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 ZC3H12B 0 genome.wustl.edu 37 X 64722228 64722228 + Silent SNP T T A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 X 64722228 64722228 T A SNP ZC3H12B ENST00000338957 human ensembl 74_37 +1 known silent c.1650 p.G550 0.745 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 tier1 - - 36 0 0.00 23 24 51.06 FGA 0 genome.wustl.edu 37 4 155507241 155507241 + Missense_Mutation SNP T T A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 4 155507241 155507241 T A SNP FGA ENST00000302053 human ensembl 74_37 -1 known missense c.1340 p.E447V 0.992 pfam_Fibrinogen_aC pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 tier1 - - 76 0 0.00 55 12 17.91 DROSHA 0 genome.wustl.edu 37 5 31424571 31424571 + Missense_Mutation SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 5 31424571 31424571 C T SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.3224 p.R1075H 1.000 superfamily_RNase_III_dom,smart_RNase_III_dom 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 50 8 13.79 KRCC1 0 genome.wustl.edu 37 2 88327723 88327723 + Frame_Shift_Del DEL A A - TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 2 88327723 88327723 A - DEL KRCC1 ENST00000347055 human ensembl 74_37 -1 known frame_shift_del c.360 p.F120fs 0.004 NULL NULL - no_errors KRCC1 HGNC ENSG00000172086 tier1 77 0 0.00 90 11 10.89 ENSG00000173213 0 genome.wustl.edu 37 18 49208 49208 + Missense_Mutation SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 18 49208 49208 G A SNP ENSG00000173213 ENST00000573909 human ensembl 74_37 -1 putative missense c.11 p.P4L 0.997 NULL pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 tier1 - - 49 0 0.00 35 8 18.60 NUGGC 0 genome.wustl.edu 37 8 27927797 27927797 + Silent SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 8 27927797 27927797 G A SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known silent c.120 p.P40 0.987 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 tier1 - - 36 0 0.00 13 9 40.91 PCID2 0 genome.wustl.edu 37 13 113840342 113840349 + R DEL AAAAACAA AAAAACAA - TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 AAAAACAA AAAAACAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 13 113840342 113840349 AAAAACAA - DEL PCID2 ENST00000493650 human ensembl 74_37 -1 known rna NULL NULL 0.107:0.100:0.088:0.070:0.063:0.051:0.034:0.028 - - - no_errors PCID2 HGNC ENSG00000126226 tier1 ENSG00000238737 0 genome.wustl.edu 37 15 23609668 23609668 + R SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 15 23609668 23609668 C T SNP ENSG00000238737 ENST00000459602 human ensembl 74_37 +1 novel rna NULL NULL 0.015 - - - no_errors AC100756.1 Clone_based_ensembl_gene ENSG00000238737 tier1 - - 147 0 0.00 295 95 24.30 TTC39C 0 genome.wustl.edu 37 18 21660677 21660677 + Missense_Mutation SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 18 21660677 21660677 G T SNP TTC39C ENST00000317571 human ensembl 74_37 +1 known missense c.589 p.A197S 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor - no_errors TTC39C HGNC ENSG00000168234 tier1 - - 65 0 0.00 28 4 12.50 CATSPER1 0 genome.wustl.edu 37 11 65789005 65789005 + Silent SNP C C A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 11 65789005 65789005 C A SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known silent c.1653 p.L551 0.535 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 tier1 - - 68 0 0.00 32 29 47.54 LRRTM2 0 genome.wustl.edu 37 5 138209312 138209313 + Frame_Shift_Del DEL CA CA - TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 5 138209312 138209313 CA - DEL LRRTM2 ENST00000274711 human ensembl 74_37 -1 known frame_shift_del c.938_937 p.W313fs 1.000:1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM2 HGNC ENSG00000146006 tier1 15 0 0.00 11 6 35.29 TEX15 0 genome.wustl.edu 37 8 30701742 30701742 + Missense_Mutation SNP C C A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 8 30701742 30701742 C A SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.4792 p.V1598L 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 tier1 - - 28 0 0.00 14 12 46.15 CDH9 0 genome.wustl.edu 37 5 26988306 26988306 + Silent SNP A A C TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 5 26988306 26988306 A C SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known silent c.135 p.G45 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 33 0 0.00 27 39 59.09 BCORL1 0 genome.wustl.edu 37 X 129147377 129147377 + Missense_Mutation SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 X 129147377 129147377 C T SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known missense c.629 p.S210L 0.476 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 tier1 - - 24 0 0.00 15 14 48.28 FUT1 0 genome.wustl.edu 37 19 49253749 49253749 + Missense_Mutation SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 19 49253749 49253749 C T SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known missense c.790 p.G264S 0.988 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 tier1 - - 87 0 0.00 56 34 37.78 NCOA7 0 genome.wustl.edu 37 6 126136412 126136412 + R SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 6 126136412 126136412 G A SNP NCOA7 ENST00000487635 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors NCOA7 HGNC ENSG00000111912 tier1 - - 47 0 0.00 31 20 39.22 TFR2 0 genome.wustl.edu 37 7 100226977 100226977 + Missense_Mutation SNP C C G TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 7 100226977 100226977 C G SNP TFR2 ENST00000223051 human ensembl 74_37 -1 known missense c.1289 p.G430A 1.000 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC ENSG00000106327 tier1 - - 60 0 0.00 24 55 69.62 UNC79 0 genome.wustl.edu 37 14 94066938 94066938 + Silent SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 14 94066938 94066938 C T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.3396 p.F1132 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 - - 31 0 0.00 31 12 27.91 SKI 0 genome.wustl.edu 37 1 2235884 2235884 + Missense_Mutation SNP G G C TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 1 2235884 2235884 G C SNP SKI ENST00000378536 human ensembl 74_37 +1 known missense c.1627 p.E543Q 1.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_D-bd_dom_put - no_errors SKI HGNC ENSG00000157933 tier1 - - 61 0 0.00 112 65 36.72 CELSR3 0 genome.wustl.edu 37 3 48697124 48697124 + Missense_Mutation SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 3 48697124 48697124 G T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.2944 p.Q982K 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 tier1 - - 64 0 0.00 72 19 20.88 STK32C 0 genome.wustl.edu 37 10 134059421 134059421 + Nonsense_Mutation SNP T T A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 10 134059421 134059421 T A SNP STK32C ENST00000368625 human ensembl 74_37 -1 known nonsense c.340 p.K114* 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 STK32C HGNC ENSG00000165752 tier1 - - 58 0 0.00 33 49 59.76 SNX14 0 genome.wustl.edu 37 6 86215639 86215639 + R SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 6 86215639 86215639 G T SNP SNX14 ENST00000508980 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors SNX14 HGNC ENSG00000135317 tier1 - - 23 0 0.00 24 5 17.24 GSC 0 genome.wustl.edu 37 14 95235493 95235493 + Missense_Mutation SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 14 95235493 95235493 C T SNP GSC ENST00000238558 human ensembl 74_37 -1 known missense c.417 p.M139I 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors GSC HGNC ENSG00000133937 tier1 - - 32 0 0.00 18 4 18.18 CCDC158 0 genome.wustl.edu 37 4 77288467 77288467 + Missense_Mutation SNP T T A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 4 77288467 77288467 T A SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known missense c.1810 p.M604L 0.913 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 tier1 - - 25 0 0.00 20 8 28.57 CRLF2 0 genome.wustl.edu 37 X 1331587 1331587 + R SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 X 1331587 1331587 G T SNP CRLF2 ENST00000467626 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CRLF2 HGNC ENSG00000205755 tier1 - - 52 0 0.00 40 4 9.09 DPYSL5 0 genome.wustl.edu 37 2 27121387 27121387 + Missense_Mutation SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 2 27121387 27121387 G T SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known missense c.20 p.S7I 1.000 superfamily_Metal-dep_hydrolase_composite pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 