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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ABCA11P 79963 genome.wustl.edu 37 4 419668 419668 + RNA SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 419668 419668 G C SNP ABCA11P ENST00000451020 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ABCA11P HGNC ABCA12 26154 genome.wustl.edu 37 2 215865463 215865463 + Nonsense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 215865463 215865463 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known nonsense c.3145 p.Q1049* 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCA4 24 genome.wustl.edu 37 1 94564508 94564508 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 94564508 94564508 C T SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known missense c.610 p.A204T 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ABI3BP 25890 genome.wustl.edu 37 3 100645270 100645270 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 100645270 100645270 C G SNP ABI3BP ENST00000284322 human ensembl 70_37 -1 known missense c.156 p.L52F 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ACBD5 91452 genome.wustl.edu 37 10 27486362 27486362 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 10 27486362 27486362 G T SNP ACBD5 ENST00000375888 human ensembl 70_37 -1 known missense c.1602 p.N534K 1.000 pirsf_M-assoc_diazepam-bd-inh pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ACD 65057 genome.wustl.edu 37 16 67692860 67692860 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 67692860 67692860 G A SNP ACD ENST00000219251 human ensembl 70_37 -1 known missense c.865 p.H289Y 0.034 NULL pfam_Telomere_Pot1 - no_errors ACD HGNC ACLY 47 genome.wustl.edu 37 17 40061806 40061806 + Silent SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 40061806 40061806 G C SNP ACLY ENST00000352035 human ensembl 70_37 -1 known silent c.972 p.L324 0.877 superfamily_Succinyl-CoA_synth-like,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ADD1 118 genome.wustl.edu 37 4 2906520 2906520 + Nonsense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 2906520 2906520 C A SNP ADD1 ENST00000264758 human ensembl 70_37 +1 known nonsense c.1191 p.Y397* 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC AFF2 2334 genome.wustl.edu 37 X 148037544 148037544 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 148037544 148037544 G C SNP AFF2 ENST00000370460 human ensembl 70_37 +1 known missense c.1969 p.E657Q 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC AKAP8 10270 genome.wustl.edu 37 19 15469820 15469820 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 15469820 15469820 C G SNP AKAP8 ENST00000269701 human ensembl 70_37 -1 known missense c.1581 p.L527F 1.000 pfam_AKAP95 pfam_AKAP95 - no_errors AKAP8 HGNC AKR1A1 10327 genome.wustl.edu 37 1 46032303 46032303 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 46032303 46032303 C G SNP AKR1A1 ENST00000351829 human ensembl 70_37 +1 known missense c.147 p.I49M 0.953 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1A1 HGNC ALAD 210 genome.wustl.edu 37 9 116153117 116153117 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 116153117 116153117 C T SNP ALAD ENST00000409155 human ensembl 70_37 -1 known missense c.358 p.D120N 0.998 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ALDH4A1 8659 genome.wustl.edu 37 1 19216523 19216523 + Nonsense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 19216523 19216523 G A SNP ALDH4A1 ENST00000290597 human ensembl 70_37 -1 known nonsense c.139 p.R47* 1.000 superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ALG1L 200810 genome.wustl.edu 37 3 125649457 125649457 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 125649457 125649457 C T SNP ALG1L ENST00000340333 human ensembl 70_37 -1 known silent c.291 p.V97 1.000 NULL NULL - no_errors ALG1L HGNC ALPP 250 genome.wustl.edu 37 2 233244519 233244519 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 233244519 233244519 C T SNP ALPP ENST00000392027 human ensembl 70_37 +1 known missense c.530 p.S177L 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ANKRD36 375248 genome.wustl.edu 37 2 97877440 97877440 + Missense_Mutation SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 97877440 97877440 T C SNP ANKRD36 ENST00000420699 human ensembl 70_37 +1 known missense c.3431 p.M1144T 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ANKRD42 338699 genome.wustl.edu 37 11 82938887 82938887 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 82938887 82938887 G A SNP ANKRD42 ENST00000393392 human ensembl 70_37 +1 known missense c.802 p.D268N 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD42 HGNC AP1B1 162 genome.wustl.edu 37 22 29755894 29755894 + Missense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 29755894 29755894 C A SNP AP1B1 ENST00000357586 human ensembl 70_37 -1 known missense c.198 p.K66N 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC APBA3 9546 genome.wustl.edu 37 19 3759797 3759797 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 3759797 3759797 C T SNP APBA3 ENST00000316757 human ensembl 70_37 -1 known missense c.466 p.E156K 0.022 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA3 HGNC APC2 10297 genome.wustl.edu 37 19 1456386 1456386 + Nonsense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 1456386 1456386 C T SNP APC2 ENST00000233607 human ensembl 70_37 +1 known nonsense c.799 p.Q267* 0.631 NULL pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC AR 367 genome.wustl.edu 37 X 66943614 66943614 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 66943614 66943614 G A SNP AR ENST00000374690 human ensembl 70_37 +1 known silent c.2694 p.E898 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Andrgn_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_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ARAP1 116985 genome.wustl.edu 37 11 72415360 72415360 + Missense_Mutation SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 72415360 72415360 T C SNP ARAP1 ENST00000393609 human ensembl 70_37 -1 known missense c.1829 p.N610S 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ARF6 382 genome.wustl.edu 37 14 50360887 50360887 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 50360887 50360887 C T SNP ARF6 ENST00000298316 human ensembl 70_37 +1 known missense c.433 p.R145W 1.000 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF6 HGNC ARHGEF40 55701 genome.wustl.edu 37 14 21542609 21542609 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 21542609 21542609 C T SNP ARHGEF40 ENST00000298694 human ensembl 70_37 +1 known silent c.720 p.G240 0.998 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ATN1 1822 genome.wustl.edu 37 12 7047686 7047686 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 7047686 7047686 C G SNP ATN1 ENST00000356654 human ensembl 70_37 +1 known missense c.2560 p.L854V 0.998 pfam_Atrophin-like,prints_Atrophin-1 pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ATP11A 23250 genome.wustl.edu 37 13 113510282 113510282 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 13 113510282 113510282 G A SNP ATP11A ENST00000375630 human ensembl 70_37 +1 known silent c.2301 p.L767 0.003 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11A HGNC ATP2B2 491 genome.wustl.edu 37 3 10413730 10413730 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 10413730 10413730 C T SNP ATP2B2 ENST00000352432 human ensembl 70_37 -1 known missense c.1422 p.M474I 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ATRX 546 genome.wustl.edu 37 X 76761674 76761674 + RNA SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 76761674 76761674 G T SNP ATRX ENST00000480283 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors ATRX HGNC AZIN1 51582 genome.wustl.edu 37 8 103870315 103870315 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 103870315 103870315 G A SNP AZIN1 ENST00000517581 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AZIN1 HGNC BAG6 7917 genome.wustl.edu 37 6 31607000 31607000 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 31607000 31607000 G A SNP BAG6 ENST00000404765 human ensembl 70_37 -1 known missense c.3397 p.R1133W 1.000 NULL pfam_DUF3538,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC BARHL2 343472 genome.wustl.edu 37 1 91182630 91182630 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 91182630 91182630 C T SNP BARHL2 ENST00000370445 human ensembl 70_37 -1 known silent c.123 p.A41 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors BARHL2 HGNC BDKRB1 623 genome.wustl.edu 37 14 96730151 96730151 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 96730151 96730151 C T SNP BDKRB1 ENST00000216629 human ensembl 70_37 +1 known silent c.132 p.I44 0.172 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_BK_rcpt_B1,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt - no_errors BDKRB1 HGNC BIRC6 57448 genome.wustl.edu 37 2 32743990 32743990 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 32743990 32743990 C T SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.11600 p.S3867L 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC BOC 91653 genome.wustl.edu 37 3 112992158 112992158 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 112992158 112992158 G T SNP BOC ENST00000273395 human ensembl 70_37 +1 known missense c.1204 p.A402S 0.999 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors BOC HGNC BOD1L1 259282 genome.wustl.edu 37 4 13606480 13606480 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 13606480 13606480 G A SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.2044 p.R682C 0.295 NULL NULL - no_errors BOD1L1 HGNC BRWD3 254065 genome.wustl.edu 37 X 79975055 79975055 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 79975055 79975055 G A SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known silent c.1977 p.D659 0.991 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC C14orf28 122525 genome.wustl.edu 37 14 45373686 45373686 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 45373686 45373686 G A SNP C14orf28 ENST00000325192 human ensembl 70_37 +1 known missense c.703 p.E235K 