Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABI3BP 0 genome.wustl.edu 37 3 100548484 100548484 + Missense_Mutation SNP T T C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 3 100548484 100548484 T C SNP ABI3BP ENST00000471714 human ensembl 69_37n -1 novel missense c.2504 p.H835R 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 30 0 0.00 28 5 15.15 - - - ACSF2 0 genome.wustl.edu 37 17 48549940 48549940 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 17 48549940 48549940 G T SNP ACSF2 ENST00000300441 human ensembl 69_37n +1 known missense c.1475 p.G492V 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 31 0 0.00 16 3 15.79 - - - ADAM21 0 genome.wustl.edu 37 14 70924335 70924335 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 14 70924335 70924335 C T SNP ADAM21 ENST00000267499 human ensembl 69_37n +1 known missense c.119 p.P40L 0.493 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 36 0 0.00 36 6 14.29 - - - ADAM5 0 genome.wustl.edu 37 8 39250888 39250888 + RNA SNP A A G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 8 39250888 39250888 A G SNP ADAM5 ENST00000359790 human ensembl 69_37n +1 known rna NULL NULL 0.185 - - - no_errors ADAM5 HGNC ENSG00000196115 30 0 0.00 22 7 24.14 - - - AIF1L 0 genome.wustl.edu 37 9 133981629 133981629 + Missense_Mutation SNP T T C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 9 133981629 133981629 T C SNP AIF1L ENST00000372309 human ensembl 69_37n +1 known missense c.148 p.C50R 0.001 NULL pfscan_EF_HAND_2 - no_errors AIF1L HGNC ENSG00000126878 58 0 0.00 36 5 12.20 - - - AMIGO3 0 genome.wustl.edu 37 3 49756562 49756562 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 3 49756562 49756562 G T SNP AMIGO3 ENST00000320431 human ensembl 69_37n -1 known missense c.337 p.L113M 0.141 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors AMIGO3 HGNC ENSG00000176020 50 0 0.00 28 4 12.50 - - - ANGEL2 0 genome.wustl.edu 37 1 213174137 213174137 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 213174137 213174137 C T SNP ANGEL2 ENST00000366962 human ensembl 69_37n -1 known missense c.1252 p.E418K 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL2 HGNC ENSG00000174606 38 0 0.00 68 9 11.69 - - - ANKRD19P 0 genome.wustl.edu 37 9 95599282 95599282 + RNA SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 9 95599282 95599282 C T SNP ANKRD19P ENST00000464387 human ensembl 69_37n +1 known rna NULL NULL 0.993 - - - no_errors ANKRD19P HGNC ENSG00000187984 27 0 0.00 44 9 16.98 - - - ANKRD30B 0 genome.wustl.edu 37 18 14848820 14848820 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 18 14848820 14848820 C T SNP ANKRD30B ENST00000358984 human ensembl 69_37n +1 known missense c.2930 p.T977M 0.957 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 35 0 0.00 30 8 21.05 - - - ANO9 0 genome.wustl.edu 37 11 428823 428823 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 11 428823 428823 C T SNP ANO9 ENST00000332826 human ensembl 69_37n -1 known missense c.919 p.E307K 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 50 0 0.00 45 9 16.67 - - - AP1G2 0 genome.wustl.edu 37 14 24035577 24035577 + Missense_Mutation SNP C C G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 14 24035577 24035577 C G SNP AP1G2 ENST00000308724 human ensembl 69_37n -1 known missense c.381 p.L127F 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 35 0 0.00 30 4 11.76 - - - AP4M1 0 genome.wustl.edu 37 7 99702514 99702514 + Silent SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 7 99702514 99702514 G T SNP AP4M1 ENST00000359593 human ensembl 69_37n +1 known silent c.624 p.V208 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP4M1 HGNC ENSG00000221838 58 0 0.00 50 7 12.28 - - - APBB2 0 genome.wustl.edu 37 4 41015823 41015823 + Silent SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 4 41015823 41015823 G T SNP APBB2 ENST00000295974 human ensembl 69_37n -1 known silent c.612 p.G204 0.016 NULL pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB2 HGNC ENSG00000163697 53 0 0.00 71 11 12.79 - - - ARHGAP30 0 genome.wustl.edu 37 1 161018356 161018356 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 161018356 161018356 C T SNP ARHGAP30 ENST00000368013 human ensembl 69_37n -1 known missense c.2455 p.D819N 0.006 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 143 0 0.00 151 21 12.21 - - - ARHGAP39 0 genome.wustl.edu 37 8 145758691 145758691 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 8 145758691 145758691 C T SNP ARHGAP39 ENST00000377307 human ensembl 69_37n -1 known missense c.2707 p.V903M 0.948 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 53 0 0.00 56 10 15.15 - - - ARHGEF38 0 genome.wustl.edu 37 4 106588724 106588724 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 4 106588724 106588724 C T SNP ARHGEF38 ENST00000420470 human ensembl 69_37n +1 putative missense c.2012 p.S671L 0.991 NULL pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ENSG00000236699 24 0 0.00 25 6 19.35 - - - ARHGEF4 0 genome.wustl.edu 37 2 131674285 131674285 + Silent SNP A A G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 2 131674285 131674285 A G SNP ARHGEF4 ENST00000409359 human ensembl 69_37n +1 putative silent c.1776 p.S592 0.034 NULL NULL - no_errors ARHGEF4 HGNC ENSG00000136002 11 0 0.00 16 6 27.27 - - - ARHGEF40 0 genome.wustl.edu 37 14 21543675 21543675 + Silent SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 14 21543675 21543675 G T SNP ARHGEF40 ENST00000555038 human ensembl 69_37n +1 novel silent c.1635 p.V545 0.073 