tier1 - - 54 0 0.00 58 14 19.44 CNBD1 0 genome.wustl.edu 37 8 88296985 88296985 + Missense_Mutation SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 8 88296985 88296985 C T SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.851 p.T284I 0.003 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 tier1 - - 37 0 0.00 46 4 8.00 TRPM4 0 genome.wustl.edu 37 19 49713967 49713967 + Missense_Mutation SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 19 49713967 49713967 G A SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.3329 p.R1110Q 0.799 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 tier1 - - 79 0 0.00 71 40 36.04 C14orf177 0 genome.wustl.edu 37 14 99183433 99183433 + Missense_Mutation SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 14 99183433 99183433 G T SNP C14orf177 ENST00000325812 human ensembl 74_37 +1 known missense c.200 p.G67V 0.001 NULL NULL - no_errors C14orf177 HGNC ENSG00000176605 tier1 - - 41 0 0.00 27 63 70.00 LNPEP 0 genome.wustl.edu 37 5 96360291 96360291 + Missense_Mutation SNP C C G TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 5 96360291 96360291 C G SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known missense c.2628 p.F876L 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 tier1 - - 49 0 0.00 52 13 20.00 OR4C3 0 genome.wustl.edu 37 11 48346842 48346842 + Missense_Mutation SNP T T A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 11 48346842 48346842 T A SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known missense c.350 p.I117N 0.314 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 tier1 - - 119 0 0.00 130 13 9.09 SCRN3 0 genome.wustl.edu 37 2 175292593 175292593 + Missense_Mutation SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 2 175292593 175292593 G T SNP SCRN3 ENST00000272732 human ensembl 74_37 +1 known missense c.1245 p.Q415H 0.001 NULL pfam_Peptidase_C69 - no_errors SCRN3 HGNC ENSG00000144306 tier1 rs79038555 - 39 0 0.00 32 6 15.79 DSG2 0 genome.wustl.edu 37 18 29122725 29122725 + Silent SNP A A C TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 18 29122725 29122725 A C SNP DSG2 ENST00000261590 human ensembl 74_37 +1 known silent c.2244 p.A748 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 tier1 - - 50 0 0.00 27 22 44.90 PAPPA 0 genome.wustl.edu 37 9 119130031 119130031 + Nonsense_Mutation SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 9 119130031 119130031 G T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known nonsense c.4603 p.E1535* 0.372 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 tier1 - - 35 0 0.00 29 4 12.12 ATRX 0 genome.wustl.edu 37 X 76872172 76872172 + Missense_Mutation SNP T T A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 X 76872172 76872172 T A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.5475 p.K1825N 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 84 0 0.00 26 9 25.71 CETP 0 genome.wustl.edu 37 16 57017287 57017287 + Silent SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 16 57017287 57017287 C T SNP CETP ENST00000200676 human ensembl 74_37 +1 known silent c.1371 p.L457 0.999 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer - no_errors CETP HGNC ENSG00000087237 tier1 - - 41 0 0.00 11 20 64.52 OR4N5 0 genome.wustl.edu 37 14 20612593 20612593 + Missense_Mutation SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 14 20612593 20612593 G T SNP OR4N5 ENST00000333629 human ensembl 74_37 +1 known missense c.699 p.K233N 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4N5 HGNC ENSG00000184394 tier1 - - 71 0 0.00 55 20 26.67 SYCP1 0 genome.wustl.edu 37 1 115487553 115487553 + Nonsense_Mutation SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 1 115487553 115487553 C T SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known nonsense c.2104 p.R702* 0.985 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 tier1 - - 44 0 0.00 44 9 16.98 C2orf50 0 genome.wustl.edu 37 2 11284204 11284204 + Silent SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 2 11284204 11284204 G A SNP C2orf50 ENST00000381585 human ensembl 74_37 +1 known silent c.456 p.K152 1.000 NULL NULL - no_errors C2orf50 HGNC ENSG00000150873 tier1 - - 38 0 0.00 34 9 20.93 RNF212 0 genome.wustl.edu 37 4 1087327 