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 CD1E 0 genome.wustl.edu 37 1 158326377 158326377 + Nonsense_Mutation SNP C C T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 1 158326377 158326377 C T SNP CD1E ENST00000368167 human ensembl 69_37n +1 known nonsense c.994 p.Q332* 0.011 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1E HGNC ENSG00000158488 61 0 0.00 54 13 19.40 - - - CDYL 0 genome.wustl.edu 37 6 4937916 4937916 + Nonsense_Mutation SNP C C T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 6 4937916 4937916 C T SNP CDYL ENST00000328908 human ensembl 69_37n +1 known nonsense c.1228 p.R410* 1.000 pfam_Crotonase_core pfam_Crotonase_core,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 51 0 0.00 41 7 14.58 - - - CEP192 0 genome.wustl.edu 37 18 13055944 13055944 + Nonsense_Mutation SNP G G T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 18 13055944 13055944 G T SNP CEP192 ENST00000506447 human ensembl 69_37n +1 known nonsense c.3355 p.E1119* 0.046 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 27 0 0.00 17 3 15.00 - - - DENND1A 0 genome.wustl.edu 37 9 126554879 126554879 + Missense_Mutation SNP T T A TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 9 126554879 126554879 T A SNP DENND1A ENST00000373624 human ensembl 69_37n -1 known missense c.119 p.D40V 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 45 0 0.00 29 5 14.71 - - - DSG2 0 genome.wustl.edu 37 18 29098201 29098201 + Splice_Site SNP G G T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 18 29098201 29098201 G T SNP DSG2 ENST00000261590 human ensembl 69_37n +1 known splice_site c.46-1 e2-1 1.000 - - - no_errors DSG2 HGNC ENSG00000046604 52 0 0.00 32 4 11.11 - - - EGFL8 0 genome.wustl.edu 37 6 32135279 32135279 + Splice_Site SNP G G A TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 6 32135279 32135279 G A SNP EGFL8 ENST00000422437 human ensembl 69_37n +1 known splice_site c.906-1 e10-1 1.000 - - - no_errors XXbac-BPG300A18.12 Clone_based_vega_gene ENSG00000258388 10 0 0.00 11 4 26.67 - - - FAT1 0 genome.wustl.edu 37 4 187541477 187541477 + Missense_Mutation SNP G G A TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 4 187541477 187541477 G A SNP FAT1 ENST00000441802 human ensembl 69_37n -1 known missense c.6263 p.A2088V 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 53 0 0.00 38 7 15.56 - - - FOXA1 0 genome.wustl.edu 37 14 38061461 38061461 + Missense_Mutation SNP G G C TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 14 38061461 38061461 G C SNP FOXA1 ENST00000250448 human ensembl 69_37n -1 known missense c.528 p.I176M 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 93 0 0.00 67 15 18.29 - - - GLP1R 0 genome.wustl.edu 37 6 39033993 39033993 + Silent SNP C C G TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 6 39033993 39033993 C G SNP GLP1R ENST00000373256 human ensembl 69_37n +1 known silent c.423 p.L141 0.998 prints_GPCR_2_GLP1_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GLP1R HGNC ENSG00000112164 67 0 0.00 51 24 32.00 - - - GRIK1 0 genome.wustl.edu 37 21 31066223 31066223 + Missense_Mutation SNP G G A TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 21 31066223 31066223 G A SNP GRIK1 ENST00000535441 human ensembl 69_37n -1 known missense c.278 p.S93L 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 36 0 0.00 33 10 23.26 - - - KIF4A 0 genome.wustl.edu 37 X 69615826 69615826 + Missense_Mutation SNP C C T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 X 69615826 69615826 C T SNP KIF4A ENST00000374403 human ensembl 69_37n +1 known missense c.2416 p.R806C 0.017 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 52 0 0.00 31 6 16.22 - - - LINC00200 0 genome.wustl.edu 37 10 1205784 1205784 + RNA SNP G G A TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 10 1205784 1205784 G A SNP LINC00200 ENST00000425630 human ensembl 69_37n +1 known rna NULL NULL 0.008 - - - no_errors LINC00200 HGNC ENSG00000229205 53 0 0.00 33 5 13.16 - - - MAP3K1 0 genome.wustl.edu 37 5 56168740 56168740 + Nonsense_Mutation SNP C C T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 5 56168740 56168740 C T SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel nonsense c.1594 p.R532* 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 35 0 0.00 21 9 30.00 - - - MDN1 0 genome.wustl.edu 37 6 90371925 90371925 + Missense_Mutation SNP A A C TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 6 90371925 90371925 A C SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.14446 p.L4816V 0.978 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 52 0 0.00 42 12 22.22 - - - OR10J1 0 genome.wustl.edu 37 1 159409829 159409829 + Missense_Mutation SNP C C T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 1 159409829 159409829 C T SNP OR10J1 ENST00000423932 human ensembl 69_37n +1 known missense c.281 p.S94F 0.012 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 83 0 0.00 69 19 21.59 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 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 19 0 0.00 16 5 23.81 - - - PTCD2 0 genome.wustl.edu 37 5 71654103 71654103 + Missense_Mutation SNP T T C TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 5 71654103 71654103 T C SNP