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 JSRP1 126306 genome.wustl.edu 36 19 2205190 2205190 + Silent SNP T T A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 19 2205190 2205190 T A SNP JSRP1 NM_144616 human genbank 54_36p -1 provisional silent c.258 p.G86 0.439 NULL NULL - no_errors SIRT6 51548 genome.wustl.edu 36 19 4125680 4125680 + Silent SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 19 4125680 4125680 C T SNP SIRT6 NM_016539 human genbank 54_36p -1 reviewed silent c.1002 p.E334 0.195 NULL superfamily_DHS-like NAD/FAD-binding domain,HMMPfam_SIR2 - no_errors TP53 7157 genome.wustl.edu 36 17 7519173 7519173 + Missense_Mutation SNP G G T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 17 7519173 7519173 G T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.482 p.A161D 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors TAS2R1 50834 genome.wustl.edu 36 5 9682771 9682771 + Missense_Mutation SNP A A T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 5 9682771 9682771 A T SNP TAS2R1 NM_019599 human genbank 54_36p -1 reviewed missense c.374 p.L125Q 0.059 HMMPfam_TAS2R,superfamily_SSF81321 HMMPfam_TAS2R,superfamily_SSF81321 - no_errors TAS2R8 50836 genome.wustl.edu 36 12 10850008 10850008 + Missense_Mutation SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 12 10850008 10850008 C T SNP TAS2R8 NM_023918 human genbank 54_36p -1 reviewed missense c.839 p.G280D 0.024 HMMPfam_TAS2R,superfamily_SSF81321 HMMPfam_TAS2R,superfamily_SSF81321 - no_errors TPRXL 348825 genome.wustl.edu 36 3 14081355 14081355 + Silent SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 3 14081355 14081355 C T SNP TPRXL ENST00000326972 human ensembl 54_36p +1 known silent c.678 p.S226 0.111 NULL NULL - no_errors CYTSB 92521 genome.wustl.edu 36 17 20089919 20089919 + Missense_Mutation SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 17 20089919 20089919 C T SNP CYTSB NM_001033553 human genbank 54_36p +1 validated missense c.2440 p.P814S 0.174 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033 - no_errors PLXDC2 84898 genome.wustl.edu 36 10 20574440 20574440 + Silent SNP G G A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 10 20574440 20574440 G A SNP PLXDC2 NM_032812 human genbank 54_36p +1 provisional silent c.1473 p.E491 1.000 NULL HMMPfam_PSI,HMMSmart_SM00423 - no_errors OTOF 9381 genome.wustl.edu 36 2 26552400 26552400 + Silent SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 2 26552400 26552400 C T SNP OTOF NM_194248 human genbank 54_36p -1 reviewed silent c.2877 p.A959 0.982 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerB - no_errors ITGAD 3681 genome.wustl.edu 36 16 31330155 31330155 + Missense_Mutation SNP T T C novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 16 31330155 31330155 T C SNP ITGAD NM_005353 human genbank 54_36p +1 validated missense c.1523 p.V508A 0.000 superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191 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 VARS 7407 genome.wustl.edu 36 6 31855384 31855384 + Missense_Mutation SNP G G C novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 6 31855384 31855384 G C SNP VARS NM_006295 human genbank 54_36p -1 reviewed missense c.3268 p.P1090A 0.985 superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1 HMMPfam_GST_N,superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_GST_C,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 - no_errors TCP11 6954 genome.wustl.edu 36 6 35196756 35196756 + Missense_Mutation SNP T T C novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 6 35196756 35196756 T C SNP TCP11 NM_001093728 human genbank 54_36p -1 validated missense c.662 p.N221S 1.000 HMMPfam_Tcp11 HMMPfam_Tcp11 - no_errors DNAH8 1769 genome.wustl.edu 36 6 38851586 38851586 + Missense_Mutation SNP A A G novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 6 38851586 38851586 A G SNP DNAH8 NM_001371 human genbank 54_36p +1 validated missense c.1192 p.I398V 1.000 HMMPfam_DHC_N1 