1087328 + In_Frame_Ins INS - - CTGCCCAGGCTGGAGCCAGCC TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 4 1087327 1087328 - CTGCCCAGGCTGGAGCCAGCC INS RNF212 ENST00000333673 human ensembl 74_37 -1 known in_frame_ins c.722_721 p.S241in_frame_insWLAPAWAA 0.085:0.000 NULL pfscan_Znf_RING - no_errors RNF212 HGNC ENSG00000178222 tier1 ENSG00000251226 0 genome.wustl.edu 37 11 134605647 134605647 + R SNP A A G TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 11 134605647 134605647 A G SNP ENSG00000251226 ENST00000513405 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-469N6.1 Clone_based_vega_gene ENSG00000251226 tier1 rs113767151 - 113 0 0.00 62 6 8.82 SLC26A8 0 genome.wustl.edu 37 6 35945038 35945038 + Silent SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 6 35945038 35945038 G A SNP SLC26A8 ENST00000355574 human ensembl 74_37 -1 known silent c.1116 p.L372 0.094 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 tier1 - - 61 0 0.00 37 27 42.19 TP53 0 genome.wustl.edu 37 17 7578266 7578266 + Missense_Mutation SNP T T A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 17 7578266 7578266 T A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.583 p.I195F 0.999 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd 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 - - 48 0 0.00 32 24 42.86 FAM86B1 0 genome.wustl.edu 37 8 12044046 12044046 + Missense_Mutation SNP A A T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 8 12044046 12044046 A T SNP FAM86B1 ENST00000448228 human ensembl 74_37 -1 known missense c.455 p.F152Y 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86B1 HGNC ENSG00000186523 tier1 - - 393 0 0.00 433 96 18.15 FLI1 0 genome.wustl.edu 37 11 128642855 128642855 + Missense_Mutation SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 11 128642855 128642855 G T SNP FLI1 ENST00000527786 human ensembl 74_37 +1 known missense c.564 p.L188F 0.997 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors FLI1 HGNC ENSG00000151702 tier1 - - 29 0 0.00 32 4 11.11 FRMD1 0 genome.wustl.edu 37 6 168463585 168463585 + Missense_Mutation SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 6 168463585 168463585 G A SNP FRMD1 ENST00000283309 human ensembl 74_37 -1 known missense c.859 p.H287Y 1.000 pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD1 HGNC ENSG00000153303 tier1 - - 45 0 0.00 46 4 8.00 SMPD1 0 genome.wustl.edu 37 11 6411691 6411691 + R SNP C C A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 11 6411691 6411691 C A SNP SMPD1 ENST00000533196 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SMPD1 HGNC ENSG00000166311 tier1 - - 14 0 0.00 8 5 38.46 RIN2 0 genome.wustl.edu 37 20 19981949 19981950 + R INS - - AGG TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 20 19981949 19981950 - AGG INS RIN2 ENST00000484638 human ensembl 74_37 +1 known rna NULL NULL 0.983:0.793 - - - no_errors RIN2 HGNC ENSG00000132669 tier1 39 0 0.00 49 25 33.78 GRM1 0 genome.wustl.edu 37 6 146625761 146625761 + Missense_Mutation SNP A A G TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 6 146625761 146625761 A G SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.965 p.D322G 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 67 0 0.00 69 11 13.58 DCC 0 genome.wustl.edu 37 18 50451640 50451640 + Missense_Mutation SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 18 50451640 50451640 G T SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.885 p.L295F 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 41 0 0.00 27 3 10.00 SPTA1 0 genome.wustl.edu 37 1 158585053 158585053 + Silent SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 1 158585053 158585053 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.6741 p.Q2247 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 111 0 0.00 76 29 27.62 ENSG00000215067 0 genome.wustl.edu 37 17 6905883 6905883 + Missense_Mutation SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 17 6905883 6905883 G A SNP ENSG00000215067 ENST00000574377 human ensembl 74_37 -1 putative missense c.190 p.H64Y 0.066 NULL NULL - no_errors AC027763.2 Clone_based_vega_gene ENSG00000215067 tier1 - - 41 0 0.00 15 32 68.09 LOC285556 0 genome.wustl.edu 37 4 100570993 100570993 + Missense_Mutation SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 4 100570993 100570993 G A SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative missense c.4813 p.P1605S 0.924 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 59 0 0.00 35 18 33.96 BPIFB3 0 genome.wustl.edu 37 20 31647706 31647706 + Silent SNP T T G TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 20 31647706 31647706 T G SNP BPIFB3 ENST00000375494 human ensembl 74_37 +1 known silent c.396 p.G132 0.997 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 tier1 - - 46 0 0.00 46 18 28.12 MIS18BP1 0 genome.wustl.edu 37 14 45673327 45673327 + Missense_Mutation SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 14 45673327 45673327 G T SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known missense c.3384 p.N1128K 0.935 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 tier1 - - 41 0 0.00 31 4 11.43 MTUS1 0 genome.wustl.edu 37 8 17612997 17612997 + Missense_Mutation SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 8 17612997 17612997 G T SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.320 p.A107E 0.000 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 tier1 - - 58 0 0.00 59 16 21.33 EYS 0 genome.wustl.edu 37 6 65098712 65098712 + Silent SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 6 65098712 65098712 G A SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.5949 p.N1983 0.264 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 27 0 0.00 20 8 27.59 ENSG00000215933 0 genome.wustl.edu 37 X 71372202 71372209 + R DEL CGCGCGCA CGCGCGCA - TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 CGCGCGCA CGCGCGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 X 71372202 71372209 CGCGCGCA - DEL ENSG00000215933 ENST00000401114 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.001:0.015:0.009 - - - no_errors BX119917.1 Clone_based_ensembl_gene ENSG00000215933 tier1 LRTM1 0 genome.wustl.edu 37 3 54952665 54952665 + Missense_Mutation SNP C C A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 3 54952665 54952665 C A SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.859 p.A287S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 tier1 rs200994023 - 48 0 0.00 43 15 25.86 NUMBL 0 genome.wustl.edu 37 19 41173893 41173898 + In_Frame_Del DEL TGCTGT TGCTGT - TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 TGCTGT TGCTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 19 41173893 41173898 TGCTGT - DEL NUMBL ENST00000252891 human ensembl 74_37 -1 known in_frame_del c.1310_1305 p.QQ439in_frame_del 1.000:1.000:1.000:1.000:1.000:0.998 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 tier1 LOC150776 0 genome.wustl.edu 37 2 132277977 132277977 + R SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 2 132277977 132277977 G A SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 0.760 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 tier1 - - 130 1 0.76 119 30 20.00 ZNF584 0 genome.wustl.edu 37 19 58928651 58928651 + Missense_Mutation SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 19 58928651 58928651 G A SNP ZNF584 ENST00000306910 human ensembl 74_37 +1 known missense c.766 p.A256T 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF584 HGNC ENSG00000171574 tier1 - - 45 0 0.00 15 19 55.88 KRT121P 0 genome.wustl.edu 37 12 52651996 52651996 + R SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 12 52651996 52651996 C T SNP KRT121P ENST00000529785 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT121P HGNC ENSG00000135477 tier1 - - 179 0 0.00 127 55 30.22 CDK9 0 genome.wustl.edu 37 9 130549788 130549788 + R SNP C C G TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 9 130549788 130549788 C G SNP CDK9 ENST00000491521 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CDK9 HGNC ENSG00000136807 tier1 - - 44 0 0.00 35 7 16.67 OR51G1 0 genome.wustl.edu 37 11 4945070 4945070 + Missense_Mutation SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 11 4945070 4945070 C T SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known missense c.500 p.R167H 0.181 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 tier1 - - 48 0 0.00 38 14 26.42 IMPACT 0 genome.wustl.edu 37 18 22029853 22029853 + Missense_Mutation SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 18 22029853 22029853 G T SNP IMPACT ENST00000284202 human ensembl 74_37 +1 known missense c.830 p.R277L 1.000 pfam_Impact_N,superfamily_Ribosomal_S5_D2-typ_fold pfam_Impact_N,pfam_RWD-domain,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors IMPACT HGNC ENSG00000154059 tier1 - - 50 0 0.00 31 4 11.43 SKI 0 genome.wustl.edu 37 1 2235296 2235296 + Missense_Mutation SNP G G C TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 1 2235296 2235296 G C SNP SKI ENST00000378536 human ensembl 74_37 +1 known missense c.1229 p.S410T 1.