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 MPG 4350 genome.wustl.edu 36 16 75506 75506 + Silent SNP C C G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 16 75506 75506 C G SNP MPG NM_002434 human genbank 54_36p +1 validated silent c.627 p.L209 1.000 superfamily_FMT C-terminal domain-like,HMMPfam_Pur_DNA_glyco superfamily_FMT C-terminal domain-like,HMMPfam_Pur_DNA_glyco - no_errors CBWD1 55871 genome.wustl.edu 36 9 165736 165736 + Missense_Mutation SNP C C A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 9 165736 165736 C A SNP CBWD1 NM_018491 human genbank 54_36p -1 validated missense c.203 p.S68I 0.994 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_cobW superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_cobW,HMMPfam_CobW_C,superfamily_Hypothetical protein YjiA C-terminal domain - no_errors SLC6A18 348932 genome.wustl.edu 36 5 1295840 1295840 + Silent SNP C C T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 5 1295840 1295840 C T SNP SLC6A18 NM_182632 human genbank 54_36p +1 validated silent c.993 p.I331 0.963 HMMPfam_SNF HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2 - no_errors SLC6A3 6531 genome.wustl.edu 36 5 1485751 1485751 + Missense_Mutation SNP C C T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 5 1485751 1485751 C T SNP SLC6A3 NM_001044 human genbank 54_36p -1 validated missense c.481 p.A161T 1.000 HMMPfam_SNF HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2 - no_errors SEC14L5 9717 genome.wustl.edu 36 16 4987037 4987037 + Missense_Mutation SNP C C A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 16 4987037 4987037 C A SNP SEC14L5 NM_014692 human genbank 54_36p +1 validated missense c.961 p.Q321K 1.000 HMMSmart_SEC14,superfamily_CRAL_TRIO_C,HMMPfam_CRAL_TRIO HMMPfam_PRELI,superfamily_Sec14p_like_N,HMMPfam_CRAL_TRIO_N,HMMSmart_SEC14,superfamily_CRAL_TRIO_C,HMMPfam_CRAL_TRIO,superfamily_SSF101576 - no_errors KIAA2026 158358 genome.wustl.edu 36 9 5912767 5912767 + Missense_Mutation SNP C C G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 9 5912767 5912767 C G SNP KIAA2026 NM_001017969 human genbank 54_36p -1 validated missense c.3229 p.D1077H 1.000 NULL superfamily_Bromodomain - no_errors LRRC30 339291 genome.wustl.edu 36 18 7222018 7222018 + Nonsense_Mutation SNP C C A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 18 7222018 7222018 C A SNP LRRC30 NM_001105581 human genbank 54_36p +1 provisional nonsense c.882 p.Y294* 1.000 superfamily_SSF52058 superfamily_SSF52058,HMMPfam_LRR_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7517846 7517846 + Missense_Mutation SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 17 7517846 7517846 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.817 p.R273C 0.797 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors ABLIM2 84448 genome.wustl.edu 36 4 8133401 8133401 + Missense_Mutation SNP C C G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 4 8133401 8133401 C G SNP ABLIM2 NM_032432 human genbank 54_36p -1 validated missense c.483 p.K161N 0.994 superfamily_SSF57716,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716,superfamily_VHP,HMMPfam_VHP,HMMSmart_VHP - no_errors OR7D4 125958 genome.wustl.edu 36 19 9185680 9185680 + Silent SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 19 9185680 9185680 G A SNP OR7D4 NM_001005191 human genbank 54_36p -1 provisional silent c.834 p.Y278 0.164 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 LOC391636 391636 genome.wustl.edu 36 4 13588493 13588493 + RNA SNP T T A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 4 13588493 13588493 T A SNP LOC391636 XR_016698 human genbank 54_36p +1 model rna NULL NULL 0.992 - - - pseudogene SEL1L2 80343 genome.wustl.edu 36 20 13778203 13778203 + Silent SNP T T C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 20 13778203 13778203 T C SNP SEL1L2 NM_025229 human genbank 54_36p -1 validated silent c.1995 p.P665 0.997 NULL HMMSmart_SEL1,superfamily_SSF81901,HMMPfam_Sel1 - no_errors TTC39B 158219 genome.wustl.edu 36 9 15179769 15179769 + Missense_Mutation SNP G G