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 ALCAM 0 genome.wustl.edu 37 3 105238944 105238944 + Missense_Mutation SNP G G A TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 3 105238944 105238944 G A SNP ALCAM ENST00000306107 human ensembl 69_37n +1 known missense c.107 p.G36E 1.000 pfam_Ig_V-set,smart_Ig_sub pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors ALCAM HGNC ENSG00000170017 60 0 0.00 62 9 12.68 - - - ARHGEF10 0 genome.wustl.edu 37 8 1833860 1833860 + Missense_Mutation SNP T T C TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 8 1833860 1833860 T C SNP ARHGEF10 ENST00000398564 human ensembl 69_37n +1 known missense c.1244 p.L415S 0.261 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 40 0 0.00 36 4 10.00 - - - ASIC3 0 genome.wustl.edu 37 7 150746033 150746033 + Missense_Mutation SNP G G A TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 7 150746033 150746033 G A SNP ASIC3 ENST00000297512 human ensembl 69_37n +1 known missense c.61 p.A21T 1.000 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 16 0 0.00 12 9 42.86 - - - C8orf34 0 genome.wustl.edu 37 8 69381036 69381036 + Silent SNP C C G TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 8 69381036 69381036 C G SNP C8orf34 ENST00000518698 human ensembl 69_37n +1 known silent c.717 p.A239 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 26 0 0.00 24 8 25.00 - - - CDC123 0 genome.wustl.edu 37 10 12259451 12259451 + Missense_Mutation SNP G G A TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 10 12259451 12259451 G A SNP CDC123 ENST00000281141 human ensembl 69_37n +1 known missense c.425 p.R142H 1.000 pfam_D123,pirsf_Cell_div_Cdc123 pfam_D123,pirsf_Cell_div_Cdc123 - no_errors CDC123 HGNC ENSG00000151465 36 0 0.00 43 6 12.24 - - - DNM1P46 0 genome.wustl.edu 37 15 100332919 100332919 + RNA SNP T T C TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 15 100332919 100332919 T C SNP DNM1P46 ENST00000341853 human ensembl 69_37n -1 known rna NULL NULL 0.222 - - - no_errors DNM1P46 HGNC ENSG00000182397 16 0 0.00 20 12 37.50 - - - DSG1 0 genome.wustl.edu 37 18 28934500 28934500 + Missense_Mutation SNP G G A TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 18 28934500 28934500 G A SNP DSG1 ENST00000257192 human ensembl 69_37n +1 known missense c.2341 p.E781K 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin,pfscan_Cadherin - no_errors DSG1 HGNC ENSG00000134760 50 0 0.00 45 10 18.18 - - - FBXW8 0 genome.wustl.edu 37 12 117448250 117448250 + Silent SNP C C T TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 12 117448250 117448250 C T SNP FBXW8 ENST00000309909 human ensembl 69_37n +1 known silent c.1362 p.D454 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC ENSG00000174989 30 0 0.00 41 11 21.15 - - - FILIP1L 0 genome.wustl.edu 37 3 99568867 99568867 + Silent SNP G G A TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 3 99568867 99568867 G A SNP FILIP1L ENST00000354552 human ensembl 69_37n -1 known silent c.1653 p.T551 0.589 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 51 0 0.00 61 39 39.00 - - - LGALS9 0 genome.wustl.edu 37 17 25965319 25965319 + Missense_Mutation SNP G G A TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 17 25965319 25965319 G A SNP LGALS9 ENST00000395473 human ensembl 69_37n +1 known missense c.70 p.G24S 0.383 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALS9 HGNC ENSG00000168961 37 0 0.00 22 15 40.54 - - - MCF2L 0 genome.wustl.edu 37 13 113750743 113750743 + Missense_Mutation SNP G G A TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 13 113750743 113750743 G A SNP MCF2L ENST00000375604 human ensembl 69_37n +1 known missense c.3305 p.R1102H 0.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 21 0 0.00 24 12 33.33 - - - MED12 0 genome.wustl.edu 37 X 70344921 70344921 + Missense_Mutation SNP G G T TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 X 70344921 70344921 G T SNP MED12 ENST00000333646 human ensembl 69_37n +1 known missense c.2151 p.K717N 0.966 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 30 0 0.00 31 7 18.42 - - - NCL 0 genome.wustl.edu 37 2 232320764 232320764 + Missense_Mutation SNP G G A TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 2 232320764 232320764 G A SNP NCL ENST00000322723 human ensembl 69_37n -1 known missense c.1789 p.R597W 0.