PTCD2 ENST00000308077 human ensembl 69_37n +1 known missense c.1016 p.L339P 0.960 NULL pfam_Ribosomal_S27_mit,tigrfam_Pentatricopeptide_repeat - no_errors PTCD2 HGNC ENSG00000049883 29 0 0.00 24 5 17.24 - - - QRICH1 0 genome.wustl.edu 37 3 49084617 49084617 + Silent SNP A A G TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 3 49084617 49084617 A G SNP QRICH1 ENST00000357496 human ensembl 69_37n -1 known silent c.1401 p.L467 0.998 NULL pfam_DUF3504,superfamily_DEATH-like - no_errors QRICH1 HGNC ENSG00000198218 51 0 0.00 28 4 12.50 - - - RGS7 0 genome.wustl.edu 37 1 240990425 240990425 + Missense_Mutation SNP T T G TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 1 240990425 240990425 T G SNP RGS7 ENST00000407727 human ensembl 69_37n -1 known missense c.657 p.R219S 1.000 NULL pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS7 HGNC ENSG00000182901 68 0 0.00 70 19 21.35 - - - RIC8B 0 genome.wustl.edu 37 12 107236511 107236511 + Missense_Mutation SNP G G T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 12 107236511 107236511 G T SNP RIC8B ENST00000392837 human ensembl 69_37n +1 known missense c.981 p.L327F 1.000 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8B HGNC ENSG00000111785 33 0 0.00 23 3 11.54 - - - RNF126P1 0 genome.wustl.edu 37 17 55123115 55123115 + RNA SNP G G A TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 17 55123115 55123115 G A SNP RNF126P1 ENST00000567452 human ensembl 69_37n +1 known rna NULL NULL 0.991 - - - no_errors RNF126P1 HGNC ENSG00000261192 65 0 0.00 25 6 19.35 - - - SEC14L6 0 genome.wustl.edu 37 22 30928606 30928606 + Missense_Mutation SNP C C A TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 22 30928606 30928606 C A SNP SEC14L6 ENST00000402034 human ensembl 69_37n -1 novel missense c.329 p.G110V 0.998 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L6 HGNC ENSG00000214491 28 0 0.00 21 6 22.22 - - - SHARPIN 0 genome.wustl.edu 37 8 145162933 145162933 + RNA SNP G G T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 8 145162933 145162933 G T SNP SHARPIN ENST00000533184 human ensembl 69_37n -1 known rna NULL NULL 0.039 - - - no_errors SHARPIN HGNC ENSG00000179526 50 0 0.00 36 7 16.28 - - - SNORA14A 0 genome.wustl.edu 37 7 75573208 75573208 + RNA SNP C C T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 7 75573208 75573208 C T SNP SNORA14A ENST00000364773 human ensembl 69_37n +1 known rna NULL NULL 0.542 - - - no_errors SNORA14A HGNC ENSG00000201643 33 0 0.00 18 4 18.18 - - - SPEF2 0 genome.wustl.edu 37 5 35654760 35654760 + Nonsense_Mutation SNP C C T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 5 35654760 35654760 C T SNP SPEF2 ENST00000356031 human ensembl 69_37n +1 known nonsense c.910 p.R304* 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 26 0 0.00 27 4 12.90 - - - TMEM106C 0 genome.wustl.edu 37 12 48360468 48360468 + Missense_Mutation SNP G G A TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 12 48360468 48360468 G A SNP TMEM106C ENST00000547682 human ensembl 69_37n +1 putative missense c.157 p.E53K 1.000 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TMEM106C HGNC ENSG00000134291 36 0 0.00 33 6 15.38 - - - TPSB2 0 genome.wustl.edu 37 16 1279438 1279438 + Missense_Mutation SNP C C T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 16 1279438 1279438 C T SNP TPSB2 ENST00000430512 human ensembl 69_37n -1 known missense c.253 p.A85T 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSB2 HGNC ENSG00000197253 9 0 0.00 1 3 75.00 - - - TRIM3 0 genome.wustl.edu 37 11 6477810 6477810 + Missense_Mutation SNP C C A TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 11 6477810 6477810 C A SNP TRIM3 ENST00000345851 human ensembl 69_37n -1 known missense c.1146 p.K382N 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 21 0 0.00 12 3 20.00 - - - TRIM55 0 genome.wustl.edu 37 8 67049371 67049371 + Silent SNP C C T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 8 67049371 67049371 C T SNP TRIM55 ENST00000315962 human ensembl 69_37n +1 known silent c.549 p.N183 0.834 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 43 0 0.00 29 9 23.68 - - - UNC45A 0 genome.wustl.edu 37 15 91496400 91496400 + Missense_Mutation SNP G G A TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 15 91496400 91496400 G A SNP UNC45A ENST00000418476 human ensembl 69_37n +1 known missense c.2437 p.E813K 1.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 28 0 0.00 20 5 20.00 - - - UROC1 0 genome.wustl.edu 37 3 126224610 126224610 + Silent SNP G G A TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 3 126224610 126224610 G A SNP UROC1 ENST00000290868 human ensembl 69_37n -1 known silent c.747 p.L249 0.687 pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 57 0 0.00 47 8 14.55 - - - ZXDB 0 genome.wustl.edu 37 X 57619454 57619455 + Frame_Shift_Ins INS - - T TCGA-OK-A5Q2-01A-11D-A27P-09 TCGA-OK-A5Q2-10A-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 02b5a2c4-832d-4c8b-b4f2-be0566eb6677 2edb9fb8-7415-47ba-a52b-95925bfa3677 X 57619454 57619455 - T INS ZXDB ENST00000374888 human ensembl 69_37n +1 known frame_shift_ins c.973_974 p.Q326fs 1.000:1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC ENSG00000198455 64 0 0.00 49 9 15.52 - - -