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region ARHGEF40 HGNC ENSG00000165801 20 0 0.00 21 4 16.00 - - - ARIH1 0 genome.wustl.edu 37 15 72875842 72875842 + RNA SNP A A G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 15 72875842 72875842 A G SNP ARIH1 ENST00000562891 human ensembl 69_37n +1 putative rna NULL NULL 0.997 - - - no_errors ARIH1 HGNC ENSG00000166233 12 0 0.00 11 6 35.29 - - - ARMCX1 0 genome.wustl.edu 37 X 100808302 100808302 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d X 100808302 100808302 G T SNP ARMCX1 ENST00000372829 human ensembl 69_37n +1 known missense c.389 p.G130V 0.002 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 50 0 0.00 36 4 10.00 - - - ASPH 0 genome.wustl.edu 37 8 62475413 62475413 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 8 62475413 62475413 G T SNP ASPH ENST00000379454 human ensembl 69_37n -1 known missense c.1327 p.L443M 0.998 pfscan_TPR-contain_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 38 0 0.00 30 4 11.76 - - - ATP7A 0 genome.wustl.edu 37 X 77271371 77271371 + Silent SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d X 77271371 77271371 C T SNP ATP7A ENST00000341514 human ensembl 69_37n +1 known silent c.2619 p.L873 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 38 0 0.00 40 8 16.67 - - - BIRC7 0 genome.wustl.edu 37 20 61869661 61869661 + Silent SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 20 61869661 61869661 G A SNP BIRC7 ENST00000395306 human ensembl 69_37n +1 putative silent c.102 p.G34 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors BIRC7 HGNC ENSG00000101197 9 0 0.00 9 14 60.87 - - - BRAP 0 genome.wustl.edu 37 12 112103450 112103450 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 12 112103450 112103450 C T SNP BRAP ENST00000419234 human ensembl 69_37n -1 known missense c.889 p.D297N 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 57 0 0.00 62 7 10.14 - - - C10orf108 0 genome.wustl.edu 37 10 696237 696237 + Missense_Mutation SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 10 696237 696237 G A SNP C10orf108 ENST00000381489 human ensembl 69_37n +1 known missense c.187 p.G63R 0.006 NULL NULL - no_errors C10orf108 HGNC ENSG00000180525 55 0 0.00 35 4 10.26 - - - C19orf81 0 genome.wustl.edu 37 19 51159359 51159359 + Silent SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 19 51159359 51159359 G T SNP C19orf81 ENST00000425202 human ensembl 69_37n +1 novel silent c.120 p.L40 0.921 NULL NULL - no_errors C19orf81 HGNC ENSG00000235034 43 0 0.00 32 4 11.11 - - - C1orf105 0 genome.wustl.edu 37 1 172422209 172422209 + Silent SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 172422209 172422209 C T SNP C1orf105 ENST00000367725 human ensembl 69_37n +1 putative silent c.48 p.V16 0.000 NULL NULL - no_errors C1orf105 HGNC ENSG00000180999 52 0 0.00 63 8 11.27 - - - C3orf78 0 genome.wustl.edu 37 3 52570843 52570843 + Silent SNP G G C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 3 52570843 52570843 G C SNP C3orf78 ENST00000477703 human ensembl 69_37n +1 known silent c.72 p.R24 1.000 NULL NULL - no_errors C3orf78 HGNC ENSG00000168273 60 0 0.00 70 11 13.58 - - - CCDC57 0 genome.wustl.edu 37 17 80092131 80092131 + RNA SNP T T C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 17 80092131 80092131 T C SNP CCDC57 ENST00000483145 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors CCDC57 HGNC ENSG00000176155 32 0 0.00 27 4 12.90 - - - CD247 0 genome.wustl.edu 37 1 167403322 167403322 + RNA SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 167403322 167403322 G A SNP CD247 ENST00000483825 human ensembl 69_37n -1 known rna NULL NULL 0.006 - - - no_errors CD247 HGNC ENSG00000198821 33 0 0.00 33 5 12.82 - - - CDH1 0 genome.wustl.edu 37 16 68772218 68772218 + Nonsense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 16 68772218 68772218 C T SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known nonsense c.67 p.Q23* 0.982 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 65 0 0.00 44 9 16.98 - - - CEP89 0 genome.wustl.edu 37 19 33422404 33422404 + Missense_Mutation SNP C C G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 19 33422404 33422404 C G SNP CEP89 ENST00000305768 human ensembl 69_37n -1 known missense c.960 p.M320I 0.999 NULL NULL - no_errors CEP89 HGNC ENSG00000121289 22 0 0.00 28 6 17.14 - - - CNTNAP2 0 genome.wustl.edu 37 7 148113895 148113895 + RNA SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 7 148113895 148113895 G A SNP CNTNAP2 ENST00000463592 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors CNTNAP2 HGNC ENSG00000174469 23 0 0.00 31 5 13.89 - - - CNTNAP3B 0 genome.wustl.edu 37 9 43685298 43685298 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 9 43685298 43685298 G T SNP CNTNAP3B ENST00000377564 human ensembl 69_37n +1 known missense c.4 p.A2S 0.925 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 24 0 0.00 29 7 18.92 - - - CNTRL 0 genome.wustl.edu 37 9 123888047 123888047 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 9 123888047 123888047 G T SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known missense c.1858 p.G620W 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 34 0 0.00 44 5 10.20 - - - CRYGA 0 genome.wustl.edu 37 2 209027930 209027930 + Missense_Mutation SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 2 209027930 209027930 G A SNP CRYGA ENST00000304502 human ensembl 69_37n -1 known missense c.250 p.H84Y 0.008 superfamily_G_crystallin-rel pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 49 0 0.00 51 8 13.33 - - - DDX39B 0 genome.wustl.edu 37 6 31506691 31506691 + Missense_Mutation SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 6 31506691 31506691 G A SNP DDX39B ENST00000428450 human ensembl 69_37n -1 known missense c.365 p.P122L 0.