T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 9 15179769 15179769 G T SNP TTC39B NM_152574 human genbank 54_36p -1 provisional missense c.929 p.A310E 0.013 HMMPfam_Deme6 HMMPfam_Deme6,superfamily_TPR-like,HMMSmart_SM00028 - no_errors NDE1 54820 genome.wustl.edu 36 16 15679173 15679173 + Silent SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 16 15679173 15679173 G A SNP NDE1 NM_017668 human genbank 54_36p +1 reviewed silent c.252 p.V84 0.986 NULL HMMPfam_NUDE_C - no_errors SLC39A12 221074 genome.wustl.edu 36 10 18316519 18316519 + Nonsense_Mutation SNP T T A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 10 18316519 18316519 T A SNP SLC39A12 NM_152725 human genbank 54_36p +1 validated nonsense c.1202 p.L401* 0.998 HMMPfam_Zip HMMPfam_Zip - no_errors OR4K2 390431 genome.wustl.edu 36 14 19414703 19414703 + Missense_Mutation SNP T T A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 14 19414703 19414703 T A SNP OR4K2 NM_001005501 human genbank 54_36p +1 provisional missense c.437 p.V146E 0.003 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 ACSM2A 123876 genome.wustl.edu 36 16 20405415 20405415 + Missense_Mutation SNP C C A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 16 20405415 20405415 C A SNP ACSM2A NM_001010845 human genbank 54_36p +1 validated missense c.1648 p.L550M 0.990 superfamily_Acetyl-CoA synthetase-like superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING - no_errors APOB 338 genome.wustl.edu 36 2 21085458 21085458 + Missense_Mutation SNP G G C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 2 21085458 21085458 G C SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.7787 p.T2596S 0.003 NULL superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081 - no_errors HSPG2 3339 genome.wustl.edu 36 1 22084454 22084454 + Missense_Mutation SNP A A C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 1 22084454 22084454 A C SNP HSPG2 NM_005529 human genbank 54_36p -1 validated missense c.1156 p.F386V 1.000 HMMPfam_Ldl_recept_a,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1 HMMPfam_SEA,HMMSmart_SM00200,HMMPfam_Ldl_recept_a,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00181,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMSmart_SM00281,HMMPfam_Laminin_B,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_LAM_1,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMPfam_V-set,HMMPfam_ig,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMPfam_EGF,HMMPfam_Laminin_G_1 - no_errors E2F2 1870 genome.wustl.edu 36 1 23709152 23709152 + Missense_Mutation SNP A T T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 1 23709152 23709152 A T SNP E2F2 NM_004091 human genbank 54_36p -1 reviewed missense c.1121 p.L374Q 1.000 NULL superfamily_SSF46785,HMMPfam_E2F_TDP - no_errors CTSG 1511 genome.wustl.edu 36 14 24113453 24113453 + Silent SNP C C G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 14 24113453 24113453 C G SNP CTSG NM_001911 human genbank 54_36p -1 reviewed silent c.432 p.V144 0.269 superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors ATP8A2 51761 genome.wustl.edu 36 13 25241278 25241278 + Missense_Mutation SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 13 25241278 25241278 G A SNP ATP8A2 NM_016529 human genbank 54_36p +1 validated missense c.2479 p.G827R 1.000 superfamily_HAD-like HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N - no_errors ASXL2 55252 genome.wustl.edu 36 2 25826753 25826753 + Silent SNP C C T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 2 25826753 25826753 C T SNP ASXL2 NM_018263 human genbank 54_36p -1 validated silent c.1176 p.L392 0.995 NULL NULL - no_errors LRRC37B 114659 genome.wustl.edu 36 17 27373032 27373032 + Missense_Mutation SNP C C G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 17 27373032 27373032 C G SNP LRRC37B NM_052888 human genbank 54_36p +1 validated missense c.754 p.P252A 0.000 NULL superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1 - no_errors OVCH1 341350 genome.wustl.edu 36 12 29539613 29539613 + Missense_Mutation SNP A A G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 