Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA12 0 genome.wustl.edu 37 2 215831608 215831608 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 215831608 215831608 G A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known nonsense c.5848 p.R1950* 0.996 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 78 0 0.00 41 28 40.00 ABTB1 0 genome.wustl.edu 37 3 127396600 127396600 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 3 127396600 127396600 G - DEL ABTB1 ENST00000232744 human ensembl 74_37 +1 known frame_shift_del c.943 p.G316fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB1 HGNC ENSG00000114626 tier1 36 0 0.00 37 2 5.13 ACSM2A 0 genome.wustl.edu 37 16 20487005 20487005 + Silent SNP T T C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 16 20487005 20487005 T C SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known silent c.1008 p.T336 0.005 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 tier1 - - 206 0 0.00 174 24 12.12 ACTN2 0 genome.wustl.edu 37 1 236908017 236908017 + Silent SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 1 236908017 236908017 C T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known silent c.1347 p.S449 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 tier1 - - 48 0 0.00 33 18 35.29 ADAMTS20 0 genome.wustl.edu 37 12 43944900 43944900 + Missense_Mutation SNP A A T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 12 43944900 43944900 A T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.265 p.F89I 1.000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 60 0 0.00 54 14 20.59 AGPAT9 0 genome.wustl.edu 37 4 84502766 84502766 + Missense_Mutation SNP G G T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 4 84502766 84502766 G T SNP AGPAT9 ENST00000264409 human ensembl 74_37 +1 known missense c.260 p.R87L 0.996 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT9 HGNC ENSG00000138678 tier1 - - 121 0 0.00 90 9 9.09 AKAP13 0 genome.wustl.edu 37 15 86122174 86122174 + Missense_Mutation SNP A A G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 15 86122174 86122174 A G SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.875 p.K292R 0.984 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 tier1 - - 100 0 0.00 100 13 11.50 ARHGAP35 0 genome.wustl.edu 37 19 47423073 47423073 + Missense_Mutation SNP G G T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 19 47423073 47423073 G T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.1141 p.V381F 1.000 smart_FF_domain pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 tier1 - - 124 0 0.00 82 6 6.82 ARMC4 0 genome.wustl.edu 37 10 28149595 28149595 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 10 28149595 28149595 C T SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.2980 p.A994T 0.003 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 tier1 - - 135 0 0.00 136 22 13.92 ASB5 0 genome.wustl.edu 37 4 177142395 177142395 + Missense_Mutation SNP A A C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 4 177142395 177142395 A C SNP ASB5 ENST00000296525 human ensembl 74_37 -1 known missense c.581 p.V194G 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB5 HGNC ENSG00000164122 54 0 0.00 41 4 8.89 ASXL1 0 genome.wustl.edu 37 20 31023116 31023116 + Silent SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 20 31023116 31023116 G A SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known silent c.2601 p.G867 0.035 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 - - 174 0 0.00 183 42 18.58 ATR 0 genome.wustl.edu 37 3 142274959 142274959 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 3 142274959 142274959 C T SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.2101 p.D701N 0.997 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 tier1 - - 96 0 0.00 77 12 13.48 AXIN2 0 genome.wustl.edu 37 17 63526194 63526194 + Missense_Mutation SNP T T C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 17 63526194 63526194 T C SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known missense c.2432 p.E811G 1.000 pfam_DIX,smart_DIX,pfscan_DIX pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 tier1 - - 135 0 0.00 203 12 5.56 BTF3 0 genome.wustl.edu 37 5 72798943 72798943 + Splice_Site SNP G G C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 5 72798943 72798943 G C SNP BTF3 ENST00000380591 human ensembl 74_37 +1 known splice_site c.517+1 e4+1 1.000 - - - no_errors BTF3 HGNC ENSG00000145741 47 0 0.00 36 13 26.53 BTRC 0 genome.wustl.edu 37 10 103292069 103292069 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 10 103292069 103292069 G A SNP BTRC ENST00000370187 human ensembl 74_37 +1 known nonsense c.858 p.W286* 1.000 superfamily_F-box_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BTRC HGNC ENSG00000166167 tier1 - - 178 0 0.00 159 10 5.92 C11orf53 0 genome.wustl.edu 37 11 111156703 111156703 + Missense_Mutation SNP T T A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 11 111156703 111156703 T A SNP C11orf53 ENST00000280325 human ensembl 74_37 +1 known missense c.635 p.L212H 0.781 NULL NULL - no_errors C11orf53 HGNC ENSG00000150750 tier1 - - 79 0 0.00 54 10 15.62 C17orf98 0 genome.wustl.edu 37 17 36991540 36991540 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 17 36991540 36991540 C T SNP C17orf98 ENST00000398575 human ensembl 74_37 -1 known missense c.367 p.D123N 0.000 NULL NULL - no_errors C17orf98 HGNC ENSG00000214556 tier1 - - 75 0 0.00 49 13 20.97 C19orf26 0 genome.wustl.edu 37 19 1235842 1235842 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 19 1235842 1235842 C T SNP C19orf26 ENST00000382477 human ensembl 74_37 -1 known missense c.163 p.V55M 1.000 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 tier1 - - 74 0 0.00 103 6 5.50 CD151 0 genome.wustl.edu 37 11 837509 837509 + Missense_Mutation SNP G G C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 11 837509 837509 G C SNP CD151 ENST00000322008 human ensembl 74_37 +1 known missense c.506 p.W169S 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD151 HGNC ENSG00000177697 69 0 0.00 60 5 7.69 CDH11 0 genome.wustl.edu 37 16 65005898 65005898 + Missense_Mutation SNP T T G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 16 65005898 65005898 T G SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1460 p.K487T 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 