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 MED14 9282 genome.wustl.edu 36 X 40425029 40425029 + Missense_Mutation SNP A A T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 X 40425029 40425029 A T SNP MED14 NM_004229 human genbank 54_36p -1 reviewed missense c.2535 p.S845R 1.000 NULL HMMPfam_MED14 - no_errors WNT7B 7477 genome.wustl.edu 36 22 44705843 44705843 + Silent SNP G G A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 22 44705843 44705843 G A SNP WNT7B NM_058238 human genbank 54_36p -1 reviewed silent c.369 p.C123 1.000 HMMPfam_wnt,HMMSmart_SM00097 HMMPfam_wnt,HMMSmart_SM00097,PatternScan_WNT1 - no_errors RB1 5925 genome.wustl.edu 36 13 47779463 47779463 + Nonsense_Mutation SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 13 47779463 47779463 C T SNP RB1 NM_000321 human genbank 54_36p +1 reviewed nonsense c.184 p.Q62* 1.000 NULL HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385,HMMPfam_Rb_C - no_errors KATNB1 10300 genome.wustl.edu 36 16 56344623 56344623 + Missense_Mutation SNP G G A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 16 56344623 56344623 G A SNP KATNB1 NM_005886 human genbank 54_36p +1 reviewed missense c.989 p.S330N 0.038 NULL superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors GATA5 140628 genome.wustl.edu 36 20 60473304 60473304 + Missense_Mutation SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 20 60473304 60473304 C T SNP GATA5 NM_080473 human genbank 54_36p -1 reviewed missense c.1177 p.A393T 0.583 NULL HMMPfam_GATA-N,superfamily_SSF57716,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA - no_errors CD6 923 genome.wustl.edu 36 11 60542046 60542046 + Missense_Mutation SNP C C A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 11 60542046 60542046 C A SNP CD6 NM_006725 human genbank 54_36p +1 validated missense c.1822 p.Q608K 0.206 NULL superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1 - no_errors LOC729217 729217 genome.wustl.edu 36 16 62852596 62852596 + RNA SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 16 62852596 62852596 C T SNP LOC729217 XR_015483 human genbank 54_36p -1 model rna NULL NULL 0.997 - - - pseudogene ZNF256 10172 genome.wustl.edu 36 19 63144543 63144543 + Nonsense_Mutation SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 19 63144543 63144543 C T SNP ZNF256 NM_005773 human genbank 54_36p -1 validated nonsense c.1445 p.W482* 0.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors CXorf65 158830 genome.wustl.edu 36 X 70240674 70240674 + Missense_Mutation SNP C C A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 X 70240674 70240674 C A SNP CXorf65 NM_001025265 human genbank 54_36p -1 predicted missense c.440 p.G147V 0.503 NULL NULL - no_errors DCK 1633 genome.wustl.edu 36 4 72110423 72110423 + Silent SNP G G A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 4 72110423 72110423 G A SNP DCK NM_000788 human genbank 54_36p +1 reviewed silent c.576 p.R192 0.997 superfamily_SSF52540,HMMPfam_dNK superfamily_SSF52540,HMMPfam_dNK - no_errors RAB11FIP5 26056 genome.wustl.edu 36 2 73169925 73169925 + Missense_Mutation SNP C C A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 2 73169925 73169925 C A SNP RAB11FIP5 NM_015470 human genbank 54_36p -1 validated missense c.458 p.G153V 1.000 superfamily_C2_CaLB superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_RBD-FIP - no_errors LOC400403 0 genome.wustl.edu 36 15 75977405 75977405 + RNA SNP G G A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 15 75977405 75977405 G A SNP LOC400403 XR_038194 human genbank 54_36p +1 model rna NULL NULL 0.042 - - - pseudogene SLC38A10 124565 genome.wustl.edu 36 17 76871854 76871854 + Missense_Mutation SNP C C G novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 17 76871854 76871854 C G SNP SLC38A10 NM_001037984 human genbank 54_36p -1 validated missense c.307 p.V103L 1.000 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors THRSP 7069 genome.wustl.edu 36 11 77452720 77452720 + Missense_Mutation SNP G G