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 ADAM32 0 genome.wustl.edu 37 8 39111964 39111964 + Missense_Mutation SNP C C T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 8 39111964 39111964 C T SNP ADAM32 ENST00000379907 human ensembl 69_37n +1 known missense c.1934 p.S645L 0.000 pfscan_EG-like_dom pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 44 0 0.00 39 10 20.41 - - - AIPL1 0 genome.wustl.edu 37 17 6337388 6337388 + Missense_Mutation SNP C C T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 17 6337388 6337388 C T SNP AIPL1 ENST00000381129 human ensembl 69_37n -1 known missense c.127 p.D43N 0.973 pfam_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors AIPL1 HGNC ENSG00000129221 45 0 0.00 31 5 13.89 - - - ATRNL1 0 genome.wustl.edu 37 10 116853435 116853435 + RNA SNP G G T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 10 116853435 116853435 G T SNP ATRNL1 ENST00000527407 human ensembl 69_37n +1 known rna NULL NULL 0.178 - - - no_errors ATRNL1 HGNC ENSG00000107518 103 0 0.00 41 40 49.38 - - - C10orf2 0 genome.wustl.edu 37 10 102750656 102750656 + Silent SNP C C T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 10 102750656 102750656 C T SNP C10orf2 ENST00000311916 human ensembl 69_37n +1 known silent c.1623 p.V541 0.999 pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 129 0 0.00 66 30 31.25 - - - C15orf55 0 genome.wustl.edu 37 15 34640201 34640201 + Missense_Mutation SNP G G T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 15 34640201 34640201 G T SNP C15orf55 ENST00000333756 human ensembl 69_37n +1 known missense c.48 p.M16I 0.992 NULL NULL - no_errors C15orf55 HGNC ENSG00000184507 30 0 0.00 13 6 31.58 - - - C19orf21 0 genome.wustl.edu 37 19 758149 758149 + Silent SNP G G A TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 19 758149 758149 G A SNP C19orf21 ENST00000215582 human ensembl 69_37n +1 known silent c.1203 p.P401 0.000 NULL NULL - no_errors C19orf21 HGNC ENSG00000099812 56 0 0.00 48 23 32.39 - - - CACNG7 0 genome.wustl.edu 37 19 54417817 54417817 + Missense_Mutation SNP C C T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 19 54417817 54417817 C T SNP CACNG7 ENST00000222212 human ensembl 69_37n +1 known missense c.260 p.T87M 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 49 0 0.00 25 11 30.56 - - - CORIN 0 genome.wustl.edu 37 4 47597910 47597910 + Missense_Mutation SNP C C T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 4 47597910 47597910 C T SNP CORIN ENST00000273857 human ensembl 69_37n -1 known missense c.2957 p.G986D 1.000 pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CORIN HGNC ENSG00000145244 31 0 0.00 27 4 12.90 - - - CPXCR1 0 genome.wustl.edu 37 X 88008507 88008507 + Missense_Mutation SNP T T A TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec X 88008507 88008507 T A SNP CPXCR1 ENST00000276127 human ensembl 69_37n +1 known missense c.92 p.I31K 0.002 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 63 0 0.00 33 6 15.38 - - - EFTUD1P1 0 genome.wustl.edu 37 15 84789912 84789912 + RNA SNP G G A TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 15 84789912 84789912 G A SNP EFTUD1P1 ENST00000560381 human ensembl 69_37n +1 known rna NULL NULL 0.999 - - - no_errors EFTUD1P1 HGNC ENSG00000259404 80 0 0.00 46 9 16.36 - - - FREM1 0 genome.wustl.edu 37 9 14806824 14806824 + Missense_Mutation SNP C C T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 9 14806824 14806824 C T SNP FREM1 ENST00000380881 human ensembl 69_37n -1 known missense c.3112 p.E1038K 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 31 0 0.00 33 6 15.38 - - - GATA3 0 genome.wustl.edu 37 10 8111433 8111434 + Splice_Site DEL CA CA - TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 10 8111433 8111434 CA - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known splice_site_del c.925-3_925-2 e4-2 1.000:1.000 - - - no_errors GATA3 HGNC ENSG00000107485 81 0 0 48 8 14.04 - - - GJE1 0 genome.wustl.edu 