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfscan_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif - no_stop_codon DDX39B HGNC ENSG00000198563 33 0 0.00 35 4 10.26 - - - DLC1 0 genome.wustl.edu 37 8 12957134 12957134 + Silent SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 8 12957134 12957134 G A SNP DLC1 ENST00000276297 human ensembl 69_37n -1 known silent c.2712 p.P904 0.003 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 50 0 0.00 38 8 17.39 - - - DNAH1 0 genome.wustl.edu 37 3 52388987 52388987 + Missense_Mutation SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 3 52388987 52388987 G A SNP DNAH1 ENST00000420323 human ensembl 69_37n +1 known missense c.3609 p.M1203I 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 39 0 0.00 25 4 13.79 - - - EPHA6 0 genome.wustl.edu 37 3 97365038 97365038 + Missense_Mutation SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 3 97365038 97365038 G A SNP EPHA6 ENST00000514100 human ensembl 69_37n +1 novel missense c.1036 p.E346K 0.001 smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 28 0 0.00 23 5 17.86 - - - FAM205B 0 genome.wustl.edu 37 9 34837574 34837574 + RNA SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 9 34837574 34837574 C T SNP FAM205B ENST00000378786 human ensembl 69_37n -1 known rna NULL NULL 0.008 - - - no_errors FAM205B HGNC ENSG00000215204 47 0 0.00 43 5 10.42 - - - FASTKD2 0 genome.wustl.edu 37 2 207656460 207656460 + Silent SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 2 207656460 207656460 G A SNP FASTKD2 ENST00000236980 human ensembl 69_37n +1 known silent c.2067 p.L689 0.986 pfam_RAP,smart_RAP pfam_FAST_Leu-rich,pfam_FAST_2,pfam_RAP,smart_RAP - no_errors FASTKD2 HGNC ENSG00000118246 32 0 0.00 52 6 10.34 - - - FBXL19-AS1 0 genome.wustl.edu 37 16 30934062 30934062 + RNA SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 16 30934062 30934062 C T SNP FBXL19-AS1 ENST00000563777 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors FBXL19-AS1 HGNC ENSG00000260852 29 0 0.00 35 7 16.67 - - - FBXO17 0 genome.wustl.edu 37 19 39437131 39437131 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 19 39437131 39437131 C T SNP FBXO17 ENST00000448145 human ensembl 69_37n -1 known missense c.43 p.E15K 0.998 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pirsf_Ser-tRNA-synth_IIa,pfam_F-box-assoc_dom,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_Galactose-bd-like,superfamily_tRNA-bd_arm,prints_Ser-tRNA-synth_IIa,pfscan_F-box-assoc_dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-synth_IIa - no_errors FBXO17 HGNC ENSG00000104835 26 0 0.00 31 4 11.43 - - - FKBP1A 0 genome.wustl.edu 37 20 1350709 1350709 + RNA SNP T T C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 20 1350709 1350709 T C SNP FKBP1A ENST00000460490 human ensembl 69_37n -1 known rna NULL NULL 0.984 - - - no_errors FKBP1A HGNC ENSG00000088832 22 0 0.00 18 4 18.18 - - - FLG 0 genome.wustl.edu 37 1 152278093 152278093 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 152278093 152278093 C T SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.9269 p.R3090H 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 106 0 0.00 101 23 18.55 - - - FRMD4A 0 genome.wustl.edu 37 10 13705482 13705482 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 10 13705482 13705482 G T SNP FRMD4A ENST00000357447 human ensembl 69_37n -1 known missense c.1631 p.S544Y 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 70 0 0.00 36 4 10.00 - - - GPR114 0 genome.wustl.edu 37 16 57624549 57624549 + RNA SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 16 57624549 57624549 G A SNP GPR114 ENST00000569839 human ensembl 69_37n +1 known rna NULL NULL 0.021 - - - no_errors GPR114 HGNC ENSG00000159618 38 0 0.00 35 4 10.26 - - - GPR17 0 genome.wustl.edu 37 2 128409419 128409419 + RNA SNP A A G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 2 128409419 128409419 A G SNP GPR17 ENST00000486700 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors GPR17 HGNC ENSG00000144230 22 0 0.00 27 5 15.62 - - - GPR179 0 genome.wustl.edu 37 17 36490694 36490694 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 17 36490694 36490694 G T SNP GPR179 ENST00000342292 human ensembl 69_37n -1 known missense c.1677 p.F559L 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 29 0 0.00 28 4 12.50 - - - GVINP1 0 genome.wustl.edu 37 11 6739407 6739407 + RNA SNP A A G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 11 6739407 6739407 A G SNP GVINP1 ENST00000526769 human ensembl 69_37n -1 known rna NULL NULL 0.934 - - - no_errors GVINP1 HGNC ENSG00000254838 37 0 0.00 49 6 10.91 - - - HCFC1 0 genome.wustl.edu 37 X 153218022 153218022 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d X 153218022 153218022 C T SNP HCFC1 ENST00000310441 human ensembl 69_37n -1 known missense c.4885 p.E1629K 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 43 0 0.00 38 9 19.15 - - - HCG9 0 genome.wustl.edu 37 6 29943281 29943281 + RNA SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 6 29943281 29943281 G A SNP HCG9 ENST00000376800 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors HCG9 HGNC ENSG00000204625 32 0 0.00 34 6 15.00 - - - HECTD4 0 genome.wustl.edu 37 12 112743982 112743982 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 12 