A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 11 77452720 77452720 G A SNP THRSP NM_003251 human genbank 54_36p +1 reviewed missense c.145 p.A49T 0.023 HMMPfam_Spot_14 HMMPfam_Spot_14 - no_errors KCTD21 283219 genome.wustl.edu 36 11 77562633 77562633 + Missense_Mutation SNP T T C novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 11 77562633 77562633 T C SNP KCTD21 NM_001029859 human genbank 54_36p -1 provisional missense c.616 p.K206E 1.000 NULL superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra - no_errors POLR3A 11128 genome.wustl.edu 36 10 79407343 79407343 + Missense_Mutation SNP C C G novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 10 79407343 79407343 C G SNP POLR3A NM_007055 human genbank 54_36p -1 validated missense c.4072 p.G1358R 1.000 superfamily_SSF64484 superfamily_SSF64484,HMMPfam_RNA_pol_Rpb1_1,HMMSmart_RPOLA_N,HMMPfam_RNA_pol_Rpb1_2,HMMPfam_RNA_pol_Rpb1_3,HMMPfam_RNA_pol_Rpb1_4,HMMPfam_RNA_pol_Rpb1_5 - no_errors SEMA3A 10371 genome.wustl.edu 36 7 83474645 83474645 + Missense_Mutation SNP A A C novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 7 83474645 83474645 A C SNP SEMA3A NM_006080 human genbank 54_36p -1 reviewed missense c.1100 p.V367G 1.000 superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig - no_errors DBF4 10926 genome.wustl.edu 36 7 87375356 87375356 + Missense_Mutation SNP A A T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 7 87375356 87375356 A T SNP DBF4 NM_006716 human genbank 54_36p +1 validated missense c.1967 p.D656V 0.457 NULL HMMPfam_zf-DBF,HMMSmart_SM00586 - no_errors ANKRD11 29123 genome.wustl.edu 36 16 87878987 87878987 + Missense_Mutation SNP A A T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 16 87878987 87878987 A T SNP ANKRD11 NM_013275 human genbank 54_36p -1 validated missense c.1464 p.S488R 0.860 superfamily_Ankyrin repeat superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors SAMD9L 219285 genome.wustl.edu 36 7 92599453 92599453 + Silent SNP G G A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 7 92599453 92599453 G A SNP SAMD9L NM_152703 human genbank 54_36p -1 validated silent c.3768 p.H1256 0.002 NULL superfamily_SAM/Pointed domain - no_errors MGAT4A 11320 genome.wustl.edu 36 2 98622746 98622746 + Missense_Mutation SNP C C A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 2 98622746 98622746 C A SNP MGAT4A NM_012214 human genbank 54_36p -1 reviewed missense c.1279 p.D427Y 1.000 NULL HMMPfam_Glyco_transf_54 - no_errors ST3GAL6 10402 genome.wustl.edu 36 3 99972425 99972425 + Silent SNP G G T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 3 99972425 99972425 G T SNP ST3GAL6 NM_006100 human genbank 54_36p +1 provisional silent c.102 p.V34 0.530 NULL HMMPfam_Glyco_transf_29 - no_errors LOC100128601 0 genome.wustl.edu 36 X 102228800 102228800 + RNA SNP A A G novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 X 102228800 102228800 A G SNP LOC100128601 XR_039021 human genbank 54_36p +1 model rna NULL NULL 0.197 - - - pseudogene ODF1 4956 genome.wustl.edu 36 8 103641995 103641995 + Missense_Mutation SNP C C G novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 8 103641995 103641995 C G SNP ODF1 NM_024410 human genbank 54_36p +1 reviewed missense c.460 p.R154G 0.988 superfamily_HSP20_chap superfamily_HSP20_chap - no_errors TUBE1 51175 genome.wustl.edu 36 6 112500765 112500765 + Missense_Mutation SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 6 112500765 112500765 C T SNP TUBE1 NM_016262 human genbank 54_36p -1 reviewed missense c.983 p.S328N 1.000 superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C - no_errors PGGT1B 5229 genome.wustl.edu 36 5 114580570 114580570 + Splice_Site SNP C C G novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 5 114580570 114580570 C G SNP PGGT1B NM_005023 human genbank 54_36p -1 validated splice_site c.844-1 e8-1 1.000 - - - no_errors WDR52 55779 genome.wustl.edu 36 3 114580976 114580976 + Missense_Mutation SNP A A T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 3 