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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All CNTLN 0 genome.wustl.edu 37 9 17486986 17486986 + Splice_Site SNP G G A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 9 17486986 17486986 G A SNP CNTLN ENST00000380647 human ensembl 69_37n +1 known splice_site c.4042-1 e25-1 1.000 - - - no_errors CNTLN HGNC ENSG00000044459 125 0 0.00 88 26 22.81 - - - CNTLN 0 genome.wustl.edu 37 9 17486986 17486986 + Splice_Site SNP G G A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 9 17486986 17486986 G A SNP CNTLN ENST00000380647 human ensembl 69_37n +1 known splice_site c.4042-1 e25-1 1.000 - - - no_errors CNTLN HGNC ENSG00000044459 164 0 0.00 88 26 22.81 - - - DCAF5 0 genome.wustl.edu 37 14 69520662 69520662 + Missense_Mutation SNP T T A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 14 69520662 69520662 T A SNP DCAF5 ENST00000341516 human ensembl 69_37n -1 known missense c.2741 p.H914L 0.992 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 40 0 0.00 124 44 26.19 - - - DCAF5 0 genome.wustl.edu 37 14 69520662 69520662 + Missense_Mutation SNP T T A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 14 69520662 69520662 T A SNP DCAF5 ENST00000341516 human ensembl 69_37n -1 known missense c.2741 p.H914L 0.992 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 64 0 0.00 124 44 26.19 - - - DCUN1D2 0 genome.wustl.edu 37 13 114138226 114138226 + Missense_Mutation SNP G G A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 13 114138226 114138226 G A SNP DCUN1D2 ENST00000478244 human ensembl 69_37n -1 known missense c.149 p.S50L 0.975 NULL pfam_PONY_dom,superfamily_UBA-like - no_errors DCUN1D2 HGNC ENSG00000150401 26 0 0.00 61 11 15.28 - - - DCUN1D2 0 genome.wustl.edu 37 13 114138226 114138226 + Missense_Mutation SNP G G A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 13 114138226 114138226 G A SNP DCUN1D2 ENST00000478244 human ensembl 69_37n -1 known missense c.149 p.S50L 0.975 NULL pfam_PONY_dom,superfamily_UBA-like - no_errors DCUN1D2 HGNC ENSG00000150401 38 0 0.00 61 11 15.28 - - - DDB1 0 genome.wustl.edu 37 11 61093120 61093120 + Missense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 11 61093120 61093120 C T SNP DDB1 ENST00000301764 human ensembl 69_37n -1 known missense c.725 p.G242D 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 62 0 0.00 101 65 39.16 - - - DDB1 0 genome.wustl.edu 37 11 61093120 61093120 + Missense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 11 61093120 61093120 C T SNP DDB1 ENST00000301764 human ensembl 69_37n -1 known missense c.725 p.G242D 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 88 0 0.00 101 65 39.16 - - - DMKN 0 genome.wustl.edu 37 19 35999142 35999142 + Missense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 19 35999142 35999142 C T SNP DMKN ENST00000419602 human ensembl 69_37n -1 known missense c.856 p.G286S 0.003 NULL NULL - no_errors DMKN HGNC ENSG00000161249 73 0 0.00 118 43 26.71 - - - ENSG00000210191 0 genome.wustl.edu 37 MT 12327 12327 + RNA SNP A A G TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 MT 12327 12327 A G SNP ENSG00000210191 ENST00000387456 human ensembl 69_37n +1 known rna NULL NULL NULL - - - no_errors J01415.20 Clone_based_ensembl_gene ENSG00000210191 19 0 0.00 4 2 33.33 - - - EP400 0 genome.wustl.edu 37 12 132498069 132498069 + Missense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 12 132498069 132498069 C T SNP EP400 ENST00000333577 human ensembl 69_37n +1 known missense c.3754 p.H1252Y 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 30 0 0.00 60 31 34.07 - - - EP400 0 genome.wustl.edu 37 12 132498069 132498069 + Missense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 12 132498069 132498069 C T SNP EP400 ENST00000333577 human ensembl 69_37n +1 known missense c.3754 p.H1252Y 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 34 0 0.00 60 31 34.07 - - - FAIM3 0 genome.wustl.edu 37 1 207086340 