112743982 112743982 G T SNP HECTD4 ENST00000377560 human ensembl 69_37n -1 known missense c.789 p.S263R 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 31 0 0.00 18 4 18.18 - - - HLA-A 0 genome.wustl.edu 37 6 29910604 29910604 + Silent SNP C C A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 6 29910604 29910604 C A SNP HLA-A ENST00000376806 human ensembl 69_37n +1 known silent c.144 p.A48 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 47 0 0.00 41 5 10.87 - - - HLA-A 0 genome.wustl.edu 37 6 29912315 29912315 + Missense_Mutation SNP A A C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 6 29912315 29912315 A C SNP HLA-A ENST00000376806 human ensembl 69_37n +1 known missense c.934 p.I312L 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 85 0 0.00 94 11 10.48 - - - HLA-P 0 genome.wustl.edu 37 6 29760590 29760590 + RNA SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 6 29760590 29760590 G A SNP HLA-P ENST00000446817 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors HLA-P HGNC ENSG00000181126 9 0 0.00 3 7 70.00 - - - IFNAR1 0 genome.wustl.edu 37 21 34721850 34721850 + Splice_Site SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 21 34721850 34721850 G T SNP IFNAR1 ENST00000270139 human ensembl 69_37n +1 known splice_site c.1143+1 e8+1 1.000 - - - no_errors IFNAR1 HGNC ENSG00000142166 34 0 0 21 3 12.5 - - - IFNAR1 0 genome.wustl.edu 37 21 34721850 34721850 + Splice_Site SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 21 34721850 34721850 G T SNP IFNAR1 ENST00000270139 human ensembl 69_37n +1 known splice_site c.1143+1 e8+1 1.000 - - - no_errors IFNAR1 HGNC ENSG00000142166 34 0 0.00 21 3 12.50 - - - IKZF1 0 genome.wustl.edu 37 7 50367360 50367360 + RNA SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 7 50367360 50367360 G T SNP IKZF1 ENST00000484847 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors IKZF1 HGNC ENSG00000185811 34 0 0.00 34 4 10.53 - - - KCNRG 0 genome.wustl.edu 37 13 50594417 50594417 + Missense_Mutation SNP G G C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 13 50594417 50594417 G C SNP KCNRG ENST00000312942 human ensembl 69_37n +1 known missense c.646 p.D216H 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCNRG HGNC ENSG00000198553 44 0 0.00 47 10 17.54 - - - KLHL22 0 genome.wustl.edu 37 22 20847472 20847472 + Missense_Mutation SNP A A T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 22 20847472 20847472 A T SNP KLHL22 ENST00000443285 human ensembl 69_37n -1 putative missense c.32 p.L11H 0.063 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_stop_codon:bad_bp_length_for_coding_region KLHL22 HGNC ENSG00000099910 29 0 0.00 31 4 11.43 - - - LAMA5 0 genome.wustl.edu 37 20 60902992 60902992 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 20 60902992 60902992 G T SNP LAMA5 ENST00000252999 human ensembl 69_37n -1 known missense c.4727 p.P1576H 0.870 pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 24 0 0.00 25 4 13.79 - - - LINC00470 0 genome.wustl.edu 37 18 1272481 1272481 + RNA SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 18 1272481 1272481 G T SNP LINC00470 ENST00000269201 human ensembl 69_37n -1 known rna NULL NULL 0.065 - - - no_errors LINC00470 HGNC ENSG00000132204 44 0 0.00 19 3 13.64 - - - LINGO4 0 genome.wustl.edu 37 1 151773634 151773634 + Missense_Mutation SNP A A G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 151773634 151773634 A G SNP LINGO4 ENST00000368820 human ensembl 69_37n -1 known missense c.1547 p.I516T 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO4 HGNC ENSG00000213171 29 0 0.00 28 5 15.15 - - - LRRC37A11P 0 genome.wustl.edu 37 17 37188240 37188240 + RNA SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 17 37188240 37188240 C T SNP LRRC37A11P ENST00000425901 human ensembl 69_37n +1 known rna NULL NULL 0.006 - - - no_errors LRRC37A11P HGNC ENSG00000214553 81 0 0.00 90 11 10.78 - - - LSM6 0 genome.wustl.edu 37 4 147104263 147104263 + RNA SNP A A G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 4 147104263 147104263 A G SNP LSM6 ENST00000503982 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors LSM6 HGNC ENSG00000164167 27 0 0.00 22 4 15.38 - - - LSP1 0 genome.wustl.edu 37 11 1891771 1891771 + Missense_Mutation SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 11 1891771 1891771 G A SNP LSP1 ENST00000418975 human ensembl 69_37n +1 putative missense c.83 p.R28K 0.002 NULL prints_Lymphspecific - no_stop_codon LSP1 HGNC ENSG00000130592 40 0 0.00 39 7 15.22 - - - MALL 0 genome.wustl.edu 37 2 110855123 110855123 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 2 110855123 110855123 G T SNP MALL ENST00000424988 human ensembl 69_37n -1 known missense c.164 p.A55E 0.001 NULL NULL - no_errors MALL HGNC ENSG00000144063 26 0 0.00 25 5 16.67 - - - MEAF6 0 genome.wustl.edu 37 1 37959450 37959450 + RNA SNP T T C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 37959450 37959450 T C SNP MEAF6 ENST00000475828 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors MEAF6 HGNC ENSG00000163875 41 0 0.00 33 5 13.16 - - - MEIS1 0 genome.wustl.edu 37 2 66798424 66798424 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 2 66798424 66798424 G T SNP MEIS1 ENST00000407092 human ensembl 69_37n +1 known missense c.1161 p.M387I 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS1 HGNC ENSG00000143995 27 0 0.00 31 4 11.11 - - - MIR550A1 0 genome.wustl.edu 37 7 30329454 30329456 + RNA DEL TGT TGT - TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 7 30329454 30329456 TGT - DEL