1.000 NULL NULL - no_errors C14orf28 HGNC C19orf59 199675 genome.wustl.edu 37 19 7743008 7743008 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 7743008 7743008 C T SNP C19orf59 ENST00000333598 human ensembl 70_37 +1 known missense c.203 p.P68L 0.000 NULL NULL - no_errors C19orf59 HGNC MROH9 80133 genome.wustl.edu 37 1 170993874 170993874 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 170993874 170993874 G C SNP C1orf129 ENST00000367759 human ensembl 70_37 +1 known missense c.2146 p.E716Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C1orf129 HGNC C9orf116 138162 genome.wustl.edu 37 9 138387442 138387442 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 138387442 138387442 G C SNP C9orf116 ENST00000429260 human ensembl 70_37 -1 known missense c.242 p.S81W 0.001 NULL NULL - no_errors C9orf116 HGNC CACNA2D3 55799 genome.wustl.edu 37 3 54798357 54798357 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 54798357 54798357 C T SNP CACNA2D3 ENST00000288197 human ensembl 70_37 +1 known silent c.1359 p.T453 0.007 pfam_Cache_domain pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC CALD1 800 genome.wustl.edu 37 7 134618729 134618729 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 134618729 134618729 G C SNP CALD1 ENST00000361675 human ensembl 70_37 +1 novel missense c.1209 p.K403N 0.889 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC CCDC144NL 339184 genome.wustl.edu 37 17 20799133 20799133 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 20799133 20799133 G A SNP CCDC144NL ENST00000327925 human ensembl 70_37 -1 known silent c.201 p.G67 0.000 NULL NULL - no_errors CCDC144NL HGNC CCDC168 643677 genome.wustl.edu 37 13 103381996 103381996 + Frame_Shift_Del DEL A A - TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 13 103381996 103381996 A - DEL CCDC168 ENST00000322527 human ensembl 70_37 -1 known frame_shift_del c.7164 p.F2388fs 0.998 NULL NULL - no_errors CCDC168 HGNC CCR1 1230 genome.wustl.edu 37 3 46244879 46244879 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 46244879 46244879 C T SNP CCR1 ENST00000296140 human ensembl 70_37 -1 known missense c.926 p.R309Q 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC CD14 929 genome.wustl.edu 37 5 140011944 140011944 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 140011944 140011944 C T SNP CD14 ENST00000302014 human ensembl 70_37 -1 known missense c.625 p.E209K 0.701 pirsf_Monocyte_diff_Ag_CD14 pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14 - no_errors CD14 HGNC CHD6 84181 genome.wustl.edu 37 20 40044128 40044128 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 40044128 40044128 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.6637 p.G2213R 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC CHD9 80205 genome.wustl.edu 37 16 53331007 53331007 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 53331007 53331007 G C SNP CHD9 ENST00000398510 human ensembl 70_37 +1 known missense c.5650 p.E1884Q 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC CHIA 27159 genome.wustl.edu 37 1 111860363 111860363 + Missense_Mutation SNP A A C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 111860363 111860363 A C SNP CHIA ENST00000343320 human ensembl 70_37 +1 known missense c.541 p.T181P 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC CKAP2L 150468 genome.wustl.edu 37 2 113498516 113498516 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 113498516 113498516 C T SNP CKAP2L ENST00000302450 human ensembl 70_37 -1 known missense c.1891 p.E631K 0.063 NULL NULL - no_errors CKAP2L HGNC CKAP2L 150468 genome.wustl.edu 37 2 113498523 113498523 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 113498523 113498523 C T SNP CKAP2L ENST00000302450 human ensembl 70_37 -1 known silent c.1884 p.K628 0.000 NULL NULL - no_errors CKAP2L HGNC CNFN 84518 genome.wustl.edu 37 19 42891379 42891379 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 42891379 42891379 C G SNP CNFN ENST00000222032 human ensembl 70_37 -1 known missense c.265 p.D89H 1.000 pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich - no_errors CNFN HGNC COG4 25839 genome.wustl.edu 37 16 70530299 70530299 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 70530299 70530299 G A SNP COG4 ENST00000323786 human ensembl 70_37 -1 known missense c.1517 p.P506L 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC CORO7-PAM16 100529144 genome.wustl.edu 37 16 4415047 4415047 + Silent SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 4415047 4415047 C G SNP CORO7-PAM16 ENST00000572467 human ensembl 70_37 -1 known silent c.855 p.L285 0.963 pfam_DUF1900 pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC CRHR1 1394 genome.wustl.edu 37 17 43907534 43907534 + Missense_Mutation SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 43907534 43907534 T C SNP CRHR1 ENST00000398285 human ensembl 70_37 +1 known missense c.596 p.F199S 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like 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_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC CSMD2 114784 genome.wustl.edu 37 1 34204807 34204807 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 34204807 34204807 C T SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known missense c.2302 p.E768K 0.998 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC CSPG4P5 114817 genome.wustl.edu 37 15 84954323 84954323 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 84954323 84954323 G A SNP CSPG4P5 ENST00000456932 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CSPG4P5 HGNC CSTF1 1477 genome.wustl.edu 37 20 54974255 54974255 + Nonsense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 54974255 54974255 C G SNP CSTF1 ENST00000217109 human ensembl 70_37 +1 known nonsense c.878 p.S293* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CSTF1 HGNC CTDP1 9150 genome.wustl.edu 37 18 77474779 77474779 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 18 77474779 77474779 G A SNP CTDP1 ENST00000299543 human ensembl 70_37 +1 known missense c.1319 p.R440Q 0.040 NULL pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC CTIF 9811 genome.wustl.edu 37 18 46284630 46284630 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 18 46284630 46284630 G C SNP CTIF ENST00000382998 human ensembl 70_37 +1 known missense c.925 p.E309Q 0.853 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC CTNNA1 1495 genome.wustl.edu 37 5 138264974 138264974 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 138264974 138264974 G C SNP CTNNA1 ENST00000302763 human ensembl 70_37 +1 known missense c.1939 p.D647H 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC CXorf22 170063 genome.wustl.edu 37 X 35937975 35937975 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 35937975 35937975 G T SNP CXorf22 ENST00000297866 human ensembl 70_37 +1 known missense c.59 p.S20I 0.065 NULL superfamily_PapD-like - no_errors CXorf22 HGNC CYB5R1 51706 genome.wustl.edu 37 1 202936328 202936328 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 202936328 202936328 C T SNP CYB5R1 ENST00000367249 human ensembl 70_37 -1 known silent c.6 p.G2 0.787 NULL pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase - no_errors CYB5R1 HGNC CYP2A6 1548 genome.wustl.edu 37 19 41351907 41351907 + Silent SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 41351907 41351907 G C SNP CYP2A6 ENST00000301141 human ensembl 70_37 -1 known silent c.927 p.T309 0.975 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC DCAF4L2 138009 genome.wustl.edu 37 8 88885439 88885439 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 88885439 88885439 C T SNP DCAF4L2 ENST00000319675 human ensembl 70_37 -1 known missense c.761 p.R254H 0.995 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 DCUN1D3 123879 genome.wustl.edu 37 16 20873536 20873536 + Nonsense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 20873536 20873536 C A SNP DCUN1D3 ENST00000324344 human ensembl 70_37 -1 known nonsense c.325 p.E109* 1.000 NULL pfam_PONY_dom - no_errors DCUN1D3 HGNC DDX46 9879 genome.wustl.edu 37 5 134152222 134152222 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 134152222 134152222 G A SNP DDX46 ENST00000452510 human ensembl 70_37 +1 known missense c.2539 p.E847K 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX46 HGNC DENND4C 55667 genome.wustl.edu 37 9 19352601 19352601 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 19352601 19352601 C T SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known silent c.3864 p.F1288 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC DMD 1756 genome.wustl.edu 37 X 32563427 32563427 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 32563427 32563427 G C SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.2017 p.Q673E 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DRP2 1821 genome.wustl.edu 37 X 100503170 100503170 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 100503170 100503170 C T SNP DRP2 ENST00000395209 human ensembl 70_37 +1 known missense c.1345 p.H449Y 1.000 pfam_EF-hand_dom_typ1,pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DRP2 HGNC DSCAML1 57453 genome.wustl.edu 37 11 117651364 117651364 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 117651364 117651364 C T SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.388 p.V130M 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC DSE 29940 genome.wustl.edu 37 6 116752140 116752140 + Missense_Mutation SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 116752140 116752140 T C SNP DSE ENST00000537543 human ensembl 70_37 +1 known missense c.751 p.W251R 1.000 superfamily_Chondroitin_lyas superfamily_Chondroitin_lyas - no_errors DSE HGNC DST 667 genome.wustl.edu 37 6 56328484 56328484 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 56328484 56328484 C T SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.22745 p.R7582Q 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ECT2L 345930 genome.wustl.edu 37 6 139165616 139165616 + Silent SNP A A G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 139165616 139165616 A G SNP ECT2L