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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val ANKRD13C 0 genome.wustl.edu 37 1 70790568 70790568 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 70790568 70790568 G A SNP ANKRD13C ENST00000370944 human ensembl 74_37 -1 known missense c.545 p.A182V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ENSG00000118454 tier1 - - 73 0 0.00 57 30 34.48 53 0 0.00 44 11 19.64 PPP1R13B 0 genome.wustl.edu 37 14 104205300 104205300 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 14 104205300 104205300 G A SNP PPP1R13B ENST00000202556 human ensembl 74_37 -1 known missense c.2653 p.R885W 1.000 superfamily_SH3_domain pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 tier1 - - 33 0 0.00 23 12 34.29 72 0 0.00 34 22 39.29 LAMB4 0 genome.wustl.edu 37 7 107743555 107743555 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 107743555 107743555 C T SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.1114 p.D372N 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 tier1 - - 48 0 0.00 34 5 12.82 29 0 0.00 27 9 25.00 SCAMP2 0 genome.wustl.edu 37 15 75142989 75142989 + Missense_Mutation SNP G G T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 75142989 75142989 G T SNP SCAMP2 ENST00000268099 human ensembl 74_37 -1 known missense c.498 p.N166K 1.000 pfam_SCAMP pfam_SCAMP - no_errors SCAMP2 HGNC ENSG00000140497 tier1 - - 34 0 0.00 26 10 27.78 61 0 0.00 67 11 14.10 ENSG00000272625 0 genome.wustl.edu 37 18 2921524 2921524 + R SNP T T C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 18 2921524 2921524 T C SNP ENSG00000272625 ENST00000608032 human ensembl 74_37 +1 known rna NULL NULL 0.922 - - - no_errors RP11-737O24.5 Clone_based_vega_gene ENSG00000272625 tier1 - - 50 0 0.00 36 18 33.33 105 0 0.00 74 36 32.73 MAPT 0 genome.wustl.edu 37 17 44067384 44067384 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 44067384 44067384 C T SNP MAPT ENST00000344290 human ensembl 74_37 +1 known silent c.1323 p.Y441 1.000 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 tier1 - - 47 0 0.00 30 27 47.37 62 0 0.00 38 29 43.28 TEX15 0 genome.wustl.edu 37 8 30695394 30695394 + Silent SNP A A G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 30695394 30695394 A G SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known silent c.7257 p.T2419 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 tier1 - - 87 0 0.00 74 34 31.48 66 0 0.00 87 41 32.03 SEMA6A 0 genome.wustl.edu 37 5 115827498 115827498 + Missense_Mutation SNP T T A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 115827498 115827498 T A SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.473 p.E158V 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,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 tier1 - - 36 0 0.00 39 18 31.58 58 0 0.00 86 15 14.85 SORCS3 0 genome.wustl.edu 37 10 107023093 107023093 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 107023093 107023093 C T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known silent c.3630 p.S1210 0.998 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 46 0 0.00 55 9 14.06 50 0 0.00 65 12 15.58 UGT3A2 0 genome.wustl.edu 37 5 36035965 36035965 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 36035965 36035965 C T SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known silent c.1407 p.T469 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 tier1 rs138782726 - 48 0 0.00 31 9 22.50 68 0 0.00 62 16 20.51 GREB1 0 genome.wustl.edu 37 2 11767167 11767167 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 11767167 11767167 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.4386 p.A1462 0.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 71 0 0.00 44 15 25.42 60 0 0.00 44 25 36.23 ANLN 0 genome.wustl.edu 37 7 36458929 36458929 + Silent SNP T T C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 36458929 36458929 T C SNP ANLN ENST00000265748 human ensembl 74_37 +1 known silent c.1710 p.S570 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 tier1 - - 45 0 0.00 37 21 36.21 34 0 0.00 56 27 32.53 THBS4 0 genome.wustl.edu 37 5 79351687 79351687 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 79351687 79351687 G A SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known silent c.372 p.R124 0.950 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 tier1 - - 31 0 0.00 35 13 27.08 101 0 0.00 96 21 17.95 CNNM1 0 genome.wustl.edu 37 10 101147724 101147724 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 101147724 101147724 G A SNP CNNM1 ENST00000356713 human ensembl 74_37 +1 known missense c.2488 p.A830T 0.980 NULL pfam_DUF21,pfam_CBS_dom - no_errors CNNM1 HGNC ENSG00000119946 tier1 - - 73 0 0.00 38 8 17.39 50 0 0.00 36 7 16.28 TICRR 0 genome.wustl.edu 37 15 90166933 90166933 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 90166933 90166933 C T SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.3392 p.P1131L 0.001 NULL NULL - no_errors TICRR HGNC ENSG00000140534 tier1 rs201365800 - 61 0 0.00 35 26 42.62 68 0 0.00 65 34 34.34 KIF17 0 genome.wustl.edu 37 1 21036298 21036298 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 21036298 21036298 G A SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known silent c.504 p.G168 0.120 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 tier1 rs144285910 GMAF=0.0005 15 0 0.00 10 7 41.18 51 0 0.00 27 13 32.50 CERK 0 genome.wustl.edu 37 22 47095308 47095308 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 22 47095308 47095308 C T SNP CERK ENST00000216264 human ensembl 74_37 -1 known missense c.845 p.R282H 0.988 NULL pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-D_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 tier1 - - 45 0 0.00 36 7 16.28 82 0 0.00 68 21 23.08 RIN3 0 genome.wustl.edu 37 14 93107613 93107613 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 14 93107613 93107613 C T SNP RIN3 ENST00000555589 human ensembl 74_37 +1 known missense c.398 p.P133L 1.000 NULL NULL - no_errors RIN3 HGNC ENSG00000100599 tier1 - - 39 0 0.00 23 6 20.69 86 0 0.00 51 30 36.14 STAB2 0 genome.wustl.edu 37 12 104015858 104015858 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 104015858 104015858 C T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known silent c.456 p.D152 0.866 smart_EGF_laminin pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 55 0 0.00 52 34 39.53 90 0 0.00 86 57 39.86 ZNF235 0 genome.wustl.edu 37 19 44791889 44791889 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 44791889 44791889 C T SNP ZNF235 ENST00000291182 human ensembl 74_37 -1 known missense c.1699 p.G567R 0.999 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 ZNF235 HGNC ENSG00000159917 tier1 - - 19 0 0.00 29 16 35.56 34 0 0.00 24 26 52.00 MAMLD1 0 genome.wustl.edu 37 X 149639409 149639409 + Missense_Mutation SNP A A T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 149639409 149639409 A T SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known missense c.1489 p.M497L 0.987 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 tier1 - - 12 0 0.00 17 4 19.05 35 0 0.00 22 12 35.29 CLU 0 genome.wustl.edu 37 8 27462569 27462569 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 27462569 27462569 G A SNP CLU ENST00000560366 human ensembl 74_37 -1 known missense c.857 p.P286L 0.000 pfam_Clusterin-like,smart_Clusterin_C pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLU HGNC ENSG00000120885 tier1 - - 40 0 0.00 44 10 18.52 84 0 0.00 80 14 14.89 HEATR5B 0 genome.wustl.edu 37 2 37295977 37295977 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 37295977 37295977 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.1024 p.R342W 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 - - 56 0 0.00 62 17 21.52 69 0 0.00 94 22 18.97 CSGALCT1 0 genome.wustl.edu 37 8 19363317 19363317 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 19363317 19363317 G A SNP CSGALCT1 ENST00000311540 human ensembl 74_37 -1 known missense c.29 p.A10V 0.905 NULL pfam_Chond_Galc - no_errors CSGALCT1 HGNC ENSG00000147408 tier1 - - 27 0 0.00 19 4 17.39 71 0 0.00 79 21 21.00 TTC21A 0 genome.wustl.edu 37 3 39174499 39174499 + R SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 39174499 39174499 G A SNP TTC21A ENST00000493856 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC21A HGNC ENSG00000168026 tier1 - - 97 0 0.00 114 12 9.52 87 0 0.00 92 20 17.86 PPM1H 0 genome.wustl.edu 37 12 63042336 63042336 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 63042336 63042336 C T SNP PPM1H ENST00000228705 human ensembl 74_37 -1 known missense c.1478 p.R493Q 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1H HGNC ENSG00000111110 tier1 - - 29 0 0.00 22 18 45.00 34 0 0.00 46 29 38.67 SLC22A16 0 genome.wustl.edu 37 6 110768131 110768131 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 110768131 110768131 G A SNP SLC22A16 ENST00000368919 human ensembl 74_37 -1 known missense c.596 p.A199V 0.268 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 tier1 - - 37 0 0.00 27 19 41.30 49 0 0.00 46 31 40.26 PTK2B 0 genome.wustl.edu 37 8 27296914 27296914 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 27296914 27296914 C T SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known silent c.1833 p.F611 1.000 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,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 tier1 - - 17 0 0.00 15 14 48.28 57 0 0.00 72 20 21.74 MRPL35 0 genome.wustl.edu 37 2 86437709 86437709 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 86437709 86437709 C T SNP MRPL35 ENST00000337109 human ensembl 74_37 +1 known missense c.485 p.T162M 1.000 pfam_Ribosomal_L35 pfam_Ribosomal_L35 - no_errors MRPL35 HGNC ENSG00000132313 tier1 - - 53 0 0.00 50 31 38.27 10 0 0.00 16 12 42.86 CEP152 0 genome.wustl.edu 37 15 49030471 49030471 + Missense_Mutation SNP T T A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 49030471 49030471 T A SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.5108 p.D1703V 1.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 tier1 - - 66 0 0.00 58 23 28.40 28 0 0.00 25 27 50.94 TAF10 0 genome.wustl.edu 37 11 6632451 6632451 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 6632451 6632451 G A SNP TAF10 ENST00000299424 human ensembl 74_37 -1 known missense c.536 p.T179M 1.000 pirsf_TFIID_30kDa pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa - no_errors TAF10 HGNC ENSG00000166337 tier1 - - 30 0 0.00 14 8 36.36 72 0 0.00 30 16 34.78 IPO4 0 genome.wustl.edu 37 14 24655084 24655084 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 14 24655084 24655084 G A SNP IPO4 ENST00000354464 human ensembl 74_37 -1 known silent c.1152 p.G384 0.001 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC ENSG00000196497 tier1 - - 13 0 0.00 13 14 51.85 40 0 0.00 16 29 64.44 MACF1 0 genome.wustl.edu 37 1 39800065 39800065 + Missense_Mutation SNP G G C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 39800065 39800065 G C SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.7916 p.G2639A 0.860 pfam_Plectin_repeat,superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 59 0 0.00 54 15 21.74 47 0 0.00 49 18 26.87 NUP93 0 genome.wustl.edu 37 16 56867314 56867314 + Missense_Mutation SNP G G T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 56867314 56867314 G T SNP NUP93 ENST00000308159 human ensembl 74_37 +1 known missense c.1533 p.Q511H 1.000 pfam_Nucleoporin_int_Nup93/Nic96 pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 tier1 - - 22 0 0.00 23 13 36.11 61 0 0.00 58 15 20.55 ABCF1 0 genome.wustl.edu 37 6 30552061 30552061 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 30552061 30552061 G A SNP ABCF1 ENST00000326195 human ensembl 74_37 +1 known missense c.1195 p.G399R 0.997 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 tier1 - - 35 0 0.00 20 10 33.33 29 0 0.00 23 9 28.12 SLC9A9 0 genome.wustl.edu 37 3 143185954 143185954 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 143185954 143185954 G A SNP SLC9A9 ENST00000316549 human ensembl 74_37 -1 known missense c.1394 p.T465M 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 tier1 - - 61 0 0.00 43 27 38.57 105 0 0.00 74 34 31.48 CIB4 0 genome.wustl.edu 37 2 26852317 26852317 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 26852317 26852317 C T SNP CIB4 ENST00000288861 human ensembl 74_37 -1 known silent c.147 p.T49 0.005 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CIB4 HGNC ENSG00000157884 tier1 - - 30 0 0.00 26 7 21.21 31 0 0.00 29 4 12.12 DAPK1 0 genome.wustl.edu 37 9 90321168 90321168 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 9 90321168 90321168 G A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.3257 p.R1086Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 - - 67 0 0.00 39 13 24.53 37 0 0.00 17 3 15.00 NCOA5 0 genome.wustl.edu 37 20 44698964 44698964 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 20 44698964 44698964 C T SNP NCOA5 ENST00000290231 human ensembl 74_37 -1 known missense c.250 p.V84M 0.999 NULL superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 tier1 - - 34 0 0.00 30 8 21.05 44 0 0.00 33 17 34.00 RTEL1 0 genome.wustl.edu 37 20 62294213 62294213 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 20 62294213 62294213 G A SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known missense c.509 p.R170H 1.000 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_D_helicase_D-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 tier1 - - 20 0 0.00 24 17 41.46 74 0 0.00 56 12 17.65 LPPR2 0 genome.wustl.edu 37 19 11473210 11473210 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 11473210 11473210 C T SNP LPPR2 ENST00000591608 human ensembl 74_37 +1 known missense c.610 p.R204C 0.999 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors DKFZP761J1410 Uniprot_gn ENSG00000105520 tier1 - - 42 0 0.00 16 18 52.94 28 0 0.00 21 13 38.24 WDR47 0 genome.wustl.edu 37 1 109554234 109554234 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 109554234 109554234 C T SNP WDR47 ENST00000400794 human ensembl 74_37 -1 known missense c.455 p.R152H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 tier1 - - 92 0 0.00 59 33 35.87 79 0 0.00 68 25 26.88 OR1C1 0 genome.wustl.edu 37 1 247921501 247921501 + Missense_Mutation SNP C C G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 247921501 247921501 C G SNP OR1C1 ENST00000408896 human ensembl 74_37 -1 known missense c.208 p.D70H 0.980 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1C1 HGNC ENSG00000221888 tier1 - - 61 0 0.00 54 22 28.95 51 0 0.00 52 23 30.67 GPR135 0 genome.wustl.edu 37 14 59930509 59930509 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 14 59930509 59930509 G A SNP GPR135 ENST00000395116 human ensembl 74_37 -1 known missense c.1436 p.T479M 0.122 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR135 HGNC ENSG00000181619 tier1 - - 39 0 0.00 20 20 50.00 64 0 0.00 62 27 30.34 SEZ6L 0 genome.wustl.edu 37 22 26688805 26688805 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 22 26688805 26688805 C T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known silent c.528 p.S176 0.000 NULL 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 SEZ6L HGNC ENSG00000100095 tier1 - - 91 0 0.00 52 18 25.71 69 0 0.00 38 31 44.29 SEMA3D 0 genome.wustl.edu 37 7 84651785 84651785 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 84651785 84651785 C T SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.1336 p.D446N 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 tier1 - - 31 0 0.00 39 21 35.00 12 0 0.00 43 19 30.65 TOX3 0 genome.wustl.edu 37 16 52473616 52473616 + Missense_Mutation SNP A A T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 52473616 52473616 A T SNP TOX3 ENST00000219746 human ensembl 74_37 -1 known missense c.1252 p.S418T 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 tier1 - - 46 0 0.00 21 23 52.27 74 0 0.00 50 32 39.02 SKA3 0 genome.wustl.edu 37 13 21746492 21746492 + Missense_Mutation SNP A A T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 13 21746492 21746492 A T SNP SKA3 ENST00000314759 human ensembl 74_37 -1 known missense c.317 p.V106D 0.015 NULL NULL - no_errors SKA3 HGNC ENSG00000165480 tier1 - - 102 0 0.00 68 8 10.53 46 0 0.00 37 19 33.93 EDC3 0 genome.wustl.edu 37 15 74932873 74932873 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 74932873 74932873 C T SNP EDC3 ENST00000315127 human ensembl 74_37 -1 known missense c.908 p.R303Q 1.000 pfam_YjeF_N_dom,superfamily_YjeF_N_dom pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom - no_errors EDC3 HGNC ENSG00000179151 tier1 - - 29 0 0.00 27 17 38.64 52 0 0.00 44 20 31.25 PITPNM2 0 genome.wustl.edu 37 12 123489025 123489025 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 123489025 123489025 G A SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known missense c.964 p.R322C 1.000 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 tier1 - - 38 0 0.00 27 5 15.62 48 0 0.00 39 25 39.06 CAMTA2 0 genome.wustl.edu 37 17 4875806 4875806 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 4875806 4875806 C T SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known silent c.2598 p.S866 0.623 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 tier1 - - 17 0 0.00 19 11 36.67 20 0 0.00 20 16 44.44 ST6GAL1 0 genome.wustl.edu 37 3 186760953 186760953 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 186760953 186760953 G A SNP ST6GAL1 ENST00000169298 human ensembl 74_37 +1 known silent c.462 p.E154 0.992 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GAL1 HGNC ENSG00000073849 tier1 - - 24 0 0.00 24 11 31.43 45 0 0.00 48 9 15.52 FBLN1 0 genome.wustl.edu 37 22 45938049 45938049 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 22 45938049 45938049 G A SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known missense c.1081 p.A361T 0.