MIR550A1 ENST00000385037 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.002:0.010 - - - no_errors MIR550A1 HGNC ENSG00000207771 42 0 0.00 61 9 12.86 - - - MKRN2 0 genome.wustl.edu 37 3 12623430 12623430 + Silent SNP C C G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 3 12623430 12623430 C G SNP MKRN2 ENST00000170447 human ensembl 69_37n +1 known silent c.1092 p.L364 0.991 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN2 HGNC ENSG00000075975 34 0 0.00 47 7 12.73 - - - MMP16 0 genome.wustl.edu 37 8 89081730 89081730 + RNA SNP T T C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 8 89081730 89081730 T C SNP MMP16 ENST00000544227 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors MMP16 HGNC ENSG00000156103 31 0 0.00 22 3 12.00 - - - MUC19 0 genome.wustl.edu 37 12 40915480 40915480 + RNA SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 12 40915480 40915480 G A SNP MUC19 ENST00000398702 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors MUC19 HGNC ENSG00000205592 77 0 0.00 57 8 12.31 - - - MUC19 0 genome.wustl.edu 37 12 40921902 40921902 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 12 40921902 40921902 C T SNP MUC19 ENST00000424466 human ensembl 69_37n +1 novel missense c.46 p.L16F 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MUC19 HGNC ENSG00000205592 66 0 0.00 43 5 10.42 - - - MUC5B 0 genome.wustl.edu 37 11 1272881 1272881 + Nonsense_Mutation SNP C C G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 11 1272881 1272881 C G SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known nonsense c.14780 p.S4927* 0.003 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,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 MUC5B HGNC ENSG00000117983 32 0 0.00 33 5 13.16 - - - MYT1L 0 genome.wustl.edu 37 2 1926210 1926210 + Missense_Mutation SNP C C G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 2 1926210 1926210 C G SNP MYT1L ENST00000399161 human ensembl 69_37n -1 known missense c.1331 p.R444T 0.991 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 46 0 0.00 35 6 14.63 - - - NSUN4 0 genome.wustl.edu 37 1 46827769 46827769 + RNA SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 46827769 46827769 C T SNP NSUN4 ENST00000307089 human ensembl 69_37n +1 known rna NULL NULL 0.007 - - - no_errors NSUN4 HGNC ENSG00000117481 41 0 0.00 29 4 12.12 - - - NTN1 0 genome.wustl.edu 37 17 9086708 9086708 + Missense_Mutation SNP T T C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 17 9086708 9086708 T C SNP NTN1 ENST00000436734 human ensembl 69_37n +1 putative missense c.415 p.W139R 0.000 NULL pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin - no_start_codon NTN1 HGNC ENSG00000065320 47 0 0.00 23 6 20.69 - - - OR13C5 0 genome.wustl.edu 37 9 107361642 107361642 + Missense_Mutation SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 9 107361642 107361642 G A SNP OR13C5 ENST00000374779 human ensembl 69_37n -1 known missense c.53 p.S18F 0.002 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13C5 HGNC ENSG00000255800 34 0 0.00 23 4 14.81 - - - OR1D5 0 genome.wustl.edu 37 17 2966273 2966273 + Missense_Mutation SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 17 2966273 2966273 G A SNP OR1D5 ENST00000575751 human ensembl 69_37n -1 known missense c.629 p.P210L 0.006 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1D5 Clone_based_vega_gene ENSG00000262628 79 0 0.00 78 9 10.34 - - - OR6J1 0 genome.wustl.edu 37 14 23103354 23103354 + Silent SNP A A G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 14 23103354 23103354 A G SNP OR6J1 ENST00000540461 human ensembl 69_37n -1 known silent c.363 p.R121 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6J1 HGNC ENSG00000255804 34 0 0.00 39 5 11.36 - - - OR8B2 0 genome.wustl.edu 37 11 124253147 124253147 + Silent SNP A A G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 11 124253147 124253147 A G SNP OR8B2 ENST00000375013 human ensembl 69_37n -1 known silent c.93 p.F31 0.003 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8B2 HGNC ENSG00000204293 61 0 0.00 56 7 11.11 - - - ORAI2 0 genome.wustl.edu 37 7 102079406 102079406 + Missense_Mutation SNP G G C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 7 102079406 102079406 G C SNP ORAI2 ENST00000356387 human ensembl 69_37n +1 known missense c.3 p.M1I 1.000 NULL pfam_CRAC_channel - no_errors ORAI2 HGNC ENSG00000160991 48 0 0.00 51 11 17.46 - - - PAPSS1 0 genome.wustl.edu 37 4 108552875 108552875 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 4 108552875 108552875 G T SNP PAPSS1 ENST00000265174 human ensembl 69_37n -1 known missense c.1648 p.P550T 1.000 pfam_Sulfurylase_cat_dom,tigrfam_Sulphate_adenylyltransferase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS1 HGNC ENSG00000138801 40 0 0.00 26 4 13.33 - - - PARP1 0 genome.wustl.edu 37 1 226589972 226589972 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 226589972 226589972 G T SNP PARP1 ENST00000366794 human ensembl 69_37n -1 known missense c.229 p.L77I 1.000 pfam_Znf_PARP,pirsf_NAD_ADPRT,pfscan_Znf_PARP pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 27 0 0.00 26 4 13.33 - - - PCID2 0 genome.wustl.edu 37 13 113845059 113845059 + RNA SNP T T C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 13 113845059 113845059 T C SNP PCID2 ENST00000491548 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PCID2 HGNC ENSG00000126226 14 0 0.00 6 6 50.00 - - - PCYT1B 0 genome.wustl.edu 37 X 24608283 24608283 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d X 24608283 24608283 C T SNP PCYT1B ENST00000379144 human ensembl 69_37n -1 known missense c.343 p.D115N 1.000 pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel - no_errors PCYT1B HGNC ENSG00000102230 38 0 0.00 39 6 13.33 - - - PLBD2 0 genome.wustl.edu 37 12 113810596 113810596 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 12 113810596 113810596 C T SNP PLBD2 ENST00000280800 human ensembl 69_37n +1 known missense c.527 p.S176L 0.