ENST00000367682 human ensembl 70_37 +1 known silent c.663 p.R221 0.003 NULL pfam_DH-domain,pfam_F-box_dom_cyclin-like,superfamily_DH-domain,superfamily_F-box_dom_cyclin-like,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ELN 2006 genome.wustl.edu 37 7 73471043 73471043 + Nonsense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 73471043 73471043 G T SNP ELN ENST00000320399 human ensembl 70_37 +1 known nonsense c.1357 p.G453* 0.935 NULL prints_Tropoelastin - no_errors ELN HGNC EML6 400954 genome.wustl.edu 37 2 55071220 55071220 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 55071220 55071220 G A SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel missense c.884 p.R295H 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214248 0 genome.wustl.edu 37 19 7964601 7964601 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 7964601 7964601 C G SNP ENSG00000214248 ENST00000539278 human ensembl 70_37 -1 known missense c.666 p.L222F 1.000 NULL NULL - no_errors AC010336.1 Clone_based_ensembl_gene ENSG00000221734 0 genome.wustl.edu 37 9 117554505 117554508 + RNA DEL ACAC ACAC - TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 ACAC ACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 117554505 117554508 ACAC - DEL ENSG00000221734 ENST00000408807 human ensembl 70_37 +1 novel rna NULL NULL 0.007:0.007:0.010:0.012 - - - no_errors AL390240.1 Clone_based_ensembl_gene ENSG00000235881 0 genome.wustl.edu 37 2 111469825 111469825 + RNA SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 111469825 111469825 C G SNP ENSG00000235881 ENST00000414159 human ensembl 70_37 -1 known rna NULL NULL 0.412 - - - no_errors AC114776.3 Clone_based_vega_gene ENSG00000257151 0 genome.wustl.edu 37 15 25277465 25277465 + RNA SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 25277465 25277465 C A SNP ENSG00000257151 ENST00000552334 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-701H24.2 Clone_based_vega_gene ENSG00000265788 0 genome.wustl.edu 37 17 25989944 25989944 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 25989944 25989944 G A SNP ENSG00000265788 ENST00000583179 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-19P22.5 Clone_based_vega_gene ENSG00000265798 0 genome.wustl.edu 37 17 29374691 29374691 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 29374691 29374691 G A SNP ENSG00000265798 ENST00000583112 human ensembl 70_37 -1 known rna NULL NULL 0.119 - - - no_errors RP11-271K11.5 Clone_based_vega_gene ENSG00000268149 0 genome.wustl.edu 37 19 7978326 7978326 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 7978326 7978326 G A SNP ENSG00000268149 ENST00000595655 human ensembl 70_37 -1 known rna NULL NULL 0.044 - - - no_errors CTD-3193O13.13 Clone_based_vega_gene ENSG00000269089 0 genome.wustl.edu 37 11 61735921 61735921 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 61735921 61735921 G A SNP ENSG00000269089 ENST00000601917 human ensembl 70_37 +1 known missense c.346 p.D116N 0.000 NULL NULL - no_errors AP003733.1 Clone_based_ensembl_gene DMTN 2039 genome.wustl.edu 37 8 21927809 21927809 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 21927809 21927809 G A SNP EPB49 ENST00000265800 human ensembl 70_37 +1 known missense c.568 p.D190N 1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors EPB49 HGNC ESCO1 114799 genome.wustl.edu 37 18 19146125 19146125 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 18 19146125 19146125 G C SNP ESCO1 ENST00000269214 human ensembl 70_37 -1 known missense c.1688 p.S563C 0.984 NULL NULL - no_errors ESCO1 HGNC EYA3 2140 genome.wustl.edu 37 1 28415061 28415061 + RNA SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 28415061 28415061 G C SNP EYA3 ENST00000471498 human ensembl 70_37 -1 known rna NULL NULL 0.759 - - - no_errors EYA3 HGNC FAM135B 51059 genome.wustl.edu 37 8 139149461 139149461 + Missense_Mutation SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 139149461 139149461 T C SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known missense c.3944 p.Q1315R 1.000 pfam_DUF676_lipase-like pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC FAM189A1 23359 genome.wustl.edu 37 15 29418552 29418552 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 29418552 29418552 G A SNP FAM189A1 ENST00000261275 human ensembl 70_37 -1 known silent c.1146 p.G382 0.000 NULL pfam_CD20-like - no_errors FAM189A1 HGNC FATE1 89885 genome.wustl.edu 37 X 150889972 150889972 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 150889972 150889972 C T SNP FATE1 ENST00000370350 human ensembl 70_37 +1 known missense c.340 p.R114C 0.001 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors FATE1 HGNC FBXO41 150726 genome.wustl.edu 37 2 73491453 73491453 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 73491453 73491453 C T SNP FBXO41 ENST00000295133 human ensembl 70_37 -1 known missense c.1942 p.A648T 0.986 superfamily_F-box_dom_cyclin-like superfamily_F-box_dom_cyclin-like - no_errors FBXO41 HGNC FIBP 9158 genome.wustl.edu 37 11 65653836 65653836 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 65653836 65653836 C T SNP FIBP ENST00000338369 human ensembl 70_37 -1 known missense c.469 p.D157N 0.900 pfam_FIBP pfam_FIBP - no_errors FIBP HGNC FLG 2312 genome.wustl.edu 37 1 152287815 152287815 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 152287815 152287815 C G SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.118 p.E40Q 0.002 pfam_S100_Ca-bd_sub pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FOXA3 3171 genome.wustl.edu 37 19 46375406 46375406 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 46375406 46375406 C G SNP FOXA3 ENST00000302177 human ensembl 70_37 +1 known missense c.143 p.S48C 1.000 pfam_Fork-head_N 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 FOXA3 HGNC FYCO1 79443 genome.wustl.edu 37 3 46008029 46008029 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 46008029 46008029 G T SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known missense c.2797 p.L933I 0.074 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC GAGE12H 729442 genome.wustl.edu 37 X 49346276 49346276 + Missense_Mutation SNP A A C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 49346276 49346276 A C SNP GAGE12H ENST00000381722 human ensembl 70_37 +1 known missense c.105 p.E35D 0.001 pfam_GAGE pfam_GAGE - no_errors GAGE12H HGNC GALNT9 50614 genome.wustl.edu 37 12 132837615 132837615 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 132837615 132837615 C T SNP GALNT9 ENST00000328957 human ensembl 70_37 -1 known missense c.680 p.R227H 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC GAR1 54433 genome.wustl.edu 37 4 110739145 110739145 + Missense_Mutation SNP A A G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 110739145 110739145 A G SNP GAR1 ENST00000226796 human ensembl 70_37 +1 known missense c.268 p.T90A 1.000 pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel - no_errors GAR1 HGNC GFPT2 9945 genome.wustl.edu 37 5 179745956 179745956 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 179745956 179745956 G A SNP GFPT2 ENST00000253778 human ensembl 70_37 -1 known silent c.795 p.S265 0.254 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC GJB6 10804 genome.wustl.edu 37 13 20797329 20797329 + Nonsense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 13 20797329 20797329 G C SNP GJB6 ENST00000241124 human ensembl 70_37 -1 known nonsense c.291 p.Y97* 1.000 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB6 HGNC GLIS3 169792 genome.wustl.edu 37 9 4299597 4299597 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 4299597 4299597 G A SNP GLIS3 ENST00000490709 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors GLIS3 HGNC COLGALT1 79709 genome.wustl.edu 37 19 17692157 17692157 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 17692157 17692157 C T SNP GLT25D1 ENST00000252599 human ensembl 70_37 +1 known silent c.1773 p.S591 0.994 NULL pfam_Glyco_trans_25 - no_errors GLT25D1 HGNC GNAL 2774 genome.wustl.edu 37 18 11753944 11753944 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 18 11753944 11753944 G T SNP GNAL ENST00000334049 human ensembl 70_37 +1 known missense c.624 p.Q208H 1.000 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_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_S - no_errors GNAL HGNC GOLGA8B 440270 genome.wustl.edu 37 15 34820227 34820227 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 34820227 34820227 C T SNP GOLGA8B ENST00000438958 human ensembl 70_37 -1 known missense c.1595 p.S532N 0.997 NULL NULL - no_errors GOLGA8B HGNC GOLGA8S 653061 genome.wustl.edu 37 15 23606542 23606542 + Frame_Shift_Del DEL T T - TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 23606542 23606542 T - DEL GOLGA8S ENST00000562295 human ensembl 70_37 +1 novel frame_shift_del c.1049 p.P351fs 0.007 NULL NULL - no_errors GOLGA8S HGNC GPR179 440435 genome.wustl.edu 37 17 36485781 36485781 + Missense_Mutation SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 36485781 36485781 T C SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.3671 p.E1224G 0.023 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC GPR68 8111 genome.wustl.edu 37 14 91701266 91701266 + Silent SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 91701266 91701266 G C SNP GPR68 ENST00000238699 human ensembl 70_37 -1 known silent c.159 p.L53 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt - no_errors GPR68 HGNC GPRASP1 9737 genome.wustl.edu 37 X 101909234 101909234 + Silent SNP A A G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 101909234 101909234 A G SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known silent c.393 p.K131 0.051 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC GPRC5B 51704 genome.wustl.edu 37 16 19883546 19883546 + Missense_Mutation SNP T T G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 19883546 19883546 T G SNP GPRC5B ENST00000537135 human ensembl 70_37 -1 known missense c.700 p.M234L 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC GRIA2 2891 genome.wustl.edu 37 4 158254137 158254137 + Missense_Mutation SNP A A