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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AACSP1 0 genome.wustl.edu 37 5 178201530 178201530 + RNA SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 5 178201530 178201530 C T SNP AACSP1 ENST00000503486 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AACSP1 HGNC ENSG00000250420 tier1 - - 16 0 0.00 14 5 26.32 ABCC3 0 genome.wustl.edu 37 17 48745338 48745338 + Missense_Mutation SNP A A G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 17 48745338 48745338 A G SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known missense c.1750 p.M584V 0.893 superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 tier1 - - 22 0 0.00 16 15 48.39 ACACA 0 genome.wustl.edu 37 17 35567390 35567390 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 17 35567390 35567390 G A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.3698 p.T1233M 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 tier1 - - 41 0 0.00 27 25 48.08 ADCY1 0 genome.wustl.edu 37 7 45614663 45614664 + Frame_Shift_Ins INS - - T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 45614663 45614664 - T INS ADCY1 ENST00000297323 human ensembl 74_37 +1 known frame_shift_ins c.521_522 p.A175fs 1.000:0.998 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 tier1 38 0 0.00 57 19 25.00 AGPAT9 0 genome.wustl.edu 37 4 84457661 84457661 + RNA SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 4 84457661 84457661 G A SNP AGPAT9 ENST00000506766 human ensembl 74_37 +1 putative rna NULL NULL 0.629 - - - no_errors AGPAT9 HGNC ENSG00000138678 tier1 - - 17 0 0.00 4 13 76.47 AHNAK 0 genome.wustl.edu 37 11 62292799 62292799 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 11 62292799 62292799 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.9090 p.F3030 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 98 0 0.00 84 27 24.32 AJUBA 0 genome.wustl.edu 37 14 23450545 23450545 + Nonsense_Mutation SNP C C A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 14 23450545 23450545 C A SNP AJUBA ENST00000262713 human ensembl 74_37 -1 known nonsense c.931 p.E311* 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors AJUBA HGNC ENSG00000129474 tier1 - - 11 0 0.00 2 14 87.50 AKAP13 0 genome.wustl.edu 37 15 86076844 86076844 + Missense_Mutation SNP C C A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 15 86076844 86076844 C A SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.211 p.Q71K 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 - - 71 0 0.00 42 15 26.32 ALG1 0 genome.wustl.edu 37 16 5129756 5129756 + Silent SNP A A G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 16 5129756 5129756 A G SNP ALG1 ENST00000262374 human ensembl 74_37 +1 known silent c.909 p.E303 0.355 pfam_Glyco_trans_1 pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 47 0 0.00 56 6 9.38 ALPK2 0 genome.wustl.edu 37 18 56247529 56247529 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 18 56247529 56247529 G A SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.479 p.S160L 0.001 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 tier1 - - 106 0 0.00 81 39 32.50 ANO5 0 genome.wustl.edu 37 11 22294478 22294478 + Silent SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 11 22294478 22294478 C T SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known silent c.2178 p.S726 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 tier1 - - 48 0 0.00 41 13 24.07 ARID4A 0 genome.wustl.edu 37 14 58831580 58831580 + Silent SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 14 58831580 58831580 C T SNP ARID4A ENST00000355431 human ensembl 74_37 +1 known silent c.2773 p.L925 0.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 tier1 - - 22 0 0.00 3 15 83.33 ARL5A 0 genome.wustl.edu 37 2 152684695 152684695 + RNA SNP G G C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 2 152684695 152684695 G C SNP ARL5A ENST00000487723 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors ARL5A HGNC ENSG00000162980 tier1 - - 23 0 0.00 38 32 45.71 BNIP2 0 genome.wustl.edu 37 15 59956127 59956127 + RNA SNP T T C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 15 59956127 59956127 T C SNP BNIP2 ENST00000478981 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors BNIP2 HGNC ENSG00000140299 tier1 - - 24 0 0.00 13 14 51.85 BRAF 0 genome.wustl.edu 37 7 140501216 140501216 + Missense_Mutation SNP G G C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 140501216 140501216 G C SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.856 p.L286V 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 tier1 - - 27 0 0.00 23 17 42.50 BTN1A1 0 genome.wustl.edu 37 6 26505212 26505212 + Nonsense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 6 26505212 26505212 G T SNP BTN1A1 ENST00000244513 human ensembl 74_37 +1 known nonsense c.487 p.E163* 0.980 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 25 0 0.00 20 2 9.09 C2CD3 0 genome.wustl.edu 37 11 73796763 73796763 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 11 73796763 73796763 G T SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.3810 p.N1270K 0.946 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 23 0 0.00 31 4 11.11 CAD 0 genome.wustl.edu 37 2 27456369 27456369 + Missense_Mutation SNP A A T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 2 27456369 27456369 A T SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.3181 p.S1061C 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 tier1 - - 25 0 0.00 31 10 24.39 CALCB 0 genome.wustl.edu 37 11 15096326 15096326 + Missense_Mutation SNP G G C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 11 15096326 15096326 G C SNP CALCB ENST00000324229 human ensembl 74_37 +1 known missense c.62 p.G21A 1.000 pfam_Procalcitonin/adrenomedullin pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep - no_errors CALCB HGNC ENSG00000175868 tier1 - - 37 0 0.00 29 15 34.09 CATSPER2 0 genome.wustl.edu 37 15 43931876 43931876 + Nonsense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 15 43931876 43931876 G A SNP CATSPER2 ENST00000321596 human ensembl 74_37 -1 known nonsense c.682 p.Q228* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 tier1 - - 41 0 0.00 29 9 23.68 CCDC155 0 genome.wustl.edu 37 19 49910924 49910924 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 19 49910924 49910924 C T SNP CCDC155 ENST00000447857 human ensembl 74_37 +1 known missense c.989 p.T330M 0.282 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 tier1 - - 29 0 0.00 35 12 25.53 CCT6P3 0 genome.wustl.edu 37 7 64530858 64530858 + RNA SNP T T C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 64530858 64530858 T C SNP CCT6P3 ENST00000426828 