12 29539613 29539613 A G SNP OVCH1 NM_183378 human genbank 54_36p -1 validated missense c.326 p.L109P 0.066 superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 - no_errors HECTD1 25831 genome.wustl.edu 36 14 30717204 30717204 + Missense_Mutation SNP G G T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 14 30717204 30717204 G T SNP HECTD1 NM_015382 human genbank 54_36p -1 validated missense c.148 p.P50T 1.000 superfamily_ARM repeat superfamily_ARM repeat,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Galactose-binding domain-like,HMMPfam_Sad1_UNC,HMMPfam_MIB_HERC2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors CCDC73 493860 genome.wustl.edu 36 11 32594084 32594084 + Missense_Mutation SNP A A C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 11 32594084 32594084 A C SNP CCDC73 NM_001008391 human genbank 54_36p -1 validated missense c.1353 p.F451L 0.000 NULL NULL - no_errors LOC728553 728553 genome.wustl.edu 36 5 33198141 33198141 + RNA SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 5 33198141 33198141 G A SNP LOC728553 XR_015414 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene RBM39 9584 genome.wustl.edu 36 20 33764381 33764381 + Missense_Mutation SNP C C G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 20 33764381 33764381 C G SNP RBM39 NM_184234 human genbank 54_36p -1 reviewed missense c.1148 p.G383A 1.000 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMSmart_SM00361 - no_errors TRIOBP 11078 genome.wustl.edu 36 22 36450688 36450688 + Missense_Mutation SNP C C T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 22 36450688 36450688 C T SNP TRIOBP NM_001039141 human genbank 54_36p +1 reviewed missense c.2179 p.R727W 0.194 NULL HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like - no_errors AEBP1 165 genome.wustl.edu 36 7 44118879 44118879 + Missense_Mutation SNP G G C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 7 44118879 44118879 G C SNP AEBP1 NM_001129 human genbank 54_36p +1 reviewed missense c.2415 p.E805D 1.000 superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14 superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,superfamily_Carboxypeptidase regulatory domain - no_errors CYP4A11 1579 genome.wustl.edu 36 1 47176385 47176385 + Missense_Mutation SNP G G C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 1 47176385 47176385 G C SNP CYP4A11 NM_000778 human genbank 54_36p -1 reviewed missense c.207 p.D69E 0.000 HMMPfam_p450,superfamily_Cytochrome P450 HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 - no_errors ABCA13 154664 genome.wustl.edu 36 7 48251113 48251113 + Missense_Mutation SNP C C A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 7 48251113 48251113 C A SNP ABCA13 NM_152701 human genbank 54_36p +1 reviewed missense c.1003 p.P335T 0.007 NULL PatternScan_SERPIN - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FSHR 2492 genome.wustl.edu 36 2 49234983 49234983 + Silent SNP A A T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 2 49234983 49234983 A T SNP FSHR NM_000145 human genbank 54_36p -1 reviewed silent c.78 p.S26 0.857 superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013 superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ZFP64 55734 genome.wustl.edu 36 20 50147044 50147044 + Nonstop_Mutation SNP A A C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 20 50147044 50147044 A C SNP ZFP64 ENST00000395979 human ensembl 54_36p -1 known nonstop c.394 p.*132G 0.000 NULL HMMSmart_ZnF_C2H2 - no_errors CHAT 1103 genome.wustl.edu 36 10 50497779 50497779 + Silent SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 10 50497779 50497779 G A SNP CHAT NM_020549 human genbank 54_36p +1 reviewed silent c.390 p.G130 0.203 superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2 - no_errors TOX3 27324 genome.wustl.edu 36 16 51037597 51037597 + Missense_Mutation SNP T T C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 16 51037597 51037597 T C SNP TOX3 NM_001080430 human genbank 54_36p -1 provisional missense c.716 p.K239R 1.000 superfamily_HMG-box superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box - no_errors CC2D1B 200014 genome.wustl.edu 36 1 52597517 52597517 + Silent SNP T T G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 1 52597517 52597517 T G SNP CC2D1B NM_032449 human genbank 54_36p -1 validated silent c.1119 p.A373 0.527 NULL HMMSmart_SM00685,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors SFRS1 6426 genome.wustl.edu 36 17 53438792 53438792 + Missense_Mutation SNP C C T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 17 53438792 53438792 C T SNP SFRS1 NM_006924 human genbank 54_36p -1 reviewed missense c.290 p.R97Q 1.000 superfamily_RNA-binding domain RBD superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors RB1CC1 9821 genome.wustl.edu 36 8 53735749 53735749 + Missense_Mutation SNP C C A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 8 53735749 53735749 C A SNP RB1CC1 NM_014781 human genbank 54_36p -1 validated missense c.1649 p.R550L 1.000 NULL superfamily_SSF54236,HMMPfam_ATG11 - no_errors ERBB3 2065 genome.wustl.edu 36 12 54781732 54781732 + Missense_Mutation SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 12 54781732 54781732 G A SNP ERBB3 NM_001982 human genbank 54_36p +1 reviewed missense c.3655 p.E1219K 1.000 NULL superfamily_L domain-like,HMMPfam_Recep_L_domain,HMMSmart_SM00261,HMMPfam_Furin-like,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220 - no_errors ATP5E 514 genome.wustl.edu 36 20 57038865 57038865 + Missense_Mutation SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 20 57038865 57038865 G A SNP ATP5E NM_001001977 human genbank 54_36p -1 reviewed missense c.47 p.S16F 1.000 superfamily_ATP_synth_E,HMMPfam_ATP-synt_Eps superfamily_ATP_synth_E,HMMPfam_ATP-synt_Eps - no_errors SERPINB13 5275 genome.wustl.edu 36 18 59412693 59412693 + Missense_Mutation SNP G G C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 18 59412693 59412693 G C SNP SERPINB13 NM_012397 human genbank 54_36p +1 validated missense c.597 p.E199D 0.000 HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093 HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093,PatternScan_SERPIN - no_errors SERPINB4 6318 genome.wustl.edu 36 18 59455968 59455968 + Missense_Mutation SNP T T A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 18 59455968 59455968 T A SNP SERPINB4 NM_002974 human genbank 54_36p -1 validated missense c.1138 p.S380C 0.076 HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN - no_errors NLRP4 147945 genome.wustl.edu 36 19 61061697 61061697 + Missense_Mutation SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 19 61061697 61061697 G A SNP NLRP4 NM_134444 human genbank 54_36p +1 validated missense c.1126 p.V376I 0.000 NULL superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368 - no_errors LOC341315 341315 genome.wustl.edu 36 12 62503352 62503352 + RNA SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 12 62503352 62503352 G A SNP LOC341315 XR_017616 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene DNAJC6 9829 genome.wustl.edu 36 1 65602977 65602977 + Missense_Mutation SNP A A G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 1 65602977 65602977 A G SNP DNAJC6 NM_014787 human genbank 54_36p +1 validated missense c.94 p.R32G 0.596 NULL superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ - no_errors EYS 346007 genome.wustl.edu 36 6 66169187 66169187 + Silent SNP T T G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 6 66169187 66169187 T G SNP EYS NM_198283 human genbank 54_36p -1 reviewed silent c.1089 p.T363 0.008 HMMSmart_SM00181,superfamily_EGF/Laminin superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179 - no_errors CENPC1 1060 genome.wustl.edu 36 4 68066638 68066638 + Missense_Mutation SNP C C G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 4 68066638 68066638 C G SNP CENPC1 NM_001812 human genbank 54_36p -1 reviewed missense c.661 p.D221H 0.005 NULL superfamily_RmlC-like cupins,HMMPfam_Cupin_2 - no_errors LOC100129096 0 genome.wustl.edu 36 8 70204820 70204820 + RNA SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 8 70204820 70204820 G A SNP LOC100129096 XR_037300 