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Fibulin-1,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 tier1 - - 36 0 0.00 40 16 28.57 59 0 0.00 61 26 29.89 NKD1 0 genome.wustl.edu 37 16 50666204 50666204 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 50666204 50666204 C T SNP NKD1 ENST00000268459 human ensembl 74_37 +1 known silent c.708 p.D236 0.998 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 tier1 - - 32 0 0.00 25 6 19.35 34 0 0.00 41 22 34.38 ANKRD13B 0 genome.wustl.edu 37 17 27935228 27935228 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 27935228 27935228 G A SNP ANKRD13B ENST00000394859 human ensembl 74_37 +1 known missense c.391 p.V131M 1.000 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 tier1 - - 64 0 0.00 19 13 40.62 91 0 0.00 64 31 32.29 FAM105B 0 genome.wustl.edu 37 5 14692978 14692978 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 14692978 14692978 C T SNP FAM105B ENST00000284274 human ensembl 74_37 +1 known missense c.880 p.L294F 1.000 prints_FAM105 prints_FAM105,prints_FAM105B,prints_FAM105A - no_errors FAM105B HGNC ENSG00000154124 tier1 - - 28 0 0.00 25 15 37.50 42 0 0.00 60 23 27.71 RARS 0 genome.wustl.edu 37 5 167946112 167946112 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 167946112 167946112 C T SNP RARS ENST00000231572 human ensembl 74_37 +1 known missense c.1900 p.R634C 1.000 pfam_DALR_anticod-bd,superfamily_tRsynth_1a_anticodon-bd,smart_DALR_anticod-bd,tigrfam_Arg-tR-ligase_Ia pfam_Arg-tR-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tR-synth_N,superfamily_tRsynth_1a_anticodon-bd,superfamily_Arg-tR-synth_N,smart_DALR_anticod-bd,prints_Arg-tR-synth_Ia_core,tigrfam_Arg-tR-ligase_Ia - no_errors RARS HGNC ENSG00000113643 tier1 - - 85 0 0.00 83 15 15.15 59 0 0.00 79 21 21.00 MYO16 0 genome.wustl.edu 37 13 109779832 109779832 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 13 109779832 109779832 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.3919 p.R1307W 0.983 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 114 0 0.00 33 21 38.89 53 0 0.00 48 13 21.31 DNMT3A 0 genome.wustl.edu 37 2 25464487 25464487 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 25464487 25464487 G A SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known missense c.2026 p.R676W 1.000 pfam_C5_MeTfrase pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 tier1 - - 13 0 0.00 14 10 41.67 29 0 0.00 17 9 34.62 MYO10 0 genome.wustl.edu 37 5 16670877 16670877 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 16670877 16670877 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.5641 p.R1881W 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 tier1 - - 29 0 0.00 28 7 19.44 55 0 0.00 80 14 14.89 MPZL1 0 genome.wustl.edu 37 1 167745358 167745358 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 167745358 167745358 C T SNP MPZL1 ENST00000359523 human ensembl 74_37 +1 known silent c.663 p.S221 0.997 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors MPZL1 HGNC ENSG00000197965 tier1 - - 43 0 0.00 31 15 32.61 51 0 0.00 52 9 14.75 BAIAP2 0 genome.wustl.edu 37 17 79027510 79027510 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 79027510 79027510 G A SNP BAIAP2 ENST00000321300 human ensembl 74_37 +1 known missense c.97 p.A33T 1.000 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2 HGNC ENSG00000175866 tier1 - - 49 0 0.00 54 12 17.91 73 0 0.00 60 14 18.92 COL7A1 0 genome.wustl.edu 37 3 48626118 48626118 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 48626118 48626118 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.2544 p.V848 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 tier1 rs139545952 GMAF=0.0005 26 0 0.00 21 13 38.24 20 0 0.00 31 15 32.61 PDE4B 0 genome.wustl.edu 37 1 66834587 66834587 + Silent SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 66834587 66834587 C A SNP PDE4B ENST00000329654 human ensembl 74_37 +1 known silent c.1780 p.R594 0.998 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 tier1 - - 50 0 0.00 36 25 40.98 56 0 0.00 51 38 42.70 TLN1 0 genome.wustl.edu 37 9 35705597 35705597 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 9 35705597 35705597 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.5684 p.R1895H 0.971 pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 tier1 - - 37 0 0.00 17 11 39.29 37 0 0.00 27 3 10.00 CSPG5 0 genome.wustl.edu 37 3 47618363 47618363 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 47618363 47618363 C T SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known missense c.1153 p.G385S 1.000 NULL pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 tier1 - - 27 0 0.00 20 15 42.86 56 0 0.00 48 19 28.36 BDH2 0 genome.wustl.edu 37 4 104012389 104012389 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 4 104012389 104012389 G A SNP BDH2 ENST00000296424 human ensembl 74_37 -1 known missense c.302 p.S101L 1.000 pfam_DH_sc/Rdtase_SDR,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors BDH2 HGNC ENSG00000164039 tier1 - - 30 0 0.00 33 4 10.81 68 0 0.00 54 11 16.67 TFCP2L1 0 genome.wustl.edu 37 2 122000043 122000043 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 122000043 122000043 C T SNP TFCP2L1 ENST00000263707 human ensembl 74_37 -1 known silent c.660 p.P220 0.294 pfam_CP2 pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC ENSG00000115112 tier1 - - 28 0 0.00 33 4 10.81 55 0 0.00 59 8 11.94 AHK2 0 genome.wustl.edu 37 14 105415468 105415468 + Missense_Mutation SNP A A G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 14 105415468 105415468 A G SNP AHK2 ENST00000333244 human ensembl 74_37 -1 known missense c.6320 p.M2107T 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK2 HGNC ENSG00000185567 tier1 - - 70 0 0.00 68 14 17.07 20 0 0.00 32 5 13.51 NEK10 0 genome.wustl.edu 37 3 27216186 27216186 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 27216186 27216186 C T SNP NEK10 ENST00000383771 human ensembl 74_37 -1 known missense c.580 p.E194K 0.880 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors NEK10 HGNC ENSG00000163491 tier1 - - 20 0 0.00 36 16 30.77 45 0 0.00 55 37 40.22 ZFPM2 0 genome.wustl.edu 37 8 106813689 106813689 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 106813689 106813689 C T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.1379 p.T460I 0.175 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 45 0 0.00 39 14 26.42 63 0 0.00 56 24 30.00 PRRC2B 0 genome.wustl.edu 37 9 134360348 134360348 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 9 134360348 134360348 G A SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.5579 p.R1860H 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 - - 45 0 0.00 34 16 32.00 49 1 1.96 28 22 44.00 CD99 0 genome.wustl.edu 37 X 2651511 2651511 + R SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 2651511 2651511 G A SNP CD99 ENST00000482405 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD99 HGNC ENSG00000002586 tier1 - - 99 0 0.00 58 37 38.14 61 0 0.00 57 35 38.04 SLC4A5 0 genome.wustl.edu 37 2 74492351 74492351 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 74492351 74492351 G A SNP SLC4A5 ENST00000357822 human ensembl 74_37 -1 known missense c.442 p.R148C 0.999 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 tier1 - - 39 0 0.00 35 9 20.45 54 0 0.00 46 25 35.21 CDC45 0 genome.wustl.edu 37 22 19481886 19481886 + Nonsense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 22 19481886 19481886 C T SNP CDC45 ENST00000437685 human ensembl 74_37 +1 known nonsense c.523 p.R175* 0.882 pfam_CDC45 pfam_CDC45 - no_errors CDC45 HGNC ENSG00000093009 tier1 - - 43 0 0.00 52 9 14.75 30 0 0.00 38 5 11.63 IL9R 0 genome.wustl.edu 37 X 155239605 155239605 + Missense_Mutation SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 155239605 155239605 C A SNP IL9R ENST00000244174 human ensembl 74_37 +1 known missense c.1097 p.P366H 0.003 NULL superfamily_Fibronectin_type3 - no_errors IL9R HGNC ENSG00000124334 tier1 - - 182 0 0.00 175 33 15.87 33 0 0.00 33 4 10.81 RGMA 0 genome.wustl.edu 37 15 93588731 93588731 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 93588731 93588731 G A SNP RGMA ENST00000329082 human ensembl 74_37 -1 known missense c.850 p.R284C 1.000 pfam_RGM_C pfam_RGM_N,pfam_RGM_C - no_errors RGMA HGNC ENSG00000182175 tier1 - - 39 0 0.00 26 10 27.03 21 0 0.00 22 3 12.00 KRT20 0 genome.wustl.edu 37 17 39041314 39041314 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 39041314 39041314 G A SNP KRT20 ENST00000167588 human ensembl 74_37 -1 known missense c.124 p.R42W 0.000 NULL pfam_IF,prints_Keratin_I - no_errors KRT20 HGNC ENSG00000171431 tier1 - - 41 0 0.00 26 22 45.83 40 0 0.00 26 25 49.02 TUBA3D 0 genome.wustl.edu 37 2 132238232 132238232 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 132238232 132238232 C T SNP TUBA3D ENST00000321253 human ensembl 74_37 +1 known silent c.966 p.D322 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 tier1 - - 54 0 0.00 30 28 48.28 16 0 0.00 15 2 11.76 APOBR 0 genome.wustl.edu 37 16 28508991 28508991 + Missense_Mutation SNP C C G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 28508991 28508991 C G SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.2629 p.L877V 0.028 NULL NULL - no_errors APOBR HGNC ENSG00000184730 tier1 - - 82 0 0.00 45 29 39.19 35 0 0.00 28 10 26.32 GNB2 0 genome.wustl.edu 37 7 100276034 100276034 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 100276034 100276034 G A SNP GNB2 ENST00000303210 human ensembl 74_37 +1 known missense c.713 p.G238D 1.000 pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB2 HGNC ENSG00000172354 tier1 - - 32 0 0.00 22 12 35.29 19 0 0.00 19 12 38.71 PRDM7 0 genome.wustl.edu 37 16 90128855 90128855 + Silent SNP A A T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 90128855 90128855 A T SNP PRDM7 ENST00000449207 human ensembl 74_37 -1 known silent c.564 p.G188 0.001 pfam_SSXRD_motif pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_SET_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM7 HGNC ENSG00000126856 tier1 - - 46 0 0.00 67 9 11.84 31 0 0.00 29 7 19.44 MYH9 0 genome.wustl.edu 37 22 36689835 36689835 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 22 36689835 36689835 G A SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known silent c.3912 p.S1304 0.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 tier1 - - 58 0 0.00 41 12 22.64 28 0 0.00 27 5 15.62 FGF3 0 genome.wustl.edu 37 11 69625282 69625282 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 69625282 69625282 G A SNP FGF3 ENST00000334134 human ensembl 74_37 -1 known missense c.511 p.R171C 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF3 HGNC ENSG00000186895 tier1 - - 130 0 0.00 73 48 39.67 32 0 0.00 18 10 35.71 CCDC135 0 genome.wustl.edu 37 16 57761251 57761251 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 57761251 57761251 C T SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.2126 p.A709V 0.046 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 tier1 rs147667972 - 58 0 0.00 29 23 44.23 56 0 0.00 45 25 35.71 FAT1 0 genome.wustl.edu 37 4 187540247 187540247 + Missense_Mutation SNP T T A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 4 187540247 187540247 T A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.7493 p.E2498V 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 26 0 0.00 27 14 34.15 62 0 0.00 75 44 36.97 SLC13A3 0 genome.wustl.edu 37 20 45212110 45212110 + R SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 20 45212110 45212110 C T SNP SLC13A3 ENST00000464518 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC13A3 HGNC ENSG00000158296 tier1 - - 15 0 0.00 6 5 45.45 35 0 0.00 34 16 32.00 C5 0 genome.wustl.edu 37 9 123794394 123794394 + Missense_Mutation SNP A A G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 9 123794394 123794394 A G SNP C5 ENST00000223642 human ensembl 74_37 -1 known missense c.664 p.Y222H 1.000 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 tier1 - - 32 0 0.00 43 6 12.24 62 0 0.00 99 24 19.51 CHN2 0 genome.wustl.edu 37 7 29438038 29438038 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 29438038 29438038 G A SNP CHN2 ENST00000539406 human ensembl 74_37 +1 known missense c.451 p.V151M 0.855 pfam_SH2,smart_SH2,pfscan_SH2 pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN2 HGNC ENSG00000106069 tier1 - - 16 0 0.00 19 13 40.62 37 0 0.00 29 24 45.28 SLC12A2 0 genome.wustl.edu 37 5 127520487 127520487 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 127520487 127520487 C T SNP SLC12A2 ENST00000262461 human ensembl 74_37 +1 known missense c.3442 p.R1148W 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 tier1 - - 68 0 0.00 73 25 25.51 29 0 0.00 61 22 26.51 SPHK2 0 genome.wustl.edu 37 19 49132438 49132438 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 49132438 49132438 G A SNP SPHK2 ENST00000443164 human ensembl 74_37 +1 known missense c.1559 p.G520D 0.863 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 tier1 - - 78 0 0.00 71 7 8.97 25 0 0.00 26 4 13.33 SHANK2 0 genome.wustl.edu 37 11 70332268 70332268 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 70332268 70332268 G A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.4133 p.A1378V 0.492 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 tier1 - - 45 0 0.00 18 18 50.00 34 0 0.00 14 12 46.15 SNX8 0 genome.wustl.edu 37 7 2296591 2296591 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 2296591 2296591 G A SNP SNX8 ENST00000222990 human ensembl 74_37 -1 known missense c.1202 p.T401M 0.995 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 tier1 - - 62 0 0.00 51 31 37.80 54 0 0.00 29 28 49.12 OLFML3 0 genome.wustl.edu 37 1 114523089 114523089 + Missense_Mutation SNP T T G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 114523089 114523089 T G SNP OLFML3 ENST00000320334 human ensembl 74_37 +1 known missense c.250 p.S84A 0.166 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML3 HGNC ENSG00000116774 tier1 - - 41 0 0.00 21 14 40.00 50 0 0.00 33 20 37.74 TP53 0 genome.wustl.edu 37 17 7579414 7579414 + Nonsense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 7579414 7579414 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.273 p.W91* 1.000 NULL pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 53 0 0.00 41 13 24.07 60 0 0.00 44 21 32.31 ATXN7L1 0 genome.wustl.edu 37 7 105254570 105254570 + Silent SNP T T C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 105254570 105254570 T C SNP ATXN7L1 ENST00000419735 human ensembl 74_37 -1 known silent c.2211 p.G737 0.994 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ENSG00000146776 tier1 - - 20 0 0.00 15 5 25.00 22 0 0.00 10 5 33.33 TCOF1 0 genome.wustl.edu 37 5 149769450 149769450 + Missense_Mutation SNP G G C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 149769450 149769450 G C SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known missense c.3158 p.G1053A 0.093 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 