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_D-bd_dom_put - no_errors SKI HGNC ENSG00000157933 tier1 - - 74 0 0.00 113 76 40.21 PIK3C2G 0 genome.wustl.edu 37 12 18715824 18715824 + Missense_Mutation SNP A A T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 12 18715824 18715824 A T SNP PIK3C2G ENST00000538779 human ensembl 74_37 +1 known missense c.3778 p.N1260Y 0.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 tier1 - - 34 0 0.00 16 13 44.83 VPS35 0 genome.wustl.edu 37 16 46696380 46696380 + Nonsense_Mutation SNP A A C TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 16 46696380 46696380 A C SNP VPS35 ENST00000299138 human ensembl 74_37 -1 known nonsense c.1842 p.Y614* 1.000 pfam_VPS35,superfamily_ARM-type_fold pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC ENSG00000069329 tier1 - - 61 0 0.00 32 15 31.91 ANKRD35 0 genome.wustl.edu 37 1 145561425 145561425 + Silent SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 1 145561425 145561425 G A SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known silent c.1113 p.Q371 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 tier1 - - 21 0 0.00 24 8 25.00 ANGEL1 0 genome.wustl.edu 37 14 77275799 77275799 + Frame_Shift_Del DEL T T - TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 14 77275799 77275799 T - DEL ANGEL1 ENST00000251089 human ensembl 74_37 -1 known frame_shift_del c.252 p.G85fs 0.782 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL1 HGNC ENSG00000013523 tier1 44 0 0.00 14 2 12.50 FLJ36000 0 genome.wustl.edu 37 17 21911364 21911364 + R SNP T T A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 17 21911364 21911364 T A SNP FLJ36000 ENST00000581223 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 tier1 - - 21 0 0.00 14 15 51.72 SMARCA4 0 genome.wustl.edu 37 19 11094868 11094868 + Missense_Mutation SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 19 11094868 11094868 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.41 p.P14L 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_D-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_D-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 94 0 0.00 44 43 49.43 DLC1 0 genome.wustl.edu 37 8 13162758 13162758 + Silent SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 8 13162758 13162758 G A SNP DLC1 ENST00000511869 human ensembl 74_37 -1 novel silent c.1368 p.F456 0.000 NULL NULL - no_errors DLC1 HGNC ENSG00000164741 tier1 - - 58 0 0.00 39 7 15.22 GPC5 0 genome.wustl.edu 37 13 92345903 92345903 + Missense_Mutation SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 13 92345903 92345903 G A SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.788 p.G263D 0.915 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 tier1 - - 45 0 0.00 16 26 61.90 UNC80 0 genome.wustl.edu 37 2 210837868 210837868 + Missense_Mutation SNP A A G TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 2 210837868 210837868 A G SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.8263 p.S2755G 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 rs201695718 - 36 0 0.00 21 4 16.00 LOC100131347 0 genome.wustl.edu 37 17 37263888 37263888 + R SNP A A T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 17 37263888 37263888 A T SNP LOC100131347 ENST00000578423 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2206N4.4 Clone_based_vega_gene ENSG00000263818 tier1 - - 49 0 0.00 13 22 62.86 ENSG00000215067 0 genome.wustl.edu 37 17 6905806 6905806 + Missense_Mutation SNP G G C TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 17 6905806 6905806 G C SNP ENSG00000215067 ENST00000574377 human ensembl 74_37 -1 putative missense c.267 p.F89L 0.016 NULL NULL - no_errors AC027763.2 Clone_based_vega_gene ENSG00000215067 tier1 - - 85 0 0.00 49 55 52.88 NEAT1 0 genome.wustl.edu 37 11 65212047 65212047 + R SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 11 65212047 65212047 C T SNP NEAT1 ENST00000501122 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NEAT1 HGNC ENSG00000245532 tier1 - - 35 0 0.00 25 17 40.48 BRINP3 0 genome.wustl.edu 37 1 190234179 190234179 + Missense_Mutation SNP T T A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 1 190234179 190234179 T A SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.434 p.E145V 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 47 0 0.00 23 27 52.94 DOCK8 0 genome.wustl.edu 37 9 311953 311953 + Splice_Site SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 9 311953 311953 G A SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known splice_site c.529-1 e6-1 0.979 - - - no_errors DOCK8 HGNC ENSG00000107099 tier1 - - 56 0 0.00 53 15 22.06 ENSG00000221096 0 genome.wustl.edu 37 15 59443246 59443246 + R SNP A A G TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 15 59443246 59443246 A G SNP ENSG00000221096 ENST00000408169 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors AC092757.1 Clone_based_ensembl_gene ENSG00000221096 tier1 - - 14 0 0.00 15 5 25.00 USP50 0 genome.wustl.edu 37 15 50835876 50835876 + Silent SNP T T G TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 15 50835876 50835876 T G SNP USP50 ENST00000532404 human ensembl 74_37 -1 known silent c.363 p.P121 0.017 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP50 HGNC ENSG00000170236 tier1 - - 45 0 0.00 15 24 61.54 MSLN 0 genome.wustl.edu 37 16 816740 816740 + Missense_Mutation SNP G G A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 16 816740 816740 G A SNP MSLN ENST00000382862 human ensembl 74_37 +1 known missense c.1327 p.A443T 0.000 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC ENSG00000102854 tier1 - - 69 0 0.00 48 21 30.43 ELMSAN1 0 genome.wustl.edu 37 14 74186107 74186107 + Nonsense_Mutation SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 14 74186107 74186107 G T SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known nonsense c.3035 p.S1012* 0.987 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 tier1 - - 43 0 0.00 40 4 9.09 DNM1P34 0 genome.wustl.edu 37 15 75592652 75592652 + R SNP T T C TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 15 75592652 75592652 T C SNP DNM1P34 ENST00000567292 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors DNM1P34 HGNC ENSG00000260357 tier1 - - 25 0 0.00 17 6 26.09 MMP24 0 genome.wustl.edu 37 20 33851607 33851607 + Silent SNP C C T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 20 33851607 33851607 C T SNP MMP24 ENST00000246186 human ensembl 74_37 +1 known silent c.831 p.F277 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP24 HGNC ENSG00000125966 tier1 - - 82 0 0.00 64 48 42.86 MMP26 0 genome.wustl.edu 37 11 5012728 5012728 + Splice_Site SNP T T C TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 11 5012728 5012728 T C SNP MMP26 ENST00000300762 human ensembl 74_37 +1 known splice_site c.595+2 e4+2 0.992 - - - no_errors MMP26 HGNC ENSG00000167346 tier1 - - 130 0 0.00 115 25 17.86 SYNE2 0 genome.wustl.edu 37 14 64532361 64532361 + Missense_Mutation SNP G G T TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 14 64532361 64532361 G T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.10424 p.S3475I 0.999 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 43 0 0.00 54 5 8.47 SAMM50 0 genome.wustl.edu 37 22 44359061 44359061 + R SNP C C A TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 22 44359061 44359061 C A SNP SAMM50 ENST00000493161 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SAMM50 HGNC ENSG00000100347 tier1 - - 17 0 0.00 3 10 76.92 PDCL 0 genome.wustl.edu 37 9 125585434 125585434 + Missense_Mutation SNP A A C TCGA-KF-A41W-01A-11D-A24N-09 TCGA-KF-A41W-11A-11D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a4bb569a-6cf7-4dfc-98d7-12cfaac76cdc 0cc19c64-6b2f-4150-a12f-d6fd1d3a10e7 9 125585434 125585434 A C SNP PDCL ENST00000259467 human ensembl 74_37 -1 known missense c.215 p.L72W 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDCL HGNC ENSG00000136940 tier1 - - 101 0 0.00 96 11 10.28