114580976 114580976 A T SNP WDR52 NM_018338 human genbank 54_36p -1 provisional missense c.2165 p.F722Y 0.002 NULL superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors QTRTD1 79691 genome.wustl.edu 36 3 115278352 115278352 + Nonsense_Mutation SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 3 115278352 115278352 C T SNP QTRTD1 NM_024638 human genbank 54_36p +1 provisional nonsense c.619 p.R207* 0.862 superfamily_tRNA_ribo_trans,HMMPfam_TGT superfamily_tRNA_ribo_trans,HMMPfam_TGT - no_errors CTTNBP2 83992 genome.wustl.edu 36 7 117151845 117151845 + Missense_Mutation SNP C C A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 7 117151845 117151845 C A SNP CTTNBP2 NM_033427 human genbank 54_36p -1 reviewed missense c.4439 p.S1480I 0.002 NULL HMMPfam_CortBP2,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors ERCC3 2071 genome.wustl.edu 36 2 127735342 127735342 + Missense_Mutation SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 2 127735342 127735342 C T SNP ERCC3 NM_000122 human genbank 54_36p -1 reviewed missense c.1996 p.D666N 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_ResIII,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors SPRR1B 6699 genome.wustl.edu 36 1 151271540 151271540 + Missense_Mutation SNP C C A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 1 151271540 151271540 C A SNP SPRR1B NM_003125 human genbank 54_36p +1 provisional missense c.95 p.P32Q 0.005 HMMPfam_Cornifin HMMPfam_Cornifin - no_errors TKTL1 8277 genome.wustl.edu 36 X 153194307 153194307 + Missense_Mutation SNP G G T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 X 153194307 153194307 G T SNP TKTL1 NM_012253 human genbank 54_36p +1 validated missense c.853 p.V285F 0.000 superfamily_Thiamin diphosphate-binding fold (THDP-binding) superfamily_Thiamin diphosphate-binding fold (THDP-binding),HMMPfam_Transketolase_N,HMMPfam_Transket_pyr,PatternScan_TRANSKETOLASE_2,superfamily_TK C-terminal domain-like,HMMPfam_Transketolase_C - no_errors ACVR1C 130399 genome.wustl.edu 36 2 158107515 158107515 + Nonsense_Mutation SNP G G C novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 2 158107515 158107515 G C SNP ACVR1C NM_145259 human genbank 54_36p -1 validated nonsense c.1049 p.S350* 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219,HMMPfam_Pkinase superfamily_Snake toxin-like,HMMPfam_Activin_recp,HMMPfam_TGF_beta_GS,HMMSmart_SM00467,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMSmart_SM00219,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors BNIP1 662 genome.wustl.edu 36 5 172523349 172523349 + Missense_Mutation SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 5 172523349 172523349 C T SNP BNIP1 NM_013979 human genbank 54_36p +1 reviewed missense c.635 p.T212M 1.000 HMMPfam_Sec20 HMMPfam_Sec20 - no_errors NCF2 4688 genome.wustl.edu 36 1 181806573 181806573 + Missense_Mutation SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 1 181806573 181806573 C T SNP NCF2 NM_000433 human genbank 54_36p -1 reviewed missense c.634 p.D212N 1.000 NULL superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF54277,HMMPfam_PB1,HMMSmart_PB1 - no_errors HES1 3280 genome.wustl.edu 36 3 195337512 195337512 + Silent SNP G G A novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 3 195337512 195337512 G A SNP HES1 NM_005524 human genbank 54_36p +1 reviewed silent c.273 p.L91 1.000 superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH,HMMPfam_Hairy_orange,HMMSmart_ORANGE - no_errors TOMM20 9804 genome.wustl.edu 36 1 233349831 233349831 + Missense_Mutation SNP C C T novel unknown TCGA-36-2538-01A-01D-1526-09 TCGA-36-2538-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx db4480de-2a4a-479b-b4cc-ac0e684c3348 a18e2616-db9b-4fa1-910f-92ca7e83b966 1 233349831 233349831 C T SNP TOMM20 NM_014765 human genbank 54_36p -1 validated missense c.175 p.D59N 1.000 HMMPfam_MAS20,superfamily_Mitochondrial import receptor subunit Tom20 HMMPfam_MAS20,superfamily_Mitochondrial import receptor subunit Tom20 - no_errors