_2,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,PatternScan_COPPER_BLUE,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060 - no_errors SEC23IP 11196 genome.wustl.edu 36 10 121648033 121648033 + Missense_Mutation SNP A A C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 10 121648033 121648033 A C SNP SEC23IP NM_007190 human genbank 54_36p +1 reviewed missense c.268 p.S90R 0.999 NULL superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_DDHD - no_errors OR8A1 390275 genome.wustl.edu 36 11 123945244 123945244 + Missense_Mutation SNP T T G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 11 123945244 123945244 T G SNP OR8A1 NM_001005194 human genbank 54_36p +1 provisional missense c.70 p.S24A 0.969 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ROBO4 54538 genome.wustl.edu 36 11 124270763 124270763 + Missense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 11 124270763 124270763 G T SNP ROBO4 NM_019055 human genbank 54_36p -1 validated missense c.836 p.S279Y 0.997 HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors LOC728666 728666 genome.wustl.edu 36 6 127007016 127007016 + RNA SNP A A G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 6 127007016 127007016 A G SNP LOC728666 XR_015645 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - no_errors FBN2 2201 genome.wustl.edu 36 5 127725351 127725351 + Missense_Mutation SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 5 127725351 127725351 C T SNP FBN2 NM_001999 human genbank 54_36p -1 reviewed missense c.2518 p.G840R 0.997 superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_2 superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Concanavalin A-like lectins/glucanases,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 AFF4 27125 genome.wustl.edu 36 5 132262719 132262719 + Missense_Mutation SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 5 132262719 132262719 G A SNP AFF4 NM_014423 human genbank 54_36p -1 validated missense c.1202 p.T401I 1.000 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors RALGDS 5900 genome.wustl.edu 36 9 134972428 134972428 + Silent SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 9 134972428 134972428 C T SNP RALGDS NM_006266 human genbank 54_36p -1 validated silent c.1278 p.L426 1.000 superfamily_Ras GEF,HMMSmart_SM00147,HMMPfam_RasGEF superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF,superfamily_Ubiquitin-like,HMMPfam_RA,HMMSmart_SM00314 - no_errors LOC645175 645175 genome.wustl.edu 36 6 135260776 135260776 + RNA SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 6 135260776 135260776 G A SNP LOC645175 XR_017268 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene CHRM2 1129 genome.wustl.edu 36 7 136350162 136350162 + Missense_Mutation SNP T T A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 7 136350162 136350162 T A SNP CHRM2 NM_000739 human genbank 54_36p +1 reviewed missense c.10 p.S4T 0.997 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors DGKI 9162 genome.wustl.edu 36 7 136726556 136726556 + Missense_Mutation SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 7 136726556 136726556 G A SNP DGKI NM_004717 human genbank 54_36p -1 reviewed missense c.3148 p.R1050C 0.999 superfamily_ANK PatternScan_ZF_DAG_PE_1,HMMSmart_C1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_DAGKc,HMMPfam_DAGK_acc,HMMSmart_DAGKa,superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK - no_errors FCN2 2220 genome.wustl.edu 36 9 136914201 136914201 + Missense_Mutation SNP A A G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 9 136914201 136914201 A G SNP FCN2 NM_004108 human genbank 54_36p +1 reviewed missense c.109 p.M37V 0.415 NULL HMMPfam_Collagen,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like,PatternScan_FIBRIN_AG_C_DOMAIN - no_errors KCNT1 57582 genome.wustl.edu 36 9 137781823 137781823 + Missense_Mutation SNP T T C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 9 137781823 137781823 T C SNP KCNT1 NM_020822 human genbank 54_36p +1 provisional missense c.313 p.F105L 1.000 NULL superfamily_SSF81324,HMMPfam_Ion_trans_2,superfamily_NAD(P)-bd,HMMPfam_BK_channel_a - no_errors PCDHB11 56125 genome.wustl.edu 36 5 140560125 140560125 + Missense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 5 140560125 140560125 G T SNP PCDHB11 NM_018931 human genbank 54_36p +1 reviewed missense c.594 p.K198N 0.006 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors PCDHB18 54660 genome.wustl.edu 36 5 140595675 140595675 + Silent SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 5 140595675 140595675 C G SNP PCDHB18 ENST00000274705 human ensembl 54_36p +1 known silent c.1206 p.S402 0.799 superfamily_Cadherin HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA - no_errors LOC136242 136242 genome.wustl.edu 36 7 141183405 141183405 + Silent SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 7 141183405 141183405 C T SNP LOC136242 NM_001008270 human genbank 54_36p -1 predicted silent c.543 p.V181 0.702 HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,HMMPfam_Trypsin - no_errors CLCN1 1180 genome.wustl.edu 36 7 142738038 142738038 + Missense_Mutation SNP A A G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 7 142738038 142738038 A G SNP CLCN1 NM_000083 human genbank 54_36p +1 reviewed missense c.905 p.Y302C 1.000 superfamily_Clc chloride channel,HMMPfam_Voltage_CLC superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS - no_errors PDE4DIP 9659 genome.wustl.edu 36 1 143705998 143705998 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 143705998 143705998 C G SNP PDE4DIP NM_014644 human genbank 54_36p -1 validated missense c.91 p.E31Q 1.000 HMMPfam_Microtub_assoc HMMPfam_Microtub_assoc - no_errors ANKRD34A 284615 genome.wustl.edu 36 1 144185465 144185465 + Silent SNP A A T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 144185465 144185465 A T SNP ANKRD34A NM_001039888 human genbank 54_36p +1 validated silent c.780 p.P260 0.162 NULL HMMSmart_SM00248,HMMPfam_Ank,superfamily_Ankyrin repeat - no_errors ESR1 2099 genome.wustl.edu 36 6 152307246 152307246 + Missense_Mutation SNP C C A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 6 152307246 152307246 C A SNP ESR1 NM_000125 human genbank 54_36p +1 reviewed missense c.1006 p.P336T 1.000 superfamily_Nuclear receptor ligand-binding domain HMMPfam_Oest_recep,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00399,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep - no_errors DAP3 7818 genome.wustl.edu 36 1 153967803 153967803 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 153967803 153967803 C G SNP DAP3 NM_004632 human genbank 54_36p +1 reviewed missense c.876 p.N292K 0.910 HMMPfam_DAP3 HMMPfam_DAP3 - no_errors FCRL4 83417 genome.wustl.edu 36 1 155825647 155825647 + Missense_Mutation SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 155825647 155825647 C T SNP FCRL4 NM_031282 human genbank 54_36p -1 provisional missense c.278 p.S93N 0.043 superfamily_Immunoglobulin,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors FCRL3 115352 genome.wustl.edu 36 1 155932729 155932729 + Missense_Mutation SNP G G C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 155932729 155932729 G C SNP FCRL3 NM_052939 human genbank 54_36p -1 reviewed missense c.857 p.S286C 0.954 superfamily_Immunoglobulin superfamily_Immunoglobulin,PatternScan_N6_MTASE,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors GRIA2 2891 genome.wustl.edu 36 4 158476469 158476469 + Missense_Mutation SNP T T A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 4 158476469 158476469 T A SNP GRIA2 NM_000826 human genbank 54_36p +1 reviewed missense c.1463 p.L488H 1.000 superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors BRD7P2 647076 genome.wustl.edu 36 3 161302274 161302274 + RNA SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 3 161302274 161302274 G A SNP BRD7P2 XR_017374 human genbank 54_36p +1 model rna NULL NULL 0.701 - - - pseudogene LRP2 4036 genome.wustl.edu 36 2 169771186 169771186 + Silent SNP A A G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 2 169771186 169771186 A G SNP LRP2 NM_004525 human genbank 54_36p -1 validated silent c.7290 p.S2430 0.815 superfamily_SSF63825,HMMSmart_LY superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMSmart_EGF,superfamily_Grow_fac_recept,PatternScan_EGF_2,superfamily_SSF63825,HMMSmart_LY,HMMPfam_Ldl_recept_b,superfamily_SSF57196,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1 - no_errors MYOC 4653 genome.wustl.edu 36 1 169887821 169887821 + Missense_Mutation SNP C C T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 169887821 169887821 C T SNP MYOC NM_000261 human genbank 54_36p -1 reviewed missense c.554 p.C185Y 1.000 NULL HMMPfam_OLF,HMMSmart_SM00284 - no_errors PDK1 5163 genome.wustl.edu 36 2 173139878 173139878 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 2 173139878 173139878 C G SNP PDK1 NM_002610 human genbank 54_36p +1 reviewed missense c.740 p.S247C 1.000 superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain,HMMPfam_BCDHK_Adom3,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,HMMSmart_SM00387 - no_errors FGFR4 2264 genome.wustl.edu 36 5 176450238 176450238 + Silent SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 5 176450238 176450238 G A SNP FGFR4 NM_002011 human genbank 54_36p +1 reviewed silent c.333 p.Q111 0.889 HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors ANGPTL1 9068 genome.wustl.edu 36 1 177101376 177101376 + Silent SNP G G A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 177101376 177101376 G A SNP ANGPTL1 NM_004673 human genbank 54_36p -1 reviewed silent c.159 p.F53 0.991 NULL superfamily_Fibrinogen_a/b/g_C,HMMSmart_FBG,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN - no_errors MASP1 5648 genome.wustl.edu 36 3 188453742 188453742 + Missense_Mutation SNP G G C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 3 188453742 188453742 G C SNP MASP1 NM_139125 human genbank 54_36p -1 reviewed missense c.800 p.P267R 0.793 superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB HMMSmart_CUB,HMMPfam_CUB,superfamily_CUB,superfamily_SSF57196,PatternScan_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_SER - no_errors CDC73 79577 genome.wustl.edu 36 1 191365954 191365954 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 191365954 191365954 C G SNP CDC73 NM_024529 human genbank 54_36p +1 validated missense c.265 p.P89A 1.000 NULL HMMPfam_CDC73 - no_errors STAT4 6775 genome.wustl.edu 36 2 191606907 191606907 + Missense_Mutation SNP G G T novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 2 191606907 191606907 G T SNP STAT4 NM_003151 human genbank 54_36p -1 reviewed missense c.1690 p.H564N 1.000 superfamily_P53_like_DNA_bnd superfamily_STAT,HMMPfam_STAT_int,HMMPfam_STAT_alpha,HMMPfam_STAT_bind,superfamily_P53_like_DNA_bnd,superfamily_SSF55550,HMMPfam_SH2,HMMSmart_SH2 - no_errors RNPEP 6051 genome.wustl.edu 36 1 200231941 200231941 + Missense_Mutation SNP G G C novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 200231941 200231941 G C SNP RNPEP NM_020216 human genbank 54_36p +1 validated missense c.781 p.E261Q 0.997 HMMPfam_Peptidase_M1,superfamily_SSF55486 superfamily_SSF63737,HMMPfam_Peptidase_M1,superfamily_SSF55486,PatternScan_ZINC_PROTEASE,superfamily_ARM-type_fold,HMMPfam_Leuk-A4-hydro_C - no_errors MDH1B 130752 genome.wustl.edu 36 2 207328156 207328156 + Missense_Mutation SNP C C A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 2 207328156 207328156 C A SNP MDH1B NM_001039845 human genbank 54_36p -1 validated missense c.732 p.E244D 1.000 superfamily_NAD(P)-binding Rossmann-fold domains superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_LDH C-terminal domain-like - no_errors IARS2 55699 genome.wustl.edu 36 1 218334398 218334398 + Missense_Mutation SNP A A G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 218334398 218334398 A G SNP IARS2 NM_018060 human genbank 54_36p +1 validated missense c.217 p.M73V 1.000 superfamily_Nucleotidylyl transferase superfamily_Nucleotidylyl transferase,HMMPfam_tRNA-synt_1,PatternScan_AA_TRNA_LIGASE_I,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1,HMMPfam_zf-FPG_IleRS - no_errors AAMP 14 genome.wustl.edu 36 2 218842969 218842969 + Nonsense_Mutation SNP C C A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 2 218842969 218842969 C A SNP AAMP NM_001087 human genbank 54_36p -1 reviewed nonsense c.85 p.E29* 1.000 NULL superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors C1orf65 164127 genome.wustl.edu 36 1 221633499 221633499 + Missense_Mutation SNP G A A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 221633499 221633499 G A SNP C1orf65 NM_152610 human genbank 54_36p +1 validated missense c.59 p.R20Q 0.002 NULL NULL - no_errors UGT1A1 54658 genome.wustl.edu 36 2 234334078 234334078 + Missense_Mutation SNP C C G novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 2 234334078 234334078 C G SNP UGT1A1 NM_000463 human genbank 54_36p +1 reviewed missense c.406 p.L136V 0.530 superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT - no_errors OR2T6 254879 genome.wustl.edu 36 1 246618251 246618251 + Missense_Mutation SNP C C A novel unknown TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0d5c27a-1765-4cd6-9ea5-096fdbcd26d8 a9c224d3-7f20-427c-97a0-8573e5bd2793 1 246618251 246618251 C A SNP OR2T6 NM_001005471 human genbank 54_36p +1 provisional missense c.719 p.T240N 0.999 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors