Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCA4 0 genome.wustl.edu 37 1 94520758 94520758 + Missense_Mutation SNP G G C TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 1 94520758 94520758 G C SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known missense c.2496 p.D832E 0.996 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 69 0 0.00 24 12 33.33 - - - ABCB1 0 genome.wustl.edu 37 7 87179797 87179797 + Missense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 7 87179797 87179797 C T SNP ABCB1 ENST00000265724 human ensembl 69_37n -1 known missense c.1211 p.R404Q 1.000 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 54 0 0.00 44 16 26.67 - - - ABCD4 0 genome.wustl.edu 37 14 74766252 74766252 + Missense_Mutation SNP G G C TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 14 74766252 74766252 G C SNP ABCD4 ENST00000356924 human ensembl 69_37n -1 known missense c.284 p.T95R 1.000 pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCD4 HGNC ENSG00000119688 51 0 0.00 6 31 83.78 - - - ACAP2 0 genome.wustl.edu 37 3 195063301 195063301 + Frame_Shift_Del DEL G G - TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 3 195063301 195063301 G - DEL ACAP2 ENST00000326793 human ensembl 69_37n -1 known frame_shift_del c.427 p.Q143fs 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 93 0 0.00 74 43 36.75 - - - ACVR2A 0 genome.wustl.edu 37 2 148684693 148684693 + Missense_Mutation SNP C C G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 2 148684693 148684693 C G SNP ACVR2A ENST00000241416 human ensembl 69_37n +1 known missense c.1392 p.H464Q 0.870 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ENSG00000121989 60 0 0.00 17 26 60.47 - - - ADAM23 0 genome.wustl.edu 37 2 207432046 207432046 + Missense_Mutation SNP G G T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 2 207432046 207432046 G T SNP ADAM23 ENST00000264377 human ensembl 69_37n +1 known missense c.1494 p.K498N 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 40 0 0.00 35 4 10.26 - - - ADAMTS2 0 genome.wustl.edu 37 5 178549720 178549720 + Missense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 5 178549720 178549720 C T SNP ADAMTS2 ENST00000251582 human ensembl 69_37n -1 known missense c.3013 p.A1005T 0.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS2 HGNC ENSG00000087116 51 0 0.00 4 12 75.00 - - - ADRA1A 0 genome.wustl.edu 37 8 26722331 26722331 + Silent SNP G G T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 8 26722331 26722331 G T SNP ADRA1A ENST00000380586 human ensembl 69_37n -1 known silent c.156 p.A52 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrene_rcpt_A1Cs,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ENSG00000120907 50 0 0.00 22 22 50.00 - - - ANKRD12 0 genome.wustl.edu 37 18 9182463 9182463 + Silent SNP G G A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 18 9182463 9182463 G A SNP ANKRD12 ENST00000262126 human ensembl 69_37n +1 known silent c.33 p.Q11 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD12 HGNC ENSG00000101745 38 0 0.00 23 14 37.84 - - - ANKRD35 0 genome.wustl.edu 37 1 145562187 145562187 + Missense_Mutation SNP T T A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 1 145562187 145562187 T A SNP ANKRD35 ENST00000355594 human ensembl 69_37n +1 known missense c.1875 p.S625R 0.984 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD35 HGNC ENSG00000198483 47 0 0.00 74 16 17.78 - - - BCOR 0 genome.wustl.edu 37 X 39922163 39922163 + Nonsense_Mutation SNP C C A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 X 39922163 39922163 C A SNP BCOR ENST00000378444 human ensembl 69_37n -1 known nonsense c.4009 p.E1337* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 164 0 0.00 67 87 56.49 - - - C10orf118 0 genome.wustl.edu 37 10 115887422 115887422 + Missense_Mutation SNP T T A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 