T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 158254137 158254137 A T SNP GRIA2 ENST00000264426 human ensembl 70_37 +1 known missense c.1049 p.Q350L 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRIA2 HGNC GRM5 2915 genome.wustl.edu 37 11 88780671 88780671 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 88780671 88780671 C T SNP GRM5 ENST00000305447 human ensembl 70_37 -1 known missense c.370 p.E124K 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt_5 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC GTF3C1 2975 genome.wustl.edu 37 16 27472703 27472703 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 27472703 27472703 C T SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.6298 p.E2100K 0.956 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC GTF3C1 2975 genome.wustl.edu 37 16 27517406 27517406 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 27517406 27517406 C G SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.1584 p.L528F 0.372 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC HAPLN4 404037 genome.wustl.edu 37 19 19369519 19369519 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 19369519 19369519 G A SNP HAPLN4 ENST00000291481 human ensembl 70_37 -1 known silent c.630 p.N210 0.975 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link - no_errors HAPLN4 HGNC HDAC10 83933 genome.wustl.edu 37 22 50686384 50686384 + Silent SNP A A G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 50686384 50686384 A G SNP HDAC10 ENST00000216271 human ensembl 70_37 -1 known silent c.1272 p.V424 0.235 NULL pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC10 HGNC HILPDA 29923 genome.wustl.edu 37 7 128097963 128097964 + RNA INS - - A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 128097963 128097964 - A INS HILPDA ENST00000466473 human ensembl 70_37 +1 known rna NULL NULL 0.010:0.015 - - - no_errors HILPDA HGNC HIVEP2 3097 genome.wustl.edu 37 6 143091571 143091571 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 143091571 143091571 C T SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known silent c.4305 p.L1435 0.074 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC HPR 3250 genome.wustl.edu 37 16 72110600 72110600 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 72110600 72110600 G A SNP HPR ENST00000228226 human ensembl 70_37 +1 known missense c.778 p.V260M 0.970 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HPR HGNC HSP90AA1 3320 genome.wustl.edu 37 14 102552664 102552664 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 102552664 102552664 C T SNP HSP90AA1 ENST00000334701 human ensembl 70_37 -1 known missense c.418 p.E140K 1.000 pirsf_Hsp90,superfamily_ATPase-like_ATP-bd,prints_Hsp90_N pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC IL23R 149233 genome.wustl.edu 37 1 67705952 67705952 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 67705952 67705952 C T SNP IL23R ENST00000347310 human ensembl 70_37 +1 known missense c.1136 p.S379L 0.676 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL23R HGNC IL2RB 3560 genome.wustl.edu 37 22 37531391 37531391 + Silent SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 37531391 37531391 G T SNP IL2RB ENST00000216223 human ensembl 70_37 -1 known silent c.795 p.I265 0.001 NULL superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RB HGNC IQGAP3 128239 genome.wustl.edu 37 1 156508623 156508623 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 156508623 156508623 C G SNP IQGAP3 ENST00000361170 human ensembl 70_37 -1 known missense c.3259 p.E1087Q 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC JHDM1D 80853 genome.wustl.edu 37 7 139810954 139810954 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 139810954 139810954 C G SNP JHDM1D ENST00000397560 human ensembl 70_37 -1 known missense c.1369 p.D457H 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC KCNA1 3736 genome.wustl.edu 37 12 5020634 5020634 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 5020634 5020634 C T SNP KCNA1 ENST00000382545 human ensembl 70_37 +1 known silent c.90 p.H30 0.993 prints_K_chnl_volt-dep_Kv1.3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC KCNN3 3782 genome.wustl.edu 37 1 154687452 154687452 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 154687452 154687452 G A SNP KCNN3 ENST00000271915 human ensembl 70_37 -1 known missense c.1729 p.R577W 0.994 pfam_CaM-bd_dom,superfamily_CaM-bd_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC KDM2A 22992 genome.wustl.edu 37 11 66975147 66975147 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 66975147 66975147 G A SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known silent c.474 p.Q158 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC KDM3A 55818 genome.wustl.edu 37 2 86709185 86709185 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 86709185 86709185 C G SNP KDM3A ENST00000312912 human ensembl 70_37 +1 known missense c.2645 p.S882C 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC KDM5B 10765 genome.wustl.edu 37 1 202743752 202743752 + Nonsense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 202743752 202743752 G A SNP KDM5B ENST00000367265 human ensembl 70_37 -1 known nonsense c.394 p.Q132* 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC KIAA0141 9812 genome.wustl.edu 37 5 141309764 141309764 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 141309764 141309764 C G SNP KIAA0141 ENST00000194118 human ensembl 70_37 +1 known missense c.679 p.L227V 0.467 NULL pfam_Sel1-like,smart_Sel1-like - no_errors KIAA0141 HGNC KIAA0947 23379 genome.wustl.edu 37 5 5463228 5463228 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 5463228 5463228 G C SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.3781 p.E1261Q 0.003 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC KIAA1024L 100127206 genome.wustl.edu 37 5 129100597 129100597 + Silent SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 129100597 129100597 G C SNP KIAA1024L ENST00000564719 human ensembl 70_37 +1 known silent c.414 p.R138 0.998 pfam_UPF0258 pfam_UPF0258 - no_errors KIAA1024L HGNC KIAA1199 57214 genome.wustl.edu 37 15 81217005 81217005 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 81217005 81217005 C T SNP KIAA1199 ENST00000220244 human ensembl 70_37 +1 known missense c.2246 p.S749F 0.990 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC LDB2 9079 genome.wustl.edu 37 4 16590439 16590439 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 16590439 16590439 C G SNP LDB2 ENST00000304523 human ensembl 70_37 -1 known missense c.425 p.R142T 1.000 NULL NULL - no_errors LDB2 HGNC LINC00087 644596 genome.wustl.edu 37 X 134232432 134232432 + RNA SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 134232432 134232432 C G SNP LINC00087 ENST00000433425 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00087 HGNC LINC00273 649159 genome.wustl.edu 37 16 33961352 33961352 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 33961352 33961352 G A SNP LINC00273 ENST00000539813 human ensembl 70_37 -1 putative silent c.1089 p.R363 0.000 NULL NULL - no_errors LINC00273 HGNC LOC149134 149134 genome.wustl.edu 37 1 246954062 246954062 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 246954062 246954062 C T SNP LOC149134 ENST00000419361 human ensembl 70_37 +1 known rna NULL NULL 0.929 - - - no_errors RP11-439E19.3 Clone_based_vega_gene LRRC4C 57689 genome.wustl.edu 37 11 40137255 40137255 + Silent SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 40137255 40137255 C A SNP LRRC4C ENST00000527150 human ensembl 70_37 -1 known silent c.588 p.L196 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors LRRC4C HGNC LSP1 4046 genome.wustl.edu 37 11 1908067 1908067 + Nonsense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 1908067 1908067 C T SNP LSP1 ENST00000311604 human ensembl 70_37 +1 known nonsense c.823 p.Q275* 1.000 pfam_Caldesmon_LSP,prints_Lymphspecific pfam_Caldesmon_LSP,prints_Lymphspecific - no_errors LSP1 HGNC LTBP2 4053 genome.wustl.edu 37 14 74994061 74994061 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 74994061 74994061 G C SNP LTBP2 ENST00000261978 human ensembl 70_37 -1 known missense c.2377 p.Q793E 0.543 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP2 HGNC MAGEB6 158809 genome.wustl.edu 37 X 26212431 26212431 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 26212431 26212431 G A SNP MAGEB6 ENST00000379034 human ensembl 70_37 +1 known silent c.468 p.S156 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC MAP2K1 5604 genome.wustl.edu 37 15 66782079 66782079 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 66782079 66782079 G A SNP MAP2K1 ENST00000307102 human ensembl 70_37 +1 known missense c.1046 p.R349K 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K1 HGNC MAP2K7 5609 genome.wustl.edu 37 19 7977052 7977052 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 7977052 7977052 G A SNP MAP2K7 ENST00000545011 human ensembl 70_37 +1 known silent c.1224 p.R408 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K7 HGNC MAPK1 5594 genome.wustl.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 22127164 22127164 C T SNP MAPK1 ENST00000215832 human ensembl 70_37 -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom,prints_MAPK_ERK1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC MED12L 116931 genome.wustl.edu 37 3 151105723 151105723 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 151105723 151105723 C T SNP MED12L ENST00000474524 human ensembl 70_37 +1 known silent c.5109 p.Y1703 0.205 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC MED14 9282 genome.wustl.edu 37 X 40588605 40588606 + RNA INS - - A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 40588605 40588606 - A INS MED14 ENST00000463072 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MED14 HGNC MED24 9862 genome.wustl.edu 37 17 38183201 38183201 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 38183201 38183201 G A SNP MED24 ENST00000394128 human ensembl 70_37 -1 known silent c.1617 p.I539 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC MFAP1 4236 genome.wustl.edu 37 15 44102108 44102108 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 44102108 44102108 C T SNP MFAP1 ENST00000267812 human ensembl 70_37 -1 known missense c.892 p.E298K 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC MGAM 8972 genome.wustl.edu 37 7 141768492 141768492 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 141768492 141768492 G A SNP MGAM ENST00000475668 human ensembl 70_37 +1 putative missense c.5050 p.D1684N 1.