human genbank 54_36p +1 model rna NULL NULL 0.874 - - - pseudogene UGT2A1 10941 genome.wustl.edu 36 4 70547627 70547627 + Missense_Mutation SNP G G C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 4 70547627 70547627 G C SNP UGT2A1 NM_006798 human genbank 54_36p -1 validated missense c.325 p.Q109E 0.190 superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT - no_errors SIPA1L1 26037 genome.wustl.edu 36 14 71275598 71275598 + Silent SNP A A G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 14 71275598 71275598 A G SNP SIPA1L1 NM_015556 human genbank 54_36p +1 provisional silent c.5382 p.T1794 0.025 NULL superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors ZFYVE1 53349 genome.wustl.edu 36 14 72534635 72534635 + Missense_Mutation SNP T T C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 14 72534635 72534635 T C SNP ZFYVE1 NM_021260 human genbank 54_36p -1 reviewed missense c.625 p.K209E 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00064,HMMPfam_FYVE - no_errors MYO7A 4647 genome.wustl.edu 36 11 76595991 76595991 + Missense_Mutation SNP G G T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 11 76595991 76595991 G T SNP MYO7A NM_000260 human genbank 54_36p +1 reviewed missense c.5638 p.V1880L 1.000 HMMSmart_SM00295 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMSmart_SM00139,HMMPfam_MyTH4,HMMSmart_SM00295,HMMPfam_FERM_N,superfamily_Second domain of FERM,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1,HMMPfam_FERM_M - no_errors PAK1 5058 genome.wustl.edu 36 11 76724956 76724956 + Silent SNP T T G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 11 76724956 76724956 T G SNP PAK1 NM_002576 human genbank 54_36p -1 reviewed silent c.1236 p.A412 0.993 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase HMMPfam_PBD,HMMSmart_SM00285,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors ALKBH1 8846 genome.wustl.edu 36 14 77230987 77230987 + Missense_Mutation SNP A A C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 14 77230987 77230987 A C SNP ALKBH1 NM_006020 human genbank 54_36p -1 reviewed missense c.302 p.F101C 1.000 NULL NULL - no_errors AK5 26289 genome.wustl.edu 36 1 77655984 77655984 + Missense_Mutation SNP A A G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 1 77655984 77655984 A G SNP AK5 NM_174858 human genbank 54_36p +1 reviewed missense c.1055 p.D352G 1.000 NULL HMMPfam_Dpy-30,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ADK,PatternScan_ADENYLATE_KINASE - no_errors PCLO 27445 genome.wustl.edu 36 7 82376266 82376266 + Splice_Site SNP C C A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 7 82376266 82376266 C A SNP PCLO NM_033026 human genbank 54_36p -1 validated splice_site c.13301-1 e8-1 1.000 - - - no_errors LOC100127915 0 genome.wustl.edu 36 2 85342889 85342889 + RNA SNP T T C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 2 85342889 85342889 T C SNP LOC100127915 XR_039694 human genbank 54_36p -1 model rna NULL NULL 0.956 - - - pseudogene LRRK1 79705 genome.wustl.edu 36 15 99423603 99423603 + Missense_Mutation SNP T T C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 15 99423603 99423603 T C SNP LRRK1 NM_024652 human genbank 54_36p +1 validated missense c.5438 p.I1813T 0.001 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Miro,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220 - no_errors LOC441736 441736 genome.wustl.edu 36 15 100129450 100129450 + RNA SNP A A T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 15 100129450 100129450 A T SNP LOC441736 XR_042320 human genbank 54_36p -1 model rna NULL NULL 0.874 - - - pseudogene PABPC1 26986 genome.wustl.edu 36 8 101790928 101790928 + Missense_Mutation SNP T T G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 8 101790928 101790928 T G SNP PABPC1 NM_002568 human genbank 54_36p -1 validated missense c.1180 p.N394H 1.000 superfamily_RNA-binding domain RBD superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMSmart_SM00361,superfamily_PABC (PABP) domain,HMMPfam_PABP,HMMSmart_SM00517 - no_errors NRCAM 4897 genome.wustl.edu 36 7 107612260 107612260 + Silent