10 115887422 115887422 T A SNP C10orf118 ENST00000369287 human ensembl 69_37n -1 known missense c.2191 p.N731Y 1.000 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC ENSG00000165813 26 0 0.00 46 12 20.69 - - - C16orf95 0 genome.wustl.edu 37 16 87350773 87350773 + Missense_Mutation SNP C C A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 16 87350773 87350773 C A SNP C16orf95 ENST00000567970 human ensembl 69_37n -1 known missense c.76 p.A26S 0.001 NULL NULL - no_errors C16orf95 Clone_based_vega_gene ENSG00000260456 114 0 0.00 43 5 10.42 - - - C17orf62 0 genome.wustl.edu 37 17 80401650 80401650 + Missense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 17 80401650 80401650 C T SNP C17orf62 ENST00000336995 human ensembl 69_37n -1 known missense c.349 p.D117N 0.000 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 103 0 0.00 27 4 12.90 - - - C20orf112 0 genome.wustl.edu 37 20 31040091 31040091 + Missense_Mutation SNP C C G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 20 31040091 31040091 C G SNP C20orf112 ENST00000359676 human ensembl 69_37n -1 known missense c.1038 p.L346F 1.000 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 88 0 0.00 46 8 14.81 - - - C3orf49 0 genome.wustl.edu 37 3 63817430 63817430 + Missense_Mutation SNP G G C TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 3 63817430 63817430 G C SNP C3orf49 ENST00000295896 human ensembl 69_37n +1 known missense c.759 p.Q253H 1.000 NULL NULL - no_errors C3orf49 HGNC ENSG00000163632 56 0 0.00 27 4 12.90 - - - C5orf42 0 genome.wustl.edu 37 5 37142576 37142576 + Missense_Mutation SNP A A C TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 5 37142576 37142576 A C SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.8306 p.F2769C 0.002 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 18 0 0.00 17 6 26.09 - - - C9orf84 0 genome.wustl.edu 37 9 114543270 114543270 + Missense_Mutation SNP G G T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 9 114543270 114543270 G T SNP C9orf84 ENST00000318737 human ensembl 69_37n -1 known missense c.5 p.T2K 0.004 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 37 0 0.00 20 3 13.04 - - - CALCOCO1 0 genome.wustl.edu 37 12 54109767 54109767 + Missense_Mutation SNP T T G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 12 54109767 54109767 T G SNP CALCOCO1 ENST00000550804 human ensembl 69_37n -1 known missense c.1070 p.Q357P 1.000 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 66 0 0.00 54 9 14.29 - - - CCDC74A 0 genome.wustl.edu 37 2 132285769 132285769 + Missense_Mutation SNP G G C TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 2 132285769 132285769 G C SNP CCDC74A ENST00000295171 human ensembl 69_37n +1 known missense c.226 p.E76Q 0.995 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 72 0 0.00 26 30 53.57 - - - CD6 0 genome.wustl.edu 37 11 60776307 60776307 + Missense_Mutation SNP G G C TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 11 60776307 60776307 G C SNP CD6 ENST00000538611 human ensembl 69_37n +1 novel missense c.302 p.R101P 0.023 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CD6 HGNC ENSG00000013725 8 0 0.00 4 5 55.56 - - - CEP78 0 genome.wustl.edu 37 9 80877837 80877837 + Silent SNP G G A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 9 80877837 80877837 G A SNP CEP78 ENST00000376597 human ensembl 69_37n +1 known silent c.1398 p.E466 0.994 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors CEP78 HGNC ENSG00000148019 53 0 0.00 32 4 11.11 - - - DDOST 0 genome.wustl.edu 37 1 20982252 20982252 + Missense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 1 20982252 20982252 C T SNP DDOST ENST00000375048 human ensembl 69_37n -1 known missense c.424 p.G142S 1.000 pfam_OligosaccharylTrfase_su_Wbp1 pfam_OligosaccharylTrfase_su_Wbp1 - no_errors DDOST HGNC ENSG00000244038 12 0 0.00 8 4 33.33 - - - DDR2 0 genome.wustl.edu 37 1 162724557 162724557 + Missense_Mutation SNP A A G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 1 162724557 162724557 A G SNP DDR2 ENST00000367921 human ensembl 69_37n +1 known missense c.329 p.H110R 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 37 0 0.00 42 12 21.82 - - - DENND5B 0 genome.wustl.edu 37 12 31595754 31595754 + Missense_Mutation SNP G G T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 12 31595754 31595754 G T SNP DENND5B ENST00000306833 human ensembl 69_37n -1 known missense c.2072 p.P691Q 1.000 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 77 0 0.00 62 7 10.14 - - - DGKG 0 genome.wustl.edu 37 3 185882704 185882704 + Nonsense_Mutation SNP G G T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 3 185882704 185882704 G T SNP DGKG ENST00000265022 human ensembl 69_37n -1 known nonsense c.2199 p.C733* 0.998 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 63 0 0.00 33 26 44.07 - - - DNM1P34 0 genome.wustl.edu 37 15 75592328 75592328 + RNA SNP C C A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 15 75592328 75592328 C A SNP DNM1P34 ENST00000567292 human ensembl 69_37n -1 known rna NULL NULL 0.993 - - - no_errors DNM1P34 HGNC ENSG00000260357 21 0 0.00 12 4 25.00 - - - ESPNP 0 genome.wustl.edu 37 1 17017735 17017735 + RNA SNP G G A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 1 17017735 17017735 G A SNP ESPNP ENST00000492551 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000116219 137 0 0.00 82 20 19.61 - - - FAM170B 0 genome.wustl.edu 37 10 50341903 50341903 + Missense_Mutation SNP T T G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 10 50341903 50341903 T G SNP FAM170B ENST00000311787 human ensembl 69_37n -1 known missense c.61 p.S21R 0.006 NULL NULL - no_errors FAM170B HGNC ENSG00000172538 66 0 0.00 61 21 25.61 - - - FAM198A 0 genome.wustl.edu 37 3 43074129 43074129 + Nonsense_Mutation SNP C C A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 3 43074129 43074129 C A SNP FAM198A ENST00000273146 human ensembl 69_37n +1 known nonsense c.374 p.S125* 0.008 NULL NULL - no_errors FAM198A HGNC ENSG00000144649 37 0 0.00 5 19 79.17 - - - FAM3B 0 genome.wustl.edu 37 21 42729116 42729116 + Missense_Mutation SNP C C G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 21 42729116 42729116 C G SNP FAM3B ENST00000357985 human ensembl 69_37n +1 known missense c.700 p.R234G 0.000 NULL NULL - no_errors FAM3B HGNC ENSG00000183844 33 0 0.00 20 14 41.18 - - - FBLN2 0 genome.wustl.edu 37 3 13679353 13679353 + Missense_Mutation SNP G G C TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 3 13679353 13679353 G C SNP FBLN2 ENST00000404922 human ensembl 69_37n +1 known missense c.3630 p.W1210C 1.000 NULL pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 28 0 0.00 3 8 72.73 - - - FBXO25 0 genome.wustl.edu 37 8 417720 417720 + Missense_Mutation SNP G G T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 8 417720 417720 G T SNP FBXO25 ENST00000276326 human ensembl 69_37n +1 known missense c.988 p.D330Y 1.000 superfamily_F-box_dom_cyclin-like superfamily_F-box_dom_cyclin-like - no_errors FBXO25 HGNC ENSG00000147364 149 0 0.00 100 22 18.03 - - - FLJ42875 0 genome.wustl.edu 37 1 2983987 2983987 + RNA SNP C C A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 1 2983987 2983987 C A SNP FLJ42875 ENST00000321336 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RP1-163G9.1 Clone_based_vega_gene ENSG00000177133 76 0 0.00 28 10 26.32 - - - FMN2 0 genome.wustl.edu 37 1 240370261 240370261 + Missense_Mutation SNP G G A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 1 240370261 240370261 G A SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.2149 p.A717T 0.000 NULL pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 46 0 0.00 42 13 23.64 - - - FPR1 0 genome.wustl.edu 37 19 52249452 52249452 + Missense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 19 52249452 52249452 C T SNP FPR1 ENST00000304748 human ensembl 69_37n -1 known missense c.796 p.V266I 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 19 0 0.00 8 10 55.56 - - - HCN3 0 genome.wustl.edu 37 1 155255569 155255569 + Missense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 1 155255569 155255569 C T SNP HCN3 ENST00000368358 human ensembl 69_37n +1 known missense c.1291 p.H431Y 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 39 0 0.00 48 21 30.43 - - - HECTD2 0 genome.wustl.edu 37 10 93240885 93240885 + Missense_Mutation SNP A A T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 10 93240885 93240885 A T SNP HECTD2 ENST00000446394 human ensembl 69_37n +1 known missense c.700 p.I234L 1.000 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 23 0 0.00 20 10 33.33 - - - HGD 0 genome.wustl.edu 37 3 120347346 120347346 + Missense_Mutation SNP C C A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 3 120347346 120347346 C A SNP HGD ENST00000283871 human ensembl 69_37n -1 known missense c.1219 p.A407S 1.000 pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase - no_errors HGD HGNC ENSG00000113924 55 0 0.00 32 34 51.52 - - - IARS2 0 genome.wustl.edu 37 1 220275717 220275717 + Silent SNP C C A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 1 220275717 220275717 C A SNP IARS2 ENST00000302637 human ensembl 69_37n +1 known silent c.712 p.R238 1.000 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-synt pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt - no_errors IARS2 HGNC ENSG00000067704 38 0 0.00 36 12 25.00 - - - IFNK 0 genome.wustl.edu 37 9 27524538 27524538 + Missense_Mutation SNP G G T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 9 27524538 27524538 G T SNP IFNK ENST00000276943 human ensembl 69_37n +1 known missense c.204 p.L68F 0.369 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNK HGNC ENSG00000147896 60 0 0.00 29 34 53.97 - - - IGHV3-33 0 genome.wustl.edu 37 14 106815740 106815740 + Silent SNP A A G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 14 106815740 106815740 A G SNP IGHV3-33 ENST00000390615 human ensembl 69_37n -1 known silent c.333 p.A111 0.678 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-33 HGNC ENSG00000211955 60 0 0.00 10 3 23.08 - - - KDM6B 0 genome.wustl.edu 37 17 7750324 7750324 + Missense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 17 7750324 7750324 C T SNP KDM6B ENST00000254846 human ensembl 69_37n +1 known missense c.899 p.P300L 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 34 0 0.00 19 26 57.78 - - - KLK12 0 genome.wustl.edu 37 19 51537845 51537845 + Silent SNP A A G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 19 51537845 51537845 A G SNP KLK12 ENST00000250351 human ensembl 69_37n -1 known silent c.33 p.V11 0.000 superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors KLK12 HGNC ENSG00000186474 36 0 0.00 24 21 46.67 - - - LRP1 0 genome.wustl.edu 37 12 57552402 57552402 + Silent SNP G G T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 12 57552402 57552402 G T SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known silent c.1779 p.R593 0.999 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 29 0 0.00 13 19 59.38 - - - LRRC55 0 genome.wustl.edu 37 11 56949607 56949607 + Missense_Mutation SNP C C G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 11 56949607 56949607 C G SNP LRRC55 ENST00000497933 human ensembl 69_37n +1 known missense c.240 p.S80R 1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC55 HGNC ENSG00000183908 110 0 0.00 42 22 34.38 - - - MACF1 0 genome.wustl.edu 37 1 39851166 39851166 + Nonsense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 1 39851166 39851166 C T SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known nonsense c.7723 p.Q2575* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 