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CCT6P3 HGNC ENSG00000234585 tier1 - - 59 0 0.00 61 44 41.90 CDC73 0 genome.wustl.edu 37 1 193107230 193107230 + Missense_Mutation SNP C C A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 193107230 193107230 C A SNP CDC73 ENST00000367435 human ensembl 74_37 +1 known missense c.439 p.R147S 1.000 NULL pfam_RNA_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 21 0 0.00 33 2 5.71 CEACAM18 0 genome.wustl.edu 37 19 51981881 51981881 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 19 51981881 51981881 G A SNP CEACAM18 ENST00000451626 human ensembl 74_37 +1 known silent c.168 p.E56 0.002 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM18 HGNC ENSG00000213822 tier1 - - 30 0 0.00 24 26 52.00 CELF2 0 genome.wustl.edu 37 10 11299729 11299729 + Silent SNP A A C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 10 11299729 11299729 A C SNP CELF2 ENST00000450189 human ensembl 74_37 +1 known silent c.432 p.G144 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 tier1 - - 45 0 0.00 32 17 34.69 CELSR3 0 genome.wustl.edu 37 3 48684260 48684260 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 48684260 48684260 G T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.7246 p.L2416I 0.993 pfam_DUF3497 pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 23 0 0.00 38 2 5.00 CHD7 0 genome.wustl.edu 37 8 61765096 61765096 + Silent SNP A A T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 8 61765096 61765096 A T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.5934 p.V1978 0.074 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,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 CHD7 HGNC ENSG00000171316 tier1 - - 21 0 0.00 15 19 54.29 CHDC2 0 genome.wustl.edu 37 X 36117945 36117945 + Missense_Mutation SNP T T G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 X 36117945 36117945 T G SNP CHDC2 ENST00000313548 human ensembl 74_37 +1 known missense c.801 p.F267L 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CHDC2 HGNC ENSG00000176034 tier1 - - 23 0 0.00 3 21 87.50 CHRM2 0 genome.wustl.edu 37 7 136700063 136700063 + Missense_Mutation SNP T T A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 136700063 136700063 T A SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.451 p.S151T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 tier1 - - 20 0 0.00 22 7 24.14 CIITA 0 genome.wustl.edu 37 16 11001871 11001871 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 16 11001871 11001871 C T SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.2522 p.T841M 0.109 prints_MHC_II_transact superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 tier1 - - 41 0 0.00 51 15 22.73 CNTNAP5 0 genome.wustl.edu 37 2 124999946 124999946 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 2 124999946 124999946 G T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.357 p.Q119H 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 28 0 0.00 54 4 6.90 CSMD3 0 genome.wustl.edu 37 8 113277651 113277651 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 8 113277651 113277651 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9677 p.P3226Q 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 23 0 0.00 73 4 5.19 CSPG4 0 genome.wustl.edu 37 15 75981216 75981216 + Silent SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 15 75981216 75981216 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known silent c.2190 p.A730 0.378 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 - - 46 0 0.00 81 6 6.90 CYP2C9 0 genome.wustl.edu 37 10 96702021 96702021 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 10 96702021 96702021 G T SNP CYP2C9 ENST00000260682 human ensembl 74_37 +1 known missense c.404 p.G135V 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C9 HGNC ENSG00000138109 tier1 - - 84 0 0.00 70 20 22.22 DCAF12 0 genome.wustl.edu 37 9 34093300 34093300 + Silent SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 9 34093300 34093300 G T SNP DCAF12 ENST00000361264 human ensembl 74_37 -1 known silent c.1008 p.S336 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12 HGNC ENSG00000198876 tier1 - - 57 0 0.00 50 19 27.54 DCAF12 0 genome.wustl.edu 37 9 34093301 34093301 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 9 34093301 34093301 G A SNP DCAF12 ENST00000361264 human ensembl 74_37 -1 known missense c.1007 p.S336F 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12 HGNC ENSG00000198876 tier1 - - 58 0 0.00 50 19 27.54 DCAF4L2 0 genome.wustl.edu 37 8 88885726 88885726 + Silent SNP C C G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 8 88885726 88885726 C G SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known silent c.474 p.L158 0.913 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 tier1 - - 28 0 0.00 25 20 44.44 DGKI 0 genome.wustl.edu 37 7 137374664 137374664 + Silent SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 137374664 137374664 C T SNP DGKI ENST00000288490 human ensembl 74_37 -1 known silent c.486 p.E162 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 tier1 - - 12 0 0.00 26 6 18.75 DMRT2 0 genome.wustl.edu 37 9 1056731 1056731 + Missense_Mutation SNP C C G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 9 1056731 1056731 C G SNP DMRT2 ENST00000302441 human ensembl 74_37 +1 known missense c.1144 p.R382G 0.193 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT2 HGNC ENSG00000173253 tier1 - - 27 0 0.00 33 15 31.25 DRD2 0 genome.wustl.edu 37 11 113283425 113283425 + Missense_Mutation SNP C C G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 11 113283425 113283425 C G SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known missense c.997 p.A333P 0.970 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 tier1 - - 110 0 0.00 123 49 28.49 DVL1 0 genome.wustl.edu 37 1 1275451 1275451 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 1275451 1275451 G A SNP DVL1 ENST00000378888 human ensembl 74_37 -1 known silent c.876 p.D292 0.581 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam - no_errors DVL1 HGNC ENSG00000107404 tier1 - - 17 0 0.00 14 13 48.15 ENSG00000173213 0 genome.wustl.edu 37 18 49944 49945 + RNA INS - - ATGAC TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 18 49944 49945 0 ATGAC INS ENSG00000173213 ENST00000575325 human ensembl 74_37 -1 known rna NULL NULL 0.031:0.027 - - - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 10 0 0.00 11 5 31.25 ENSG00000229180 0 genome.wustl.edu 37 7 66006407 66006407 + RNA SNP T T A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 66006407 66006407 T A SNP ENSG00000229180 ENST00000449307 human ensembl 74_37 -1 known rna NULL NULL 0.122 - - - no_errors GS1-124K5.11 Clone_based_vega_gene