207086341 + Frame_Shift_Ins INS - - T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 1 207086340 207086341 - T INS FAIM3 ENST00000367091 human ensembl 69_37n -1 known frame_shift_ins c.421_420 p.W140fs 0.272:0.014 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub - no_errors FAIM3 HGNC ENSG00000162894 102 0 0.00 90 80 47.06 - - - FAIM3 0 genome.wustl.edu 37 1 207086340 207086341 + Frame_Shift_Ins INS - - T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 1 207086340 207086341 - T INS FAIM3 ENST00000367091 human ensembl 69_37n -1 known frame_shift_ins c.421_420 p.W140fs 0.272:0.014 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub - no_errors FAIM3 HGNC ENSG00000162894 68 0 0.00 90 80 47.06 - - - FCGBP 0 genome.wustl.edu 37 19 40368619 40368619 + Silent SNP G G A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 19 40368619 40368619 G A SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known silent c.12729 p.G4243 0.496 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 46 0 0.00 241 32 11.72 - - - FHAD1 0 genome.wustl.edu 37 1 15708607 15708607 + Missense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 1 15708607 15708607 C T SNP FHAD1 ENST00000375999 human ensembl 69_37n +1 known missense c.4040 p.A1347V 0.999 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 13 0 0.00 35 55 61.11 - - - FHAD1 0 genome.wustl.edu 37 1 15708607 15708607 + Missense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 1 15708607 15708607 C T SNP FHAD1 ENST00000375999 human ensembl 69_37n +1 known missense c.4040 p.A1347V 0.999 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 20 0 0.00 35 55 61.11 - - - FOLR4 0 genome.wustl.edu 37 11 94040778 94040788 + Frame_Shift_Del DEL CTCTTCGCCAG CTCTTCGCCAG - TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 CTCTTCGCCAG CTCTTCGCCAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 11 94040778 94040788 CTCTTCGCCAG - DEL FOLR4 ENST00000440961 human ensembl 69_37n +1 novel frame_shift_del c.652_662 p.F219fs 0.003:0.002:0.014:0.018:0.012:0.007:0.288:0.315:0.009:0.006:0.000 NULL pfam_Folate_rcpt-like - no_errors FOLR4 HGNC ENSG00000183560 26 0 0.00 78 9 10.34 - - - FOLR4 0 genome.wustl.edu 37 11 94040778 94040788 + Frame_Shift_Del DEL CTCTTCGCCAG CTCTTCGCCAG - TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 CTCTTCGCCAG CTCTTCGCCAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 11 94040778 94040788 CTCTTCGCCAG - DEL FOLR4 ENST00000440961 human ensembl 69_37n +1 novel frame_shift_del c.652_662 p.F219fs 0.003:0.002:0.014:0.018:0.012:0.007:0.288:0.315:0.009:0.006:0.000 NULL pfam_Folate_rcpt-like - no_errors FOLR4 HGNC ENSG00000183560 35 0 0.00 78 9 10.34 - - - GIMAP8 0 genome.wustl.edu 37 7 150171600 150171634 + Frame_Shift_Del DEL AGATATAGTGCCTTCAACTACCGGGCAACAGGAGA AGATATAGTGCCTTCAACTACCGGGCAACAGGAGA - TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 AGATATAGTGCCTTCAACTACCGGGCAACAGGAGA AGATATAGTGCCTTCAACTACCGGGCAACAGGAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 7 150171600 150171634 AGATATAGTGCCTTCAACTACCGGGCAACAGGAGA - DEL GIMAP8 ENST00000307271 human ensembl 69_37n +1 known frame_shift_del c.1183_1217 p.Y396fs 0.000:0.004:0.000:0.016:0.012:0.003:0.000:0.000:0.000:0.000:0.001:0.464:0.880:0.952:0.961:0.967:0.968:0.973:0.969:0.901:0.861:0.133:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 pfam_AIG1 pfam_AIG1 - no_errors GIMAP8 HGNC ENSG00000171115 38 0 0.00 97 13 11.82 - - - GRHL2 0 genome.wustl.edu 37 8 102570699 102570699 + Nonsense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 8 102570699 102570699 C T SNP GRHL2 ENST00000251808 human ensembl 69_37n +1 known nonsense c.337 p.R113* 1.000 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 56 0 0.00 99 38 27.74 - - - GRHL2 0 genome.wustl.edu 37 8 102570699 102570699 + Nonsense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 8 102570699 102570699 C T SNP GRHL2 ENST00000251808 human ensembl 69_37n +1 known nonsense c.337 p.R113* 1.000 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 86 0 0.00 99 38 27.74 - - - HSDL2 0 genome.wustl.edu 37 9 115167969 115167969 + Missense_Mutation SNP G G C TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 9 115167969 115167969 G C SNP HSDL2 ENST00000398805 human ensembl 69_37n +1 known missense c.247 p.A83P 0.