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC MICAL3 57553 genome.wustl.edu 37 22 18314623 18314623 + Nonsense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 18314623 18314623 C A SNP MICAL3 ENST00000441493 human ensembl 70_37 -1 known nonsense c.3052 p.E1018* 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC MIR548B 693128 genome.wustl.edu 37 6 119390228 119390228 + RNA SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 119390228 119390228 C A SNP MIR548B ENST00000385247 human ensembl 70_37 -1 known rna NULL NULL 0.072 - - - no_errors MIR548B HGNC MLEC 9761 genome.wustl.edu 37 12 121131974 121131974 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 121131974 121131974 G A SNP MLEC ENST00000228506 human ensembl 70_37 +1 known missense c.316 p.E106K 1.000 pfam_Malectin pfam_Malectin - no_errors MLEC HGNC MMEL1 79258 genome.wustl.edu 37 1 2526265 2526265 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 2526265 2526265 C T SNP MMEL1 ENST00000378412 human ensembl 70_37 -1 known missense c.1652 p.S551N 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC MTMR11 10903 genome.wustl.edu 37 1 149900986 149900986 + RNA DEL A A - TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 149900986 149900986 A - DEL MTMR11 ENST00000466496 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MTMR11 HGNC MUC16 94025 genome.wustl.edu 37 19 9058848 9058848 + Missense_Mutation SNP T T G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 9058848 9058848 T G SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.28598 p.Y9533S 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC2 4583 genome.wustl.edu 37 11 1093677 1093677 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 1093677 1093677 C T SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.5496 p.S1832 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC MYH1 4619 genome.wustl.edu 37 17 10399833 10399833 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 10399833 10399833 G A SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known missense c.4690 p.R1564C 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC MYH10 4628 genome.wustl.edu 37 17 8381688 8381688 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 8381688 8381688 C T SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known missense c.5644 p.E1882K 1.000 pfam_Myosin_tail,superfamily_HR1_rho-bd pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC MYH11 4629 genome.wustl.edu 37 16 15832438 15832438 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 15832438 15832438 C G SNP MYH11 ENST00000396324 human ensembl 70_37 -1 known missense c.3126 p.M1042I 1.000 superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC NCK2 8440 genome.wustl.edu 37 2 106471654 106471654 + Silent SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 106471654 106471654 C A SNP NCK2 ENST00000233154 human ensembl 70_37 +1 known silent c.135 p.A45 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC NCOA1 8648 genome.wustl.edu 37 2 24927964 24927964 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 24927964 24927964 G A SNP NCOA1 ENST00000348332 human ensembl 70_37 +1 known missense c.959 p.R320H 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA1 HGNC NDST2 8509 genome.wustl.edu 37 10 75562497 75562497 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 10 75562497 75562497 C G SNP NDST2 ENST00000309979 human ensembl 70_37 -1 known missense c.2461 p.E821Q 1.000 pfam_Sulfotransferase_dom pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST2 HGNC NIPAL3 57185 genome.wustl.edu 37 1 24768628 24768628 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 24768628 24768628 G A SNP NIPAL3 ENST00000374399 human ensembl 70_37 +1 known silent c.246 p.L82 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL3 HGNC NLRX1 79671 genome.wustl.edu 37 11 119050704 119050704 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 119050704 119050704 C G SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known missense c.1974 p.I658M 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC NOTCH3 4854 genome.wustl.edu 37 19 15276805 15276805 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 15276805 15276805 G A SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known silent c.5460 p.I1820 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC NRDE2 55051 genome.wustl.edu 37 14 90798256 90798256 + RNA SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 90798256 90798256 G C SNP NRDE2 ENST00000557106 human ensembl 70_37 -1 known rna NULL NULL 0.946 - - - no_errors NRDE2 HGNC NXF4 55999 genome.wustl.edu 37 X 101818421 101818421 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 101818421 101818421 C T SNP NXF4 ENST00000360035 human ensembl 70_37 +1 known rna NULL NULL 0.161 - - - no_errors NXF4 HGNC OLAH 55301 genome.wustl.edu 37 10 15089330 15089330 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 10 15089330 15089330 C T SNP OLAH ENST00000378225 human ensembl 70_37 +1 known missense c.43 p.P15S 0.000 NULL pfam_Thioesterase - no_errors OLAH HGNC OR10Q1 219960 genome.wustl.edu 37 11 57995864 57995864 + Nonsense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 57995864 57995864 G A SNP OR10Q1 ENST00000316770 human ensembl 70_37 -1 known nonsense c.484 p.Q162* 0.966 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC OR6B3 150681 genome.wustl.edu 37 2 240984708 240984708 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 240984708 240984708 C T SNP OR6B3 ENST00000319423 human ensembl 70_37 -1 known missense c.782 p.R261Q 0.936 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B3 HGNC PAPD5 64282 genome.wustl.edu 37 16 50265073 50265073 + RNA SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 50265073 50265073 G T SNP PAPD5 ENST00000573002 human ensembl 70_37 +1 known rna NULL NULL 0.025 - - - no_errors PAPD5 HGNC PAPPA2 60676 genome.wustl.edu 37 1 176762738 176762738 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 176762738 176762738 C G SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known missense c.5063 p.P1688R 0.728 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC PAX8 7849 genome.wustl.edu 37 2 113992973 113992973 + Nonsense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 113992973 113992973 G C SNP PAX8 ENST00000429538 human ensembl 70_37 -1 known nonsense c.1085 p.S362* 1.000 pfam_Pax2_C pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX8 HGNC PCDHA13 56136 genome.wustl.edu 37 5 140263052 140263052 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 140263052 140263052 C G SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known missense c.1199 p.T400S 0.943 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC PCDHA2 56146 genome.wustl.edu 37 5 140176361 140176361 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 140176361 140176361 C T SNP PCDHA2 ENST00000526136 human ensembl 70_37 +1 known silent c.1812 p.N604 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC PCDHA3 56145 genome.wustl.edu 37 5 140182150 140182150 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 140182150 140182150 G A SNP PCDHA3 ENST00000522353 human ensembl 70_37 +1 known silent c.1368 p.S456 0.004 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC PCDHA3 56145 genome.wustl.edu 37 5 140183041 140183041 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 140183041 140183041 G C SNP PCDHA3 ENST00000522353 human ensembl 70_37 +1 known missense c.2259 p.Q753H 0.592 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA3 HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144911895 144911895 + Silent SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 144911895 144911895 G C SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known silent c.2214 p.P738 0.649 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDHA2 5161 genome.wustl.edu 37 4 96761857 96761857 + Nonsense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 96761857 96761857 G T SNP PDHA2 ENST00000295266 human ensembl 70_37 +1 known nonsense c.556 p.E186* 0.182 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC PEAK1 79834 genome.wustl.edu 37 15 77407290 77407290 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 77407290 77407290 C T SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known silent c.4449 p.G1483 0.028 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename PER3 8863 genome.wustl.edu 37 1 7890188 7890188 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 7890188 7890188 G A SNP PER3 ENST00000361923 human ensembl 70_37 +1 known missense c.3154 p.E1052K 0.005 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC PHLDB3 653583 genome.wustl.edu 37 19 43999435 43999435 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 43999435 43999435 G A SNP PHLDB3 ENST00000292140 human ensembl 70_37 -1 known silent c.1008 p.F336 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC PIN1P1 5301 genome.wustl.edu 37 1 70385044 70385044 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 70385044 70385044 C T SNP PIN1P1 ENST00000412108 human ensembl 70_37 +1 known rna NULL NULL 0.992 - - - no_errors PIN1P1 HGNC PLXNA4 91584 genome.wustl.edu 37 7 132169754 132169754 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 132169754 132169754 G T SNP PLXNA4 ENST00000378539 human ensembl 70_37 -1 known missense c.1390 p.Q464K 0.001 superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC PLXNB2 23654 genome.wustl.edu 37 22 50726395 50726395 + Silent SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 50726395 50726395 G C SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known silent c.1452 p.P484 0.946 