ENSG00000229180 tier1 - - 33 0 0.00 37 34 47.89 ENSG00000233368 0 genome.wustl.edu 37 1 149576754 149576754 + RNA SNP T T A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 149576754 149576754 T A SNP ENSG00000233368 ENST00000447883 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors RP11-277L2.3 Clone_based_vega_gene ENSG00000233368 tier1 - - 52 0 0.00 44 67 60.36 ENSG00000259198 0 genome.wustl.edu 37 15 40605342 40605342 + RNA SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 15 40605342 40605342 G A SNP ENSG00000259198 ENST00000559030 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-133K1.6 Clone_based_vega_gene ENSG00000259198 tier1 - - 21 0 0.00 11 13 54.17 EPHA10 0 genome.wustl.edu 37 1 38185713 38185713 + Silent SNP C C A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 38185713 38185713 C A SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known silent c.2430 p.A810 0.331 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 tier1 - - 27 0 0.00 18 6 25.00 EPM2AIP1 0 genome.wustl.edu 37 3 37033713 37033713 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 37033713 37033713 G A SNP EPM2AIP1 ENST00000322716 human ensembl 74_37 -1 known silent c.856 p.L286 0.592 NULL NULL - no_errors EPM2AIP1 HGNC ENSG00000178567 tier1 - - 25 0 0.00 9 3 25.00 EPPIN-WFDC6 0 genome.wustl.edu 37 20 44174309 44174309 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 20 44174309 44174309 G T SNP EPPIN-WFDC6 ENST00000504988 human ensembl 74_37 -1 known missense c.192 p.S64R 1.000 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core pfam_Prot_inh_Kunz-m,pfam_WAP-type_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors EPPIN-WFDC6 HGNC ENSG00000249139 tier1 - - 55 0 0.00 62 4 6.06 ESPNL 0 genome.wustl.edu 37 2 239040155 239040155 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 2 239040155 239040155 G A SNP ESPNL ENST00000343063 human ensembl 74_37 +1 known missense c.2800 p.A934T 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 tier1 - - 11 0 0.00 8 5 38.46 ETV3 0 genome.wustl.edu 37 1 157094737 157094737 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 157094737 157094737 G A SNP ETV3 ENST00000368192 human ensembl 74_37 -1 known missense c.1435 p.R479C 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV3 HGNC ENSG00000117036 tier1 - - 28 0 0.00 40 9 18.37 FAM135B 0 genome.wustl.edu 37 8 139209800 139209800 + Missense_Mutation SNP A A T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 8 139209800 139209800 A T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.782 p.V261E 0.070 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 24 0 0.00 22 10 31.25 FAM135B 0 genome.wustl.edu 37 8 139268978 139268978 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 8 139268978 139268978 C T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.322 p.D108N 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 18 0 0.00 13 15 53.57 FAM182B 0 genome.wustl.edu 37 20 25755562 25755562 + Missense_Mutation SNP A A C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 20 25755562 25755562 A C SNP FAM182B ENST00000376403 human ensembl 74_37 -1 putative missense c.394 p.W132G 0.150 NULL NULL - no_errors FAM182B HGNC ENSG00000175170 48 0 0.00 95 7 6.80 FAM208A 0 genome.wustl.edu 37 3 56703746 56703746 + Silent SNP A A C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 56703746 56703746 A C SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known silent c.717 p.V239 1.000 pfam_DUF3715 pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 31 0 0.00 21 3 12.50 FAM71F1 0 genome.wustl.edu 37 7 128370053 128370053 + Silent SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 128370053 128370053 C T SNP FAM71F1 ENST00000315184 human ensembl 74_37 +1 known silent c.951 p.S317 0.422 NULL pfam_DUF3699 - no_errors FAM71F1 HGNC ENSG00000135248 tier1 - - 18 0 0.00 38 28 42.42 FBXL22 0 genome.wustl.edu 37 15 63889686 63889686 + Missense_Mutation SNP T T C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 15 63889686 63889686 T C SNP FBXL22 ENST00000360587 human ensembl 74_37 +1 known missense c.95 p.L32P 0.998 superfamily_F-box_dom superfamily_F-box_dom - no_errors FBXL22 HGNC ENSG00000197361 tier1 - - 29 0 0.00 17 15 46.88 FGF12 0 genome.wustl.edu 37 3 192445098 192445098 + RNA SNP T T G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 192445098 192445098 T G SNP FGF12 ENST00000466144 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors FGF12 HGNC ENSG00000114279 tier1 - - 29 0 0.00 34 22 39.29 FLCN 0 genome.wustl.edu 37 17 17122347 17122347 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 17 17122347 17122347 G A SNP FLCN ENST00000285071 human ensembl 74_37 -1 known missense c.1048 p.R350W 0.988 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 tier1 - - 34 0 0.00 67 23 25.56 FLG 0 genome.wustl.edu 37 1 152283351 152283351 + Silent SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 152283351 152283351 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.4011 p.S1337 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 121 0 0.00 246 59 19.34 FLI1 0 genome.wustl.edu 37 11 128651913 128651913 + Missense_Mutation SNP A A C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 11 128651913 128651913 A C SNP FLI1 ENST00000527786 human ensembl 74_37 +1 known missense c.650 p.K217T 1.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors FLI1 HGNC ENSG00000151702 tier1 - - 53 0 0.00 45 8 15.09 FLNA 0 genome.wustl.edu 37 X 153590885 153590885 + Silent SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 X 153590885 153590885 G T SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.2466 p.I822 0.155 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 tier1 - - 42 0 0.00 59 43 42.16 FNDC3A 0 genome.wustl.edu 37 13 49762729 49762729 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 13 49762729 49762729 G A SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known missense c.1904 p.R635H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 tier1 - - 61 0 0.00 38 45 54.22 FSIP2 0 genome.wustl.edu 37 2 186604132 186604132 + Silent SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 2 186604132 186604132 C T SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.426 p.L142 0.883 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 27 0 0.00 26 4 13.33 GBP2 0 genome.wustl.edu 37 1 89585810 89585810 + RNA SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 89585810 89585810 G T SNP GBP2 ENST00000463660 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GBP2 HGNC ENSG00000162645 tier1 - - 45 0 0.00 28 14 33.33 GIF 0 genome.wustl.edu 37 11 59612870 59612870 + Missense_Mutation SNP A A T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 