SNP C C T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 7 107612260 107612260 C T SNP NRCAM NM_001037132 human genbank 54_36p -1 reviewed silent c.2070 p.K690 0.821 superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,PatternScan_IG_MHC,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors TMEM74 157753 genome.wustl.edu 36 8 109866081 109866081 + Missense_Mutation SNP C C G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 8 109866081 109866081 C G SNP TMEM74 NM_153015 human genbank 54_36p -1 provisional missense c.423 p.W141C 0.959 NULL NULL - no_errors TECTA 7007 genome.wustl.edu 36 11 120504165 120504165 + Missense_Mutation SNP A A G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 11 120504165 120504165 A G SNP TECTA NM_005422 human genbank 54_36p +1 reviewed missense c.2269 p.K757E 1.000 HMMSmart_SM00216,HMMPfam_VWD HMMSmart_SM00539,HMMPfam_NIDO,HMMSmart_SM00215,HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00181,PatternScan_EGF_2,PatternScan_FA58C_2,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1,superfamily_EGF/Laminin - no_errors DIABLO 56616 genome.wustl.edu 36 12 121267052 121267052 + Silent SNP C C T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 12 121267052 121267052 C T SNP DIABLO NM_019887 human genbank 54_36p -1 reviewed silent c.459 p.L153 0.985 HMMPfam_Smac_DIABLO,superfamily_Smac/diablo HMMPfam_Smac_DIABLO,superfamily_Smac/diablo - no_errors PTPRZ1 5803 genome.wustl.edu 36 7 121438751 121438751 + Silent SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 7 121438751 121438751 G A SNP PTPRZ1 NM_002851 human genbank 54_36p +1 reviewed silent c.2415 p.V805 1.000 NULL superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors DMBT1 1755 genome.wustl.edu 36 10 124351440 124351440 + Silent SNP A A C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 10 124351440 124351440 A C SNP DMBT1 NM_007329 human genbank 54_36p +1 reviewed silent c.3481 p.R1161 1.000 superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1 superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1 - no_errors ENSG00000197366 0 genome.wustl.edu 36 10 124644255 124644255 + Missense_Mutation SNP A A G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 10 124644255 124644255 A G SNP ENSG00000197366 ENST00000332595 human ensembl 54_36p +1 known missense c.260 p.E87G 0.991 HMMPfam_HMG14_17 HMMPfam_HMG14_17,HMMSmart_HMG17 - no_start_codon:no_stop_codon GARNL3 84253 genome.wustl.edu 36 9 129195351 129195351 + Missense_Mutation SNP G G C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 9 129195351 129195351 G C SNP GARNL3 NM_032293 human genbank 54_36p +1 validated missense c.2985 p.K995N 1.000 NULL superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,HMMSmart_SM00036,HMMPfam_CNH - no_errors TG 7038 genome.wustl.edu 36 8 133969460 133969460 + Silent SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 8 133969460 133969460 G A SNP TG NM_003235 human genbank 54_36p +1 validated silent c.2226 p.V742 0.000 superfamily_Thyroglobulin type-1 domain 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 VAV2 7410 genome.wustl.edu 36 9 135651391 135651391 + Missense_Mutation SNP T T A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 9 135651391 135651391 T A SNP VAV2 NM_003371 human genbank 54_36p -1 reviewed missense c.998 p.K333I 1.000 superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1 HMMPfam_CH,superfamily_Calponin-homology,HMMSmart_CH,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889,HMMPfam_C1_1,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,HMMPfam_SH3_1 - no_errors ANKRD35 148741 genome.wustl.edu 36 1 144273489 144273489 + Missense_Mutation SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 1 144273489 144273489 G A SNP ANKRD35 NM_144698 human genbank 54_36p +1 validated missense c.1820 p.G607D 0.973 NULL superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors BCL9 607 genome.wustl.edu 36 1 145551542 145551542 + Missense_Mutation SNP G G C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 1 145551542 145551542 G C SNP BCL9 NM_004326 human