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH - no_errors HSDL2 HGNC ENSG00000119471 132 0 0.00 85 26 23.42 - - - HSDL2 0 genome.wustl.edu 37 9 115167969 115167969 + Missense_Mutation SNP G G C TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 9 115167969 115167969 G C SNP HSDL2 ENST00000398805 human ensembl 69_37n +1 known missense c.247 p.A83P 0.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH - no_errors HSDL2 HGNC ENSG00000119471 94 0 0.00 85 26 23.42 - - - LGI2 0 genome.wustl.edu 37 4 25005663 25005663 + Silent SNP G G A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 4 25005663 25005663 G A SNP LGI2 ENST00000382114 human ensembl 69_37n -1 known silent c.1048 p.L350 0.488 pfam_EPTP,pfscan_EAR pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 61 0 0.00 135 37 21.51 - - - LGI2 0 genome.wustl.edu 37 4 25005663 25005663 + Silent SNP G G A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 4 25005663 25005663 G A SNP LGI2 ENST00000382114 human ensembl 69_37n -1 known silent c.1048 p.L350 0.488 pfam_EPTP,pfscan_EAR pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 82 0 0.00 135 37 21.51 - - - LSM11 0 genome.wustl.edu 37 5 157178496 157178496 + Missense_Mutation SNP T T C TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 5 157178496 157178496 T C SNP LSM11 ENST00000286307 human ensembl 69_37n +1 known missense c.547 p.C183R 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM11 HGNC ENSG00000155858 60 0 0.00 73 48 39.34 - - - LSM11 0 genome.wustl.edu 37 5 157178496 157178496 + Missense_Mutation SNP T T C TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 5 157178496 157178496 T C SNP LSM11 ENST00000286307 human ensembl 69_37n +1 known missense c.547 p.C183R 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM11 HGNC ENSG00000155858 76 0 0.00 73 48 39.34 - - - MIR410 0 genome.wustl.edu 37 14 101532265 101532265 + RNA SNP T T A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 14 101532265 101532265 T A SNP MIR410 ENST00000362222 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MIR410 HGNC ENSG00000199092 63 0 0.00 113 42 26.75 - - - MIR410 0 genome.wustl.edu 37 14 101532265 101532265 + RNA SNP T T A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 14 101532265 101532265 T A SNP MIR410 ENST00000362222 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MIR410 HGNC ENSG00000199092 82 0 0.00 113 42 26.75 - - - MT-CYB 0 genome.wustl.edu 37 MT 14934 14934 + Missense_Mutation SNP T T C TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 MT 14934 14934 T C SNP MT-CYB ENST00000361789 human ensembl 69_37n +1 known missense c.188 p.F63S NULL pfam_Di-haem_cyt_TM,superfamily_Di-haem_cyt_TM,pfscan_Cyt_b/b6_N pfam_Cyt_b/b6_C,pfam_Di-haem_cyt_TM,superfamily_Di-haem_cyt_TM,superfamily_Cyt_b/b6_C,pfscan_Cyt_b/b6_N,pfscan_Cyt_b/b6_C - no_stop_codon:bad_bp_length_for_coding_region MT-CYB HGNC ENSG00000198727 120 0 0.00 43 8 15.69 - - - MT-CYB 0 genome.wustl.edu 37 MT 14934 14934 + Missense_Mutation SNP T T C TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 MT 14934 14934 T C SNP MT-CYB ENST00000361789 human ensembl 69_37n +1 known missense c.188 p.F63S NULL pfam_Di-haem_cyt_TM,superfamily_Di-haem_cyt_TM,pfscan_Cyt_b/b6_N pfam_Cyt_b/b6_C,pfam_Di-haem_cyt_TM,superfamily_Di-haem_cyt_TM,superfamily_Cyt_b/b6_C,pfscan_Cyt_b/b6_N,pfscan_Cyt_b/b6_C - no_stop_codon:bad_bp_length_for_coding_region MT-CYB HGNC ENSG00000198727 89 0 0.00 43 8 15.69 - - - MT-ND1 0 genome.wustl.edu 37 MT 4100 4100 + Missense_Mutation SNP T T C TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 MT 4100 4100 T C SNP MT-ND1 ENST00000361390 human ensembl 