11 59612870 59612870 A T SNP GIF ENST00000257248 human ensembl 74_37 -1 known missense c.57 p.S19R 0.000 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors GIF HGNC ENSG00000134812 tier1 - - 25 0 0.00 22 7 23.33 H2AFY 0 genome.wustl.edu 37 5 134705831 134705831 + Silent SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 5 134705831 134705831 C T SNP H2AFY ENST00000511689 human ensembl 74_37 -1 known silent c.174 p.A58 0.988 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,pirsf_Core_histone_macro-H2A,prints_Histone_H2A pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,prints_Histone_H2A,pfscan_Macro_dom - no_errors H2AFY HGNC ENSG00000113648 tier1 rs141756450 - 30 0 0.00 20 13 39.39 HLA-DQB2 0 genome.wustl.edu 37 6 32725642 32725642 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 6 32725642 32725642 G A SNP HLA-DQB2 ENST00000435145 human ensembl 74_37 -1 known missense c.665 p.A222V 1.000 NULL pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQB2 HGNC ENSG00000232629 tier1 - - 35 0 0.00 31 26 45.61 HOXB5 0 genome.wustl.edu 37 17 46670668 46670668 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 17 46670668 46670668 G A SNP HOXB5 ENST00000239151 human ensembl 74_37 -1 known missense c.377 p.S126F 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB5 HGNC ENSG00000120075 tier1 - - 64 0 0.00 73 45 38.14 HUWE1 0 genome.wustl.edu 37 X 53641613 53641613 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 X 53641613 53641613 G T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.2143 p.P715T 1.000 pfam_E3_Ub_ligase_DUF913 pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 23 0 0.00 21 5 19.23 IFT122 0 genome.wustl.edu 37 3 129195555 129195555 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 129195555 129195555 G T SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.1211 p.S404I 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 tier1 - - 26 0 0.00 31 6 16.22 JAG2 0 genome.wustl.edu 37 14 105609908 105609908 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 14 105609908 105609908 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.3152 p.A1051V 0.372 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 tier1 - - 42 0 0.00 32 16 33.33 KDR 0 genome.wustl.edu 37 4 55981097 55981097 + Missense_Mutation SNP T T A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 4 55981097 55981097 T A SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.602 p.E201V 1.000 smart_Ig_sub pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 tier1 - - 22 0 0.00 8 5 38.46 KIAA1324L 0 genome.wustl.edu 37 7 86556124 86556124 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 86556124 86556124 G T SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.1198 p.P400T 1.000 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 tier1 - - 27 0 0.00 37 29 43.94 KIAA1549 0 genome.wustl.edu 37 7 138552846 138552846 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 138552846 138552846 G A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.4804 p.R1602C 0.996 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 29 0 0.00 44 16 26.67 KMT2C 0 genome.wustl.edu 37 7 151878713 151878713 + Missense_Mutation SNP T T C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 151878713 151878713 T C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.6232 p.T2078A 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 29 0 0.00 48 10 17.24 KRT8 0 genome.wustl.edu 37 12 53298675 53298675 + Missense_Mutation SNP A A C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 12 53298675 53298675 A C SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.91 p.S31A 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 28 0 0.00 30 4 11.76 LAMP2 0 genome.wustl.edu 37 X 119589255 119589255 + Nonsense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 X 119589255 119589255 G T SNP LAMP2 ENST00000434600 human ensembl 74_37 -1 known nonsense c.354 p.Y118* 0.984 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP2 HGNC ENSG00000005893 tier1 - - 42 0 0.00 39 4 9.30 LOC101927256 0 genome.wustl.edu 37 7 2983806 2983806 + RNA SNP C C A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 2983806 2983806 C A SNP LOC101927256 ENST00000423194 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors AC004906.3 Clone_based_vega_gene ENSG00000237286 tier1 - - 20 0 0.00 18 4 18.18 LOC441666 0 genome.wustl.edu 37 10 42832981 42832981 + RNA SNP G G C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 10 42832981 42832981 G C SNP LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 0.276 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 - - 43 0 0.00 21 22 51.16 LRP12 0 genome.wustl.edu 37 8 105509215 105509215 + Missense_Mutation SNP C C G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 8 105509215 105509215 C G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1508 p.R503T 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 24 0 0.00 30 27 47.37 LRRC23 0 genome.wustl.edu 37 12 7016543 7016543 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 12 7016543 7016543 G A SNP LRRC23 ENST00000007969 human ensembl 74_37 +1 known silent c.555 p.E185 1.000 NULL pfam_Leu-rich_rpt - no_errors LRRC23 HGNC ENSG00000010626 tier1 - - 30 0 0.00 66 18 21.43 MAMDC4 0 genome.wustl.edu 37 9 139749014 139749017 + Frame_Shift_Del DEL GAGA GAGA - TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 GAGA GAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 9 139749014 139749017 GAGA - DEL MAMDC4 ENST00000445819 human ensembl 74_37 +1 known frame_shift_del c.820_823 p.E274fs 0.967:0.954:0.901:0.177 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 tier1 18 0 0.00 12 5 29.41 MAML2 0 genome.wustl.edu 37 11 96074769 96074769 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 11 96074769 96074769 G A SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known silent c.291 p.A97 0.010 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 tier1 - - 31 0 0.00 22 29 56.86 MAP1B 0 genome.wustl.edu 37 5 71493714 71493714 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 5 71493714 71493714 G T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.4532 p.G1511V 0.992 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 31 0 0.00 33 4 10.81 MBTPS2 0 genome.wustl.edu 37 X 21896254 21896254 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 X 21896254 21896254 G T SNP MBTPS2 ENST00000379484 human ensembl 74_37 +1 known missense c.1065 p.L355F 1.000 pfam_Peptidase_M50 pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2 - no_errors MBTPS2 HGNC ENSG00000012174 tier1 - - 28 0 0.00 33 4 10.81 MCF2L2 0 genome.wustl.edu 37 3 182948802 182948802 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 