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC PLXNC1 10154 genome.wustl.edu 37 12 94691184 94691184 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 94691184 94691184 G A SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known silent c.4059 p.K1353 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC POFUT1 23509 genome.wustl.edu 37 20 30797944 30797944 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 30797944 30797944 G C SNP POFUT1 ENST00000375749 human ensembl 70_37 +1 known missense c.195 p.L65F 1.000 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase - no_errors POFUT1 HGNC PORCN 64840 genome.wustl.edu 37 X 48374454 48374454 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 48374454 48374454 C T SNP PORCN ENST00000326194 human ensembl 70_37 +1 known missense c.1093 p.R365W 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC PPP1R12A 4659 genome.wustl.edu 37 12 80266643 80266643 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 80266643 80266643 C T SNP PPP1R12A ENST00000261207 human ensembl 70_37 -1 known missense c.313 p.E105K 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC PPP1R15A 23645 genome.wustl.edu 37 19 49377387 49377387 + Silent SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 49377387 49377387 C G SNP PPP1R15A ENST00000200453 human ensembl 70_37 +1 known silent c.897 p.L299 0.000 NULL pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15A HGNC PPP1R9A 55607 genome.wustl.edu 37 7 94540010 94540010 + Silent SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 94540010 94540010 T C SNP PPP1R9A ENST00000289495 human ensembl 70_37 +1 known silent c.585 p.T195 0.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC PPP5C 5536 genome.wustl.edu 37 19 46887119 46887119 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 46887119 46887119 C T SNP PPP5C ENST00000012443 human ensembl 70_37 +1 known missense c.782 p.S261L 0.996 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC PRX 57716 genome.wustl.edu 37 19 40902578 40902578 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 40902578 40902578 C T SNP PRX ENST00000324001 human ensembl 70_37 -1 known missense c.1681 p.E561K 0.232 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC PSG11 5680 genome.wustl.edu 37 19 43529135 43529135 + Silent SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 43529135 43529135 G T SNP PSG11 ENST00000320078 human ensembl 70_37 -1 known silent c.138 p.S46 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG11 HGNC PSKH2 85481 genome.wustl.edu 37 8 87076347 87076347 + Silent SNP A A C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 87076347 87076347 A C SNP PSKH2 ENST00000276616 human ensembl 70_37 -1 known silent c.699 p.V233 0.841 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PSKH2 HGNC PTCHD1 139411 genome.wustl.edu 37 X 23412156 23412157 + Frame_Shift_Ins INS - - T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 23412156 23412157 - T INS PTCHD1 ENST00000379361 human ensembl 70_37 +1 known frame_shift_ins c.2521_2522 p.L842fs 1.000:1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC RAD54L2 23132 genome.wustl.edu 37 3 51671320 51671320 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 51671320 51671320 C G SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.1483 p.L495V 0.999 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC RANBP6 26953 genome.wustl.edu 37 9 6012865 6012865 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 6012865 6012865 G A SNP RANBP6 ENST00000259569 human ensembl 70_37 -1 known missense c.2743 p.R915W 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC RBM34 23029 genome.wustl.edu 37 1 235294965 235294965 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 235294965 235294965 C T SNP RBM34 ENST00000495224 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RBM34 HGNC RBM39 9584 genome.wustl.edu 37 20 34297229 34297229 + RNA SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 34297229 34297229 C G SNP RBM39 ENST00000476806 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RBM39 HGNC RFPL1S 10740 genome.wustl.edu 37 22 29833658 29833658 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 29833658 29833658 C T SNP RFPL1-AS1 ENST00000461286 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RFPL1-AS1 HGNC RFX2 5990 genome.wustl.edu 37 19 6047497 6047497 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 6047497 6047497 G T SNP RFX2 ENST00000303657 human ensembl 70_37 -1 known missense c.11 p.S4Y 1.000 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC RFX3 5991 genome.wustl.edu 37 9 3275524 3275524 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 3275524 3275524 C G SNP RFX3 ENST00000382004 human ensembl 70_37 -1 known missense c.1062 p.Q354H 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC RGS3 5998 genome.wustl.edu 37 9 116357919 116357919 + Missense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 116357919 116357919 C A SNP RGS3 ENST00000350696 human ensembl 70_37 +1 known missense c.3285 p.F1095L 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC RHBG 57127 genome.wustl.edu 37 1 156354578 156354578 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 156354578 156354578 G A SNP RHBG ENST00000368246 human ensembl 70_37 +1 known missense c.1315 p.E439K 0.010 NULL pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHBG HGNC RHNO1 83695 genome.wustl.edu 37 12 2997539 2997539 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 2997539 2997539 G C SNP RHNO1 ENST00000489288 human ensembl 70_37 +1 known missense c.631 p.V211L 1.000 NULL NULL - no_errors RHNO1 HGNC RPRD1B 58490 genome.wustl.edu 37 20 36694563 36694563 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 36694563 36694563 G T SNP RPRD1B ENST00000373433 human ensembl 70_37 +1 known missense c.736 p.A246S 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD1B HGNC RTEL1 51750 genome.wustl.edu 37 20 62293291 62293291 + Silent SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 62293291 62293291 C G SNP RTEL1 ENST00000318100 human ensembl 70_37 +1 known silent c.390 p.S130 0.826 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC RTEL1 51750 genome.wustl.edu 37 20 62321665 62321665 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 62321665 62321665 C T SNP RTEL1 ENST00000318100 human ensembl 70_37 +1 known missense c.2284 p.R762W 0.002 NULL pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC RTN4 57142 genome.wustl.edu 37 2 55253894 55253894 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 55253894 55253894 G A SNP RTN4 ENST00000337526 human ensembl 70_37 -1 known silent c.1341 p.F447 0.931 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC RUSC2 9853 genome.wustl.edu 37 9 35548064 35548064 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 35548064 35548064 C T SNP RUSC2 ENST00000361226 human ensembl 70_37 +1 known missense c.1546 p.R516C 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC RXRA 6256 genome.wustl.edu 37 9 137300845 137300845 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 137300845 137300845 C T SNP RXRA ENST00000481739 human ensembl 70_37 +1 known missense c.490 p.R164C 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC RYR1 6261 genome.wustl.edu 37 19 38990352 38990352 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 38990352 38990352 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.7105 p.R2369W 0.999 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC SAMD10 140700 genome.wustl.edu 37 20 62608706 62608706 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 62608706 62608706 C T SNP SAMD10 ENST00000369886 human ensembl 70_37 -1 known missense c.145 p.E49K 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD10 HGNC SBNO1 55206 genome.wustl.edu 37 12 123818692 123818692 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 123818692 123818692 C T SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.817 p.D273N 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC SCN7A 6332 genome.wustl.edu 37 2 167298100 167298100 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 167298100 167298100 C G SNP SCN7A ENST00000409855 human ensembl 70_37 -1 known missense c.1963 p.E655Q 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC SEMA5B 54437 genome.wustl.edu 37 3 122634439 122634439 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 122634439 122634439 G A SNP SEMA5B ENST00000451055 human ensembl 70_37 -1 known silent c.1998 p.F666 0.966 superfamily_Thrombospondin_1_rpt pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC SERPINB11 89778 genome.wustl.edu 37 18 61387323 61387323 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 18 61387323 61387323 C G SNP SERPINB11 ENST00000536691 human ensembl 70_37 +1 known missense c.27 p.F9L 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC SGMS1 259230 genome.wustl.edu 37 10 52067007 52067007 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 10 52067007 52067007 C G SNP SGMS1 ENST00000361781 human ensembl 70_37 -1 known missense c.1137 p.K379N 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_P_Acid_Pase_2/haloperoxidase,pfscan_SAM - no_errors SGMS1 HGNC SIN3A 25942 genome.wustl.edu 37 15 75705130 75705130 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 75705130 75705130 G C SNP SIN3A ENST00000360439 human ensembl 70_37 -1 known missense c.730 p.Q244E 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC SLC12A2 6558 genome.wustl.edu 37 5 127507426 127507426 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 127507426 127507426 C G SNP SLC12A2 ENST00000262461 human ensembl 70_37 +1 known missense c.2791 p.L931V 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC SLC16A11 162515 genome.wustl.edu 37 17 6945799 6945799 + Silent SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 6945799 6945799 G T SNP SLC16A11 ENST00000308009 human ensembl 70_37 -1 known silent c.702 p.L234 0.395 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC SLC16A4 9122 genome.wustl.edu 37 1 110921794 110921794 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 110921794 110921794 G C