tier1 - - 32 0 0.00 52 14 21.21 42 0 0.00 73 20 21.51 SCN11A 0 genome.wustl.edu 37 3 38938441 38938441 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 38938441 38938441 G A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known silent c.2298 p.C766 0.942 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 rs202104116 - 26 0 0.00 27 21 43.75 50 1 1.96 45 29 39.19 AARS2 0 genome.wustl.edu 37 6 44271108 44271108 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 44271108 44271108 G A SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.2060 p.A687V 0.495 superfamily_Thr/Ala-tR-synth_IIc_edit,pfscan_Ala-tR-synth_IIc_core,tigrfam_Ala-tR-lgiase_IIc pfam_Ala-tR-synth_IIc_N,pfam_tR_SAD,superfamily_Ala-tR-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tR-synth_IIc_edit,smart_tR_SAD,prints_Ala-tR-lgiase_IIc,pfscan_Ala-tR-synth_IIc_core,tigrfam_Ala-tR-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 tier1 - - 30 0 0.00 24 4 14.29 11 0 0.00 11 4 26.67 BMPER 0 genome.wustl.edu 37 7 34094854 34094854 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 34094854 34094854 G A SNP BMPER ENST00000297161 human ensembl 74_37 +1 known missense c.866 p.C289Y 1.000 smart_VWF_C pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 tier1 - - 57 0 0.00 38 22 36.67 64 0 0.00 47 28 37.33 KRT85 0 genome.wustl.edu 37 12 52757866 52757866 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 52757866 52757866 G A SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known missense c.772 p.R258C 0.125 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 tier1 - - 21 0 0.00 11 7 38.89 59 0 0.00 38 18 32.14 TENM2 0 genome.wustl.edu 37 5 167517646 167517646 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 167517646 167517646 G A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.1583 p.R528Q 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 62 0 0.00 66 20 23.26 48 0 0.00 113 14 10.94 T10 0 genome.wustl.edu 37 11 34156835 34156835 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 34156835 34156835 C T SNP T10 ENST00000257829 human ensembl 74_37 +1 known silent c.2025 p.S675 0.864 superfamily_Acyl_CoA_acyltransferase,pfscan_GT_dom pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GT_dom - no_errors T10 HGNC ENSG00000135372 tier1 - - 32 0 0.00 30 10 25.00 88 0 0.00 82 40 32.79 ZNF567 0 genome.wustl.edu 37 19 37211253 37211253 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 37211253 37211253 C T SNP ZNF567 ENST00000536254 human ensembl 74_37 +1 known missense c.1627 p.R543C 0.055 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 ZNF567 HGNC ENSG00000189042 tier1 rs201636823 - 30 0 0.00 22 21 48.84 39 0 0.00 48 22 31.43 SULF1 0 genome.wustl.edu 37 8 70539472 70539472 + Missense_Mutation SNP C C G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 70539472 70539472 C G SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1878 p.I626M 1.000 pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 90 0 0.00 63 14 18.18 81 0 0.00 76 11 12.50 OR4S1 0 genome.wustl.edu 37 11 48328423 48328423 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 48328423 48328423 G A SNP OR4S1 ENST00000319988 human ensembl 74_37 +1 known missense c.649 p.V217I 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S1 HGNC ENSG00000176555 tier1 - - 38 0 0.00 28 22 44.00 66 0 0.00 40 22 35.48 TMEM260 0 genome.wustl.edu 37 14 57046751 57046751 + Missense_Mutation SNP T T A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 14 57046751 57046751 T A SNP TMEM260 ENST00000261556 human ensembl 74_37 +1 known missense c.119 p.F40Y 0.919 NULL pfam_DUF2723 - no_errors TMEM260 HGNC ENSG00000070269 tier1 - - 111 0 0.00 42 15 26.32 21 0 0.00 17 6 25.00 COL14A1 0 genome.wustl.edu 37 8 121301939 121301939 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 121301939 121301939 G A SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known silent c.4170 p.T1390 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 tier1 rs143025238 - 56 0 0.00 78 22 22.00 90 1 1.10 108 24 18.18 SMAD5-AS1 0 genome.wustl.edu 37 5 135469548 135469548 + R SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 135469548 135469548 C T SNP SMAD5-AS1 ENST00000297163 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors SMAD5-AS1 HGNC ENSG00000164621 tier1 - - 112 0 0.00 102 43 29.66 121 0 0.00 74 31 29.52 NT5C1B 0 genome.wustl.edu 37 2 18767589 18767589 + Silent SNP T T C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 18767589 18767589 T C SNP NT5C1B ENST00000359846 human ensembl 74_37 -1 known silent c.369 p.R123 0.119 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 tier1 - - 54 0 0.00 65 19 22.62 64 0 0.00 59 9 13.04 SYK 0 genome.wustl.edu 37 9 93650108 93650108 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 9 93650108 93650108 C T SNP SYK ENST00000375746 human ensembl 74_37 +1 known silent c.1659 p.S553 0.974 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,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 tier1 rs141667926 - 47 0 0.00 32 26 44.83 34 0 0.00 28 11 28.21 SCAF4 0 genome.wustl.edu 37 21 33073423 33073423 + Missense_Mutation SNP T T C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 21 33073423 33073423 T C SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.662 p.N221S 1.000 NULL pfam_R_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 tier1 - - 94 0 0.00 73 31 29.81 57 0 0.00 54 26 32.50 QPRT 0 genome.wustl.edu 37 16 29690479 29690479 + R SNP T T C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 29690479 29690479 T C SNP QPRT ENST00000219771 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors QPRT HGNC ENSG00000103485 tier1 - - 87 0 0.00 67 12 15.19 40 0 0.00 30 5 14.29 POU6F1 0 genome.wustl.edu 37 12 51585487 51585487 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 51585487 51585487 G A SNP POU6F1 ENST00000333640 human ensembl 74_37 -1 known missense c.452 p.A151V 1.000 pfam_POU_specific,superfamily_Lambda_D-bd_dom,smart_POU_specific,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F1 HGNC ENSG00000184271 tier1 - - 75 0 0.00 76 20 20.83 56 0 0.00 43 20 31.75 LIMK1 0 genome.wustl.edu 37 7 73511493 73511493 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 73511493 73511493 G A SNP LIMK1 ENST00000336180 human ensembl 74_37 +1 known silent c.375 p.T125 0.022 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 tier1 - - 29 0 0.00 24 14 36.84 55 0 0.00 41 24 36.92 SMR3A 0 genome.wustl.edu 37 4 71232706 71232706 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 4 71232706 71232706 C T SNP SMR3A ENST00000226460 human ensembl 74_37 +1 known missense c.400 p.P134S 0.010 NULL NULL - no_errors SMR3A HGNC ENSG00000109208 tier1 - - 23 0 0.00 32 12 27.27 35 0 0.00 43 16 27.12 PXT1 0 genome.wustl.edu 37 6 36359632 36359632 + Missense_Mutation SNP C C G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 36359632 36359632 C G SNP PXT1 ENST00000454782 human ensembl 74_37 -1 putative missense c.320 p.R107T 0.062 NULL NULL - no_errors PXT1 HGNC ENSG00000179165 tier1 - - 112 0 0.00 90 51 36.17 20 0 0.00 23 10 30.30 ATP7B 0 genome.wustl.edu 37 13 52511712 52511712 + Missense_Mutation SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 13 52511712 52511712 C A SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.3803 p.G1268V 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 tier1 - - 61 0 0.00 27 7 20.59 60 0 0.00 42 8 16.00 MST1R 0 genome.wustl.edu 37 3 49928639 49928639 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 49928639 49928639 C T SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.3635 p.R1212Q 1.000 pirsf_Tyr_kinase_HGF/MSP_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_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 tier1 - - 11 0 0.00 13 6 31.58 25 0 0.00 27 6 18.18 NOC4L 0 genome.wustl.edu 37 12 132636680 132636680 + Missense_Mutation SNP A A G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 132636680 132636680 A G SNP NOC4L ENST00000330579 human ensembl 74_37 +1 known missense c.1369 p.N457D 1.000 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 tier1 - - 43 0 0.00 46 8 14.81 8 0 0.00 11 6 35.29 STRADB 0 genome.wustl.edu 37 2 202339398 202339398 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 202339398 202339398 G A SNP STRADB ENST00000194530 human ensembl 74_37 +1 known missense c.344 p.R115Q 0.996 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors STRADB HGNC ENSG00000082146 tier1 - - 89 0 0.00 75 7 8.54 22 0 0.00 27 6 18.18 SYN3 0 genome.wustl.edu 37 22 32909719 32909719 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 22 32909719 32909719 C T SNP SYN3 ENST00000332840 human ensembl 74_37 -1 known missense c.1703 p.R568H 1.000 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 tier1 - - 29 0 0.00 17 13 43.33 73 0 0.00 69 42 37.84 LIPJ 0 genome.wustl.edu 37 10 90365424 90365424 + Missense_Mutation SNP G G T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 90365424 90365424 G T SNP LIPJ ENST00000371939 human ensembl 74_37 +1 known missense c.830 p.W277L 0.998 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPJ HGNC ENSG00000204022 tier1 - - 39 0 0.00 21 17 44.74 33 0 0.00 26 14 35.00 PRSS41 0 genome.wustl.edu 37 16 2855011 2855011 + R SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 2855011 2855011 C T SNP PRSS41 ENST00000399677 human ensembl 74_37 +1 known rna NULL NULL 0.229 - - - no_errors PRSS41 HGNC ENSG00000215148 tier1 - - 68 0 0.00 56 21 27.27 89 0 0.00 77 39 33.62 ZC3H13 0 genome.wustl.edu 37 13 46543874 46543874 + Missense_Mutation SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 13 46543874 46543874 C A SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.2805 p.Q935H 0.896 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 tier1 - - 32 0 0.00 30 7 18.92 33 0 0.00 32 14 30.43 TMEM51-AS1 0 genome.wustl.edu 37 1 15478798 15478798 + R SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 15478798 15478798 C T SNP TMEM51-AS1 ENST00000310916 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TMEM51-AS1 HGNC ENSG00000175147 tier1 - - 84 0 0.00 44 33 42.86 64 0 0.00 48 22 31.43 NYX 0 genome.wustl.edu 37 X 41331557 41331557 + R SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 41331557 41331557 G A SNP NYX ENST00000486842 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NYX HGNC ENSG00000188937 tier1 - - 11 0 0.00 19 7 25.93 10 0 0.00 12 4 25.00 HSD11B1 0 genome.wustl.edu 37 1 209880054 209880054 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 209880054 209880054 G A SNP HSD11B1 ENST00000261465 human ensembl 74_37 +1 known missense c.220 p.V74M 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD11B1 HGNC ENSG00000117594 tier1 - - 24 0 0.00 47 7 12.96 24 0 0.00 49 11 18.33 C10orf54 0 genome.wustl.edu 37 10 73512760 73512760 + Splice_Site SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 73512760 73512760 C A SNP C10orf54 ENST00000394957 human ensembl 74_37 -1 known splice_site c.677-1 e5-1 1.000 - - - no_errors C10orf54 HGNC ENSG00000107738 tier1 - - 80 0 0.00 61 10 14.08 41 0 0.00 80 18 18.37 RHO 0 genome.wustl.edu 37 3 129249825 129249825 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 129249825 129249825 C T SNP RHO ENST00000296271 human ensembl 74_37 +1 known silent c.468 p.G156 0.791 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin - no_errors RHO HGNC ENSG00000163914 tier1 - - 34 0 0.00 24 11 31.43 34 0 0.00 29 13 30.95 THBS3 0 genome.wustl.edu 37 1 155172080 155172080 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 155172080 155172080 C T SNP THBS3 ENST00000368378 human ensembl 74_37 -1 known missense c.1070 p.G357D 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 tier1 rs200881809 - 65 0 0.00 31 21 40.38 58 0 0.00 39 24 38.10 KSR1 0 genome.wustl.edu 37 17 25932715 25932715 + Missense_Mutation SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 25932715 25932715 C A SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known missense c.1936 p.H646N 1.000 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,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 tier1 - - 43 0 0.00 27 11 28.95 48 0 0.00 23 17 42.50 VWDE 0 genome.wustl.edu 37 7 12375778 12375778 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 12375778 12375778 C T SNP VWDE ENST00000275358 human ensembl 74_37 -1 novel missense c.4643 p.R1548Q 0.984 pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_extracell,pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 tier1 - - 161 0 0.00 121 59 32.78 43 0 0.00 43 23 34.85 AEBP1 0 genome.wustl.edu 37 7 44152925 44152925 + Silent SNP T T C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 44152925 44152925 T C SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known silent c.2784 p.S928 0.856 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 tier1 - - 20 0 0.00 9 12 57.14 49 0 0.00 51 19 27.14 PCLO 0 genome.wustl.edu 37 7 82581542 82581542 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 82581542 82581542 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.8727 p.V2909 0.808 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 37 0 0.00 24 18 42.86 66 0 0.00 64 44 40.37 DROSHA 0 genome.wustl.edu 37 5 31529150 31529150 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 31529150 31529150 G A SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.17 p.T6I 0.005 NULL pfam_RNase_III_dom,pfam_dsR-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsR-bd_dom,pfscan_dsR-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 tier1 - - 49 0 0.00 41 7 14.58 88 0 0.00 84 11 11.58 WASF3 0 genome.wustl.edu 37 13 27250749 27250749 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 13 27250749 27250749 C T SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known missense c.604 p.R202C 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 tier1 - - 42 0 0.00 31 9 22.50 23 0 0.00 32 10 23.81 PCDHGB2 0 genome.wustl.edu 37 5 140739910 140739910 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 140739910 140739910 G A SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.208 p.A70T 0.050 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 tier1 - - 49 0 0.00 46 7 13.21 116 1 0.85 95 12 11.21 PDZD2 0 genome.wustl.edu 37 5 32088059 32088059 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 32088059 32088059 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.4505 p.S1502L 0.992 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 110 0 0.00 85 19 18.27 63 0 0.00 53 18 25.35 ARHGEF28 0 genome.wustl.edu 37 5 73188016 73188016 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 73188016 73188016 G A SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known missense c.3527 p.R1176H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,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 ARHGEF28 HGNC ENSG00000214944 tier1 - - 69 0 0.00 87 15 14.71 64 0 0.00 100 19 15.97 SLC41A1 0 genome.wustl.edu 37 1 205779322 205779322 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 205779322 205779322 C T SNP SLC41A1 ENST00000367137 human ensembl 74_37 -1 known missense c.248 p.R83H 0.001 NULL pfam_SLC41_membr_dom - no_errors SLC41A1 HGNC ENSG00000133065 tier1 - - 51 0 0.00 47 15 24.19 73 0 0.00 50 7 12.28 COMP 0 genome.wustl.edu 37 19 18895803 18895803 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 18895803 18895803 C T SNP COMP ENST00000222271 human ensembl 74_37 -1 known missense c.1817 p.S606N 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 tier1 - - 31 0 0.00 24 12 33.33 59 0 0.00 41 29 41.43 GLCE 0 genome.wustl.edu 37 15 69561452 69561452 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 69561452 69561452 C T SNP GLCE ENST00000261858 human ensembl 74_37 +1 known missense c.1723 p.R575C 1.000 pfam_C5-epim pfam_C5-epim - no_errors GLCE HGNC ENSG00000138604 tier1 - - 34 0 0.00 43 5 10.42 45 0 0.00 71 13 15.48 HMHA1 0 genome.wustl.edu 37 19 1080305 1080305 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 1080305 1080305 G A SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known silent c.1755 p.A585 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 tier1 - - 44 0 0.00 23 9 28.12 23 0 0.00 27 13 30.95 ENSG00000188474 0 genome.wustl.edu 37 19 12223906 12223906 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 12223906 12223906 G A SNP ENSG00000188474 ENST00000339302 human ensembl 74_37 +1 known missense c.1544 p.S515N 