182948802 182948802 G A SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known silent c.1866 p.R622 0.031 superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 tier1 - - 20 0 0.00 30 6 16.67 MEP1A 0 genome.wustl.edu 37 6 46787380 46787380 + Silent SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 6 46787380 46787380 C T SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known silent c.495 p.H165 0.948 pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 tier1 - - 49 0 0.00 14 62 81.58 METTL11B 0 genome.wustl.edu 37 1 170136782 170136782 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 170136782 170136782 C T SNP METTL11B ENST00000439373 human ensembl 74_37 +1 known missense c.736 p.R246W 0.237 pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pirsf_DUF858_MeTrfase_lik - no_errors METTL11B HGNC ENSG00000203740 tier1 - - 42 0 0.00 56 11 16.42 MIR3672 0 genome.wustl.edu 37 X 120504889 120504889 + RNA SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 X 120504889 120504889 C T SNP MIR3672 ENST00000584290 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors MIR3672 HGNC ENSG00000265456 tier1 - - 8 0 0.00 7 4 36.36 MLXIPL 0 genome.wustl.edu 37 7 73013902 73013902 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 73013902 73013902 G A SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known missense c.1025 p.P342L 0.002 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 tier1 - - 20 0 0.00 32 20 37.74 MLXIPL 0 genome.wustl.edu 37 7 73013937 73013937 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 73013937 73013937 G A SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known silent c.990 p.L330 0.661 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 19 0 0.00 16 23 57.50 MPPED2 0 genome.wustl.edu 37 11 30439152 30439152 + Missense_Mutation SNP T T C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 11 30439152 30439152 T C SNP MPPED2 ENST00000358117 human ensembl 74_37 -1 known missense c.565 p.N189D 1.000 pfam_PEstase_dom pfam_PEstase_dom - no_errors MPPED2 HGNC ENSG00000066382 tier1 - - 26 0 0.00 18 6 25.00 MSH6 0 genome.wustl.edu 37 2 48033609 48033609 + Missense_Mutation SNP G G C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 2 48033609 48033609 G C SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.3820 p.E1274Q 1.000 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 tier1 - - 28 0 0.00 9 14 60.87 MTG1 0 genome.wustl.edu 37 10 135212714 135212714 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 10 135212714 135212714 G T SNP MTG1 ENST00000317502 human ensembl 74_37 +1 known missense c.404 p.R135L 1.000 superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF - no_errors MTG1 HGNC ENSG00000148824 42 0 0.00 53 3 5.36 MUC4 0 genome.wustl.edu 37 3 195510962 195510962 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 195510962 195510962 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.7489 p.L2497F 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 377 0 0.00 562 78 12.15 MUC4 0 genome.wustl.edu 37 3 195510227 195510228 + Frame_Shift_Ins INS - - G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 195510227 195510228 0 G INS MUC4 ENST00000463781 human ensembl 74_37 -1 known frame_shift_ins c.8224_8223 p.T2741fs 0.000:0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 67 0 0.00 97 10 9.35 MYH11 0 genome.wustl.edu 37 16 15835388 15835388 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 16 15835388 15835388 G A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known silent c.2812 p.L938 0.997 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 tier1 - - 26 0 0.00 14 23 62.16 MYLK 0 genome.wustl.edu 37 3 123368043 123368044 + Splice_Site INS - - G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 123368043 123368044 - G INS MYLK ENST00000360304 human ensembl 74_37 -1 known splice_site_ins c.4289-3_4289-2 e22-2 0.975:0.100 - - - no_errors MYLK HGNC ENSG00000065534 tier1 12 0 0.00 18 6 25.00 MYO3A 0 genome.wustl.edu 37 10 26417469 26417469 + Splice_Site SNP T T A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 10 26417469 26417469 T A SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known splice_site c.2262+2 e18+2 1.000 - - - no_errors MYO3A HGNC ENSG00000095777 tier1 - - 26 0 0.00 2 32 94.12 NDUFA10 0 genome.wustl.edu 37 2 240954203 240954203 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 2 240954203 240954203 C T SNP NDUFA10 ENST00000252711 human ensembl 74_37 -1 known missense c.622 p.D208N 0.997 pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su - no_errors NDUFA10 HGNC ENSG00000130414 14 0 0.00 23 2 8.00 NEDD4L 0 genome.wustl.edu 37 18 55996356 55996356 + Silent SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 18 55996356 55996356 C T SNP NEDD4L ENST00000400345 human ensembl 74_37 +1 known silent c.810 p.P270 0.066 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 tier1 - - 10 0 0.00 5 5 50.00 NFE2L2 0 genome.wustl.edu 37 2 178098909 178098909 + Missense_Mutation SNP A A G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 2 178098909 178098909 A G SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.136 p.Y46H 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 66 0 0.00 47 13 21.67 NFE2L2 0 genome.wustl.edu 37 2 178098912 178098912 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 2 178098912 178098912 C T SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.133 p.E45K 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 65 0 0.00 47 4 7.84 NINL 0 genome.wustl.edu 37 20 25462723 25462723 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 20 25462723 25462723 C T SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.1691 p.R564H 0.007 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 tier1 - - 48 0 0.00 82 26 24.07 NPBWR2 0 genome.wustl.edu 37 20 62737818 62737818 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 20 62737818 62737818 C T SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.367 p.V123I 0.164 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 tier1 - - 38 0 0.00 37 19 33.93 NRROS 0 genome.wustl.edu 37 3 196387351 196387351 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 196387351 196387351 G A SNP NRROS ENST00000328557 human ensembl 74_37 +1 known silent c.837 p.L279 0.024 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 tier1 - - 37 0 0.00 23 28 54.90 NUDT10 0 genome.wustl.edu 37 X 51076024 51076024 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 X 51076024 51076024 G A SNP NUDT10 ENST00000356450 human ensembl 74_37 +1 known silent c.207 p.E69 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC ENSG00000122824 30 0 0.00 32 4 11.11 OR14K1 0 genome.wustl.edu 37 1 247902646 