37 6 142455822 142455822 + Silent SNP G G A TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 6 142455822 142455822 G A SNP GJE1 ENST00000450456 human ensembl 69_37n +1 known silent c.381 p.A127 0.997 pfam_Connexin_CCC pfam_Connexin_CCC,pfam_Connexin_N - no_errors GJE1 HGNC ENSG00000203733 73 0 0.00 27 5 15.62 - - - LRRC25 0 genome.wustl.edu 37 19 18507240 18507240 + Silent SNP T T C TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 19 18507240 18507240 T C SNP LRRC25 ENST00000339007 human ensembl 69_37n -1 known silent c.534 p.G178 0.000 NULL NULL - no_errors LRRC25 HGNC ENSG00000175489 55 0 0.00 51 21 29.17 - - - METAP1 0 genome.wustl.edu 37 4 99955394 99955394 + Silent SNP G G T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 4 99955394 99955394 G T SNP METAP1 ENST00000296411 human ensembl 69_37n +1 known silent c.180 p.A60 0.933 NULL pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1 HGNC ENSG00000164024 21 0 0.00 10 12 54.55 - - - MUC12 0 genome.wustl.edu 37 7 100643116 100643116 + Missense_Mutation SNP C C T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 7 100643116 100643116 C T SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.9701 p.A3234V 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 21 0 0.00 43 7 14.00 - - - NEDD9 0 genome.wustl.edu 37 6 11185729 11185729 + Missense_Mutation SNP T T C TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 6 11185729 11185729 T C SNP NEDD9 ENST00000379446 human ensembl 69_37n -1 known missense c.2171 p.N724S 0.998 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 64 0 0.00 19 27 58.70 - - - NOS2 0 genome.wustl.edu 37 17 26116700 26116700 + Missense_Mutation SNP T T C TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 17 26116700 26116700 T C SNP NOS2 ENST00000313735 human ensembl 69_37n -1 known missense c.125 p.D42G 1.000 pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 47 0 0.00 22 5 18.52 - - - NRCAM 0 genome.wustl.edu 37 7 107823310 107823310 + Missense_Mutation SNP G G A TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 7 107823310 107823310 G A SNP NRCAM ENST00000379028 human ensembl 69_37n -1 known missense c.2359 p.R787C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NRCAM HGNC ENSG00000091129 42 0 0.00 35 24 40.68 - - - NYNRIN 0 genome.wustl.edu 37 14 24886207 24886207 + Missense_Mutation SNP C C T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 14 24886207 24886207 C T SNP NYNRIN ENST00000382554 human ensembl 69_37n +1 known missense c.5252 p.S1751F 0.916 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 42 0 0.00 23 24 51.06 - - - OSBPL5 0 genome.wustl.edu 37 11 3114834 3114834 + Silent SNP C C G TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 11 3114834 3114834 C G SNP OSBPL5 ENST00000263650 human ensembl 69_37n -1 known silent c.1869 p.P623 0.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 84 0 0.00 35 26 42.62 - - - OTUD4 0 genome.wustl.edu 37 4 146058951 146058953 + In_Frame_Del DEL TGT TGT - TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 4 146058951 146058953 TGT - DEL OTUD4 ENST00000447906 human ensembl 69_37n -1 known in_frame_del c.2976_2974 p.T992in_frame_del 1.000:1.000:0.936 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 53 0 0.00 30 18 37.50 - - - OTUD7A 0 genome.wustl.edu 37 15 31822945 31822945 + Missense_Mutation SNP C C T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 15 31822945 31822945 C T SNP OTUD7A ENST00000382902 human ensembl 69_37n -1 known missense c.617 p.G206E 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 89 0 0.00 54 6 10.00 - - - PDPR 0 genome.wustl.edu 37 16 70176575 70176575 + Missense_Mutation SNP A A G TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 16 70176575 70176575 A G SNP PDPR ENST00000288050 human ensembl 69_37n +1 known missense c.1591 p.K531E 1.000 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 70 0 0.00 36 5 12.20 - - - PKD1L1 0 genome.wustl.edu 37 7 47879188 