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 AGPAT9 0 genome.wustl.edu 37 4 84516078 84516078 + Silent SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 4 84516078 84516078 C T SNP AGPAT9 ENST00000264409 human ensembl 69_37n +1 known silent c.819 p.R273 0.670 pfam_Acyltransferase,smart_Acyltransferase pfam_Acyltransferase,smart_Acyltransferase - no_errors AGPAT9 HGNC ENSG00000138678 125 0 0.00 70 10 12.50 - - - AKAP13 0 genome.wustl.edu 37 15 86286780 86286780 + Missense_Mutation SNP G G C TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 15 86286780 86286780 G C SNP AKAP13 ENST00000361243 human ensembl 69_37n +1 known missense c.8128 p.E2710Q 0.999 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 67 0 0.00 57 13 18.57 - - - C11orf30 0 genome.wustl.edu 37 11 76239376 76239376 + Missense_Mutation SNP T T C TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 11 76239376 76239376 T C SNP C11orf30 ENST00000334736 human ensembl 69_37n +1 known missense c.2060 p.L687P 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 29 0 0.00 41 7 14.58 - - - C15orf39 0 genome.wustl.edu 37 15 75498684 75498684 + Nonsense_Mutation SNP G G T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 15 75498684 75498684 G T SNP C15orf39 ENST00000360639 human ensembl 69_37n +1 known nonsense c.295 p.E99* 0.401 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 54 0 0.00 47 8 14.55 - - - C1orf167 0 genome.wustl.edu 37 1 11844330 11844330 + Missense_Mutation SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 1 11844330 11844330 C T SNP C1orf167 ENST00000312793 human ensembl 69_37n +1 putative missense c.1255 p.R419C 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C1orf167 HGNC ENSG00000215910 35 0 0.00 30 5 14.29 - - - C6orf183 0 genome.wustl.edu 37 6 109591433 109591433 + Silent SNP T T C TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 6 109591433 109591433 T C SNP C6orf183 ENST00000534901 human ensembl 69_37n +1 known silent c.1638 p.N546 0.000 NULL NULL - no_errors C6orf183 HGNC ENSG00000243587 25 0 0.00 24 4 14.29 - - - CASZ1 0 genome.wustl.edu 37 1 10713493 10713493 + Missense_Mutation SNP G G A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 1 10713493 10713493 G A SNP CASZ1 ENST00000377022 human ensembl 69_37n -1 known missense c.2621 p.S874L 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 198 0 0.00 138 22 13.75 - - - CHM 0 genome.wustl.edu 37 X 85302527 85302527 + Missense_Mutation SNP T T C TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc X 85302527 85302527 T C SNP CHM ENST00000357749 human ensembl 69_37n -1 known missense c.10 p.T4A 0.982 pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 64 0 0.00 38 6 13.04 - - - CHST1 0 genome.wustl.edu 37 11 45671968 45671968 + Missense_Mutation SNP G G A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 11 45671968 45671968 G A SNP CHST1 ENST00000308064 human ensembl 69_37n -1 known missense c.506 p.P169L 0.002 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 58 0 0.00 35 5 12.50 - - - CIZ1 0 genome.wustl.edu 37 9 130940822 130940822 + RNA SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 9 130940822 130940822 C T SNP CIZ1 ENST00000475471 human ensembl 69_37n -1 known rna NULL NULL 0.021 - - - no_errors CIZ1 HGNC ENSG00000148337 28 0 0.00 20 4 16.67 - - - CNDP1 0 genome.wustl.edu 37 18 72223592 72223594 + In_Frame_Del DEL TGC TGC - TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 18 72223592 72223594 TGC - DEL CNDP1 ENST00000358821 human ensembl 69_37n +1 known in_frame_del c.44_46 p.L19in_frame_del 0.574:0.612:0.628 NULL pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP1 HGNC ENSG00000150656 72 0 0.00 36 4 10.00 - - - COL6A5 0 genome.wustl.edu 37 3 130190630 130190630 + Missense_Mutation SNP G G A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 3 130190630 130190630 G A SNP COL6A5 ENST00000265379 human ensembl 69_37n +1 known missense c.7679 p.S2560N 0.