SNP SLC16A4 ENST00000369779 human ensembl 70_37 -1 known missense c.711 p.I237M 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC SLC25A17 10478 genome.wustl.edu 37 22 41166798 41166798 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 41166798 41166798 C T SNP SLC25A17 ENST00000491545 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC25A17 HGNC SLC35B1 10237 genome.wustl.edu 37 17 47780371 47780371 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 47780371 47780371 G T SNP SLC35B1 ENST00000415270 human ensembl 70_37 -1 known missense c.876 p.S292R 0.997 pfam_UAA,pfam_DMT,pfam_DUF250 pfam_UAA,pfam_DMT,pfam_DUF250 - no_errors SLC35B1 HGNC SLC38A8 146167 genome.wustl.edu 37 16 84065527 84065527 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 84065527 84065527 C T SNP SLC38A8 ENST00000299709 human ensembl 70_37 -1 known missense c.577 p.V193M 0.986 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC SLC6A6 6533 genome.wustl.edu 37 3 14499524 14499524 + Silent SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 14499524 14499524 C G SNP SLC6A6 ENST00000360861 human ensembl 70_37 +1 known silent c.666 p.L222 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine - no_errors SLC6A6 HGNC SLC6A7 6534 genome.wustl.edu 37 5 149583535 149583535 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 149583535 149583535 G A SNP SLC6A7 ENST00000230671 human ensembl 70_37 +1 known silent c.1266 p.K422 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC SLC6A8 6535 genome.wustl.edu 37 X 152955984 152955984 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 152955984 152955984 C T SNP SLC6A8 ENST00000476466 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC6A8 HGNC SLC7A3 84889 genome.wustl.edu 37 X 70148314 70148314 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 70148314 70148314 G A SNP SLC7A3 ENST00000298085 human ensembl 70_37 -1 known silent c.699 p.D233 0.580 pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC SNORD114-1 767577 genome.wustl.edu 37 14 101416185 101416185 + RNA SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 14 101416185 101416185 G C SNP SNORD114-1 ENST00000362705 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD114-1 HGNC SOBP 55084 genome.wustl.edu 37 6 107955149 107955149 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 107955149 107955149 G A SNP SOBP ENST00000317357 human ensembl 70_37 +1 known silent c.1101 p.Q367 1.000 NULL NULL - no_errors SOBP HGNC SON 6651 genome.wustl.edu 37 21 34948919 34948919 + RNA SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 21 34948919 34948919 C G SNP SON ENST00000470533 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SON HGNC SPEG 10290 genome.wustl.edu 37 2 220342149 220342149 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 220342149 220342149 G C SNP SPEG ENST00000312358 human ensembl 70_37 +1 novel missense c.4711 p.E1571Q 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC SPHKAP 80309 genome.wustl.edu 37 2 228860311 228860311 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 228860311 228860311 G T SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known missense c.4548 p.S1516R 1.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC SPOCD1 90853 genome.wustl.edu 37 1 32280449 32280449 + Silent SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 32280449 32280449 G C SNP SPOCD1 ENST00000360482 human ensembl 70_37 -1 known silent c.486 p.L162 0.043 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC SPP1 6696 genome.wustl.edu 37 4 88904114 88904114 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 88904114 88904114 G A SNP SPP1 ENST00000509659 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SPP1 HGNC SRMS 6725 genome.wustl.edu 37 20 62178747 62178747 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 62178747 62178747 C T SNP SRMS ENST00000217188 human ensembl 70_37 -1 known missense c.70 p.G24S 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SRMS HGNC SRP14 6727 genome.wustl.edu 37 15 40331051 40331051 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 40331051 40331051 C T SNP SRP14 ENST00000559439 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SRP14 HGNC STAT5A 6776 genome.wustl.edu 37 17 40453318 40453318 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 40453318 40453318 C T SNP STAT5A ENST00000345506 human ensembl 70_37 +1 known missense c.1015 p.P339S 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC STUB1 10273 genome.wustl.edu 37 16 731466 731466 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 16 731466 731466 G A SNP STUB1 ENST00000219548 human ensembl 70_37 +1 known silent c.387 p.L129 1.000 NULL pfam_Ubox_domain,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ubox_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STUB1 HGNC TAF11 6882 genome.wustl.edu 37 6 34848131 34848131 + Nonsense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 34848131 34848131 C A SNP TAF11 ENST00000361288 human ensembl 70_37 -1 known nonsense c.343 p.E115* 1.000 pfam_TAFII28,superfamily_Histone-fold pfam_TAFII28,pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors TAF11 HGNC TAS2R41 259287 genome.wustl.edu 37 7 143175196 143175197 + Frame_Shift_Ins INS - - G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 143175196 143175197 - G INS TAS2R41 ENST00000408916 human ensembl 70_37 +1 known frame_shift_ins c.231_232 p.L79fs 0.000:0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R41 HGNC TBC1D9 23158 genome.wustl.edu 37 4 141543434 141543434 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 141543434 141543434 C T SNP TBC1D9 ENST00000442267 human ensembl 70_37 -1 known missense c.3716 p.R1239K 0.998 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC TCTN2 79867 genome.wustl.edu 37 12 124171412 124171412 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 124171412 124171412 C T SNP TCTN2 ENST00000303372 human ensembl 70_37 +1 known silent c.594 p.F198 0.874 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN2 HGNC TDH 157739 genome.wustl.edu 37 8 11197165 11197165 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 11197165 11197165 C T SNP TDH ENST00000525246 human ensembl 70_37 +1 known rna NULL NULL 0.045 - - - no_errors TDH HGNC TDRD12 91646 genome.wustl.edu 37 19 33247088 33247088 + Splice_Site SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 33247088 33247088 G T SNP TDRD12 ENST00000444215 human ensembl 70_37 +1 known splice_site c.772+1 e7+1 1.000 - - - no_errors TDRD12 HGNC TECTA 7007 genome.wustl.edu 37 11 121060587 121060587 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 121060587 121060587 G A SNP TECTA ENST00000264037 human ensembl 70_37 +1 known missense c.6365 p.R2122K 1.000 smart_EG-like_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC TEKT4 150483 genome.wustl.edu 37 2 95542304 95542304 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 95542304 95542304 G A SNP TEKT4 ENST00000295201 human ensembl 70_37 +1 known silent c.1098 p.L366 0.962 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC TENC1 23371 genome.wustl.edu 37 12 53451366 53451366 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 53451366 53451366 C T SNP TENC1 ENST00000314276 human ensembl 70_37 +1 known silent c.891 p.F297 1.000 pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC TEX11 56159 genome.wustl.edu 37 X 69774555 69774555 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 69774555 69774555 C T SNP TEX11 ENST00000344304 human ensembl 70_37 -1 known missense c.2281 p.E761K 0.989 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC TEX15 56154 genome.wustl.edu 37 8 30704643 30704643 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 30704643 30704643 C T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.1891 p.E631K 0.000 NULL NULL - no_errors TEX15 HGNC TEX15 56154 genome.wustl.edu 37 8 30705057 30705057 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 8 30705057 30705057 C G SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.1477 p.E493Q 0.946 NULL NULL - no_errors TEX15 HGNC TM2D3 80213 genome.wustl.edu 37 15 102190346 102190346 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 102190346 102190346 G T SNP TM2D3 ENST00000333202 human ensembl 70_37 -1 known missense c.188 p.P63H 0.988 NULL pfam_TM2 - no_errors TM2D3 HGNC TMC2 117532 genome.wustl.edu 37 20 2597838 2597838 + Silent SNP A A G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 2597838 2597838 A G SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known silent c.2061 p.K687 0.956 pfam_TMC pfam_TMC - no_errors TMC2 HGNC TMEM254-AS1 219347 genome.wustl.edu 37 10 81838622 81838622 + RNA SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 10 81838622 81838622 G A SNP TMEM254-AS1 ENST00000412298 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM254-AS1 HGNC TNFRSF8 943 genome.wustl.edu 37 1 12202343 12202343 + Splice_Site SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 12202343 12202343 G A SNP TNFRSF8 ENST00000263932 human ensembl 70_37 +1 known splice_site c.1544-1 e15-1 1.000 - - - no_errors TNFRSF8 HGNC TNIP3 79931 genome.wustl.edu 37 4 122071296 122071296 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 4 122071296 122071296 C T SNP TNIP3 ENST00000057513 human ensembl 70_37 -1 known missense c.571 p.E191K 0.463 NULL NULL - no_errors TNIP3 HGNC TNK2 10188 genome.wustl.edu 37 3 195608929 195608929 + Missense_Mutation SNP A A G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 195608929 195608929 A G SNP TNK2 ENST00000381916 human ensembl 70_37 -1 known missense c.1069 p.F357L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_GTPase_binding,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK2 HGNC TNRC6B 23112 genome.wustl.edu 37 22 40677147 40677147 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 22 40677147 40677147 G C SNP TNRC6B ENST00000454349 human ensembl 70_37 +1 known missense c.3436 p.D1146H 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC TPRN 286262 genome.wustl.