247902646 + Missense_Mutation SNP A A G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 247902646 247902646 A G SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.730 p.I244V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14K1 HGNC ENSG00000153230 tier1 - - 40 0 0.00 47 8 14.55 OR2C3 0 genome.wustl.edu 37 1 247695347 247695347 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 247695347 247695347 G T SNP OR2C3 ENST00000366487 human ensembl 74_37 -1 known missense c.467 p.T156N 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C3 HGNC ENSG00000196242 25 0 0.00 29 2 6.45 OR52N5 0 genome.wustl.edu 37 11 5799447 5799447 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 11 5799447 5799447 G A SNP OR52N5 ENST00000317093 human ensembl 74_37 -1 known missense c.418 p.R140C 0.861 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N5 HGNC ENSG00000181009 tier1 - - 25 0 0.00 16 8 33.33 OR5H6 0 genome.wustl.edu 37 3 97983602 97983602 + Silent SNP T T C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 97983602 97983602 T C SNP OR5H6 ENST00000383696 human ensembl 74_37 +1 known silent c.474 p.I158 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H6 HGNC ENSG00000230301 tier1 rs75354046 - 57 0 0.00 73 7 8.64 OR8D4 0 genome.wustl.edu 37 11 123777707 123777707 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 11 123777707 123777707 C T SNP OR8D4 ENST00000321355 human ensembl 74_37 +1 known missense c.569 p.S190F 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 38 0 0.00 24 3 11.11 OR9A4 0 genome.wustl.edu 37 7 141619217 141619217 + Missense_Mutation SNP G G C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 141619217 141619217 G C SNP OR9A4 ENST00000548136 human ensembl 74_37 +1 known missense c.542 p.R181P 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9A4 HGNC ENSG00000258083 tier1 - - 27 0 0.00 34 5 12.82 PDCD4 0 genome.wustl.edu 37 10 112650500 112650500 + RNA SNP C C G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 10 112650500 112650500 C G SNP PDCD4 ENST00000489049 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PDCD4 HGNC ENSG00000150593 tier1 - - 25 0 0.00 11 42 79.25 PENK 0 genome.wustl.edu 37 8 57358329 57358329 + Missense_Mutation SNP A A G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 8 57358329 57358329 A G SNP PENK ENST00000518770 human ensembl 74_37 -1 putative missense c.184 p.F62L 0.001 NULL pfam_Opioid_neupept,prints_Proenkphlin_A - no_errors PENK HGNC ENSG00000181195 tier1 - - 34 0 0.00 69 26 27.37 PFAS 0 genome.wustl.edu 37 17 8160282 8160282 + Splice_Site SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 17 8160282 8160282 G T SNP PFAS ENST00000314666 human ensembl 74_37 +1 known splice_site c.1075+1 e8+1 1.000 - - - no_errors PFAS HGNC ENSG00000178921 22 0 0.00 50 4 7.41 PI4K2B 0 genome.wustl.edu 37 4 25262150 25262150 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 4 25262150 25262150 G T SNP PI4K2B ENST00000264864 human ensembl 74_37 +1 known missense c.915 p.R305S 0.998 pfam_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom - no_errors PI4K2B HGNC ENSG00000038210 25 0 0.00 35 2 5.41 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 178952085 178952085 A T SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047L 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 rs121913279 - 19 0 0.00 10 12 54.55 PRDX1 0 genome.wustl.edu 37 1 45980307 45980307 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 45980307 45980307 C T SNP PRDX1 ENST00000262746 human ensembl 74_37 -1 known missense c.386 p.G129D 1.000 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX1 HGNC ENSG00000117450 tier1 - - 19 0 0.00 11 8 42.11 PRKCSH 0 genome.wustl.edu 37 19 11548711 11548711 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 19 11548711 11548711 C T SNP PRKCSH ENST00000252455 human ensembl 74_37 +1 known missense c.211 p.P71S 1.000 superfamily_LDrepeatLR_classA_rpt pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 tier1 - - 33 0 0.00 52 9 14.75 PSTK 0 genome.wustl.edu 37 10 124740046 124740046 + Missense_Mutation SNP A A T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 10 124740046 124740046 A T SNP PSTK ENST00000368887 human ensembl 74_37 +1 known missense c.51 p.K17N 0.001 superfamily_P-loop_NTPase pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,tigrfam_L-seryl-tRNA_Sec_kinase_euk - no_errors PSTK HGNC ENSG00000179988 tier1 - - 12 0 0.00 1 24 96.00 PTCH1 0 genome.wustl.edu 37 9 98231241 98231241 + Frame_Shift_Del DEL G G - TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 9 98231241 98231241 G - DEL PTCH1 ENST00000331920 human ensembl 74_37 -1 known frame_shift_del c.2042 p.P681fs 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 tier1 40 0 0.00 5 41 89.13 PTCH2 0 genome.wustl.edu 37 1 45294908 45294908 + Frame_Shift_Del DEL A A - TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 45294908 45294908 A - DEL PTCH2 ENST00000372192 human ensembl 74_37 -1 known frame_shift_del c.1292 p.L431fs 1.000 pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 tier1 25 0 0.00 13 6 31.58 RBBP5 0 genome.wustl.edu 37 1 205069382 205069382 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 205069382 205069382 G T SNP RBBP5 ENST00000264515 human ensembl 74_37 -1 known missense c.650 p.T217K 1.000 smart_WD40_repeat pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP5 HGNC ENSG00000117222 13 0 0.00 24 2 7.69 ROBO2 0 genome.wustl.edu 37 3 77681788 77681788 + Silent SNP A A C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 77681788 77681788 A C SNP ROBO2 ENST00000332191 human ensembl 74_37 +1 novel silent c.3924 p.G1308 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 34 0 0.00 7 15 68.18 RRS1 0 genome.wustl.edu 37 8 67342179 67342179 + Silent SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 8 67342179 67342179 G T SNP RRS1 ENST00000320270 human ensembl 74_37 +1 known silent c.813 p.L271 0.991 NULL pfam_Ribosom_reg - no_errors RRS1 HGNC ENSG00000179041 tier1 - - 15 0 0.00 20 17 45.95 RTN1 0 genome.wustl.edu 37 14 60212626 60212626 + Missense_Mutation SNP C C G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 14 60212626 60212626 C G SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.815 p.R272P 0.001 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 tier1 - - 37 0 0.00 16 26 60.47 SALL1 0 genome.wustl.edu 37 16 51173264 51173264 + Missense_Mutation SNP C C A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 16 51173264 51173264 C A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.2869 p.A957S 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 15 0 0.00 3 3 50.00 SAMD9L 0 genome.wustl.edu 37 7 92761326 92761326 + Missense_Mutation SNP C C