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 40 0 0.00 31 7 18.42 - - - PLK1 0 genome.wustl.edu 37 16 23701345 23701345 + Silent SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 16 23701345 23701345 G A SNP PLK1 ENST00000300093 human ensembl 69_37n +1 known silent c.1773 p.L591 0.994 NULL pfam_Prot_kinase_cat_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK1 HGNC ENSG00000166851 46 0 0.00 52 13 20.00 - - - PNRC1 0 genome.wustl.edu 37 6 89790641 89790641 + Missense_Mutation SNP G G C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 6 89790641 89790641 G C SNP PNRC1 ENST00000336032 human ensembl 69_37n +1 known missense c.28 p.E10Q 0.885 NULL NULL - no_errors PNRC1 HGNC ENSG00000146278 63 0 0.00 59 9 13.24 - - - POTEE 0 genome.wustl.edu 37 2 132022031 132022031 + Silent SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 2 132022031 132022031 C T SNP POTEE ENST00000356920 human ensembl 69_37n +1 known silent c.3003 p.G1001 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors AC131180.1 Clone_based_ensembl_gene ENSG00000188219 26 0 0.00 16 5 23.81 - - - PPP6R3 0 genome.wustl.edu 37 11 68305274 68305274 + Missense_Mutation SNP C C G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 11 68305274 68305274 C G SNP PPP6R3 ENST00000393799 human ensembl 69_37n +1 known missense c.142 p.L48V 1.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC ENSG00000110075 49 0 0.00 33 5 13.16 - - - PROX1 0 genome.wustl.edu 37 1 214170480 214170480 + Missense_Mutation SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 214170480 214170480 G A SNP PROX1 ENST00000261454 human ensembl 69_37n +1 known missense c.602 p.R201Q 1.000 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 22 0 0.00 19 9 32.14 - - - PRR4 0 genome.wustl.edu 37 12 11324176 11324176 + RNA SNP C C A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 12 11324176 11324176 C A SNP PRR4 ENST00000535024 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PRR4 HGNC ENSG00000111215 32 0 0.00 29 6 17.14 - - - PTPN7 0 genome.wustl.edu 37 1 202119308 202119308 + RNA SNP T T C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 202119308 202119308 T C SNP PTPN7 ENST00000492977 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors PTPN7 HGNC ENSG00000143851 30 0 0.00 28 4 12.50 - - - PTPRVP 0 genome.wustl.edu 37 1 202156482 202156482 + RNA SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 202156482 202156482 G A SNP PTPRVP ENST00000482597 human ensembl 69_37n +1 known rna NULL NULL 0.979 - - - no_errors PTPRVP HGNC ENSG00000243323 34 0 0.00 21 6 22.22 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037819 10037819 + RNA SNP T T G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d Y 10037819 10037819 T G SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 37 0 0.00 36 8 18.18 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037835 10037835 + RNA SNP T T C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d Y 10037835 10037835 T C SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 38 0 0.00 31 8 20.51 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d Y 10037863 10037863 C - DEL RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 17 0 0.00 24 4 12.50 - - - RPL23AP7 0 genome.wustl.edu 37 2 114369771 114369771 + RNA SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 2 114369771 114369771 C T SNP RPL23AP7 ENST00000391616 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors AL078621.11 Clone_based_vega_gene ENSG00000240356 35 0 0.00 24 5 17.24 - - - RUNX1 0 genome.wustl.edu 37 21 36421175 36421175 + Missense_Mutation SNP C C G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 21 36421175 36421175 C G SNP RUNX1 ENST00000300305 human ensembl 69_37n -1 known missense c.22 p.E8Q 1.000 pirsf_TF_Runt-rel_RUNX pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 33 0 0.00 31 4 11.43 - - - SAA2-SAA4 0 genome.wustl.edu 37 11 18252993 18252993 + RNA SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 11 18252993 18252993 G T SNP SAA2-SAA4 ENST00000524555 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SAA2-SAA4 HGNC ENSG00000255071 22 0 0.00 23 5 17.86 - - - SH3GL1P1 0 genome.wustl.edu 37 17 30367618 30367618 + RNA SNP C C G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 17 30367618 30367618 C G SNP SH3GL1P1 ENST00000582640 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SH3GL1P1 HGNC ENSG00000266777 45 0 0.00 34 4 10.53 - - - SH3GL1P1 0 genome.wustl.edu 37 17 30368062 30368062 + RNA SNP A A G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 17 30368062 30368062 A G SNP SH3GL1P1 ENST00000579186 human ensembl 69_37n +1 known rna NULL NULL 0.563 - - - no_errors SH3GL1P1 HGNC ENSG00000266777 50 0 0.00 43 7 13.73 - - - SH3YL1 0 genome.wustl.edu 37 2 262335 262335 + RNA SNP A A G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 2 262335 262335 A G SNP SH3YL1 ENST00000468321 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SH3YL1 HGNC ENSG00000035115 41 0 0.00 29 4 12.12 - - - SKOR2 0 genome.wustl.edu 37 18 44773382 44773382 + Missense_Mutation SNP A A T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 