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 9 140087025 140087027 TCC - DEL TPRN ENST00000409012 human ensembl 70_37 -1 known in_frame_del c.1844_1842 p.E618in_frame_del 0.745:0.829:0.911 NULL NULL - no_errors TPRN HGNC TRIM11 81559 genome.wustl.edu 37 1 228589841 228589841 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 228589841 228589841 C G SNP TRIM11 ENST00000284551 human ensembl 70_37 -1 known missense c.430 p.E144Q 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM11 HGNC TRPC4AP 26133 genome.wustl.edu 37 20 33603935 33603935 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 33603935 33603935 C T SNP TRPC4AP ENST00000252015 human ensembl 70_37 -1 known missense c.1226 p.R409K 1.000 pfam_DUF3689 pfam_DUF3689 - no_errors TRPC4AP HGNC TSEN2 80746 genome.wustl.edu 37 3 12544918 12544918 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 12544918 12544918 G A SNP TSEN2 ENST00000284995 human ensembl 70_37 +1 known missense c.466 p.G156R 0.000 pirsf_tRNA_splic_SEN2 pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 - no_errors TSEN2 HGNC TSEN2 80746 genome.wustl.edu 37 3 12544919 12544919 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 12544919 12544919 G A SNP TSEN2 ENST00000284995 human ensembl 70_37 +1 known missense c.467 p.G156E 0.000 pirsf_tRNA_splic_SEN2 pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 - no_errors TSEN2 HGNC TTC30A 92104 genome.wustl.edu 37 2 178482347 178482347 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 178482347 178482347 G A SNP TTC30A ENST00000355689 human ensembl 70_37 -1 known silent c.1083 p.F361 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC TTLL13 440307 genome.wustl.edu 37 15 90799080 90799080 + Missense_Mutation SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 15 90799080 90799080 T C SNP TTLL13 ENST00000438251 human ensembl 70_37 +1 known missense c.511 p.Y171H 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL13 HGNC ULBP1 80329 genome.wustl.edu 37 6 150290316 150290316 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 150290316 150290316 C G SNP ULBP1 ENST00000229708 human ensembl 70_37 +1 known missense c.445 p.L149V 0.002 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP1 HGNC URB2 9816 genome.wustl.edu 37 1 229773070 229773070 + Silent SNP T T C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 229773070 229773070 T C SNP URB2 ENST00000258243 human ensembl 70_37 +1 known silent c.2710 p.L904 0.018 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC URB2 9816 genome.wustl.edu 37 1 229773087 229773087 + Silent SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 229773087 229773087 C G SNP URB2 ENST00000258243 human ensembl 70_37 +1 known silent c.2727 p.L909 0.143 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC USP15 9958 genome.wustl.edu 37 12 62775325 62775325 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 12 62775325 62775325 G A SNP USP15 ENST00000280377 human ensembl 70_37 +1 known missense c.970 p.E324K 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP15 HGNC USP43 124739 genome.wustl.edu 37 17 9583647 9583647 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 17 9583647 9583647 C G SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.1069 p.Q357E 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC UTS2B 257313 genome.wustl.edu 37 3 190993043 190993043 + Missense_Mutation SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 190993043 190993043 C A SNP UTS2D ENST00000446788 human ensembl 70_37 -1 known missense c.332 p.R111L 0.965 NULL NULL - no_errors UTS2D HGNC WDR36 134430 genome.wustl.edu 37 5 110442995 110442995 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 5 110442995 110442995 G A SNP WDR36 ENST00000506538 human ensembl 70_37 +1 known missense c.1351 p.E451K 1.000 superfamily_Quinonprotein_ADH-like,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC WDR37 22884 genome.wustl.edu 37 10 1142135 1142135 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 10 1142135 1142135 C T SNP WDR37 ENST00000263150 human ensembl 70_37 +1 known silent c.675 p.I225 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR37 HGNC WDR4 10785 genome.wustl.edu 37 21 44273714 44273714 + Silent SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 21 44273714 44273714 G A SNP WDR4 ENST00000330317 human ensembl 70_37 -1 known silent c.940 p.L314 0.069 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR4 HGNC DAW1 164781 genome.wustl.edu 37 2 228786123 228786123 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 228786123 228786123 C T SNP WDR69 ENST00000309931 human ensembl 70_37 +1 known silent c.1059 p.F353 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR69 HGNC XDH 7498 genome.wustl.edu 37 2 31570422 31570422 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 31570422 31570422 G A SNP XDH ENST00000379416 human ensembl 70_37 -1 known missense c.3242 p.S1081F 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC XIST 7503 genome.wustl.edu 37 X 73042609 73042609 + RNA SNP C C A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 X 73042609 73042609 C A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC XRRA1 143570 genome.wustl.edu 37 11 74656099 74656099 + RNA DEL T T - TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 11 74656099 74656099 T - DEL XRRA1 ENST00000524430 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors XRRA1 HGNC ZAN 7455 genome.wustl.edu 37 7 100361686 100361686 + Missense_Mutation SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 100361686 100361686 C G SNP ZAN ENST00000546292 human ensembl 70_37 +1 known missense c.4134 p.F1378L 0.944 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ZAN 7455 genome.wustl.edu 37 7 100364824 100364824 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 100364824 100364824 G A SNP ZAN ENST00000546292 human ensembl 70_37 +1 known missense c.4804 p.V1602I 0.926 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ZBTB17 7709 genome.wustl.edu 37 1 16271698 16271698 + Splice_Site SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 1 16271698 16271698 C T SNP ZBTB17 ENST00000375733 human ensembl 70_37 -1 known splice_site c.662-1 e5-1 0.970 - - - no_errors ZBTB17 HGNC ZC3H15 55854 genome.wustl.edu 37 2 187351166 187351166 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 187351166 187351166 G C SNP ZC3H15 ENST00000337859 human ensembl 70_37 +1 known missense c.57 p.K19N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ZHX3 23051 genome.wustl.edu 37 20 39831615 39831615 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 20 39831615 39831615 C T SNP ZHX3 ENST00000373263 human ensembl 70_37 -1 known missense c.1942 p.E648K 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ZNF177 7730 genome.wustl.edu 37 19 9491916 9491916 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 9491916 9491916 G A SNP ZNF177 ENST00000434737 human ensembl 70_37 +1 known missense c.909 p.M303I 0.244 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF177 HGNC ZKSCAN8 7745 genome.wustl.edu 37 6 28121105 28121105 + Silent SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 6 28121105 28121105 C T SNP ZNF192 ENST00000330236 human ensembl 70_37 +1 known silent c.1047 p.P349 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF192 HGNC ZNF385B 151126 genome.wustl.edu 37 2 180634480 180634480 + Missense_Mutation SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 2 180634480 180634480 C T SNP ZNF385B ENST00000410066 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ZNF501 115560 genome.wustl.edu 37 3 44776538 44776538 + Missense_Mutation SNP G G C TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 3 44776538 44776538 G C SNP ZNF501 ENST00000396048 human ensembl 70_37 +1 known missense c.625 p.E209Q 0.694 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF501 HGNC ZNF536 9745 genome.wustl.edu 37 19 30935520 30935520 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 30935520 30935520 G A SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.1051 p.G351S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ZNF733P 643955 genome.wustl.edu 37 7 62752082 62752082 + RNA SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 7 62752082 62752082 C G SNP ZNF733P ENST00000331425 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF733P HGNC ZNF833P 401898 genome.wustl.edu 37 19 11796196 11796196 + RNA SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 11796196 11796196 C G SNP ZNF833P ENST00000344893 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF833P HGNC ZNF833P 401898 genome.wustl.edu 37 19 11797029 11797029 + RNA SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 11797029 11797029 C G SNP ZNF833P ENST00000344893 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF833P HGNC ZNF835 90485 genome.wustl.edu 37 19 57175591 57175591 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 57175591 57175591 G A SNP ZNF835 ENST00000537055 human ensembl 70_37 -1 known missense c.976 p.R326C 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ZNF865 100507290 genome.wustl.edu 37 19 56126826 56126826 + Silent SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 56126826 56126826 C G SNP ZNF865 ENST00000568956 human ensembl 70_37 +1 novel silent c.1842 p.V614 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF865 HGNC ZNF99 7652 genome.wustl.edu 37 19 22951113 22951113 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 22951113 22951113 G A SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.283 p.P95S 0.056 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ZSCAN5A 79149 genome.wustl.edu 37 19 56733133 56733133 + Missense_Mutation SNP G G T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 19 56733133 56733133 G T SNP ZSCAN5A ENST00000391713 human ensembl 70_37 -1 known missense c.1302 p.H434Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5A HGNC ZSWIM8 23053 genome.wustl.edu 37 10 75560667 75560667 + RNA SNP C C T TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5d134e2a-722b-4e87-93bc-5e9dae4c51c1 a36cc751-6ac0-464c-98a1-9e29735c1962 10 75560667 75560667 C T SNP ZSWIM8 ENST00000466568 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZSWIM8 HGNC