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 57 0 0.00 37 5 11.90 - - - CPT1B 0 genome.wustl.edu 37 22 51015382 51015382 + Silent SNP G G A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 22 51015382 51015382 G A SNP CPT1B ENST00000312108 human ensembl 69_37n -1 known silent c.363 p.I121 1.000 NULL pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 62 0 0.00 31 6 16.22 - - - CRIP1 0 genome.wustl.edu 37 14 105953599 105953599 + Missense_Mutation SNP G G T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 14 105953599 105953599 G T SNP CRIP1 ENST00000330233 human ensembl 69_37n +1 known missense c.3 p.M1I 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CRIP1 HGNC ENSG00000213145 25 0 0.00 19 4 17.39 - - - CUL7 0 genome.wustl.edu 37 6 43010839 43010839 + Silent SNP G G T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 6 43010839 43010839 G T SNP CUL7 ENST00000535468 human ensembl 69_37n -1 known silent c.3687 p.R1229 1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 38 0 0.00 36 4 10.00 - - - DALRD3 0 genome.wustl.edu 37 3 49055154 49055154 + Missense_Mutation SNP C C A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 3 49055154 49055154 C A SNP DALRD3 ENST00000341949 human ensembl 69_37n -1 known missense c.610 p.D204Y 0.000 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 114 0 0.00 108 17 13.60 - - - DCAF4L2 0 genome.wustl.edu 37 8 88885923 88885923 + Nonsense_Mutation SNP C C A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 8 88885923 88885923 C A SNP DCAF4L2 ENST00000319675 human ensembl 69_37n -1 known nonsense c.277 p.E93* 0.055 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 131 0 0.00 160 34 17.35 - - - DPP7 0 genome.wustl.edu 37 9 140006171 140006171 + Missense_Mutation SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 9 140006171 140006171 C T SNP DPP7 ENST00000371579 human ensembl 69_37n -1 known missense c.1243 p.G415R 0.978 pfam_Peptidase_S28 pfam_Peptidase_S28,pfam_AB_hydrolase_1 - no_errors DPP7 HGNC ENSG00000176978 103 0 0.00 45 9 16.67 - - - FLJ35816 0 genome.wustl.edu 37 4 1147333 1147333 + RNA SNP C C A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 4 1147333 1147333 C A SNP FLJ35816 ENST00000417557 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors AC092535.3 Clone_based_vega_gene ENSG00000227189 110 1 0.90 77 10 11.49 - - - FOLH1 0 genome.wustl.edu 37 11 49204779 49204779 + Missense_Mutation SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 11 49204779 49204779 C T SNP FOLH1 ENST00000256999 human ensembl 69_37n -1 known missense c.842 p.R281H 0.843 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 48 0 0.00 33 7 17.50 - - - FOLH1 0 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 69_37n -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 44 0 0.00 30 9 23.08 - - - GNAT1 0 genome.wustl.edu 37 3 50231619 50231619 + Missense_Mutation SNP G G A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 3 50231619 50231619 G A SNP GNAT1 ENST00000232461 human ensembl 69_37n +1 known missense c.673 p.A225T 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT1 HGNC ENSG00000114349 90 0 0.00 58 13 18.31 - - - HAUS3 0 genome.wustl.edu 37 4 2240617 2240617 + Missense_Mutation SNP C C G TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 4 2240617 2240617 C G SNP HAUS3 ENST00000243706 human ensembl 69_37n -1 known missense c.1063 p.D355H 1.000 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 52 0 0.00 39 8 17.02 - - - HEATR5A 0 genome.wustl.edu 37 14 31858209 31858209 + Missense_Mutation SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 14 31858209 31858209 C T SNP HEATR5A ENST00000389961 human ensembl 69_37n -1 known missense c.757 p.A253T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 68 0 0.00 43 5 10.42 - - - HUWE1 0 genome.wustl.edu 37 X 53561637 53561637 + Missense_Mutation SNP G G