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 43 0 0.00 26 37 58.73 - - - OR2T2 0 genome.wustl.edu 37 1 248616749 248616749 + Silent SNP C C G TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 1 248616749 248616749 C G SNP OR2T2 ENST00000342927 human ensembl 69_37n +1 known silent c.651 p.V217 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 36 0 0.00 34 5 12.82 - - - PGR 0 genome.wustl.edu 37 11 100962590 100962590 + Missense_Mutation SNP A A G TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 11 100962590 100962590 A G SNP PGR ENST00000325455 human ensembl 69_37n -1 known missense c.1807 p.C603R 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 58 0 0.00 12 70 85.37 - - - POP1 0 genome.wustl.edu 37 8 99168386 99168386 + Nonsense_Mutation SNP C C G TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 8 99168386 99168386 C G SNP POP1 ENST00000349693 human ensembl 69_37n +1 known nonsense c.2166 p.Y722* 0.000 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 32 0 0.00 91 12 11.65 - - - PPAN-P2RY11 0 genome.wustl.edu 37 19 10224638 10224638 + Missense_Mutation SNP G G C TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 19 10224638 10224638 G C SNP PPAN-P2RY11 ENST00000393796 human ensembl 69_37n +1 known missense c.1609 p.V537L 0.879 pfam_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_Brix,pfam_7TM_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_supfam - no_errors PPAN-P2RY11 HGNC ENSG00000243207 28 0 0.00 7 17 70.83 - - - PRUNE2 0 genome.wustl.edu 37 9 79319916 79319916 + Missense_Mutation SNP C C G TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 9 79319916 79319916 C G SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.6197 p.R2066T 0.021 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 35 0 0.00 34 21 38.18 - - - RTL1 0 genome.wustl.edu 37 14 101349800 101349800 + Silent SNP G G A TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 14 101349800 101349800 G A SNP RTL1 ENST00000534062 human ensembl 69_37n -1 known silent c.1326 p.F442 0.595 superfamily_Peptidase_aspartic pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 25 0 0.00 20 12 37.50 - - - SLC6A15 0 genome.wustl.edu 37 12 85270296 85270296 + Missense_Mutation SNP G G A TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 12 85270296 85270296 G A SNP SLC6A15 ENST00000266682 human ensembl 69_37n -1 known missense c.847 p.R283C 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan,pfscan_Na/ntran_symport - no_errors SLC6A15 HGNC ENSG00000072041 32 0 0.00 26 13 33.33 - - - TFPI2 0 genome.wustl.edu 37 7 93519525 93519525 + Silent SNP C C A TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 7 93519525 93519525 C A SNP TFPI2 ENST00000222543 human ensembl 69_37n -1 known silent c.195 p.L65 0.001 pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 35 0 0.00 33 9 21.43 - - - TNXB 0 genome.wustl.edu 37 6 32029275 32029275 + Missense_Mutation SNP A A G TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 6 32029275 32029275 A G SNP TNXB ENST00000375247 human ensembl 69_37n -1 known missense c.7391 p.V2464A 0.718 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 35 0 0.00 15 13 46.43 - - - TP53 0 genome.wustl.edu 37 17 7578253 7578253 + Missense_Mutation SNP C C A TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 17 7578253 7578253 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.596 p.G199V 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 52 0 0.00 8 49 85.96 - - - UGT1A10 0 genome.wustl.edu 37 2 234545248 234545248 + Missense_Mutation SNP A A T TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 2 234545248 234545248 A T SNP UGT1A10 ENST00000344644 human ensembl 69_37n +1 known missense c.80 p.K27M 0.999 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A10 HGNC ENSG00000242515 70 0 0.00 74 14 15.91 - - - UIMC1 0 genome.wustl.edu 37 5 176396604 176396604 + Missense_Mutation SNP T T C TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d0fd3dcc-4ac7-4fe9-9fb8-c0676b6faabb b3bbaa37-c5ad-44d8-aab3-78472e776a66 5 176396604 176396604 T C SNP UIMC1 ENST00000377219 human ensembl 69_37n -1 known missense c.461 p.E154G 1.000 NULL smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif - no_errors UIMC1 HGNC ENSG00000087206 69 0 0.00 66 10 13.16 - - -