18 44773382 44773382 A T SNP SKOR2 ENST00000425639 human ensembl 69_37n -1 novel missense c.2173 p.C725S 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like,superfamily_FH2_actin-bd - no_errors SKOR2 HGNC ENSG00000215474 26 0 0.00 27 5 15.15 - - - SLC25A14 0 genome.wustl.edu 37 X 129498836 129498836 + RNA SNP T T A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d X 129498836 129498836 T A SNP SLC25A14 ENST00000471795 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SLC25A14 HGNC ENSG00000102078 21 0 0.00 23 5 17.24 - - - SLC2A13 0 genome.wustl.edu 37 12 40422143 40422143 + Silent SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 12 40422143 40422143 G A SNP SLC2A13 ENST00000280871 human ensembl 69_37n -1 known silent c.885 p.I295 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 56 0 0.00 39 9 18.75 - - - SMC1B 0 genome.wustl.edu 37 22 45741354 45741354 + Missense_Mutation SNP C C G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 22 45741354 45741354 C G SNP SMC1B ENST00000357450 human ensembl 69_37n -1 known missense c.3592 p.G1198R 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 23 0 0.00 18 4 17.39 - - - SMUG1 0 genome.wustl.edu 37 12 54575800 54575800 + RNA SNP C C A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 12 54575800 54575800 C A SNP SMUG1 ENST00000505662 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SMUG1 HGNC ENSG00000123415 35 0 0.00 35 5 12.50 - - - SNTB1 0 genome.wustl.edu 37 8 121583603 121583603 + RNA SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 8 121583603 121583603 G A SNP SNTB1 ENST00000519177 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SNTB1 HGNC ENSG00000172164 45 0 0.00 30 5 13.89 - - - SPAG11B 0 genome.wustl.edu 37 8 7320265 7320265 + Missense_Mutation SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 8 7320265 7320265 G A SNP SPAG11B ENST00000398462 human ensembl 69_37n -1 known missense c.178 p.R60W 0.000 pfam_Sperm_Ag_HE2 pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ - no_errors SPAG11B HGNC ENSG00000164871 52 0 0.00 50 8 13.79 - - - SSBP2 0 genome.wustl.edu 37 5 80715913 80715913 + RNA SNP T T G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 5 80715913 80715913 T G SNP SSBP2 ENST00000510060 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SSBP2 HGNC ENSG00000145687 32 0 0.00 30 4 11.76 - - - TAF15 0 genome.wustl.edu 37 17 34147185 34147185 + Silent SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 17 34147185 34147185 G A SNP TAF15 ENST00000588240 human ensembl 69_37n +1 known silent c.117 p.G39 1.000 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC ENSG00000172660 72 0 0.00 55 19 25.33 - - - TAF1L 0 genome.wustl.edu 37 9 32632045 32632045 + Missense_Mutation SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 9 32632045 32632045 G A SNP TAF1L ENST00000242310 human ensembl 69_37n -1 known missense c.3533 p.S1178F 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 47 0 0.00 61 11 15.07 - - - TBC1D8B 0 genome.wustl.edu 37 X 106117064 106117064 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d X 106117064 106117064 G T SNP TBC1D8B ENST00000357242 human ensembl 69_37n +1 known missense c.3232 p.A1078S 1.000 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 TBC1D8B HGNC ENSG00000133138 38 0 0.00 34 8 18.60 - - - TBX2 0 genome.wustl.edu 37 17 59486624 59486624 + RNA SNP G G C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 17 59486624 59486624 G C SNP TBX2 ENST00000586986 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TBX2 HGNC ENSG00000121068 35 0 0.00 27 4 12.90 - - - TBXAS1 0 genome.wustl.edu 37 7 139652440 139652440 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 7 139652440 139652440 C T SNP TBXAS1 ENST00000416849 human ensembl 69_37n +1 known missense c.544 p.P182S 0.002 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors TBXAS1 HGNC ENSG00000059377 33 0 0.00 35 4 10.26 - - - TCEANC 0 genome.wustl.edu 37 X 13682577 13682577 + RNA SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d X 13682577 13682577 G A SNP TCEANC ENST00000490617 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TCEANC HGNC ENSG00000176896 73 0 0.00 99 16 13.91 - - - TDRD7 0 genome.wustl.edu 37 9 100223030 100223030 + Missense_Mutation SNP A A T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 9 100223030 100223030 A T SNP TDRD7 ENST00000355295 human ensembl 69_37n +1 known missense c.1426 p.N476Y 1.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 32 0 0.00 20 3 13.04 - - - TINF2 0 genome.wustl.edu 37 14 24709337 24709337 + Missense_Mutation SNP G G C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 14 24709337 24709337 G C SNP TINF2 ENST00000267415 human ensembl 69_37n -1 known missense c.1154 p.S385C 0.542 NULL NULL - no_errors TINF2 HGNC ENSG00000092330 37 0 0.00 49 6 10.91 - - - TLE4 0 genome.wustl.edu 37 9 82286352 82286352 + RNA SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 9 82286352 82286352 G A SNP TLE4 ENST00000493163 human ensembl 69_37n +1 known rna NULL NULL 0.641 - - - no_errors TLE4 HGNC ENSG00000106829 10 0 0.00 8 5 38.46 - - - TPTEP1 0 genome.wustl.edu 37 22 17128089 17128089 + RNA SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 22 17128089 17128089 G A SNP TPTEP1 ENST00000400593 human ensembl 69_37n +1 known rna NULL NULL 0.054 - - - no_errors TPTEP1 HGNC ENSG00000100181 87 0 0.00 73 10 11.90 - - - TRBV24-1 0 genome.wustl.edu 37 7 142364557 142364557 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 7 142364557 142364557 G