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF788 Uniprot_gn ENSG00000188474 tier1 - - 86 0 0.00 62 12 16.22 57 0 0.00 60 21 25.93 LRP1B 0 genome.wustl.edu 37 2 141762962 141762962 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 141762962 141762962 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.2445 p.G815 0.993 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 32 0 0.00 73 12 13.95 32 0 0.00 91 13 12.50 PCDH18 0 genome.wustl.edu 37 4 138452382 138452382 + Silent SNP A A G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 4 138452382 138452382 A G SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known silent c.861 p.S287 0.954 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 tier1 - - 36 0 0.00 60 6 9.09 43 0 0.00 72 15 17.05 R3HDM1 0 genome.wustl.edu 37 2 136396582 136396582 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 136396582 136396582 G A SNP R3HDM1 ENST00000264160 human ensembl 74_37 +1 known missense c.1109 p.R370Q 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 tier1 - - 29 0 0.00 27 8 22.86 95 1 1.03 81 13 13.83 RPAP1 0 genome.wustl.edu 37 15 41809883 41809883 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 41809883 41809883 G A SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.4039 p.R1347W 1.000 NULL pfam_R_pol_II_AP1_C,pfam_R_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 tier1 - - 39 0 0.00 25 13 34.21 62 0 0.00 62 28 31.11 ZFYVE9 0 genome.wustl.edu 37 1 52704475 52704475 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 52704475 52704475 C T SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known silent c.1386 p.F462 1.000 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 tier1 - - 75 0 0.00 61 10 14.08 40 0 0.00 74 16 17.78 MYO1C 0 genome.wustl.edu 37 17 1370618 1370618 + Missense_Mutation SNP C C G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 1370618 1370618 C G SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known missense c.3083 p.G1028A 0.997 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 tier1 - - 49 0 0.00 41 27 39.71 16 0 0.00 13 2 12.50 CPT1B 0 genome.wustl.edu 37 22 51011375 51011375 + Silent SNP G G T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 22 51011375 51011375 G T SNP CPT1B ENST00000312108 human ensembl 74_37 -1 known silent c.1281 p.S427 0.009 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 tier1 - - 36 0 0.00 29 11 27.50 60 0 0.00 43 17 28.33 DOC2A 0 genome.wustl.edu 37 16 30018553 30018553 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 30018553 30018553 G A SNP DOC2A ENST00000350119 human ensembl 74_37 -1 known missense c.595 p.R199C 1.000 superfamily_C2_dom,smart_C2_dom,pirsf_Doc2 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors DOC2A HGNC ENSG00000149927 tier1 - - 34 0 0.00 48 8 14.29 29 0 0.00 44 11 20.00 SLC7A7 0 genome.wustl.edu 37 14 23242839 23242839 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 14 23242839 23242839 G A SNP SLC7A7 ENST00000285850 human ensembl 74_37 -1 known missense c.1516 p.R506W 0.743 NULL pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A7 HGNC ENSG00000155465 tier1 rs138506427 - 34 0 0.00 14 8 36.36 66 0 0.00 58 30 34.09 SPTBN1 0 genome.wustl.edu 37 2 54855380 54855380 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 54855380 54855380 C T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known silent c.1791 p.D597 0.846 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 tier1 - - 41 0 0.00 34 17 33.33 81 0 0.00 62 28 31.11 STXBP1 0 genome.wustl.edu 37 9 130439024 130439024 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 9 130439024 130439024 G A SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known missense c.1351 p.V451I 0.996 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 tier1 rs150259704 GMAF=0.0005 10 0 0.00 11 4 26.67 34 0 0.00 39 7 15.22 CNDP2 0 genome.wustl.edu 37 18 72187269 72187269 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 18 72187269 72187269 C T SNP CNDP2 ENST00000324262 human ensembl 74_37 +1 known missense c.1394 p.A465V 0.998 pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP2 HGNC ENSG00000133313 tier1 - - 46 0 0.00 40 11 21.57 57 0 0.00 31 11 26.19 MTFR1 0 genome.wustl.edu 37 8 66594683 66594683 + Missense_Mutation SNP T T G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 66594683 66594683 T G SNP MTFR1 ENST00000262146 human ensembl 74_37 +1 known missense c.162 p.F54L 1.000 pfam_Mtfr1 pfam_Mtfr1 - no_errors MTFR1 HGNC ENSG00000066855 tier1 - - 141 0 0.00 110 40 26.67 31 0 0.00 37 20 34.48 MSL2 0 genome.wustl.edu 37 3 135870189 135870189 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 135870189 135870189 C T SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known missense c.1534 p.A512T 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 tier1 - - 31 0 0.00 16 5 23.81 48 0 0.00 52 16 23.19 PPP1R3C 0 genome.wustl.edu 37 10 93390509 93390509 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 93390509 93390509 G A SNP PPP1R3C ENST00000238994 human ensembl 74_37 -1 known silent c.129 p.Y43 0.032 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3C HGNC ENSG00000119938 tier1 rs148420815 - 49 0 0.00 38 6 13.64 80 0 0.00 68 14 17.07 RALGAPA2 0 genome.wustl.edu 37 20 20563753 20563753 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 20 20563753 20563753 G A SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.2648 p.A883V 0.998 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 tier1 - - 49 0 0.00 33 26 44.07 57 0 0.00 54 25 31.25 MAST2 0 genome.wustl.edu 37 1 46472045 46472045 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 46472045 46472045 C T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.880 p.R294W 0.999 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 tier1 - - 25 0 0.00 12 8 40.00 29 0 0.00 19 10 34.48 UBA6 0 genome.wustl.edu 37 4 68536256 68536256 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 4 68536256 68536256 C T SNP UBA6 ENST00000322244 human ensembl 74_37 -1 known missense c.601 p.D201N 1.000 superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_D_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 tier1 - - 77 0 0.00 60 26 30.23 49 0 0.00 57 29 33.72 PCDHGC5 0 genome.wustl.edu 37 5 140869033 140869033 + Missense_Mutation SNP T T C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 140869033 140869033 T C SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known missense c.226 p.S76P 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 tier1 - - 44 0 0.00 38 21 35.59 56 0 0.00 84 35 29.41 KIF17 0 genome.wustl.edu 37 1 21014288 21014288 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 21014288 21014288 C T SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known missense c.1531 p.D511N 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 tier1 - - 17 0 0.00 23 9 28.12 75 0 0.00 42 17 28.81 SFTPC 0 genome.wustl.edu 37 8 22020665 22020665 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 22020665 22020665 G A SNP SFTPC ENST00000318561 human ensembl 74_37 +1 known missense c.274 p.A92T 0.993 pfam_Surfactant_protein_propep,smart_Pulm_surfact_AP pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom - no_errors SFTPC HGNC ENSG00000168484 tier1 - - 33 0 0.00 30 11 26.83 50 0 0.00 25 17 40.48 HMCN1 0 genome.wustl.edu 37 1 186056382 186056382 + Missense_Mutation SNP T T C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 186056382 186056382 T C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.9080 p.V3027A 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 39 0 0.00 56 34 37.78 48 0 0.00 51 33 39.29 ENC1 0 genome.wustl.edu 37 5 73930729 73930729 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 73930729 73930729 G A SNP ENC1 ENST00000302351 human ensembl 74_37 -1 known missense c.1582 p.R528C 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors ENC1 HGNC ENSG00000171617 tier1 - - 33 0 0.00 27 10 27.03 41 0 0.00 51 10 16.13 MXI1 0 genome.wustl.edu 37 10 112045982 112045982 + R SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 112045982 112045982 G A SNP MXI1 ENST00000485566 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors MXI1 HGNC ENSG00000119950 tier1 - - 60 0 0.00 41 21 33.87 51 0 0.00 49 26 34.67 SARS 0 genome.wustl.edu 37 1 109777945 109777945 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 109777945 109777945 G A SNP SARS ENST00000369923 human ensembl 74_37 +1 known silent c.861 p.P287 0.205 pfam_aa-tR-synt_IIb_cons-dom,pirsf_Ser-tR-ligase_type_1,pfscan_aa-tR-synth_II,tigrfam_Ser-tR-ligase_type_1 pfam_aa-tR-synt_IIb_cons-dom,pfam_Ser-tR-synth_1_N,superfamily_tR-bd_arm,pirsf_Ser-tR-ligase_type_1,pfscan_aa-tR-synth_II,prints_Ser-tR-ligase_type_1,tigrfam_Ser-tR-ligase_type_1 - no_errors SARS HGNC ENSG00000031698 tier1 - - 28 0 0.00 14 11 44.00 23 0 0.00 11 12 52.17 CUL1 0 genome.wustl.edu 37 7 148489822 148489822 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 148489822 148489822 C T SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.1811 p.S604L 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 tier1 - - 29 0 0.00 29 9 23.68 28 0 0.00 15 9 37.50 SETD8 0 genome.wustl.edu 37 12 123889536 123889536 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 123889536 123889536 G A SNP SETD8 ENST00000330479 human ensembl 74_37 +1 known missense c.763 p.A255T 1.000 pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom - no_errors SETD8 HGNC ENSG00000183955 tier1 - - 35 0 0.00 21 13 38.24 81 1 1.22 38 5 11.63 ARID5A 0 genome.wustl.edu 37 2 97217649 97217649 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 97217649 97217649 G A SNP ARID5A ENST00000357485 human ensembl 74_37 +1 known missense c.1384 p.V462M 0.997 NULL pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID5A HGNC ENSG00000196843 tier1 - - 14 0 0.00 6 8 57.14 38 0 0.00 21 13 36.11 PTPRK 0 genome.wustl.edu 37 6 128306968 128306968 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 128306968 128306968 G A SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.3200 p.P1067L 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 tier1 - - 56 0 0.00 54 13 19.40 92 0 0.00 77 23 23.00 PNPLA8 0 genome.wustl.edu 37 7 108154649 108154649 + Missense_Mutation SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 108154649 108154649 C A SNP PNPLA8 ENST00000257694 human ensembl 74_37 -1 known missense c.1145 p.R382M 1.000 superfamily_ARM-type_fold pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 tier1 - - 72 0 0.00 51 24 32.00 61 0 0.00 53 39 41.94 H2AFY 0 genome.wustl.edu 37 5 134724634 134724634 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 134724634 134724634 G A SNP H2AFY ENST00000511689 human ensembl 74_37 -1 known silent c.150 p.A50 0.845 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 - - 51 0 0.00 47 21 30.88 76 0 0.00 50 23 31.51 ATP11A 0 genome.wustl.edu 37 13 113464952 113464952 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 13 113464952 113464952 G A SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.353 p.R118Q 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11A HGNC ENSG00000068650 tier1 - - 42 0 0.00 24 12 33.33 37 0 0.00 30 9 23.08 LOC150051 0 genome.wustl.edu 37 21 32932376 32932376 + R SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 21 32932376 32932376 C T SNP LOC150051 ENST00000433071 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AP000251.3 Clone_based_vega_gene ENSG00000237594 tier1 - - 47 0 0.00 30 7 18.42 56 0 0.00 60 14 18.92 ARHGAP11B 0 genome.wustl.edu 37 15 31042691 31042691 + R SNP A A C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 31042691 31042691 A C SNP ARHGAP11B ENST00000562954 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ARHGAP11B HGNC ENSG00000187951 tier1 - - 45 0 0.00 26 22 44.90 7 0 0.00 18 9 33.33 ARHGAP31 0 genome.wustl.edu 37 3 119134704 119134704 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 119134704 119134704 C T SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.3928 p.R1310C 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 tier1 - - 18 0 0.00 26 7 21.21 50 0 0.00 61 9 12.86 PCDHGB4 0 genome.wustl.edu 37 5 140767512 140767512 + Missense_Mutation SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 140767512 140767512 C A SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.61 p.L21M 0.041 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 tier1 - - 38 0 0.00 22 7 24.14 8 0 0.00 10 4 28.57 ARMCX4 0 genome.wustl.edu 37 X 100750085 100750085 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 100750085 100750085 G A SNP ARMCX4 ENST00000423738 human ensembl 74_37 +1 putative missense c.6509 p.R2170H 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 tier1 - - 18 0 0.00 14 17 54.84 30 0 0.00 24 20 45.45 EDEM2 0 genome.wustl.edu 37 20 33703483 33703483 + Missense_Mutation SNP T T A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 20 33703483 33703483 T A SNP EDEM2 ENST00000374492 human ensembl 74_37 -1 known missense c.1490 p.E497V 1.000 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 tier1 - - 46 0 0.00 15 15 50.00 50 0 0.00 36 26 41.94 DCTN1 0 genome.wustl.edu 37 2 74596522 74596522 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 74596522 74596522 G A SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known missense c.1489 p.R497C 0.942 superfamily_P-loop_NTPase pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 tier1 - - 13 0 0.00 9 9 50.00 64 0 0.00 44 24 35.29 C15orf27 0 genome.wustl.edu 37 15 76463371 76463371 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 76463371 76463371 C T SNP C15orf27 ENST00000388942 human ensembl 74_37 +1 known missense c.551 p.P184L 1.000 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 tier1 - - 43 0 0.00 23 20 46.51 52 0 0.00 58 18 23.68 UNC79 0 genome.wustl.edu 37 14 93940446 93940446 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 14 93940446 93940446 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.155 p.R52H 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 - - 32 0 0.00 23 18 43.90 32 0 0.00 38 12 24.00 MLLT4 0 genome.wustl.edu 37 6 168352571 168352571 + Missense_Mutation SNP T T A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 168352571 168352571 T A SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.4516 p.S1506T 0.172 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 tier1 - - 18 0 0.00 18 12 40.00 37 0 0.00 18 10 35.71 GPHA2 0 genome.wustl.edu 37 11 64702261 64702261 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 64702261 64702261 C T SNP GPHA2 ENST00000279168 human ensembl 74_37 -1 known missense c.374 p.R125H 1.000 pfam_DAN,pfscan_Cys_knot_C,pfscan_Glyco_hormone pfam_DAN,pfscan_Cys_knot_C,pfscan_Glyco_hormone - no_errors GPHA2 HGNC ENSG00000149735 tier1 - - 58 0 0.00 54 13 19.40 58 0 0.00 42 10 19.23 CCDC19 0 genome.wustl.edu 37 1 159857724 159857724 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 159857724 159857724 C T SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known silent c.495 p.L165 1.000 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 tier1 - - 53 0 0.00 49 16 24.62 76 0 0.00 84 20 19.23 PTPRS 0 genome.wustl.edu 37 19 5206828 5206828 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 5206828 5206828 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.5807 p.A1936V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 - - 54 0 0.00 29 16 35.56 96 0 0.00 69 42 37.84 ARHGEF17 0 genome.wustl.edu 37 11 73021102 73021102 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 73021102 73021102 G A SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known silent c.1419 p.T473 0.060 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 tier1 - - 110 0 0.00 73 27 27.00 71 0 0.00 67 16 19.28 BBOX1 0 genome.wustl.edu 37 11 27077051 27077051 + Missense_Mutation SNP A A G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 27077051 27077051 A G SNP BBOX1 ENST00000263182 human ensembl 74_37 +1 known missense c.74 p.E25G 0.001 pfam_DUF971,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 tier1 - - 44 0 0.00 35 11 23.91 35 0 0.00 53 13 19.70 SCN2A 0 genome.wustl.edu 37 2 166170230 166170230 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 166170230 166170230 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.1135 p.R379C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 53 0 0.00 49 21 30.00 52 0 0.00 66 35 34.65 SELL 0 genome.wustl.edu 37 1 169679644 169679644 + Missense_Mutation SNP T T G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 169679644 169679644 T G SNP SELL ENST00000236147 human ensembl 74_37 -1 known missense c.57 p.K19N 0.013 pirsf_L-selectin pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 tier1 - - 52 0 0.00 91 8 8.08 18 0 0.00 57 8 12.31 LOC100507431 0 genome.wustl.edu 37 11 130716045 130716045 + R SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 130716045 130716045 C T SNP LOC100507431 ENST00000533434 human ensembl 74_37 -1 known rna NULL NULL 0.049 - - - no_errors RP11-890B15.2 Clone_based_vega_gene ENSG00000254842 tier1 - - 150 0 0.00 102 50 32.89 59 0 0.00 55 25 31.25 KEAP1 0 genome.wustl.edu 37 19 10610476 10610476 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 10610476 10610476 G A SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known silent c.234 p.D78 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 tier1 - - 18 0 0.00 10 7 41.18 46 0 0.00 40 26 38.81 AMACR 0 genome.wustl.edu 37 5 33989126 33989126 + R SNP G G T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 33989126 33989126 G T SNP AMACR ENST00000514195 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors AMACR HGNC ENSG00000242110 tier1 - - 41 0 0.00 25 15 37.50 62 0 0.00 104 29 21.80 ALS2CL 0 genome.wustl.edu 37 3 46727052 46727052 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 46727052 46727052 C T SNP ALS2CL ENST00000318962 human ensembl 74_37 -1 known missense c.749 p.R250H 0.970 NULL pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 tier1 - - 19 0 0.00 23 18 43.90 37 0 0.00 21 14 40.00 EPB41L4A 0 genome.wustl.edu 37 5 111570402 111570402 + Missense_Mutation SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 111570402 111570402 C A SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known missense c.1016 p.R339L 1.000 pfam_FERM-adjacent pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 tier1 - - 51 0 0.00 88 14 13.73 54 0 0.00 95 14 12.73 KLHDC3 0 genome.wustl.edu 37 6 42986276 42986276 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 42986276 42986276 C T SNP KLHDC3 ENST00000326974 human ensembl 74_37 +1 known missense c.715 p.R239C 1.000 pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC ENSG00000124702 tier1 - - 18 0 0.00 20 6 23.08 41 0 0.00 20 12 37.50 CCDC41 0 genome.wustl.edu 37 12 94703716 94703716 + Missense_Mutation SNP A A G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 94703716 94703716 A G SNP CCDC41 ENST00000339839 human ensembl 74_37 -1 known missense c.1979 p.L660P 0.005 NULL NULL - no_errors CCDC41 HGNC ENSG00000173588 tier1 - - 78 0 0.00 83 40 32.52 39 0 0.00 55 27 32.93 BEX2 0 genome.wustl.edu 37 X 102564733 102564733 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 102564733 102564733 C T SNP BEX2 ENST00000536889 human ensembl 74_37 -1 known missense c.268 p.V90I 0.034 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors BEX2 HGNC ENSG00000133134 tier1 - - 19 0 0.00 12 15 55.56 20 0 0.00 12 12 50.00 WNK3 0 genome.wustl.edu 37 X 54275146 54275146 + Missense_Mutation SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 54275146 54275146 C A SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.3635 p.S1212I 1.000 NULL pfam_Prot_kinase_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_dom - no_errors WNK3 HGNC ENSG00000196632 tier1 - - 61 0 0.00 58 24 29.27 23 0 0.00 37 17 31.48 CEP350 0 genome.wustl.edu 37 1 180010302 180010302 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 180010302 180010302 G A SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known silent c.4140 p.L1380 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 tier1 - - 69 0 0.00 46 31 39.24 37 0 0.00 42 12 22.22 ZDHHC3 0 genome.wustl.edu 37 3 44968199 44968199 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 44968199 44968199 C T SNP ZDHHC3 ENST00000296127 human ensembl 74_37 -1 known silent c.966 p.P322 0.998 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC3 HGNC ENSG00000163812 tier1 - - 50 0 0.00 34 20 37.04 83 0 0.00 56 33 37.08 CEP72 0 genome.wustl.edu 37 5 639252 639252 + Nonsense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 639252 639252 C T SNP CEP72 ENST00000264935 human ensembl 74_37 +1 known nonsense c.1255 p.Q419* 0.099 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC ENSG00000112877 tier1 - - 35 0 0.00 24 12 33.33 12 0 0.00 14 3 17.65 EPHA3 0 genome.wustl.edu 37 3 89391179 89391179 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 89391179 89391179 G A SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known silent c.1245 p.V415 0.994 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,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 EPHA3 HGNC ENSG00000044524 tier1 - - 24 0 0.00 21 7 25.00 58 0 0.00 36 30 45.45 GPD2 0 genome.wustl.edu 37 2 157414067 157414067 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 157414067 157414067 C T SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known missense c.1138 p.R380C 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 tier1 - - 28 0 0.00 29 6 17.14 55 0 0.00 66 13 16.25 NLGN3 0 genome.wustl.edu 37 X 70389119 70389119 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 70389119 70389119 G A SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known silent c.1719 p.P573 0.573 pfam_CarbesteraseB,prints_Neuroligin pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 tier1 - - 39 0 0.00 42 31 42.47 42 0 0.00 35 21 37.50 SMPD2 0 genome.wustl.edu 37 6 109764231 109764231 + Nonsense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 109764231 109764231 C T SNP SMPD2 ENST00000258052 human ensembl 74_37 +1 known nonsense c.676 p.Q226* 0.002 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD2 HGNC ENSG00000135587 tier1 - - 25 0 0.00 9 4 30.77 112 0 0.00 52 36 40.91 HNF1A 0 genome.wustl.edu 37 12 121432065 121432065 + Missense_Mutation SNP G G T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 121432065 121432065 G T SNP HNF1A ENST00000257555 human ensembl 74_37 +1 known missense c.812 p.R271L 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 tier1 - - 35 0 0.00 28 10 26.32 59 0 0.00 55 8 12.70 CELA2A 0 genome.wustl.edu 37 1 15788100 15788100 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 15788100 15788100 C T SNP CELA2A ENST00000359621 human ensembl 74_37 +1 known silent c.174 p.C58 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA2A HGNC ENSG00000142615 tier1 - - 63 0 0.00 50 9 15.25 23 0 0.00 16 4 20.00 TADA1 0 genome.wustl.edu 37 1 166826839 166826839 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 166826839 166826839 G A SNP TADA1 ENST00000367874 human ensembl 74_37 -1 known missense c.973 p.R325C 1.000 NULL superfamily_Histone-fold - no_errors TADA1 HGNC ENSG00000152382 tier1 rs200689473 - 37 0 0.00 33 15 31.25 64 0 0.00 61 17 21.52 TOMM40 0 genome.wustl.edu 37 19 45404610 45404610 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 45404610 45404610 G A SNP TOMM40 ENST00000592434 human ensembl 74_37 +1 known silent c.989 p.*330 0.551 NULL pfam_Porin_Euk/Tom40 - no_errors TOMM40 HGNC ENSG00000130204 tier1 - - 42 0 0.00 33 5 13.16 72 0 0.00 52 25 32.47 WBP4 0 genome.wustl.edu 37 13 41656910 41656910 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 13 41656910 41656910 G A SNP WBP4 ENST00000379487 human ensembl 74_37 +1 known missense c.991 p.G331R 0.135 NULL pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin - no_errors WBP4 HGNC ENSG00000120688 tier1 - - 54 0 0.00 30 23 43.40 70 0 0.00 59 33 35.48 ART1 0 genome.wustl.edu 37 11 3681429 3681429 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 3681429 3681429 C T SNP ART1 ENST00000250693 human ensembl 74_37 +1 known missense c.680 p.A227V 0.011 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART1 HGNC ENSG00000129744 tier1 - - 55 0 0.00 35 28 44.44 64 0 0.00 38 20 34.48 AMT 0 genome.wustl.edu 37 3 49459733 49459733 + R SNP G G T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 49459733 49459733 G T SNP AMT ENST00000487589 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AMT HGNC ENSG00000145020 tier1 - - 36 0 0.00 31 7 18.42 15 0 0.00 10 2 16.67 CMTR2 0 genome.wustl.edu 37 16 71318037 71318037 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 71318037 71318037 G A SNP CMTR2 ENST00000338099 human ensembl 74_37 -1 known missense c.1787 p.P596L 0.001 NULL pfam_rR_MeTrfase_FtsJ_dom - no_errors CMTR2 HGNC ENSG00000180917 tier1 rs189091912 GMAF=0.0005 50 0 0.00 42 24 36.36 49 0 0.00 47 20 29.85 CA2 0 genome.wustl.edu 37 8 86392969 86392969 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 86392969 86392969 G A SNP CA2 ENST00000285379 human ensembl 74_37 +1 known missense c.734 p.R245H 0.998 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA2 HGNC ENSG00000104267 tier1 - - 40 0 0.00 41 6 12.77 68 0 0.00 58 9 13.43 PSD2 0 genome.wustl.edu 37 5 139216768 139216768 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 139216768 139216768 G A SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known missense c.1610 p.R537H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 tier1 - - 69 0 0.00 56 26 31.71 67 0 0.00 66 31 31.96 SLC12A4 0 genome.wustl.edu 37 16 67985101 67985101 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 67985101 67985101 G A SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known silent c.1245 p.V415 0.597 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 tier1 - - 10 0 0.00 7 10 58.82 46 0 0.00 38 25 39.06 LRRTM1 0 genome.wustl.edu 37 2 80529882 80529882 + Missense_Mutation SNP C C G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 80529882 80529882 C G SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.1063 p.D355H 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 tier1 - - 39 0 0.00 15 6 28.57 9 0 0.00 15 4 21.05 KLRF2 0 genome.wustl.edu 37 12 10041363 10041363 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 10041363 10041363 C T SNP KLRF2 ENST00000535540 human ensembl 74_37 +1 known silent c.201 p.N67 0.274 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors KLRF2 HGNC ENSG00000256797 tier1 - - 62 0 0.00 58 37 38.95 73 1 1.35 63 17 20.73 DDX10 0 genome.wustl.edu 37 11 108788634 108788635 + In_Frame_Ins INS - - TGA TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - TGA - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 108788634 108788635 - TGA INS DDX10 ENST00000322536 human ensembl 74_37 +1 known in_frame_ins c.2339_2340 p.784in_frame_insD 1.000:0.998 NULL pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 tier1 38 0 0.00 27 9 25.00 3 0 0.00 15 2 11.76 ENO4 0 genome.wustl.edu 37 10 118618628 118618628 + Frame_Shift_Del DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 118618628 118618628 A - DEL ENO4 ENST00000341276 human ensembl 74_37 +1 known frame_shift_del c.616 p.K208fs 0.942 NULL pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 tier1 113 0 0.00 73 32 30.48 93 0 0.00 60 27 31.03 SCAMP1 0 genome.wustl.edu 37 5 77684680 77684680 + Frame_Shift_Del DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 77684680 77684680 T - DEL SCAMP1 ENST00000538629 human ensembl 74_37 +1 known frame_shift_del c.77 p.V26fs 1.000 NULL pfam_SCAMP - no_errors SCAMP1 HGNC ENSG00000085365 tier1 159 0 0.00 136 43 24.02 38 0 0.00 48 19 28.36 C3orf20 0 genome.wustl.edu 37 3 14724444 14724444 + Frame_Shift_Del DEL C C - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 14724444 14724444 C - DEL C3orf20 ENST00000253697 human ensembl 74_37 +1 known frame_shift_del c.224 p.L77fs 0.006 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 tier1 38 0 0.00 21 5 19.23 63 0 0.00 53 9 14.52 KIRREL 0 genome.wustl.edu 37 1 158058203 158058203 + Frame_Shift_Del DEL C C - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 158058203 158058203 C - DEL KIRREL ENST00000368173 human ensembl 74_37 +1 known frame_shift_del c.1003 p.L337fs 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 tier1 109 0 0.00 94 13 12.15 71 0 0.00 67 20 22.99 EXOC2 0 genome.wustl.edu 37 6 637794 637794 + Frame_Shift_Del DEL G G - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 637794 637794 G - DEL EXOC2 ENST00000230449 human ensembl 74_37 -1 known frame_shift_del c.25 p.V10fs 0.974 pfam_IPT,superfamily_Ig_E-set pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 tier1 40 0 0.00 39 7 15.22 80 0 0.00 69 14 16.87 CDH10 0 genome.wustl.edu 37 5 24488218 24488219 + Frame_Shift_Ins INS - - T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 24488218 24488219 - T INS CDH10 ENST00000264463 human ensembl 74_37 -1 known frame_shift_ins c.1921_1920 p.E640fs 1.000:1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 32 0 0.00 43 8 15.69 53 0 0.00 55 19 25.68 COX16 0 genome.wustl.edu 37 14 70793016 70793017 + R DEL AA AA - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 AA AA AA - AA AA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 14 70793016 70793017 AA - DEL COX16 ENST00000557612 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.001 - - - no_errors COX16 HGNC ENSG00000133983 tier1 114 0 0.00 106 23 17.83 17 0 0.00 32 4 11.11 EIF2AK3 0 genome.wustl.edu 37 2 88885453 88885453 + Frame_Shift_Del DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 88885453 88885453 A - DEL EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known frame_shift_del c.1556 p.L519fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 tier1 77 0 0.00 70 38 35.19 53 0 0.00 77 30 28.04 PTHLH 0 genome.wustl.edu 37 12 28114898 28114898 + Frame_Shift_Del DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 28114898 28114898 T - DEL PTHLH ENST00000354417 human ensembl 74_37 -1 known frame_shift_del c.557 p.K186fs 0.135 NULL pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 tier1 25 0 0.00 32 7 17.95 17 0 0.00 18 3 14.29 ARHGAP12 0 genome.wustl.edu 37 10 32096466 32096466 + R DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 32096466 32096466 A - DEL ARHGAP12 ENST00000492028 human ensembl 74_37 -1 known rna NULL NULL 0.771 - - - no_errors ARHGAP12 HGNC ENSG00000165322 tier1 53 0 0.00 52 18 25.71 58 0 0.00 75 31 29.25 FLJ27255 0 genome.wustl.edu 37 6 160010034 160010034 + R DEL C C - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 160010034 160010034 C - DEL FLJ27255 ENST00000430078 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP3-393E18.2 Clone_based_vega_gene ENSG00000237927 tier1 29 0 0.00 20 8 28.57 97 1 1.02 81 38 31.93 ING2 0 genome.wustl.edu 37 4 184432081 184432081 + Frame_Shift_Del DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 4 184432081 184432081 A - DEL ING2 ENST00000302327 human ensembl 74_37 +1 known frame_shift_del c.819 p.K275fs 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING2 HGNC ENSG00000168556 tier1 71 0 0.00 61 18 22.78 99 0 0.00 76 37 32.74 ZNF563 0 genome.wustl.edu 37 19 12430216 12430217 + Frame_Shift_Ins INS - - A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 12430216 12430217 - A INS ZNF563 ENST00000293725 human ensembl 74_37 -1 known frame_shift_ins c.623_622 p.W208fs 0.001:0.004 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 ZNF563 HGNC ENSG00000188868 tier1 138 1 0.72 118 15 11.28 20 0 0.00 25 3 10.71 ZNF341 0 genome.wustl.edu 37 20 32378993 32378994 + Frame_Shift_Ins INS - - C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 20 32378993 32378994 - C INS ZNF341 ENST00000375200 human ensembl 74_37 +1 known frame_shift_ins c.2235_2236 p.Q747fs 0.964:0.979 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 tier1 31 0 0.00 22 8 26.67 26 0 0.00 26 4 13.33 PBRM1 0 genome.wustl.edu 37 3 52678784 52678784 + Frame_Shift_Del DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 52678784 52678784 T - DEL PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_del c.835 p.I279fs 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 tier1 162 0 0.00 142 28 16.47 43 0 0.00 53 19 26.39 MPHOSPH9 0 genome.wustl.edu 37 12 123706321 123706322 + Frame_Shift_Ins INS - - A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 123706321 123706322 - A INS MPHOSPH9 ENST00000392425 human ensembl 74_37 -1 known frame_shift_ins c.14_13 p.S5fs 0.995:0.977 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 tier1 50 0 0.00 47 16 25.40 72 0 0.00 47 13 21.67 DH9 0 genome.wustl.edu 37 17 11837275 11837276 + Frame_Shift_Del DEL CT CT - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 CT CT CT - CT CT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 11837275 11837276 CT - DEL