A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 92761326 92761326 C A SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.3959 p.S1320I 0.001 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 tier1 - - 35 0 0.00 34 16 32.00 SCAND3 0 genome.wustl.edu 37 6 28543364 28543364 + Nonsense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 6 28543364 28543364 G T SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known nonsense c.1118 p.S373* 0.994 pfam_Integrase_cat-core,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 tier1 - - 63 0 0.00 80 5 5.88 SCN8A 0 genome.wustl.edu 37 12 52159718 52159718 + Missense_Mutation SNP G G C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 12 52159718 52159718 G C SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known missense c.2808 p.E936D 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 tier1 - - 105 0 0.00 59 48 44.86 SEC61A2 0 genome.wustl.edu 37 10 12209761 12209761 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 10 12209761 12209761 G A SNP SEC61A2 ENST00000475268 human ensembl 74_37 +1 known silent c.1254 p.A418 0.690 pirsf_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A2 HGNC ENSG00000065665 tier1 rs148632115 - 29 0 0.00 19 12 38.71 SEMA6C 0 genome.wustl.edu 37 1 151109548 151109548 + Silent SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 151109548 151109548 C T SNP SEMA6C ENST00000368913 human ensembl 74_37 -1 known silent c.759 p.V253 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6C HGNC ENSG00000143434 tier1 - - 31 0 0.00 49 18 26.87 SETDB2 0 genome.wustl.edu 37 13 50050669 50050669 + Missense_Mutation SNP A A T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 13 50050669 50050669 A T SNP SETDB2 ENST00000317257 human ensembl 74_37 +1 known missense c.399 p.E133D 0.051 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 tier1 - - 22 0 0.00 11 9 45.00 SFXN5 0 genome.wustl.edu 37 2 73247372 73247372 + Frame_Shift_Del DEL G G - TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 2 73247372 73247372 G - DEL SFXN5 ENST00000272433 human ensembl 74_37 -1 known frame_shift_del c.353 p.P118fs 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN5 HGNC ENSG00000144040 tier1 16 0 0.00 12 4 25.00 SLC16A5 0 genome.wustl.edu 37 17 73096277 73096277 + Silent SNP T T A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 17 73096277 73096277 T A SNP SLC16A5 ENST00000329783 human ensembl 74_37 +1 known silent c.519 p.L173 0.007 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 tier1 - - 48 0 0.00 55 22 28.57 SLC45A2 0 genome.wustl.edu 37 5 33984553 33984553 + Nonsense_Mutation SNP C C A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 5 33984553 33984553 C A SNP SLC45A2 ENST00000296589 human ensembl 74_37 -1 known nonsense c.136 p.E46* 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 tier1 - - 41 0 0.00 21 7 25.00 SLC6A16 0 genome.wustl.edu 37 19 49797779 49797779 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 19 49797779 49797779 G A SNP SLC6A16 ENST00000335875 human ensembl 74_37 -1 known silent c.1261 p.L421 0.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A16 HGNC ENSG00000063127 tier1 - - 68 0 0.00 73 10 11.90 SLC9C2 0 genome.wustl.edu 37 1 173556830 173556830 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 173556830 173556830 C T SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.497 p.R166H 0.021 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 tier1 - - 26 0 0.00 26 6 18.75 SLX4 0 genome.wustl.edu 37 16 3652151 3652151 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 16 3652151 3652151 C T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.918 p.M306I 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 tier1 - - 36 0 0.00 24 11 31.43 SPAG9 0 genome.wustl.edu 37 17 49091695 49091695 + Nonsense_Mutation SNP C C A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 17 49091695 49091695 C A SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known nonsense c.1111 p.E371* 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 tier1 - - 25 0 0.00 17 19 52.78 SPTA1 0 genome.wustl.edu 37 1 158612700 158612700 + Silent SNP T T C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 158612700 158612700 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.4509 p.K1503 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 36 0 0.00 21 32 60.38 SSX5 0 genome.wustl.edu 37 X 48053592 48053592 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 X 48053592 48053592 C T SNP SSX5 ENST00000311798 human ensembl 74_37 -1 known missense c.376 p.D126N 0.002 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX5 HGNC ENSG00000165583 tier1 - - 87 0 0.00 28 58 67.44 SYT17 0 genome.wustl.edu 37 16 19191850 19191850 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 16 19191850 19191850 G A SNP SYT17 ENST00000355377 human ensembl 74_37 +1 known missense c.320 p.R107Q 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT17 HGNC ENSG00000103528 tier1 - - 32 0 0.00 22 6 21.43 SZT2 0 genome.wustl.edu 37 1 43907451 43907451 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 43907451 43907451 G T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.7533 p.M2511I 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 37 0 0.00 31 3 8.82 TAS2R8 0 genome.wustl.edu 37 12 10959271 10959271 + Silent SNP A A G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 12 10959271 10959271 A G SNP TAS2R8 ENST00000240615 human ensembl 74_37 -1 known silent c.309 p.L103 0.021 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R8 HGNC ENSG00000121314 tier1 - - 22 0 0.00 35 34 49.28 TIAM1 0 genome.wustl.edu 37 21 32525396 32525396 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 21 32525396 32525396 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.3228 p.L1076 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 tier1 - - 48 0 0.00 41 13 24.07 TMPRSS9 0 genome.wustl.edu 37 19 2389893 2389893 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 19 2389893 2389893 G A SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known missense c.110 p.S37N 0.003 pirsf_Pept_S1A_polyserase-1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 tier1 - - 29 0 0.00 44 27 38.03 TP53 0 genome.wustl.edu 37 17 7577530 7577532 + In_Frame_Del DEL TGG TGG - TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 TGG TGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 17 7577530 7577532 TGG - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_del c.751_749 p.PI250in_frame_delL 1.000:1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 50 0 0.00 19 48 71.64 TPGS2 0 genome.wustl.edu 37 18 34376768 34376768 + Nonstop_Mutation SNP T T A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 18 34376768 34376768 T A SNP TPGS2 ENST00000334295 human ensembl 74_37 -1 known nonstop c.903 p.