44 0 0.00 36 9 20.00 - - - MYH7B 0 genome.wustl.edu 37 20 33583233 33583233 + Missense_Mutation SNP G G C TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 20 33583233 33583233 G C SNP MYH7B ENST00000262873 human ensembl 69_37n +1 novel missense c.2921 p.R974P 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 79 0 0.00 20 28 58.33 - - - NOTCH3 0 genome.wustl.edu 37 19 15271746 15271747 + Frame_Shift_Ins INS - - G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 19 15271746 15271747 - G INS NOTCH3 ENST00000263388 human ensembl 69_37n -1 known frame_shift_ins c.6693_6692 p.A2233fs 0.009:0.128 pfam_DUF3454_notch,pirsf_Notch pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 20 0 0.00 7 35 83.33 - - - NRXN1 0 genome.wustl.edu 37 2 50723212 50723212 + Missense_Mutation SNP A A T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 2 50723212 50723212 A T SNP NRXN1 ENST00000402717 human ensembl 69_37n -1 known missense c.2877 p.D959E 0.996 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 95 0 0.00 32 57 64.04 - - - OCRL 0 genome.wustl.edu 37 X 128724525 128724525 + RNA SNP G G A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 X 128724525 128724525 G A SNP OCRL ENST00000463271 human ensembl 69_37n +1 known rna NULL NULL 0.030 - - - no_errors OCRL HGNC ENSG00000122126 35 0 0.00 21 3 12.50 - - - PARG 0 genome.wustl.edu 37 10 51077584 51077584 + Missense_Mutation SNP G G A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 10 51077584 51077584 G A SNP PARG ENST00000402038 human ensembl 69_37n -1 known missense c.551 p.S184L 1.000 pfam_Poly_GlycHdrlase pfam_Poly_GlycHdrlase - no_start_codon PARG HGNC ENSG00000227345 277 0 0.00 208 179 46.25 - - - PARP10 0 genome.wustl.edu 37 8 145057586 145057586 + Missense_Mutation SNP C C A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 8 145057586 145057586 C A SNP PARP10 ENST00000313028 human ensembl 69_37n -1 known missense c.2171 p.R724L 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 62 0 0.00 5 21 80.77 - - - PCNT 0 genome.wustl.edu 37 21 47783734 47783734 + Missense_Mutation SNP G G A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 21 47783734 47783734 G A SNP PCNT ENST00000359568 human ensembl 69_37n +1 known missense c.2494 p.D832N 0.084 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 52 0 0.00 11 14 56.00 - - - PGGT1B 0 genome.wustl.edu 37 5 114573581 114573581 + Missense_Mutation SNP C C G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 5 114573581 114573581 C G SNP PGGT1B ENST00000419445 human ensembl 69_37n -1 known missense c.453 p.L151F 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors PGGT1B HGNC ENSG00000164219 47 0 0.00 4 18 81.82 - - - PIBF1 0 genome.wustl.edu 37 13 73409505 73409506 + Frame_Shift_Ins INS - - G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 13 73409505 73409506 - G INS PIBF1 ENST00000326291 human ensembl 69_37n +1 known frame_shift_ins c.1222_1223 p.N409fs 1.000:1.000 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 29 0 0.00 16 3 15.79 - - - PLEKHM1 0 genome.wustl.edu 37 17 43517503 43517503 + Missense_Mutation SNP G G A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 17 43517503 43517503 G A SNP PLEKHM1 ENST00000590991 human ensembl 69_37n -1 known missense c.128 p.P43L 0.000 NULL NULL - no_errors PLEKHM1 HGNC ENSG00000225190 54 0 0.00 7 3 30.00 - - - PLXNB2 0 genome.wustl.edu 37 22 50721794 50721794 + Missense_Mutation SNP G G A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 22 50721794 50721794 G A SNP PLXNB2 ENST00000359337 human ensembl 69_37n -1 known missense c.2651 p.S884L 0.014 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 85 0 0.00 8 37 82.22 - - - PPP1R10 0 genome.wustl.edu 37 6 30569978 30569978 + Silent SNP A A G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 6 30569978 30569978 A G SNP PPP1R10 