69_37n +1 known missense c.794 p.L265P NULL pfam_NADH_UbQ_OxRdtase_su1/FPO pfam_NADH_UbQ_OxRdtase_su1/FPO - no_stop_codon MT-ND1 HGNC ENSG00000198888 10 0 0.00 3 3 50.00 - - - MT-ND1 0 genome.wustl.edu 37 MT 4100 4100 + Missense_Mutation SNP T T C TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 MT 4100 4100 T C SNP MT-ND1 ENST00000361390 human ensembl 69_37n +1 known missense c.794 p.L265P NULL pfam_NADH_UbQ_OxRdtase_su1/FPO pfam_NADH_UbQ_OxRdtase_su1/FPO - no_stop_codon MT-ND1 HGNC ENSG00000198888 15 0 0.00 3 3 50.00 - - - NCOR1 0 genome.wustl.edu 37 17 15983302 15983302 + Missense_Mutation SNP T T A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 17 15983302 15983302 T A SNP NCOR1 ENST00000395849 human ensembl 69_37n -1 novel missense c.20 p.H7L 0.525 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NCOR1 HGNC ENSG00000141027 131 0 0.00 159 40 20.10 - - - NCOR1 0 genome.wustl.edu 37 17 15983302 15983302 + Missense_Mutation SNP T T A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 17 15983302 15983302 T A SNP NCOR1 ENST00000395849 human ensembl 69_37n -1 novel missense c.20 p.H7L 0.525 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NCOR1 HGNC ENSG00000141027 176 0 0.00 159 40 20.10 - - - OR2C3 0 genome.wustl.edu 37 1 247695646 247695646 + Silent SNP G G A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 1 247695646 247695646 G A SNP OR2C3 ENST00000366487 human ensembl 69_37n -1 known silent c.168 p.L56 0.999 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2C3 HGNC ENSG00000196242 76 0 0.00 104 109 51.17 - - - OR2C3 0 genome.wustl.edu 37 1 247695646 247695646 + Silent SNP G G A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 1 247695646 247695646 G A SNP OR2C3 ENST00000366487 human ensembl 69_37n -1 known silent c.168 p.L56 0.999 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2C3 HGNC ENSG00000196242 97 0 0.00 104 109 51.17 - - - OR4A15 0 genome.wustl.edu 37 11 55136222 55136222 + Missense_Mutation SNP G G T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 11 55136222 55136222 G T SNP OR4A15 ENST00000314706 human ensembl 69_37n +1 known missense c.863 p.R288M 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4A15 HGNC ENSG00000181958 301 0 0.00 218 49 18.35 - - - OR4A15 0 genome.wustl.edu 37 11 55136222 55136222 + Missense_Mutation SNP G G T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 11 55136222 55136222 G T SNP OR4A15 ENST00000314706 human ensembl 69_37n +1 known missense c.863 p.R288M 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4A15 HGNC ENSG00000181958 384 0 0.00 218 49 18.35 - - - OR4D10 0 genome.wustl.edu 37 11 59245446 59245446 + Missense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 11 59245446 59245446 C T SNP OR4D10 ENST00000530162 human ensembl 69_37n +1 known missense c.544 p.H182Y 0.587 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 65 0 0.00 59 50 45.87 - - - OR4D10 0 genome.wustl.edu 37 11 59245446 59245446 + Missense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 11 59245446 59245446 C T SNP OR4D10 ENST00000530162 human ensembl 69_37n +1 known missense c.544 p.H182Y 0.587 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 95 0 0.00 59 50 45.87 - - - P2RY1 0 genome.wustl.edu 37 3 152554206 152554206 + Missense_Mutation SNP G G A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 3 152554206 152554206 G A SNP P2RY1 ENST00000305097 human ensembl 69_37n +1 known missense c.635 p.R212Q 0.999 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors P2RY1 HGNC ENSG00000169860 118 0 0.00 136 34 20.00 - - - P2RY1 0 genome.wustl.edu 37 3 152554206 152554206 + Missense_Mutation SNP G G A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 3 152554206 152554206 G A SNP P2RY1 ENST00000305097 human ensembl 69_37n +1 known missense c.635 p.R212Q 0.999 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors P2RY1 HGNC ENSG00000169860 83 0 0.00 136 34 20.00 - - - PCED1B 0 genome.wustl.edu 37 12 