DH9 ENST00000262442 human ensembl 74_37 +1 known frame_shift_del c.12376_12377 p.C4127fs 0.999:1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH9 HGNC ENSG00000007174 tier1 78 0 0.00 50 7 12.28 62 0 0.00 58 7 10.77 ZFP36L1 0 genome.wustl.edu 37 14 69256388 69256388 + Frame_Shift_Del DEL G G - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 14 69256388 69256388 G - DEL ZFP36L1 ENST00000336440 human ensembl 74_37 -1 known frame_shift_del c.879 p.S294fs 1.000 NULL pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ENSG00000185650 tier1 45 0 0.00 19 9 32.14 38 0 0.00 20 14 41.18 KRT222 0 genome.wustl.edu 37 17 38818272 38818272 + Frame_Shift_Del DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 38818272 38818272 T - DEL KRT222 ENST00000394052 human ensembl 74_37 -1 known frame_shift_del c.121 p.M41fs 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT222 HGNC ENSG00000213424 tier1 51 0 0.00 46 9 16.36 59 0 0.00 42 8 16.00 AIM1 0 genome.wustl.edu 37 6 106960257 106960257 + Frame_Shift_Del DEL G G - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 106960257 106960257 G - DEL AIM1 ENST00000369066 human ensembl 74_37 +1 known frame_shift_del c.41 p.S16fs 1.000 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 tier1 55 0 0.00 29 6 17.14 16 0 0.00 11 4 26.67 SMARCA1 0 genome.wustl.edu 37 X 128582345 128582346 + Frame_Shift_Del DEL CT CT - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 CT CT CT - CT CT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 128582345 128582346 CT - DEL SMARCA1 ENST00000371122 human ensembl 74_37 -1 known frame_shift_del c.3106_3105 p.R1035fs 1.000:1.000 superfamily_Homeodomain-like pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 tier1 42 0 0.00 64 11 14.67 18 0 0.00 56 9 13.85 CTN2 0 genome.wustl.edu 37 2 80540733 80540733 + Frame_Shift_Del DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 80540733 80540733 A - DEL CTN2 ENST00000343114 human ensembl 74_37 +1 putative frame_shift_del c.47 p.N18fs 0.000 NULL pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTN2 HGNC ENSG00000066032 tier1 92 0 0.00 76 18 19.15 38 0 0.00 68 8 10.53 KCNQ3 0 genome.wustl.edu 37 8 133150233 133150233 + Frame_Shift_Del DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 133150233 133150233 T - DEL KCNQ3 ENST00000388996 human ensembl 74_37 -1 known frame_shift_del c.1599 p.K533fs 0.715 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 52 0 0.00 45 8 15.09 54 0 0.00 54 7 11.48 SCAPER 0 genome.wustl.edu 37 15 76958035 76958036 + Frame_Shift_Ins INS - - T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 76958035 76958036 - T INS SCAPER ENST00000324767 human ensembl 74_37 -1 known frame_shift_ins c.2604_2603 p.N868fs 0.445:0.968 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 tier1 55 0 0.00 46 14 23.33 10 0 0.00 28 7 20.00 LACTB 0 genome.wustl.edu 37 15 63419132 63419133 + Frame_Shift_Del DEL AA AA - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 AA AA AA - AA AA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 63419132 63419133 AA - DEL LACTB ENST00000261893 human ensembl 74_37 +1 known frame_shift_del c.499_500 p.L169fs 1.000:1.000 pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like - no_errors LACTB HGNC ENSG00000103642 tier1 88 0 0.00 56 20 26.32 69 0 0.00 59 36 37.89 ENTPD1-AS1 0 genome.wustl.edu 37 10 97515948 97515949 + R INS - - G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - G - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 97515948 97515949 - G INS ENTPD1-AS1 ENST00000416301 human ensembl 74_37 -1 known rna NULL NULL 0.969:0.906 - - - no_errors ENTPD1-AS1 HGNC ENSG00000226688 tier1 133 0 0.00 115 17 12.88 38 0 0.00 26 6 18.75 MIR4329 0 genome.wustl.edu 37 X 112023991 112023991 + R DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 112023991 112023991 A - DEL MIR4329 ENST00000582643 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR4329 HGNC ENSG00000263351 tier1 42 0 0.00 52 17 24.64 51 0 0.00 52 18 25.71 COPZ2 0 genome.wustl.edu 37 17 46103622 46103623 + R DEL CT CT - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 CT CT CT - CT CT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 46103622 46103623 CT - DEL COPZ2 ENST00000582553 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.000 - - - no_errors COPZ2 HGNC ENSG00000005243 tier1 15 0 0.00 14 5 26.32 80 0 0.00 61 46 42.99 PTBP1 0 genome.wustl.edu 37 19 803599 803600 + Frame_Shift_Ins INS - - G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - G - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 803599 803600 - G INS PTBP1 ENST00000356948 human ensembl 74_37 +1 known frame_shift_ins c.78_79 p.P27fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 tier1 53 0 0.00 14 7 33.33 61 0 0.00 40 19 32.20 KBTBD6 0 genome.wustl.edu 37 13 41704810 41704811 + Frame_Shift_Ins INS - - A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 13 41704810 41704811 - A INS KBTBD6 ENST00000379485 human ensembl 74_37 -1 known frame_shift_ins c.1838_1837 p.C613fs 1.000:0.865 NULL pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 tier1 77 0 0.00 42 12 22.22 59 0 0.00 55 13 19.12 PROX1 0 genome.wustl.edu 37 1 214178556 214178556 + Frame_Shift_Del DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 214178556 214178556 T - DEL PROX1 ENST00000261454 human ensembl 74_37 +1 known frame_shift_del c.1774 p.Y594fs 1.000 pfam_Homeo_prospero_dom,superfamily_Homeodomain-like pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 tier1 80 0 0.00 76 41 35.04 38 0 0.00 72 18 20.00 KIAA0556 0 genome.wustl.edu 37 16 27732932 27732933 + Frame_Shift_Ins INS - - T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 27732932 27732933 - T INS KIAA0556 ENST00000261588 human ensembl 74_37 +1 known frame_shift_ins c.1659_1660 p.V555fs 0.910:0.729 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 tier1 60 0 0.00 57 27 32.14 56 0 0.00 60 31 34.07 ENTPD1-AS1 0 genome.wustl.edu 37 10 97778823 97778824 + R INS - - A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 97778823 97778824 - A INS ENTPD1-AS1 ENST00000458228 human ensembl 74_37 -1 known rna NULL NULL 0.508:0.420 - - - no_errors ENTPD1-AS1 HGNC ENSG00000226688 tier1 39 0 0.00 36 7 16.28 50 0 0.00 23 8 25.81 HYDIN 0 genome.wustl.edu 37 16 70866948 70866949 + Frame_Shift_Ins INS - - T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 70866948 70866949 - T INS HYDIN ENST00000393567 human ensembl 74_37 -1 putative frame_shift_ins c.13702_13701 p.F4567fs 0.004:0.002 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 58 0 0.00 73 31 29.81 50 0 0.00 47 23 32.86 USP34 0 genome.wustl.edu 37 2 61505330 61505330 + Frame_Shift_Del DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 61505330 61505330 T - DEL USP34 ENST00000398571 human ensembl 74_37 -1 known frame_shift_del c.5403 p.K1801fs 0.996 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 tier1 49 0 0.00 49 10 16.95 80 0 0.00 74 10 11.90 ATP8A1 0 genome.wustl.edu 37 4 42627651 42627652 + Frame_Shift_Ins INS - - A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 4 42627651 42627652 - A INS ATP8A1 ENST00000381668 human ensembl 74_37 -1 known frame_shift_ins c.244_243 p.L81fs 1.000:1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 tier1 114 0 0.00 111 14 11.20 36 0 0.00 81 9 10.00 EDA2R 0 genome.wustl.edu 37 X 65819393 65819393 + Frame_Shift_Del DEL C C - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 65819393 65819393 C - DEL EDA2R ENST00000253392 human ensembl 74_37 -1 known frame_shift_del c.890 p.G297fs 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27 - no_errors EDA2R HGNC ENSG00000131080 tier1 8 0 0.00 31 10 24.39 43 0 0.00 55 13 19.12 ITSN2 0 genome.wustl.edu 37 2 24484029 24484029 + Frame_Shift_Del DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 24484029 24484029 T - DEL ITSN2 ENST00000355123 human ensembl 74_37 -1 known frame_shift_del c.2628 p.K876fs 0.997 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 tier1 53 0 0.00 49 24 32.88 48 0 0.00 63 47 42.73 UBE3A 0 genome.wustl.edu 37 15 25601107 25601108 + Frame_Shift_Ins INS - - A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 25601107 25601108 - A INS UBE3A ENST00000397954 human ensembl 74_37 -1 known frame_shift_ins c.2065_2064 p.G688fs 1.000:1.000 pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 tier1 58 0 0.00 46 26 36.11 57 0 0.00 57 28 32.94 KRTAP25-1 0 genome.wustl.edu 37 21 31661763 31661763 + Frame_Shift_Del DEL G G - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 21 31661763 31661763 G - DEL KRTAP25-1 ENST00000416044 human ensembl 74_37 -1 known frame_shift_del c.46 p.Q16fs 0.000 NULL pfam_KRTAP_PMG - no_errors KRTAP25-1 HGNC ENSG00000232263 tier1 62 0 0.00 59 24 28.92 52 0 0.00 90 22 19.64 EPHA1 0 genome.wustl.edu 37 7 143087646 143087647 + R INS - - C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 143087646 143087647 - C INS EPHA1 ENST00000458129 human ensembl 74_37 -1 putative rna NULL NULL 0.006:0.006 - - - no_errors EPHA1 HGNC ENSG00000146904 tier1 38 0 0.00 33 8 19.51 41 0 0.00 52 8 13.33 FRMPD3 0 genome.wustl.edu 37 X 106793287 106793289 + In_Frame_Del DEL GAA GAA - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 GAA GAA GAA - GAA GAA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 106793287 106793289 GAA - DEL FRMPD3 ENST00000276185 human ensembl 74_37 +1 known in_frame_del c.510_512 p.K172in_frame_del 1.000:1.000:1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 tier1 11 0 0.00 28 17 37.78 21 0 0.00 33 23 41.07 RANBP10 0 genome.wustl.edu 37 16 67765377 67765380 + Frame_Shift_Del DEL TGTC TGTC - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 TGTC TGTC TGTC - TGTC TGTC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 67765377 67765380 TGTC - DEL RANBP10 ENST00000317506 human ensembl 74_37 -1 known frame_shift_del c.887_884 p.R295fs 1.000:1.000:1.000:1.000 smart_CTLH_C,pfscan_CTLH_C pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 tier1 89 0 0.00 49 39 44.32 105 0 0.00 115 42 26.75 RICTOR 0 genome.wustl.edu 37 5 38954826 38954826 + R DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 38954826 38954826 T - DEL RICTOR ENST00000503698 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RICTOR HGNC ENSG00000164327 tier1 22 0 0.00 22 12 35.29 29 0 0.00 45 24 34.78 ATF6B 0 genome.wustl.edu 37 6 32093827 32093828 + R INS - - AC TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - AC - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 32093827 32093828 - AC INS ATF6B ENST00000468502 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ATF6B HGNC ENSG00000213676 tier1 27 0 0.00 26 7 21.21 32 0 0.00 51 18 26.09 FAS 0 genome.wustl.edu 37 10 90768708 90768708 + Frame_Shift_Del DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 90768708 90768708 T - DEL FAS ENST00000355740 human ensembl 74_37 +1 known frame_shift_del c.397 p.C135fs 0.881 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt - no_errors FAS HGNC ENSG00000026103 tier1 83 0 0.00 81 10 10.99 67 0 0.00 86 17 16.50 SPTY2D1 0 genome.wustl.edu 37 11 18638500 18638501 + Frame_Shift_Ins INS - - T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 18638500 18638501 - T INS SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known frame_shift_ins c.97_96 p.D32fs 1.000:1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 tier1 72 0 0.00 75 13 14.77 74 0 0.00 108 12 10.00 ARID2 0 genome.wustl.edu 37 12 46245627 46245627 + Frame_Shift_Del DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 46245627 46245627 A - DEL ARID2 ENST00000334344 human ensembl 74_37 +1 known frame_shift_del c.3721 p.I1242fs 1.000 NULL pfam_ARID/BRIGHT_D-bd,pfam_D-bd_RFX,superfamily_ARID/BRIGHT_D-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID2 HGNC ENSG00000189079 tier1 37 0 0.00 44 10 18.52 68 0 0.00 70 13 15.66 ERF 0 genome.wustl.edu 37 19 42753368 42753368 + Frame_Shift_Del DEL C C - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 42753368 42753368 C - DEL ERF ENST00000222329 human ensembl 74_37 -1 known frame_shift_del c.896 p.G299fs 0.941 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 tier1 52 0 0.00 41 9 18.00 59 0 0.00 28 7 20.00 ANKS3 0 genome.wustl.edu 37 16 4780042 4780042 + Frame_Shift_Del DEL G G - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 4780042 4780042 G - DEL ANKS3 ENST00000304283 human ensembl 74_37 -1 known frame_shift_del c.109 p.L37fs 0.948 smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS3 HGNC ENSG00000168096 tier1 29 0 0.00 8 13 61.90 46 0 0.00 38 17 30.91 SEC16B 0 genome.wustl.edu 37 1 177927333 177927333 + Frame_Shift_Del DEL G G - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 177927333 177927333 G - DEL SEC16B ENST00000308284 human ensembl 74_37 -1 known frame_shift_del c.1299 p.S434fs 0.033 NULL NULL - no_errors SEC16B HGNC ENSG00000120341 tier1 37 0 0.00 16 4 20.00 37 0 0.00 47 9 16.07 ARHGAP33 0 genome.wustl.edu 37 19 36276164 36276164 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 36276164 36276164 C T SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.1795 p.R599W 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 tier1 - - 134 0 0.00 84 40 32.26 8 0 0.00 8 2 20.00 ARHGEF10L 0 genome.wustl.edu 37 1 17953982 17953982 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 17953982 17953982 G A SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.1568 p.R523H 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 tier1 - - 33 0 0.00 16 16 50.00 7 0 0.00 5 8 61.54 BCOR 0 genome.wustl.edu 37 X 39933594 39933594 + Frame_Shift_Del DEL G G - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 39933594 39933594 G - DEL BCOR ENST00000378444 human ensembl 74_37 -1 known frame_shift_del c.1005 p.S336fs 0.954 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 tier1 26 0 0.00 32 7 17.95 12 0 0.00 8 4 33.33 CAC1F 0 genome.wustl.edu 37 X 49068717 49068717 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 49068717 49068717 C T SNP CAC1F ENST00000376265 human ensembl 74_37 -1 known missense c.4027 p.V1343I 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CAC1F HGNC ENSG00000102001 tier1 rs151203138 - 23 0 0.00 15 18 54.55 6 0 0.00 5 11 68.75 CELSR1 0 genome.wustl.edu 37 22 46762287 46762287 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 22 46762287 46762287 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.8296 p.V2766I 0.020 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,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 CELSR1 HGNC ENSG00000075275 tier1 - - 52 0 0.00 49 22 30.99 13 0 0.00 7 3 30.00 DJC17 0 genome.wustl.edu 37 15 41060224 41060224 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 41060224 41060224 C T SNP DJC17 ENST00000220496 human ensembl 74_37 -1 known missense c.829 p.V277I 1.000 NULL pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DJC17 HGNC ENSG00000104129 tier1 - - 75 0 0.00 69 14 16.87 6 0 0.00 8 4 33.33 ENSG00000204038 0 genome.wustl.edu 37 10 82012546 82012546 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 82012546 82012546 G A SNP ENSG00000204038 ENST00000356374 human ensembl 74_37 +1 known missense c.64 p.G22R 0.014 NULL NULL - no_errors AL359195.1 Clone_based_ensembl_gene ENSG00000204038 tier1 - - 19 0 0.00 14 6 28.57 6 0 0.00 0 2 100.00 GJB1 0 genome.wustl.edu 37 X 70444048 70444048 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 70444048 70444048 G A SNP GJB1 ENST00000361726 human ensembl 74_37 +1 known missense c.491 p.R164Q 1.000 pfam_Connexin_CCC pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin32 - no_errors GJB1 HGNC ENSG00000169562 tier1 - - 20 0 0.00 7 12 63.16 19 0 0.00 5 12 70.59 GRWD1 0 genome.wustl.edu 37 19 48956136 48956136 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 48956136 48956136 G A SNP GRWD1 ENST00000253237 human ensembl 74_37 +1 known missense c.1195 p.G399R 0.127 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GRWD1 HGNC ENSG00000105447 tier1 - - 18 0 0.00 21 6 22.22 7 0 0.00 2 2 50.00 OR5D18 0 genome.wustl.edu 37 11 55587910 55587910 + Missense_Mutation SNP A A G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 55587910 55587910 A G SNP OR5D18 ENST00000333976 human ensembl 74_37 +1 known missense c.805 p.R269G 0.096 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D18 HGNC ENSG00000186119 tier1 - - 32 0 0.00 26 4 13.33 30 0 0.00 7 7 50.00 PLEKHG5 0 genome.wustl.edu 37 1 6529145 6529145 + Missense_Mutation SNP T T