ENST00000376511 human ensembl 69_37n -1 known silent c.2448 p.H816 0.954 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 87 0 0.00 42 13 23.64 - - - RGPD4 0 genome.wustl.edu 37 2 108473239 108473239 + Missense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 2 108473239 108473239 C T SNP RGPD4 ENST00000354986 human ensembl 69_37n +1 known missense c.1090 p.R364C 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 9 0 0.00 4 3 42.86 - - - RNF123 0 genome.wustl.edu 37 3 49737699 49737699 + Frame_Shift_Del DEL T T - TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 3 49737699 49737699 T - DEL RNF123 ENST00000327697 human ensembl 69_37n +1 known frame_shift_del c.1024 p.L342fs 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 109 0 0.00 8 39 81.25 - - - SDHAP2 0 genome.wustl.edu 37 3 195411037 195411037 + RNA SNP G G A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 3 195411037 195411037 G A SNP SDHAP2 ENST00000445430 human ensembl 69_37n +1 known rna NULL NULL 0.007 - - - no_errors SDHAP2 HGNC ENSG00000215837 9 0 0.00 13 4 23.53 - - - SERPINB11 0 genome.wustl.edu 37 18 61383310 61383310 + Silent SNP G G A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 18 61383310 61383310 G A SNP SERPINB11 ENST00000382749 human ensembl 69_37n +1 known silent c.399 p.L133 0.532 NULL NULL - pseudogene SERPINB11 HGNC ENSG00000206072 50 0 0.00 28 4 12.50 - - - SERTAD2 0 genome.wustl.edu 37 2 64863944 64863944 + Missense_Mutation SNP A A G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 2 64863944 64863944 A G SNP SERTAD2 ENST00000313349 human ensembl 69_37n -1 known missense c.62 p.I21T 1.000 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD2 HGNC ENSG00000179833 48 0 0.00 30 6 16.67 - - - SGIP1 0 genome.wustl.edu 37 1 67099831 67099831 + Silent SNP G G C TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 1 67099831 67099831 G C SNP SGIP1 ENST00000237247 human ensembl 69_37n +1 known silent c.168 p.S56 0.999 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 44 0 0.00 32 7 17.95 - - - SHMT2 0 genome.wustl.edu 37 12 57628071 57628071 + Missense_Mutation SNP G G T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 12 57628071 57628071 G T SNP SHMT2 ENST00000328923 human ensembl 69_37n +1 known missense c.1442 p.R481L 0.918 superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC ENSG00000182199 42 0 0.00 6 21 77.78 - - - SKIV2L2 0 genome.wustl.edu 37 5 54637581 54637581 + Missense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 5 54637581 54637581 C T SNP SKIV2L2 ENST00000230640 human ensembl 69_37n +1 known missense c.763 p.H255Y 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 53 0 0.00 35 4 10.26 - - - SYNE4 0 genome.wustl.edu 37 19 36498094 36498094 + Missense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 19 36498094 36498094 C T SNP SYNE4 ENST00000324444 human ensembl 69_37n -1 known missense c.356 p.R119Q 0.967 NULL pfam_KASH,pfscan_KASH - no_errors SYNE4 HGNC ENSG00000181392 60 0 0.00 44 27 38.03 - - - TAAR1 0 genome.wustl.edu 37 6 132967074 132967074 + Silent SNP A A G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 6 132967074 132967074 A G SNP TAAR1 ENST00000275216 human ensembl 69_37n -1 known silent c.69 p.R23 0.000 prints_Trac_amin_rcpt_1 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trac_amin_rcpt_1,prints_Trace_amine_rcpt - no_errors TAAR1 HGNC ENSG00000146399 67 0 0.00 8 29 78.38 - - - TIAM2 0 genome.wustl.edu 37 6 155451207 155451207 + Missense_Mutation SNP G G A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 6 155451207 155451207 G A SNP TIAM2 ENST00000456144 human ensembl 69_37n +1 known missense c.850 p.G284S 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,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 TIAM2 HGNC ENSG00000146426 67 0 0.00 35 4 10.26 - - - TKTL2 0 genome.wustl.edu 37 4 164394064 164394064 + Missense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 4 164394064 164394064 C T SNP TKTL2 ENST00000280605 human ensembl 69_37n -1 known missense c.823 p.V275I 0.004 NULL pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 27 0 0.00 26 4 13.33 - - - TNRC18 0 genome.wustl.edu 37 7 5364777 5364777 + Missense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 7 5364777 5364777 C T SNP TNRC18 ENST00000399537 human ensembl 69_37n -1 known missense c.6250 p.A2084T 0.021 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 85 0 0.00 26 20 43.48 - - - TP53 0 genome.wustl.