47629963 47629963 + Missense_Mutation SNP T T A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 12 47629963 47629963 T A SNP PCED1B ENST00000432328 human ensembl 69_37n +1 known missense c.1117 p.F373I 0.023 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1B HGNC ENSG00000179715 103 0 0.00 93 17 15.45 - - - PCED1B 0 genome.wustl.edu 37 12 47629963 47629963 + Missense_Mutation SNP T T A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 12 47629963 47629963 T A SNP PCED1B ENST00000432328 human ensembl 69_37n +1 known missense c.1117 p.F373I 0.023 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1B HGNC ENSG00000179715 77 0 0.00 93 17 15.45 - - - PIK3CA 0 genome.wustl.edu 37 3 178936074 178936074 + Missense_Mutation SNP C C G TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 3 178936074 178936074 C G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1616 p.P539R 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 126 0 0.00 98 75 43.10 - - - PIK3CA 0 genome.wustl.edu 37 3 178936074 178936074 + Missense_Mutation SNP C C G TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 3 178936074 178936074 C G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1616 p.P539R 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 156 0 0.00 98 75 43.10 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 100 0 0.00 60 25 29.41 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 82 0 0.00 60 25 29.41 - - - RARS 0 genome.wustl.edu 37 5 167927622 167927622 + Missense_Mutation SNP G G C TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 5 167927622 167927622 G C SNP RARS ENST00000231572 human ensembl 69_37n +1 known missense c.849 p.E283D 0.969 pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia - no_errors RARS HGNC ENSG00000113643 144 0 0.00 113 63 35.59 - - - RARS 0 genome.wustl.edu 37 5 167927622 167927622 + Missense_Mutation SNP G G C TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 5 167927622 167927622 G C SNP RARS ENST00000231572 human ensembl 69_37n +1 known missense c.849 p.E283D 0.969 pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia - no_errors RARS HGNC ENSG00000113643 196 0 0.00 113 63 35.59 - - - RHAG 0 genome.wustl.edu 37 6 49580246 49580246 + Missense_Mutation SNP A A G TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 6 49580246 49580246 A G SNP RHAG ENST00000371175 human ensembl 69_37n -1 known missense c.809 p.V270A 1.000 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHAG HGNC ENSG00000112077 32 0 0.00 35 25 41.67 - - - RHAG 0 genome.wustl.edu 37 6 49580246 49580246 + Missense_Mutation SNP A A G TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 6 49580246 49580246 A G SNP RHAG ENST00000371175 human ensembl 69_37n -1 known missense c.809 p.V270A 1.000 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHAG HGNC ENSG00000112077 54 0 0.00 35 25 41.67 - - - RNLS 0 genome.wustl.edu 37 10 90332770 90332772 + In_Frame_Del DEL TCT TCT - TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 10 90332770 90332772 TCT - DEL RNLS ENST00000331772 human ensembl 69_37n -1 known in_frame_del c.416_414 p.RD138in_frame_delS 0.035:0.010:0.007 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 114 0 0.00 176 33 15.64 - - - RNLS 0 genome.wustl.edu 37 10 90332770 90332772 + In_Frame_Del DEL TCT TCT - TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 10 90332770 90332772 TCT - DEL RNLS ENST00000331772 human ensembl 69_37n -1 known in_frame_del c.416_414 p.RD138in_frame_delS 0.035:0.010:0.007 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 83 0 0.00 176 33 15.64 - - - SERPINE3 0 genome.wustl.edu 37 13 51922387 51922387 + Missense_Mutation SNP C C A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 13 51922387 51922387 C A SNP SERPINE3 ENST00000521255 human ensembl 69_37n +1 known missense c.739 p.L247M 0.996 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINE3 HGNC ENSG00000253309 28 0 0.00 134 28 17.28 - - - SERPINE3 0 