47879188 + Missense_Mutation SNP C C G TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 7 47879188 47879188 C G SNP PKD1L1 ENST00000289672 human ensembl 69_37n -1 known missense c.5625 p.W1875C 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 90 0 0.00 57 50 46.73 - - - POM121 0 genome.wustl.edu 37 7 72416136 72416136 + Missense_Mutation SNP C C G TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 7 72416136 72416136 C G SNP POM121 ENST00000434423 human ensembl 69_37n +1 known missense c.3541 p.P1181A 0.988 NULL NULL - no_errors POM121 HGNC ENSG00000196313 105 0 0.00 88 45 33.83 - - - PRKD1 0 genome.wustl.edu 37 14 30099920 30099920 + Missense_Mutation SNP G G A TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 14 30099920 30099920 G A SNP PRKD1 ENST00000546371 human ensembl 69_37n -1 putative missense c.443 p.P148L 0.007 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_start_codon PRKD1 HGNC ENSG00000184304 48 0 0.00 22 39 63.93 - - - PRPF19 0 genome.wustl.edu 37 11 60670977 60670977 + Missense_Mutation SNP G G A TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 11 60670977 60670977 G A SNP PRPF19 ENST00000227524 human ensembl 69_37n -1 known missense c.200 p.S67L 1.000 pfam_Pre-mRNA_splic_Prp19,smart_Ubox_domain pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC ENSG00000110107 56 0 0.00 36 6 14.29 - - - RYR2 0 genome.wustl.edu 37 1 237777439 237777439 + Missense_Mutation SNP C C T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 1 237777439 237777439 C T SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.5005 p.R1669W 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 110 0 0.00 44 48 52.17 - - - SRSF8 0 genome.wustl.edu 37 11 94801915 94801915 + RNA SNP C C G TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 11 94801915 94801915 C G SNP SRSF8 ENST00000529911 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SRSF8 HGNC ENSG00000180771 64 0 0.00 25 23 47.92 - - - TIE1 0 genome.wustl.edu 37 1 43785333 43785333 + RNA SNP G G A TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 1 43785333 43785333 G A SNP TIE1 ENST00000473014 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TIE1 HGNC ENSG00000066056 8 0 0.00 10 4 28.57 - - - TUBGCP6 0 genome.wustl.edu 37 22 50659708 50659708 + Missense_Mutation SNP C C T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 22 50659708 50659708 C T SNP TUBGCP6 ENST00000248846 human ensembl 69_37n -1 known missense c.3080 p.G1027E 0.001 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC ENSG00000128159 54 0 0.00 43 18 29.51 - - - VAV3 0 genome.wustl.edu 37 1 108299953 108299953 + Splice_Site SNP T T C TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 1 108299953 108299953 T C SNP VAV3 ENST00000370056 human ensembl 69_37n -1 known splice_site c.1018-2 e11-2 1.000 - - - no_errors VAV3 HGNC ENSG00000134215 43 0 0.00 24 3 11.11 - - - WDR87 0 genome.wustl.edu 37 19 38377603 38377603 + Missense_Mutation SNP C C G TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 19 38377603 38377603 C G SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known missense c.6708 p.W2236C 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 56 0 0.00 43 18 29.51 - - - ZBTB20 0 genome.wustl.edu 37 3 114070183 114070183 + Missense_Mutation SNP A A T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 3 114070183 114070183 A T SNP ZBTB20 ENST00000474710 human ensembl 69_37n -1 known missense c.742 p.Y248N 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 46 0 0.00 20 19 48.72 - - - ZNF608 0 genome.wustl.edu 37 5 124036959 124036959 + Missense_Mutation SNP C C T TCGA-AC-A5EI-01A-11D-A27P-09 TCGA-AC-A5EI-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbdeaaa2-efd9-4442-997d-c7353f245f66 38f6baf0-4400-4c12-8eab-3e24d38e39ec 5 124036959 124036959 C T SNP ZNF608 ENST00000306315 human ensembl 69_37n -1 known missense c.910 p.D304N 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 56 0 0.00 53 9 14.52 - - -