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G G A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 17 7577022 7577022 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.916 p.R306* 1.000 NULL 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 85 0 0.00 15 82 84.54 - - - TRIL 0 genome.wustl.edu 37 7 28995298 28995298 + RNA SNP C C G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 7 28995298 28995298 C G SNP TRIL ENST00000322982 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors TRIL HGNC ENSG00000176734 55 0 0.00 18 18 50.00 - - - TTC40 0 genome.wustl.edu 37 10 134673963 134673963 + Missense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 10 134673963 134673963 C T SNP TTC40 ENST00000368586 human ensembl 69_37n -1 novel missense c.5156 p.R1719Q 0.116 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 54 0 0.00 42 26 38.24 - - - UBQLN2 0 genome.wustl.edu 37 X 56590878 56590878 + Missense_Mutation SNP T T G TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 X 56590878 56590878 T G SNP UBQLN2 ENST00000338222 human ensembl 69_37n +1 known missense c.572 p.V191G 1.000 smart_STI1_HS-bd pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ENSG00000188021 27 0 0.00 32 11 25.58 - - - USH2A 0 genome.wustl.edu 37 1 215953193 215953193 + Missense_Mutation SNP G G C TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 1 215953193 215953193 G C SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.10931 p.T3644R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 38 0 0.00 33 21 38.89 - - - WNK2 0 genome.wustl.edu 37 9 96030076 96030076 + Nonsense_Mutation SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 9 96030076 96030076 C T SNP WNK2 ENST00000297954 human ensembl 69_37n +1 known nonsense c.3745 p.Q1249* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK2 HGNC ENSG00000165238 74 0 0.00 21 4 16.00 - - - XIRP2 0 genome.wustl.edu 37 2 168115459 168115459 + Silent SNP C C T TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 2 168115459 168115459 C T SNP XIRP2 ENST00000420519 human ensembl 69_37n +1 known silent c.2502 p.L834 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 20 0 0.00 27 8 22.86 - - - ZNF285 0 genome.wustl.edu 37 19 44896528 44896528 + Missense_Mutation SNP T T A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 19 44896528 44896528 T A SNP ZNF285 ENST00000330997 human ensembl 69_37n -1 known missense c.118 p.N40Y 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF285 HGNC ENSG00000267508 148 0 0.00 89 80 47.34 - - - ZNF705G 0 genome.wustl.edu 37 8 7218752 7218752 + Missense_Mutation SNP G G C TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 8 7218752 7218752 G C SNP ZNF705G ENST00000400078 human ensembl 69_37n -1 known missense c.19 p.L7V 0.747 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF705G HGNC ENSG00000215372 113 0 0.00 147 18 10.91 - - - ZNF733P 0 genome.wustl.edu 37 7 62751948 62751948 + RNA SNP T T A TCGA-AQ-A54N-01A-11D-A25Q-09 TCGA-AQ-A54N-10A-01D-A25Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 292a1557-bc2e-449c-9d24-0ce01b5b2d65 2a07d013-012c-492a-90c2-0fcfe94b1c63 7 62751948 62751948 T A SNP ZNF733P ENST00000331425 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors ZNF733P HGNC ENSG00000185037 76 0 0.00 58 16 21.62 - - -