C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 6529145 6529145 T C SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.2443 p.T815A 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 tier1 - - 28 0 0.00 14 3 17.65 10 0 0.00 9 3 25.00 PPP1R10 0 genome.wustl.edu 37 6 30570263 30570264 + In_Frame_Ins INS - - GGA TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - GGA - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 30570263 30570264 - GGA INS PPP1R10 ENST00000376511 human ensembl 74_37 -1 known in_frame_ins c.2163_2162 p.722in_frame_insP 0.355:0.990 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 tier1 58 0 0.00 77 12 13.48 15 0 0.00 7 4 36.36 PROM2 0 genome.wustl.edu 37 2 95941702 95941702 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 95941702 95941702 G A SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known missense c.319 p.V107M 0.997 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 tier1 rs142809353 - 9 0 0.00 7 9 56.25 20 0 0.00 6 3 33.33 SENP3 0 genome.wustl.edu 37 17 7466910 7466910 + Missense_Mutation SNP G G T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 7466910 7466910 G T SNP SENP3 ENST00000429205 human ensembl 74_37 +1 known missense c.517 p.G173W 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 tier1 - - 38 0 0.00 32 10 23.81 13 0 0.00 9 3 25.00 SPPL2C 0 genome.wustl.edu 37 17 43922898 43922898 + Missense_Mutation SNP A A C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 43922898 43922898 A C SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known missense c.626 p.E209A 1.000 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 tier1 - - 28 0 0.00 18 7 28.00 6 0 0.00 5 3 37.50 TICAM1 0 genome.wustl.edu 37 19 4816506 4816506 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 4816506 4816506 C T SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known silent c.1884 p.P628 0.000 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 tier1 - - 38 0 0.00 21 11 33.33 5 0 0.00 6 2 25.00 TRIM3 0 genome.wustl.edu 37 11 6478144 6478144 + Missense_Mutation SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 6478144 6478144 C A SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known missense c.812 p.R271L 1.000 smart_Bbox_C pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 tier1 - - 75 0 0.00 35 8 18.18 8 0 0.00 0 3 100.00 ZFHX2 0 genome.wustl.edu 37 14 23994760 23994760 + Frame_Shift_Del DEL G G - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 14 23994760 23994760 G - DEL ZFHX2 ENST00000419474 human ensembl 74_37 -1 known frame_shift_del c.4391 p.P1464fs 0.930 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 tier1 45 0 0.00 43 16 27.12 24 0 0.00 8 14 63.64 CHPF2 0 genome.wustl.edu 37 7 150935093 150935093 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 150935093 150935093 G A SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.1645 p.A549T 0.830 pfam_Chond_Galc pfam_Chond_Galc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 tier1 - - 39 0 0.00 23 5 17.86 53 1 1.85 67 6 8.22 DCAF12 0 genome.wustl.edu 37 9 34098374 34098374 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 9 34098374 34098374 G A SNP DCAF12 ENST00000361264 human ensembl 74_37 -1 known missense c.743 p.T248I 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 - - 49 0 0.00 58 6 9.38 81 0 0.00 110 11 9.09 ACOT11 0 genome.wustl.edu 37 1 55050452 55050452 + Missense_Mutation SNP T T C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 55050452 55050452 T C SNP ACOT11 ENST00000371316 human ensembl 74_37 +1 known missense c.158 p.V53A 1.000 NULL pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 tier1 - - 53 0 0.00 45 8 14.81 31 0 0.00 47 5 9.62 CENPW 0 genome.wustl.edu 37 6 126661509 126661509 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 126661509 126661509 G A SNP CENPW ENST00000368325 human ensembl 74_37 +1 known silent c.90 p.K30 0.999 NULL NULL - no_errors CENPW HGNC ENSG00000203760 tier1 - - 101 0 0.00 69 8 10.39 84 0 0.00 96 10 9.43 OR2T4 0 genome.wustl.edu 37 1 248525879 248525879 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 248525879 248525879 C T SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known silent c.997 p.L333 0.008 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 tier1 - - 125 0 0.00 104 18 14.63 18 0 0.00 41 4 8.89 MDC1 0 genome.wustl.edu 37 6 30671546 30671546 + Missense_Mutation SNP G G T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 30671546 30671546 G T SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.5414 p.P1805H 0.034 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 tier1 - - 33 0 0.00 31 4 11.43 67 0 0.00 99 8 7.48 COL12A1 0 genome.wustl.edu 37 6 75838038 75838038 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 75838038 75838038 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.6314 p.G2105D 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 56 0 0.00 58 18 23.68 37 0 0.00 89 8 8.16 GALNT10 0 genome.wustl.edu 37 5 153760019 153760019 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 153760019 153760019 C T SNP GALNT10 ENST00000297107 human ensembl 74_37 +1 known missense c.766 p.R256W 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 tier1 - - 38 0 0.00 64 10 13.51 61 0 0.00 86 7 7.53 ABCA12 0 genome.wustl.edu 37 2 215831612 215831612 + Silent SNP A A G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 215831612 215831612 A G SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.5844 p.L1948 0.982 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 53 0 0.00 72 15 17.24 61 0 0.00 72 7 8.75 PCDHGA2 0 genome.wustl.edu 37 5 140720140 140720140 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 140720140 140720140 G A SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.1602 p.A534 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 tier1 rs146024512 - 60 0 0.00 43 5 10.42 64 0 0.00 77 4 4.94 PITPNM2 0 genome.wustl.edu 37 12 123475112 123475112 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 123475112 123475112 G A SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known missense c.2549 p.T850M 1.000 pfam_DDHD,pfscan_DDHD pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 tier1 - - 32 0 0.00 30 9 23.08 29 0 0.00 38 4 8.89 SPHKAP 0 genome.wustl.edu 37 2 228881380 228881380 + Missense_Mutation SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 228881380 228881380 C A SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.4190 p.S1397I 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 58 0 0.00 60 6 9.09 104 0 0.00 93 10 9.71 PPP1R9A 0 genome.wustl.edu 37 7 94540337 94540337 + Missense_Mutation SNP G G T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 94540337 94540337 G T SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.912 p.E304D 0.225 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 tier1 - - 59 0 0.00 43 4 8.51 105 0 0.00 85 5 5.56 PHC3 0 genome.wustl.edu 37 3 169863250 169863250 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 169863250 169863250 C T SNP PHC3 ENST00000495893 human ensembl 74_37 -1 known silent c.633 p.S211 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC ENSG00000173889 tier1 - - 54 0 0.00 41 12 22.64 62 0 0.00 56 6 9.68 SLC23A1 0 genome.wustl.edu 37 5 138716376 138716376 + R SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 138716376 138716376 G A SNP SLC23A1 ENST00000503919 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC23A1 HGNC ENSG00000170482 tier1 - - 50 0 0.00 59 8 11.94 53 0 0.00 82 4 4.65 DK2 0 genome.wustl.edu 37 5 36227666 36227666 + Missense_Mutation SNP A A C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 36227666 36227666 A C SNP DK2 ENST00000381937 human ensembl 74_37 -1 putative missense c.302 p.L101R 1.000 pirsf_ATP-D-like_euk pfam_PolyP/ATP_DK_prd,superfamily_ATP-D_kinase_PpnK-typ,pirsf_ATP-D-like_euk - no_errors DK2 HGNC ENSG00000152620 tier1 - - 105 0 0.00 134 16 10.67 42 0 0.00 87 7 7.45 ECHDC2 0 genome.wustl.edu 37 1 53364884 53364884 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 53364884 53364884 C T SNP ECHDC2 ENST00000371522 human ensembl 74_37 -1 known missense c.715 p.V239M 1.000 NULL pfam_Crotonase_core_superfam - no_errors ECHDC2 HGNC ENSG00000121310 tier1 - - 50 0 0.00 47 8 14.55 86 0 0.00 103 7 6.36 NEGR1 0 genome.wustl.edu 37 1 71873148 71873148 + Missense_Mutation SNP T T G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 71873148 71873148 T G SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known missense c.1046 p.K349T 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NEGR1 HGNC ENSG00000172260 tier1 - - 62 0 0.00 73 10 12.05 36 0 0.00 69 7 9.21 WWP1 0 genome.wustl.edu 37 8 87473537 87473537 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 87473537 87473537 G A SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known missense c.2584 p.A862T 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT 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 - no_errors WWP1 HGNC ENSG00000123124 tier1 - - 62 0 0.00 59 7 10.61 45 0 0.00 64 4 5.88 UGT1A5 0 genome.wustl.edu 37 2 234622355 234622356 + Frame_Shift_Ins INS - - AG TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - AG - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 234622355 234622356 - AG INS UGT1A5 ENST00000373414 human ensembl 74_37 +1 known frame_shift_ins c.718_719 p.V243fs 0.009:0.032 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A5 HGNC ENSG00000240224 tier1 77 0 0.00 73 8 9.88 60 0 0.00 69 5 6.76 DENND6A 0 genome.wustl.edu 37 3 57619022 57619023 + Frame_Shift_Ins INS - - A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 57619022 57619023 - A INS DENND6A ENST00000311128 human ensembl 74_37 -1 known frame_shift_ins c.1323_1322 p.L441fs 1.000:1.000 pfam_Afi1_N pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom - no_errors DENND6A HGNC ENSG00000174839 tier1 142 0 0.00 99 12 10.81 76 0 0.00 94 5 5.05 EXPH5 0 genome.wustl.edu 37 11 108384793 108384793 + Frame_Shift_Del DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 108384793 108384793 A - DEL EXPH5 ENST00000265843 human ensembl 74_37 -1 known frame_shift_del c.1441 p.W481fs 0.808 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 tier1 42 0 0.00 36 5 12.20 67 0 0.00 77 6 7.23 FJX1 0 genome.wustl.edu 37 11 35642248 35642249 + R DEL AA AA - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 AA AA AA - AA AA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 35642248 35642249 AA - DEL FJX1 ENST00000532914 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors FJX1 HGNC ENSG00000179431 tier1 92 0 0.00 57 16 21.92 39 0 0.00 37 4 9.76 RNF220 0 genome.wustl.edu 37 1 45116990 45116993 + R DEL CTCT CTCT - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 CTCT CTCT CTCT - CTCT CTCT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 45116990 45116993 CTCT - DEL RNF220 ENST00000474064 human ensembl 74_37 +1 known rna NULL NULL 0.930:0.655:0.637:0.201 - - - no_errors RNF220 HGNC ENSG00000187147 tier1 71 0 0.00 47 14 22.95 50 0 0.00 57 6 9.52 ZNF131 0 genome.wustl.edu 37 5 43161952 43161952 + Frame_Shift_Del DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 43161952 43161952 A - DEL ZNF131 ENST00000399534 human ensembl 74_37 +1 known frame_shift_del c.973 p.I327fs 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 tier1 24 0 0.00 27 5 15.62 39 0 0.00 91 4 4.21 FPGT 0 genome.wustl.edu 37 1 74670596 74670597 + Frame_Shift_Ins INS - - A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 74670596 74670597 - A INS FPGT ENST00000370898 human ensembl 74_37 +1 known frame_shift_ins c.904_905 p.I304fs 0.995:0.991 pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 tier1 59 0 0.00 62 9 12.68 41 0 0.00 65 4 5.80 TMEM41B 0 genome.wustl.edu 37 11 9308018 9308018 + Frame_Shift_Del DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 9308018 9308018 A - DEL TMEM41B ENST00000299596 human ensembl 74_37 -1 known frame_shift_del c.690 p.F230fs 1.000 pfam_SRE_assoc pfam_SRE_assoc - no_errors TMEM41B HGNC ENSG00000166471 tier1 92 0 0.00 89 10 10.10 77 0 0.00 76 8 9.52 GPALPP1 0 genome.wustl.edu 37 13 45580382 45580383 + Frame_Shift_Ins INS - - T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 13 45580382 45580383 - T INS GPALPP1 ENST00000361121 human ensembl 74_37 +1 known frame_shift_ins c.267_268 p.G91fs 0.677:0.993 NULL pfam_DUF3752 - no_errors GPALPP1 HGNC ENSG00000133114 tier1 140 0 0.00 151 20 11.70 45 0 0.00 54 4 6.90 ANXA1 0 genome.wustl.edu 37 9 75773648 75773648 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 9 75773648 75773648 C T SNP ANXA1 ENST00000257497 human ensembl 74_37 +1 known missense c.104 p.A35V 0.970 NULL pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinI - no_errors ANXA1 HGNC ENSG00000135046 tier1 - - 22 0 0.00 29 22 43.14 43 1 2.27 47 26 35.62 SOAT2 0 genome.wustl.edu 37 12 53509269 53509269 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 53509269 53509269 C T SNP SOAT2 ENST00000301466 human ensembl 74_37 +1 known missense c.539 p.A180V 0.042 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT2 HGNC ENSG00000167780 tier1 - - 33 0 0.00 8 5 38.46 39 1 2.50 24 18 42.86 DPY19L2P1 0 genome.wustl.edu 37 7 35131548 35131548 + R SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 35131548 35131548 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 tier1 - - 39 0 0.00 78 15 16.13 35 1 2.78 68 8 10.53 CCDC132 0 genome.wustl.edu 37 7 92902025 92902025 + Nonsense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 92902025 92902025 C T SNP CCDC132 ENST00000305866 human ensembl 74_37 +1 known nonsense c.781 p.R261* 1.000 pfam_Vacuolar_sorting-assoc_54 pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 tier1 - - 40 0 0.00 47 18 27.69 36 1 2.70 63 39 38.24 CUL1 0 genome.wustl.edu 37 7 148463663 148463663 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 7 148463663 148463663 G A SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.800 p.R267H 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 tier1 - - 168 0 0.00 153 36 18.37 36 0 0.00 30 11 26.83 CENPH 0 genome.wustl.edu 37 5 68492902 68492902 + Frame_Shift_Del DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 68492902 68492902 A - DEL CENPH ENST00000283006 human ensembl 74_37 +1 known frame_shift_del c.337 p.N115fs 0.089 NULL pfam_CENP-H - no_errors CENPH HGNC ENSG00000153044 tier1 96 0 0.00 69 17 19.77 41 0 0.00 66 15 18.52 SETD1B 0 genome.wustl.edu 37 12 122242658 122242658 + Frame_Shift_Del DEL C C - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 122242658 122242658 C - DEL SETD1B ENST00000267197 human ensembl 74_37 +1 known frame_shift_del c.15 p.H8fs 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 tier1 128 1 0.78 53 31 36.90 54 0 0.00 28 20 41.67 LHX1 0 genome.wustl.edu 37 17 35300394 35300395 + Frame_Shift_Ins INS - - C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 35300394 35300395 - C INS LHX1 ENST00000254457 human ensembl 74_37 +1 known frame_shift_ins c.1187_1188 p.E399fs 1.000:1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 tier1 56 0 0.00 31 15 32.61 72 0 0.00 58 10 14.71 SULT6B1 0 genome.wustl.edu 37 2 37414553 37414553 + Frame_Shift_Del DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 37414553 37414553 T - DEL SULT6B1 ENST00000535679 human ensembl 74_37 -1 known frame_shift_del c.257 p.K86fs 0.944 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT6B1 HGNC ENSG00000138068 tier1 175 0 0.00 108 60 35.71 51 0 0.00 58 26 30.95 BEND5 0 genome.wustl.edu 37 1 49201967 49201967 + Frame_Shift_Del DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 49201967 49201967 T - DEL BEND5 ENST00000371833 human ensembl 74_37 -1 known frame_shift_del c.1052 p.K351fs 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 tier1 27 0 0.00 43 17 28.33 27 1 3.57 25 14 35.90 ANKRD60 0 genome.wustl.edu 37 20 56803402 56803402 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 20 56803402 56803402 G A SNP ANKRD60 ENST00000457363 human ensembl 74_37 -1 known missense c.308 p.T103M 0.994 pfscan_Ubiquitin_supergroup pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin_supergroup - no_errors ANKRD60 HGNC ENSG00000124227 tier1 - - 125 1 0.79 59 8 11.59 15 0 0.00 2 0 0.00 CHRFAM7A 0 genome.wustl.edu 37 15 30664359 30664361 + In_Frame_Del DEL TCT TCT - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 30664359 30664361 TCT - DEL CHRFAM7A ENST00000299847 human ensembl 74_37 -1 known in_frame_del