genome.wustl.edu 37 13 51922387 51922387 + Missense_Mutation SNP C C A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 13 51922387 51922387 C A SNP SERPINE3 ENST00000521255 human ensembl 69_37n +1 known missense c.739 p.L247M 0.996 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINE3 HGNC ENSG00000253309 41 0 0.00 134 28 17.28 - - - SORCS3 0 genome.wustl.edu 37 10 106974227 106974227 + Silent SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 10 106974227 106974227 C T SNP SORCS3 ENST00000369701 human ensembl 69_37n +1 known silent c.2403 p.C801 1.000 superfamily_PKD_dom,smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 49 0 0.00 83 18 17.82 - - - SORCS3 0 genome.wustl.edu 37 10 106974227 106974227 + Silent SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 10 106974227 106974227 C T SNP SORCS3 ENST00000369701 human ensembl 69_37n +1 known silent c.2403 p.C801 1.000 superfamily_PKD_dom,smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 61 0 0.00 83 18 17.82 - - - SPEN 0 genome.wustl.edu 37 1 16257012 16257012 + Nonsense_Mutation SNP T T A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 1 16257012 16257012 T A SNP SPEN ENST00000375759 human ensembl 69_37n +1 known nonsense c.4277 p.L1426* 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 62 0 0.00 37 86 69.92 - - - SPEN 0 genome.wustl.edu 37 1 16257012 16257012 + Nonsense_Mutation SNP T T A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 1 16257012 16257012 T A SNP SPEN ENST00000375759 human ensembl 69_37n +1 known nonsense c.4277 p.L1426* 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 80 0 0.00 37 86 69.92 - - - TMEM151B 0 genome.wustl.edu 37 6 44241139 44241139 + Nonsense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 6 44241139 44241139 C T SNP TMEM151B ENST00000451188 human ensembl 69_37n +1 known nonsense c.472 p.Q158* 1.000 NULL NULL - no_errors TMEM151B HGNC ENSG00000178233 17 0 0.00 53 13 19.70 - - - TMEM151B 0 genome.wustl.edu 37 6 44241139 44241139 + Nonsense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 6 44241139 44241139 C T SNP TMEM151B ENST00000451188 human ensembl 69_37n +1 known nonsense c.472 p.Q158* 1.000 NULL NULL - no_errors TMEM151B HGNC ENSG00000178233 19 0 0.00 53 13 19.70 - - - TTN 0 genome.wustl.edu 37 2 179585182 179585182 + Silent SNP G G A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 2 179585182 179585182 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.19575 p.V6525 0.069 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 170 0 0.00 160 52 24.41 - - - TTN 0 genome.wustl.edu 37 2 179585182 179585182 + Silent SNP G G A TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 2 179585182 179585182 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.19575 p.V6525 0.069 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 226 0 0.00 160 52 24.41 - - - UBE2E3 0 genome.wustl.edu 37 2 181925537 181925537 + Missense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 2 181925537 181925537 C T SNP UBE2E3 ENST00000392415 human ensembl 69_37n +1 known missense c.524 p.P175L 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2E3 HGNC ENSG00000170035 147 0 0.00 164 41 20.00 - - - UBE2E3 0 genome.wustl.edu 37 2 181925537 181925537 + Missense_Mutation SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 2 181925537 181925537 C T SNP UBE2E3 ENST00000392415 human ensembl 69_37n +1 known missense c.524 p.P175L 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2E3 HGNC ENSG00000170035 194 1 0.51 164 41 20.00 - - - ZNF658 0 genome.wustl.edu 37 9 40775035 40775035 + Silent SNP C C T TCGA-B6-A0RO-01A-22D-A099-09 TCGA-B6-A0RO-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 05e12ff8-023b-4ac1-b35d-f97b42e3da7a 87703b5d-774a-4a75-9bbf-cb58f58adcc4 9 40775035 40775035 C T SNP ZNF658 ENST00000377626 human ensembl 69_37n -1 known silent c.240 p.G80 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF658 HGNC ENSG00000196409 25 0 0.00 16 3 15.79 - - -