genbank 54_36p +1 reviewed missense c.290 p.G97A 1.000 NULL NULL - no_errors ZNF777 27153 genome.wustl.edu 36 7 148783653 148783653 + Missense_Mutation SNP G G C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 7 148783653 148783653 G C SNP ZNF777 NM_015694 human genbank 54_36p -1 validated missense c.394 p.P132A 0.137 NULL superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors HCFC1 3054 genome.wustl.edu 36 X 152876110 152876110 + Silent SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce X 152876110 152876110 G A SNP HCFC1 NM_005334 human genbank 54_36p -1 reviewed silent c.2202 p.T734 0.997 NULL superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMPfam_Kelch_2,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors LENEP 55891 genome.wustl.edu 36 1 153232709 153232709 + Missense_Mutation SNP T T A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 1 153232709 153232709 T A SNP LENEP NM_018655 human genbank 54_36p +1 reviewed missense c.2 p.M1K 0.979 NULL NULL - no_errors FBXW7 55294 genome.wustl.edu 36 4 153493300 153493300 + Missense_Mutation SNP G G T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 4 153493300 153493300 G T SNP FBXW7 NM_018315 human genbank 54_36p -1 validated missense c.33 p.S11R 1.000 NULL superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors LY75 4065 genome.wustl.edu 36 2 160417086 160417086 + Missense_Mutation SNP G G C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 2 160417086 160417086 G C SNP LY75 NM_002349 human genbank 54_36p -1 validated missense c.2755 p.P919A 0.671 HMMSmart_SM00034,superfamily_C-type lectin-like superfamily_Ricin B-like lectins,HMMSmart_SM00458,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors TRIM75 391714 genome.wustl.edu 36 4 166201076 166201076 + Missense_Mutation SNP A A C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 4 166201076 166201076 A C SNP TRIM75 NM_001105575 human genbank 54_36p +1 inferred missense c.1327 p.T443P 0.762 HMMPfam_SPRY,HMMSmart_SPRY superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY - no_errors RANBP17 64901 genome.wustl.edu 36 5 170279082 170279082 + Nonsense_Mutation SNP T T G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 5 170279082 170279082 T G SNP RANBP17 NM_022897 human genbank 54_36p +1 provisional nonsense c.1134 p.Y378* 0.996 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_IBN_N - no_errors PLEKHA3 65977 genome.wustl.edu 36 2 179076731 179076731 + Splice_Site SNP A A G novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 2 179076731 179076731 A G SNP PLEKHA3 NM_019091 human genbank 54_36p +1 validated splice_site c.776-2 e8-2 0.980 - - - no_errors FAM129A 116496 genome.wustl.edu 36 1 183031534 183031534 + Missense_Mutation SNP G G T novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 1 183031534 183031534 G T SNP FAM129A NM_052966 human genbank 54_36p -1 validated missense c.1987 p.P663T 0.021 NULL NULL - no_errors TROVE2 6738 genome.wustl.edu 36 1 191305009 191305009 + Missense_Mutation SNP G G A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 1 191305009 191305009 G A SNP TROVE2 NM_004600 human genbank 54_36p +1 validated missense c.202 p.G68S 1.000 HMMPfam_TROVE HMMPfam_TROVE - no_errors SERTAD4 56256 genome.wustl.edu 36 1 208481569 208481569 + Missense_Mutation SNP C C A novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 1 208481569 208481569 C A SNP SERTAD4 NM_019605 human genbank 54_36p +1 validated missense c.335 p.S112Y 1.000 HMMPfam_SERTA HMMPfam_SERTA - no_errors FN1 2335 genome.wustl.edu 36 2 215981320 215981320 + Missense_Mutation SNP G G C novel unknown TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 5c2b2f75-5284-4723-89a6-4f0091d5654f 9aa2613a-53d5-49cd-99aa-d44f75f425ce 2 215981320 215981320 G C SNP FN1 NM_212482 human genbank 54_36p -1 reviewed missense c.2374 p.Q792E 0.997 HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III superfamily_Fibronectin type I module,HMMPfam_fn1,PatternScan_FN1_1,HMMSmart_SM00058,PatternScan_EGF_1,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_ALDEHYDE_DEHYDR_GLU - no_errors