c.514_512 p.K171in_frame_del 1.000:1.000:1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel - no_errors CHRFAM7A HGNC ENSG00000166664 tier1 20 0 0.00 9 8 47.06 6 0 0.00 4 1 20.00 ENSG00000223579 0 genome.wustl.edu 37 22 20640727 20640727 + R SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 22 20640727 20640727 G A SNP ENSG00000223579 ENST00000577456 human ensembl 74_37 -1 known rna NULL NULL 0.062 - - - no_errors AC011718.2 Clone_based_vega_gene ENSG00000223579 tier1 - - 75 0 0.00 52 7 11.67 13 0 0.00 7 0 0.00 EPS8L1 0 genome.wustl.edu 37 19 55594928 55594928 + Frame_Shift_Del DEL G G - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 55594928 55594928 G - DEL EPS8L1 ENST00000586329 human ensembl 74_37 +1 novel frame_shift_del c.1343 p.R450fs 0.000 NULL pfam_PTB,superfamily_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 tier1 32 0 0.00 23 4 14.81 15 0 0.00 1 0 0.00 FGF17 0 genome.wustl.edu 37 8 21905620 21905620 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 21905620 21905620 G A SNP FGF17 ENST00000359441 human ensembl 74_37 +1 known missense c.511 p.E171K 0.995 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF17 HGNC ENSG00000158815 tier1 - - 31 0 0.00 20 5 20.00 16 0 0.00 8 1 11.11 GPR123 0 genome.wustl.edu 37 10 134942697 134942697 + Frame_Shift_Del DEL C C - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 134942697 134942697 C - DEL GPR123 ENST00000607359 human ensembl 74_37 +1 putative frame_shift_del c.3522 p.S1177fs 1.000 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 tier1 17 0 0.00 15 2 11.76 9 0 0.00 8 0 0.00 HS6ST1 0 genome.wustl.edu 37 2 129075797 129075797 + Missense_Mutation SNP A A C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 129075797 129075797 A C SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known missense c.341 p.V114G 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 tier1 rs199993343 - 26 0 0.00 14 3 17.65 5 0 0.00 3 1 25.00 KATNB1 0 genome.wustl.edu 37 16 57790824 57790824 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 57790824 57790824 G A SNP KATNB1 ENST00000379661 human ensembl 74_37 +1 known missense c.1934 p.R645H 0.996 NULL 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 KATNB1 HGNC ENSG00000140854 tier1 - - 55 0 0.00 53 34 38.64 11 0 0.00 8 1 11.11 KC5 0 genome.wustl.edu 37 12 5153711 5153711 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 5153711 5153711 C T SNP KC5 ENST00000252321 human ensembl 74_37 +1 known missense c.398 p.T133M 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1.5 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KC5 HGNC ENSG00000130037 tier1 - - 64 0 0.00 35 20 36.36 11 0 0.00 5 0 0.00 KNDC1 0 genome.wustl.edu 37 10 135015334 135015334 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 135015334 135015334 G A SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.3325 p.V1109I 0.989 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 tier1 - - 24 0 0.00 26 7 21.21 5 0 0.00 6 0 0.00 LAMA5 0 genome.wustl.edu 37 20 60891033 60891033 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 20 60891033 60891033 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.7838 p.A2613V 0.000 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 71 0 0.00 57 36 38.71 6 0 0.00 2 0 0.00 LINC00304 0 genome.wustl.edu 37 16 89226823 89226823 + R SNP A A G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 89226823 89226823 A G SNP LINC00304 ENST00000321214 human ensembl 74_37 +1 known rna NULL NULL 0.389 - - - no_errors LINC00304 HGNC ENSG00000180422 tier1 - - 49 0 0.00 46 8 14.81 9 0 0.00 3 0 0.00 NWD1 0 genome.wustl.edu 37 19 16860994 16860994 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 16860994 16860994 C T SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.1541 p.T514M 0.187 superfamily_P-loop_NTPase pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 tier1 - - 71 0 0.00 51 9 15.00 11 0 0.00 9 1 10.00 PCSK4 0 genome.wustl.edu 37 19 1486915 1486915 + Nonsense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 1486915 1486915 G A SNP PCSK4 ENST00000588195 human ensembl 74_37 -1 known nonsense c.991 p.R331* 1.000 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept - no_errors PCSK4 HGNC ENSG00000115257 tier1 rs146576658 - 84 0 0.00 48 38 44.19 8 0 0.00 0 1 100.00 SOGA2 0 genome.wustl.edu 37 18 8786056 8786056 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 18 8786056 8786056 C T SNP SOGA2 ENST00000520495 human ensembl 74_37 +1 known missense c.1417 p.R473W 1.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 tier1 - - 47 0 0.00 20 5 20.00 8 0 0.00 3 0 0.00 TOR4A 0 genome.wustl.edu 37 9 140173617 140173617 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 9 140173617 140173617 G A SNP TOR4A ENST00000357503 human ensembl 74_37 +1 known missense c.476 p.R159H 0.992 pfam_Torsin,superfamily_P-loop_NTPase pfam_Torsin,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors TOR4A HGNC ENSG00000198113 tier1 - - 21 0 0.00 18 5 21.74 10 0 0.00 7 1 12.50 ZNF385A 0 genome.wustl.edu 37 12 54763922 54763922 + R DEL G G - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 54763922 54763922 G - DEL ZNF385A ENST00000552382 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF385A HGNC ENSG00000161642 tier1 15 0 0.00 21 12 36.36 6 0 0.00 2 1 33.33 C2orf27A 0 genome.wustl.edu 37 2 132509237 132509237 + R SNP A A G TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 132509237 132509237 A G SNP C2orf27A ENST00000463645 human ensembl 74_37 +1 putative rna NULL NULL 0.226 - - - no_errors C2orf27A HGNC ENSG00000197927 tier1 - - 270 0 0.00 205 87 29.79 0 0 0.00 0 0 0.00 CAPN15 0 genome.wustl.edu 37 16 597434 597434 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 16 597434 597434 C T SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known missense c.596 p.A199V 0.006 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 tier1 - - 9 0 0.00 7 5 41.67 4 0 0.00 3 1 25.00 CYP11B1 0 genome.wustl.edu 37 8 143957223 143957223 + Missense_Mutation SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 143957223 143957223 C A SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.1026 p.Q342H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 tier1 - - 59 0 0.00 46 15 24.59 0 0 0.00 3 0 0.00 DJC24 0 genome.wustl.edu 37 11 31447933 31447934 + R INS - - A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 31447933 31447934 - A INS DJC24 ENST00000524747 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.004 - - - no_errors DJC24 HGNC ENSG00000170946 tier1 33 0 0.00 29 6 17.14 1 0 0.00 4 1 20.00 ENSG00000221664 0 genome.wustl.edu 37 1 77857157 77857158 + R DEL TG TG - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 77857157 77857158 TG - DEL ENSG00000221664 ENST00000408737 human ensembl 74_37 -1 novel rna NULL NULL 0.995:0.994 - - - no_errors AC095030.1 Clone_based_ensembl_gene ENSG00000221664 tier1 36 0 0.00 44 7 13.73 0 0 0.00 0 0 0.00 ENSG00000252176 0 genome.wustl.edu 37 8 39418521 39418524 + R DEL ACAC ACAC - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 ACAC ACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 39418521 39418524 ACAC - DEL ENSG00000252176 ENST00000516367 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors AC123767.1 Clone_based_ensembl_gene ENSG00000252176 tier1 16 0 0.00 10 4 28.57 0 0 0.00 0 0 0.00 FAM86B1 0 genome.wustl.edu 37 8 12042940 12042940 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 12042940 12042940 G A SNP FAM86B1 ENST00000527300 human ensembl 74_37 -1 known missense c.254 p.T85M 0.761 NULL NULL - no_errors FAM86B1 HGNC ENSG00000186523 tier1 rs200121631 - 205 0 0.00 193 27 12.27 3 0 0.00 8 0 0.00 GOLGA6L4 0 genome.wustl.edu 37 15 82932257 82932258 + R DEL AC AC - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 82932257 82932258 AC - DEL GOLGA6L4 ENST00000560844 human ensembl 74_37 -1 known rna NULL NULL 0.140:0.148 - - - no_errors RP13-996F3.5 Clone_based_vega_gene ENSG00000215749 tier1 9 0 0.00 5 3 37.50 0 0 0.00 0 0 0.00 MRPL42 0 genome.wustl.edu 37 12 93894748 93894748 + R DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 12 93894748 93894748 A - DEL MRPL42 ENST00000552938 human ensembl 74_37 +1 putative rna NULL NULL 0.008 - - - no_errors MRPL42 HGNC ENSG00000198015 tier1 16 0 0.00 23 4 14.81 0 0 0.00 0 0 0.00 PLEC 0 genome.wustl.edu 37 8 144997258 144997258 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 144997258 144997258 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.7250 p.A2417V 0.999 superfamily_Chorismate_mutase_type_II pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 17 0 0.00 16 4 20.00 2 0 0.00 4 0 0.00 RPL5 0 genome.wustl.edu 37 1 93301874 93301874 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 93301874 93301874 C T SNP RPL5 ENST00000370321 human ensembl 74_37 +1 known missense c.452 p.A151V 1.000 pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc - no_errors RPL5 HGNC ENSG00000122406 tier1 - - 38 0 0.00 59 8 11.94 0 0 0.00 0 0 0.00 TERF1 0 genome.wustl.edu 37 8 73958296 73958296 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 73958296 73958296 G A SNP TERF1 ENST00000276603 human ensembl 74_37 +1 known missense c.1244 p.R415Q 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 tier1 - - 138 0 0.00 154 28 15.38 0 0 0.00 0 0 0.00 TFAP2B 0 genome.wustl.edu 37 6 50791450 50791450 + Silent SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 50791450 50791450 C A SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known silent c.439 p.R147 0.952 NULL pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 tier1 - - 16 0 0.00 10 4 28.57 1 0 0.00 0 0 0.00 TMEM108 0 genome.wustl.edu 37 3 133099024 133099024 + Frame_Shift_Del DEL C C - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 3 133099024 133099024 C - DEL TMEM108 ENST00000321871 human ensembl 74_37 +1 known frame_shift_del c.469 p.R159fs 0.000 NULL NULL - no_errors TMEM108 HGNC ENSG00000144868 tier1 32 0 0.00 17 3 15.00 1 0 0.00 0 0 0.00 TMEM132A 0 genome.wustl.edu 37 11 60702157 60702157 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 60702157 60702157 G A SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.1760 p.R587H 0.003 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 tier1 - - 19 0 0.00 7 5 41.67 1 0 0.00 0 0 0.00 WASH6P 0 genome.wustl.edu 37 X 155251290 155251292 + R DEL AGG AGG - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 X 155251290 155251292 AGG - DEL WASH6P ENST00000461007 human ensembl 74_37 +1 known rna NULL NULL 0.512:0.578:0.601 - - - no_errors WASH6P HGNC ENSG00000182484 tier1 9 0 0.00 5 7 58.33 0 0 0.00 0 0 0.00 CAMK2G 0 genome.wustl.edu 37 10 75599351 75599351 + Nonsense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 10 75599351 75599351 G A SNP CAMK2G ENST00000423381 human ensembl 74_37 -1 known nonsense c.955 p.Q319* 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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_dom - no_errors CAMK2G HGNC ENSG00000148660 tier1 - - 19 0 0.00 6 6 50.00 2 0 0.00 3 3 50.00 NF1 0 genome.wustl.edu 37 17 29552144 29552144 + Frame_Shift_Del DEL T T - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 29552144 29552144 T - DEL NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_del c.1877 p.Y628fs 0.976 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 33 0 0.00 26 7 21.21 3 0 0.00 7 5 41.67 PRDM16 0 genome.wustl.edu 37 1 3329296 3329296 + Silent SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 3329296 3329296 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.2535 p.A845 0.039 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 tier1 - - 11 0 0.00 10 4 28.57 2 0 0.00 3 3 50.00 RREB1 0 genome.wustl.edu 37 6 7230854 7230854 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 7230854 7230854 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.2522 p.A841V 0.737 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 tier1 - - 41 0 0.00 19 14 42.42 4 0 0.00 2 3 60.00 RNF25 0 genome.wustl.edu 37 2 219528857 219528857 + Missense_Mutation SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 2 219528857 219528857 C A SNP RNF25 ENST00000295704 human ensembl 74_37 -1 known missense c.1203 p.K401N 0.998 NULL pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF25 HGNC ENSG00000163481 tier1 - - 46 0 0.00 75 9 10.59 52 0 0.00 58 2 3.33 TMEM79 0 genome.wustl.edu 37 1 156256092 156256092 + Missense_Mutation SNP C C A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 156256092 156256092 C A SNP TMEM79 ENST00000295694 human ensembl 74_37 +1 known missense c.799 p.L267I 0.629 NULL NULL - no_errors TMEM79 HGNC ENSG00000163472 tier1 - - 51 0 0.00 35 9 20.45 58 0 0.00 40 3 6.98 CYP11B2 0 genome.wustl.edu 37 8 143996608 143996608 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 8 143996608 143996608 G A SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known missense c.449 p.S150L 0.139 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 tier1 - - 43 0 0.00 36 6 14.29 8 0 0.00 23 2 8.00 TMCO5B 0 genome.wustl.edu 37 15 33529073 33529073 + R SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 15 33529073 33529073 G A SNP TMCO5B ENST00000529696 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors TMCO5B HGNC ENSG00000215296 tier1 - - 42 0 0.00 37 10 21.28 31 0 0.00 37 2 5.00 NCAM1 0 genome.wustl.edu 37 11 113102894 113102894 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 11 113102894 113102894 G A SNP NCAM1 ENST00000316851 human ensembl 74_37 +1 known missense c.1213 p.A405T 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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 tier1 - - 28 0 0.00 21 7 24.14 40 0 0.00 37 2 5.13 SEPT4 0 genome.wustl.edu 37 17 56599400 56599400 + Missense_Mutation SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 17 56599400 56599400 C T SNP SEPT4 ENST00000457347 human ensembl 74_37 -1 known missense c.770 p.G257D 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT4 HGNC ENSG00000108387 tier1 - - 36 0 0.00 38 4 9.52 37 0 0.00 50 2 3.85 MAP3K9 0 genome.wustl.edu 37 14 71199670 71199670 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 14 71199670 71199670 G A SNP MAP3K9 ENST00000555993 human ensembl 74_37 -1 known missense c.2458 p.R820W 0.996 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K9 HGNC ENSG00000006432 tier1 - - 49 0 0.00 44 11 20.00 78 0 0.00 54 3 5.26 RSPH4A 0 genome.wustl.edu 37 6 116938393 116938393 + Missense_Mutation SNP G G C TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 116938393 116938393 G C SNP RSPH4A ENST00000229554 human ensembl 74_37 +1 known missense c.607 p.A203P 0.136 NULL pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 tier1 - - 44 0 0.00 36 4 10.00 43 0 0.00 45 3 6.25 ZNF526 0 genome.wustl.edu 37 19 42730292 42730292 + Silent SNP C C T TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 19 42730292 42730292 C T SNP ZNF526 ENST00000301215 human ensembl 74_37 +1 known silent c.1737 p.G579 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 tier1 - - 63 0 0.00 54 5 8.47 20 0 0.00 24 2 7.69 TRIM26 0 genome.wustl.edu 37 6 30153712 30153712 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 6 30153712 30153712 G A SNP TRIM26 ENST00000437089 human ensembl 74_37 -1 known missense c.1561 p.R521C 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 tier1 - - 40 0 0.00 25 6 19.35 63 0 0.00 70 2 2.67 WWC1 0 genome.wustl.edu 37 5 167849098 167849098 + Frame_Shift_Del DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 5 167849098 167849098 A - DEL WWC1 ENST00000265293 human ensembl 74_37 +1 known frame_shift_del c.1270 p.S425fs 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 tier1 22 0 0.00 31 8 20.51 19 0 0.00 31 2 6.06 PIK3R3 0 genome.wustl.edu 37 1 46509105 46509106 + R INS - - A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 1 46509105 46509106 - A INS PIK3R3 ENST00000488808 human ensembl 74_37 -1 known rna NULL NULL 0.168:0.001 - - - no_errors PIK3R3 HGNC ENSG00000117461 tier1 24 0 0.00 29 8 21.62 29 0 0.00 54 3 5.26 ENSG00000232675 0 genome.wustl.edu 37 20 19673862 19673863 + R INS - - TT TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8fc56a38-29d4-4399-bf98-d32e7186235a 08c672de-4763-4be1-856b-78960511fd90 20 19673862 19673863 - TT INS ENSG00000232675 ENST00000435992 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP4-718D20.3 Clone_based_vega_gene ENSG00000232675 tier1 9 0 0.00 24 3 11.11 27 0 0.00 31 3 8.82