*301C 0.993 NULL smart_SMI1/KNR4_like_dom - no_errors TPGS2 HGNC ENSG00000134779 tier1 - - 21 0 0.00 32 14 30.43 TPRXL 0 genome.wustl.edu 37 3 14106309 14106309 + Silent SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 14106309 14106309 C T SNP TPRXL ENST00000326972 human ensembl 74_37 +1 known silent c.633 p.S211 0.999 NULL NULL - no_errors TPRXL HGNC ENSG00000180438 10 0 0.00 20 11 35.48 TRIM5 0 genome.wustl.edu 37 11 5687321 5687321 + Frame_Shift_Del DEL A A - TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 11 5687321 5687321 A - DEL TRIM5 ENST00000396853 human ensembl 74_37 -1 known frame_shift_del c.761 p.L254fs 0.002 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 tier1 29 0 0.00 24 3 11.11 TTLL9 0 genome.wustl.edu 37 20 30526987 30526987 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 20 30526987 30526987 G T SNP TTLL9 ENST00000375938 human ensembl 74_37 +1 known missense c.1161 p.M387I 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL9 HGNC ENSG00000131044 tier1 - - 37 0 0.00 66 5 7.04 TYRP1 0 genome.wustl.edu 37 9 12707960 12707960 + RNA SNP T T C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 9 12707960 12707960 T C SNP TYRP1 ENST00000473504 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TYRP1 HGNC ENSG00000107165 tier1 - - 26 0 0.00 16 5 23.81 UBXN2A 0 genome.wustl.edu 37 2 24222791 24222791 + RNA SNP A A T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 2 24222791 24222791 A T SNP UBXN2A ENST00000446425 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors UBXN2A HGNC ENSG00000173960 tier1 - - 15 0 0.00 3 12 80.00 UGT1A9 0 genome.wustl.edu 37 2 234581034 234581034 + Missense_Mutation SNP A A G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 2 234581034 234581034 A G SNP UGT1A9 ENST00000354728 human ensembl 74_37 +1 known missense c.454 p.N152D 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A9 HGNC ENSG00000241119 33 0 0.00 44 6 12.00 UNC13A 0 genome.wustl.edu 37 19 17767143 17767143 + Nonsense_Mutation SNP C C A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 19 17767143 17767143 C A SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known nonsense c.1096 p.E366* 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 tier1 - - 9 0 0.00 16 10 38.46 UNC13C 0 genome.wustl.edu 37 15 54592555 54592555 + Missense_Mutation SNP A A G TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 15 54592555 54592555 A G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.4252 p.I1418V 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 33 0 0.00 19 15 44.12 USE1 0 genome.wustl.edu 37 19 17330466 17330466 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 19 17330466 17330466 G A SNP USE1 ENST00000263897 human ensembl 74_37 +1 known silent c.624 p.A208 0.009 pfam_Vesicle_transport_protein_Use1 pfam_Vesicle_transport_protein_Use1 - no_errors USE1 HGNC ENSG00000053501 36 0 0.00 29 3 9.38 USH1G 0 genome.wustl.edu 37 17 72915950 72915950 + Silent SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 17 72915950 72915950 G A SNP USH1G ENST00000319642 human ensembl 74_37 -1 known silent c.981 p.H327 0.942 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 tier1 - - 46 0 0.00 92 31 25.20 WDR81 0 genome.wustl.edu 37 17 1639332 1639332 + Splice_Site SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 17 1639332 1639332 G T SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known splice_site c.5326-1 e9-1 1.000 - - - no_errors WDR81 HGNC ENSG00000167716 26 0 0.00 70 4 5.41 WDR83 0 genome.wustl.edu 37 19 12780638 12780638 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 19 12780638 12780638 G A SNP WDR83 ENST00000242796 human ensembl 74_37 +1 known missense c.34 p.E12K 0.997 superfamily_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 WDR83 HGNC ENSG00000123154 tier1 - - 30 0 0.00 50 14 21.88 WDR87 0 genome.wustl.edu 37 19 38378468 38378468 + Missense_Mutation SNP A A C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 19 38378468 38378468 A C SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.5843 p.L1948R 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 59 0 0.00 67 20 22.99 ZDHHC23 0 genome.wustl.edu 37 3 113672833 113672833 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 3 113672833 113672833 G T SNP ZDHHC23 ENST00000478793 human ensembl 74_37 +1 known missense c.448 p.G150C 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC23 HGNC ENSG00000184307 tier1 - - 115 0 0.00 120 34 22.08 ZNF264 0 genome.wustl.edu 37 19 57724047 57724047 + Nonsense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 19 57724047 57724047 C T SNP ZNF264 ENST00000263095 human ensembl 74_37 +1 known nonsense c.1582 p.R528* 0.000 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 ZNF264 HGNC ENSG00000083844 tier1 - - 46 0 0.00 57 13 18.57 ZNF43 0 genome.wustl.edu 37 19 21991047 21991047 + Missense_Mutation SNP C C T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 19 21991047 21991047 C T SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.1792 p.E598K 0.026 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 ZNF43 HGNC ENSG00000198521 tier1 - - 23 0 0.00 23 15 39.47 ZNF486 0 genome.wustl.edu 37 19 20308434 20308434 + Silent SNP T T C TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 19 20308434 20308434 T C SNP ZNF486 ENST00000335117 human ensembl 74_37 +1 known silent c.915 p.H305 0.000 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 ZNF486 HGNC ENSG00000256229 tier1 - - 28 0 0.00 20 11 35.48 ZNF496 0 genome.wustl.edu 37 1 247463936 247463936 + Missense_Mutation SNP G G T TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 1 247463936 247463936 G T SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known missense c.1757 p.A586D 0.001 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 tier1 - - 19 0 0.00 28 6 17.65 ZNF599 0 genome.wustl.edu 37 19 35250997 35250997 + Missense_Mutation SNP G G A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 19 35250997 35250997 G A SNP ZNF599 ENST00000329285 human ensembl 74_37 -1 known missense c.709 p.R237C 0.128 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 ZNF599 HGNC ENSG00000153896 tier1 rs143039488 - 31 0 0.00 45 12 21.05 ZNF767 0 genome.wustl.edu 37 7 149317094 149317094 + RNA SNP C C A TCGA-IG-A3QL-01A-11D-A247-09 TCGA-IG-A3QL-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6f2406c6-2f8d-4b40-984d-b737391f1e71 b5d4a67d-09d9-4e47-adf6-6691f9a1aec6 7 149317094 149317094 C A SNP ZNF767 ENST00000463567 human ensembl 74_37 -1 known rna NULL NULL 0.069 - - - no_errors ZNF767 HGNC ENSG00000133624 tier1 - - 56 0 0.00 105 18 14.63