T SNP TRBV24-1 ENST00000390397 human ensembl 69_37n +1 known missense c.192 p.L64F 0.075 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon TRBV24-1 HGNC ENSG00000211750 67 0 0.00 43 5 10.42 - - - TRIM49C 0 genome.wustl.edu 37 11 89768577 89768577 + Silent SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 11 89768577 89768577 C T SNP TRIM49C ENST00000448984 human ensembl 69_37n +1 known silent c.198 p.T66 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49C HGNC ENSG00000204449 64 0 0.00 54 7 11.48 - - - TRNT1 0 genome.wustl.edu 37 3 3189187 3189187 + Missense_Mutation SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 3 3189187 3189187 G A SNP TRNT1 ENST00000251607 human ensembl 69_37n +1 known missense c.856 p.D286N 0.987 NULL pfam_PolA_pol_head_dom - no_errors TRNT1 HGNC ENSG00000072756 22 0 0.00 18 4 18.18 - - - TSSK2 0 genome.wustl.edu 37 22 19119656 19119656 + Silent SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 22 19119656 19119656 C T SNP TSSK2 ENST00000399635 human ensembl 69_37n +1 known silent c.744 p.L248 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK2 HGNC ENSG00000206203 26 0 0.00 26 4 13.33 - - - TTC22 0 genome.wustl.edu 37 1 55250479 55250479 + Missense_Mutation SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 55250479 55250479 C T SNP TTC22 ENST00000448308 human ensembl 69_37n -1 putative missense c.434 p.R145Q 0.001 NULL NULL - no_start_codon TTC22 HGNC ENSG00000006555 46 0 0.00 45 5 10.00 - - - UROD 0 genome.wustl.edu 37 1 45480407 45480407 + Splice_Site SNP G G C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 45480407 45480407 G C SNP UROD ENST00000246337 human ensembl 69_37n +1 known splice_site c.775-1 e8-1 1.000 - - - no_errors UROD HGNC ENSG00000126088 10 0 0 9 4 30.77 - - - UROD 0 genome.wustl.edu 37 1 45480407 45480407 + Splice_Site SNP G G C TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 45480407 45480407 G C SNP UROD ENST00000246337 human ensembl 69_37n +1 known splice_site c.775-1 e8-1 1.000 - - - no_errors UROD HGNC ENSG00000126088 10 0 0.00 9 4 30.77 - - - USH2A 0 genome.wustl.edu 37 1 215901420 215901420 + Silent SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 215901420 215901420 G T SNP USH2A ENST00000366943 human ensembl 69_37n -1 known silent c.12018 p.P4006 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 41 0 0.00 42 5 10.64 - - - USP48 0 genome.wustl.edu 37 1 22032270 22032270 + Silent SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 1 22032270 22032270 G A SNP USP48 ENST00000308271 human ensembl 69_37n -1 known silent c.2334 p.H778 0.852 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 42 0 0.00 34 4 10.53 - - - UTP14A 0 genome.wustl.edu 37 X 129055208 129055208 + Silent SNP A A G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d X 129055208 129055208 A G SNP UTP14A ENST00000394422 human ensembl 69_37n +1 known silent c.993 p.K331 1.000 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 45 0 0.00 36 6 14.29 - - - WISP2 0 genome.wustl.edu 37 20 43356156 43356156 + RNA SNP C C T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 20 43356156 43356156 C T SNP WISP2 ENST00000471629 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors WISP2 HGNC ENSG00000064205 42 0 0.00 49 9 15.25 - - - ZC3H12D 0 genome.wustl.edu 37 6 149782908 149782908 + RNA SNP A A G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 6 149782908 149782908 A G SNP ZC3H12D ENST00000462655 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ZC3H12D HGNC ENSG00000178199 40 0 0.00 54 6 10.00 - - - ZNF37BP 0 genome.wustl.edu 37 10 43046109 43046109 + RNA SNP T T G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 10 43046109 43046109 T G SNP ZNF37BP ENST00000473592 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors ZNF37BP HGNC ENSG00000234420 8 0 0.00 2 5 71.43 - - - ZNF48 0 genome.wustl.edu 37 16 30409062 30409062 + Missense_Mutation SNP G G A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 16 30409062 30409062 G A SNP ZNF48 ENST00000320159 human ensembl 69_37n +1 known missense c.491 p.G164E 0.958 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 37 0 0.00 28 7 20.00 - - - ZNF487P 0 genome.wustl.edu 37 10 43978087 43978087 + Silent SNP A A G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 10 43978087 43978087 A G SNP ZNF487P ENST00000431662 human ensembl 69_37n +1 known silent c.1002 p.R334 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF487P HGNC ENSG00000243660 14 0 0.00 19 5 20.83 - - - ZNF518B 0 genome.wustl.edu 37 4 10446457 10446457 + Missense_Mutation SNP C C G TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 4 10446457 10446457 C G SNP ZNF518B ENST00000326756 human ensembl 69_37n -1 known missense c.1496 p.G499A 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 26 0 0.00 17 3 15.00 - - - ZNF574 0 genome.wustl.edu 37 19 42584206 42584206 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 19 42584206 42584206 G T SNP ZNF574 ENST00000222339 human ensembl 69_37n +1 known missense c.1718 p.R573L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 24 0 0.00 26 4 12.90 - - - ZNF776 0 genome.wustl.edu 37 19 58265037 58265037 + Missense_Mutation SNP T T A TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 69990efb-cbdc-4364-b4c0-53a3a921b3ec 40c00f60-3ff1-4cb7-a1ed-657bab88f84d 19 58265037 58265037 T A SNP ZNF776 ENST00000317178 human ensembl 69_37n +1 known missense c.539 p.L180H 0.001 NULL 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 ZNF776 HGNC ENSG00000152443 27 0 0.00 35 7 16.67 - - -