A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc X 53561637 53561637 G A SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.12671 p.A4224V 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 43 0 0.00 25 6 19.35 - - - IMMP2L 0 genome.wustl.edu 37 7 110303527 110303527 + RNA SNP T T C TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 7 110303527 110303527 T C SNP IMMP2L ENST00000489381 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors IMMP2L HGNC ENSG00000184903 23 0 0.00 7 3 30.00 - - - ITGB4 0 genome.wustl.edu 37 17 73753041 73753041 + Missense_Mutation SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 17 73753041 73753041 C T SNP ITGB4 ENST00000200181 human ensembl 69_37n +1 known missense c.5071 p.R1691W 1.000 pirsf_Integrin_bsu-4,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC ENSG00000132470 47 0 0.00 48 8 14.29 - - - ITIH1 0 genome.wustl.edu 37 3 52814347 52814347 + Silent SNP G G T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 3 52814347 52814347 G T SNP ITIH1 ENST00000273283 human ensembl 69_37n +1 known silent c.636 p.L212 0.678 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 47 0 0.00 36 4 10.00 - - - L3MBTL1 0 genome.wustl.edu 37 20 42143191 42143191 + Nonsense_Mutation SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 20 42143191 42143191 C T SNP L3MBTL1 ENST00000373135 human ensembl 69_37n +1 known nonsense c.7 p.R3* 0.001 NULL pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 122 0 0.00 97 16 14.04 - - - LINC00469 0 genome.wustl.edu 37 17 71746427 71746427 + RNA SNP G G A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 17 71746427 71746427 G A SNP LINC00469 ENST00000444747 human ensembl 69_37n -1 known rna NULL NULL 0.029 - - - no_errors LINC00469 HGNC ENSG00000177338 26 0 0.00 23 5 17.86 - - - LRFN2 0 genome.wustl.edu 37 6 40399625 40399625 + Missense_Mutation SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 6 40399625 40399625 C T SNP LRFN2 ENST00000338305 human ensembl 69_37n -1 known missense c.1228 p.G410R 0.916 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN2 HGNC ENSG00000156564 51 0 0.00 70 8 10.26 - - - LRFN2 0 genome.wustl.edu 37 6 40400198 40400198 + Missense_Mutation SNP C C A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 6 40400198 40400198 C A SNP LRFN2 ENST00000338305 human ensembl 69_37n -1 known missense c.655 p.A219S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN2 HGNC ENSG00000156564 84 0 0.00 74 20 21.28 - - - LRRC72 0 genome.wustl.edu 37 7 16606022 16606022 + Missense_Mutation SNP G G A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 7 16606022 16606022 G A SNP LRRC72 ENST00000401542 human ensembl 69_37n +1 novel missense c.512 p.R171Q 0.675 NULL NULL - no_errors LRRC72 HGNC ENSG00000205858 60 0 0.00 35 5 12.50 - - - MAST4 0 genome.wustl.edu 37 5 66088133 66088133 + RNA SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 5 66088133 66088133 C T SNP MAST4 ENST00000451144 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors MAST4 HGNC ENSG00000069020 155 0 0.00 107 17 13.60 - - - MYBL2 0 genome.wustl.edu 37 20 42340188 42340188 + Missense_Mutation SNP G G A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 20 42340188 42340188 G A SNP MYBL2 ENST00000217026 human ensembl 69_37n +1 known missense c.1666 p.E556K 1.000 pfam_C-myb_C pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 45 0 0.00 49 7 12.50 - - - MYO7A 0 genome.wustl.edu 37 11 76872063 76872063 + Silent SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 11 76872063 76872063 C T SNP MYO7A ENST00000409709 human ensembl 69_37n +1 known silent c.1245 p.N415 0.042 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 128 0 0.00 101 13 11.40 - - - NAMPT 0 genome.wustl.edu 37 7 105913026 105913026 + Missense_Mutation SNP T T G TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 7 105913026 105913026 T G SNP NAMPT ENST00000222553 human ensembl 69_37n -1 known missense c.397 p.T133P 1.000 pirsf_Nicotinamide_PRibTrfase pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase - no_errors NAMPT HGNC ENSG00000105835 87 0 0.00 49 7 12.50 - - - NBPF1 0 genome.wustl.edu 37 1 16889890 16889891 + RNA DEL TG TG - TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 1 16889890 16889891 TG - DEL NBPF1 ENST00000392963 human ensembl 69_37n -1 known rna NULL NULL 0.001:0.000 - - - no_errors NBPF1 HGNC ENSG00000219481 11 0 0.00 4 2 33.33 - - - NIPSNAP1 0 genome.wustl.edu 37 22 29951936 29951936 + Silent SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 22 29951936 29951936 C T SNP NIPSNAP1 ENST00000216121 human ensembl 69_37n -1 known silent c.843 p.S281 0.068 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP1 HGNC ENSG00000184117 38 0 0.00 22 6 21.43 - - - NLRP13 0 genome.wustl.edu 37 19 56424072 56424072 + Missense_Mutation SNP G G T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 19 56424072 56424072 G T SNP NLRP13 ENST00000342929 human ensembl 69_37n -1 known missense c.1111 p.L371I 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 47 0 0.00 35 9 20.45 - - - NOP56 0 genome.wustl.edu 37 20 2633420 2633421 + RNA INS - - G TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 20 2633420 2633421 - G INS NOP56 ENST00000469588 human ensembl 69_37n +1 known rna NULL NULL 0.003:0.000 - - - no_errors NOP56 HGNC ENSG00000101361 11 0 0.00 2 5 71.43 - - - OR5M11 0 genome.wustl.edu 37 11 56310545 56310545 + Silent SNP G G A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 11 56310545 56310545 G A SNP OR5M11 ENST00000528616 human ensembl 69_37n -1 known silent c.189 p.L63 0.998 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5M11 HGNC ENSG00000255223 58 0 0.00 85 13 13.27 - - - OR5T2 0 genome.wustl.edu 37 11 56000263 56000263 + Missense_Mutation SNP G G T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 11 56000263 56000263 G T SNP OR5T2 ENST00000313264 human ensembl 69_37n -1 known missense c.399 p.F133L 0.000 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5T2 HGNC ENSG00000181718 65 0 0.00 58 24 29.27 - - - PAQR8 0 genome.wustl.edu 37 6 52268978 52268978 + Missense_Mutation SNP G G T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 6 52268978 52268978 G T SNP PAQR8 ENST00000360726 human ensembl 69_37n +1 known missense c.967 p.A323S 0.998 NULL pfam_HlyIII-related,superfamily_C-type_lectin_fold - no_errors PAQR8 HGNC ENSG00000170915 33 0 0.00 47 7 12.96 - - - PPP1R1A 0 genome.wustl.edu 37 12 54969998 54969998 + RNA SNP A A G TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 12 54969998 54969998 A G SNP PPP1R1A ENST00000547431 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PPP1R1A HGNC ENSG00000135447 9 0 0.00 5 10 66.67 - - - PRIC285 0 genome.wustl.edu 37 20 62191954 62191954 + Missense_Mutation SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 20 62191954 62191954 C T SNP PRIC285 ENST00000467148 human ensembl 69_37n -1 known missense c.7378 p.A2460T 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors RP4-697K14.7 Clone_based_vega_gene ENSG00000130589 56 0 0.00 45 8 15.09 - - - RASA3 0 genome.wustl.edu 37 13 114786882 114786882 + Silent SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 13 114786882 114786882 C T SNP RASA3 ENST00000334062 human ensembl 69_37n -1 known silent c.783 p.A261 0.960 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,prints_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASA3 HGNC ENSG00000185989 54 0 0.00 42 10 19.23 - - - SLC28A2 0 genome.wustl.edu 37 15 45557310 45557310 + Silent SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 15 45557310 45557310 C T SNP SLC28A2 ENST00000347644 human ensembl 69_37n +1 known silent c.726 p.A242 0.802 pfam_Nuclsd_transpt2,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A2 HGNC ENSG00000137860 64 0 0.00 45 20 30.77 - - - SPRED2 0 genome.wustl.edu 37 2 65561392 65561392 + Silent SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 2 65561392 65561392 C T SNP SPRED2 ENST00000426832 human ensembl 69_37n -1 known silent c.258 p.E86 0.254 NULL pfam_EVH1,pfscan_EVH1 - no_start_codon SPRED2 HGNC ENSG00000198369 38 0 0.00 25 4 13.79 - - - SPTAN1 0 genome.wustl.edu 37 9 131394575 131394575 + Missense_Mutation SNP A A G TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 9 131394575 131394575 A G SNP SPTAN1 ENST00000358161 human ensembl 69_37n +1 known missense c.6932 p.H2311R 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 43 0 0.00 32 8 20.00 - - - SUDS3 0 genome.wustl.edu 37 12 118828801 118828801 + Silent SNP A A G TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 12 118828801 118828801 A G SNP SUDS3 ENST00000397564 human ensembl 69_37n +1 known silent c.345 p.T115 0.000 pfam_Sds3 pfam_Sds3 - no_errors SUDS3 HGNC ENSG00000111707 50 0 0.00 27 5 15.62 - - - TIMP3 0 genome.wustl.edu 37 22 33253339 33253339 + Missense_Mutation SNP T T C TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 22 33253339 33253339 T C SNP TIMP3 ENST00000266085 human ensembl 69_37n +1 known missense c.308 p.L103P 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 78 0 0.00 47 14 22.95 - - - TP53 0 genome.wustl.edu 37 17 7578370 7578370 + Splice_Site SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 17 7578370 7578370 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known splice_site c.559+1 e4+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 43 0 0.00 24 9 27.27 - - - TTC17 0 genome.wustl.edu 37 11 43511840 43511840 + Missense_Mutation SNP A A G TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 11 43511840 43511840 A G SNP TTC17 ENST00000039989 human ensembl 69_37n +1 known missense c.3082 p.K1028E 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 55 0 0.00 26 9 25.71 - - - TTC40 0 genome.wustl.edu 37 10 134699401 134699401 + Missense_Mutation SNP C C T TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 10 134699401 134699401 C T SNP TTC40 ENST00000368582 human ensembl 69_37n -1 known missense c.3367 p.D1123N 0.769 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 29 0 0.00 28 5 15.15 - - - TTLL4 0 genome.wustl.edu 37 2 219602492 219602492 + Frame_Shift_Del DEL G G - TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 2 219602492 219602492 G - DEL TTLL4 ENST00000258398 human ensembl 69_37n +1 known frame_shift_del c.93 p.P32fs 0.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL4 HGNC ENSG00000135912 52 0 0.00 52 7 11.86 - - - TUT1 0 genome.wustl.edu 37 11 62344705 62344705 + Missense_Mutation SNP G G A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 11 62344705 62344705 G A SNP TUT1 ENST00000308436 human ensembl 69_37n -1 known missense c.1333 p.R445W 0.989 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 35 0 0.00 34 6 15.00 - - - WHAMM 0 genome.wustl.edu 37 15 83491923 83491923 + Missense_Mutation SNP G G C TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 15 83491923 83491923 G C SNP WHAMM ENST00000286760 human ensembl 69_37n +1 known missense c.1342 p.V448L 0.005 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 106 0 0.00 75 11 12.79 - - - ZFYVE20 0 genome.wustl.edu 37 3 15126258 15126258 + Silent SNP G G A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 3 15126258 15126258 G A SNP ZFYVE20 ENST00000253699 human ensembl 69_37n -1 known silent c.582 p.I194 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 35 0 0.00 23 7 23.33 - - - ZNF747 0 genome.wustl.edu 37 16 30544048 30544048 + Silent SNP G G A TCGA-A2-A3XY-01A-11D-A23C-09 TCGA-A2-A3XY-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5978cf32-c471-4f15-879f-398acec6a866 7a45c59e-841d-4e59-8c8c-f071064f28fc 16 30544048 30544048 G A SNP ZNF747 ENST00000535210 human ensembl 69_37n -1 known silent c.765 p.H255 0.982 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF747 HGNC ENSG00000169955 152 0 0.00 105 17 13.93 - - -