57 0 0.00 41 10 19.61 CDYL2 0 genome.wustl.edu 37 16 80654773 80654773 + Silent SNP C C A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 16 80654773 80654773 C A SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known silent c.894 p.L298 1.000 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 tier1 - - 38 0 0.00 25 6 19.35 CEACAM5 0 genome.wustl.edu 37 19 42231183 42231183 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 19 42231183 42231183 G A SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known missense c.2056 p.G686R 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 tier1 - - 421 0 0.00 502 55 9.87 CECR2 0 genome.wustl.edu 37 22 17956188 17956188 + Missense_Mutation SNP T T C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 22 17956188 17956188 T C SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.47 p.L16S 0.001 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 19 0 0.00 3 4 57.14 CLCN5 0 genome.wustl.edu 37 X 49851324 49851324 + Missense_Mutation SNP A A C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 X 49851324 49851324 A C SNP CLCN5 ENST00000376088 human ensembl 74_37 +1 known missense c.1354 p.S452R 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC ENSG00000171365 tier1 - - 122 0 0.00 88 18 16.98 CNTN6 0 genome.wustl.edu 37 3 1424637 1424637 + Silent SNP A A G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 3 1424637 1424637 A G SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.2178 p.E726 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 tier1 - - 61 0 0.00 42 11 20.75 COL20A1 0 genome.wustl.edu 37 20 61950450 61950450 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 20 61950450 61950450 G A SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.2704 p.V902I 0.957 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G 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 COL20A1 HGNC ENSG00000101203 tier1 - - 52 0 0.00 52 26 33.33 COL24A1 0 genome.wustl.edu 37 1 86591467 86591467 + Silent SNP T T C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 1 86591467 86591467 T C SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known silent c.552 p.K184 0.422 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 tier1 - - 65 0 0.00 34 5 12.82 COX5B 0 genome.wustl.edu 37 2 98263891 98263892 + In_Frame_Ins INS - - TAG TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 98263891 98263892 0 TAG INS COX5B ENST00000258424 human ensembl 74_37 +1 known in_frame_ins c.262_263 p.90in_frame_insV 1.000:1.000 pfam_Cyt_c_oxidase_su5b pfam_Cyt_c_oxidase_su5b - no_errors COX5B HGNC ENSG00000135940 130 0 0.00 170 14 7.61 CPD 0 genome.wustl.edu 37 17 28749859 28749859 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 17 28749859 28749859 C T SNP CPD ENST00000225719 human ensembl 74_37 +1 known missense c.1475 p.S492F 0.812 NULL pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 tier1 - - 163 0 0.00 142 32 18.29 CPSF3L 0 genome.wustl.edu 37 1 1254783 1254783 + Missense_Mutation SNP G G C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 1 1254783 1254783 G C SNP CPSF3L ENST00000540437 human ensembl 74_37 -1 known missense c.340 p.R114G 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 tier1 - - 139 0 0.00 142 10 6.58 CREB5 0 genome.wustl.edu 37 7 28610048 28610048 + Silent SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 7 28610048 28610048 C T SNP CREB5 ENST00000357727 human ensembl 74_37 +1 known silent c.357 p.S119 0.806 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 tier1 - - 79 0 0.00 91 6 6.19 CSMD3 0 genome.wustl.edu 37 8 113318395 113318395 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 8 113318395 113318395 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.7912 p.P2638S 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 63 0 0.00 61 6 8.96 CTNNA2 0 genome.wustl.edu 37 2 80773050 80773050 + Missense_Mutation SNP A A C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 80773050 80773050 A C SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.1504 p.T502P 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 36 0 0.00 30 8 21.05 DAB2IP 0 genome.wustl.edu 37 9 124528939 124528939 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 9 124528939 124528939 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.1627 p.P543S 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 tier1 - - 135 0 0.00 151 10 6.17 DNAH9 0 genome.wustl.edu 37 17 11725297 11725297 + Missense_Mutation SNP A A C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 17 11725297 11725297 A C SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.8768 p.N2923T 1.000 superfamily_P-loop_NTPase 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 DNAH9 HGNC ENSG00000007174 tier1 - - 65 0 0.00 48 8 14.29 DOCK10 0 genome.wustl.edu 37 2 225630444 225630444 + Missense_Mutation SNP T T G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 225630444 225630444 T G SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.6555 p.E2185D 0.001 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 tier1 - - 26 0 0.00 11 6 35.29 DSEL 0 genome.wustl.edu 37 18 65178235 65178235 + Missense_Mutation SNP C C A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 18 65178235 65178235 C A SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.3641 p.R1214L 0.038 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 77 0 0.00 58 21 26.58 EHD1 0 genome.wustl.edu 37 11 64627508 64627508 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 11 64627508 64627508 C T SNP EHD1 ENST00000320631 human ensembl 74_37 -1 known missense c.803 p.R268H 1.000 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 tier1 - - 69 0 0.00 38 4 9.52 ENSG00000257913 0 genome.wustl.edu 37 12 49412436 49412436 + RNA SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 12 49412436 49412436 C T SNP ENSG00000257913 ENST00000547395 human ensembl 74_37 +1 known rna NULL NULL 0.515 - - - no_errors RP11-386G11.5 Clone_based_vega_gene ENSG00000257913 tier1 - - 57 0 0.00 54 17 23.61 ENSG00000270002 0 genome.wustl.edu 37 10 87406950 87406950 + RNA SNP C C G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 10 87406950 87406950 C G SNP ENSG00000270002 ENST00000474115 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-93H12.4 Clone_based_vega_gene ENSG00000270002 tier1 - - 200 0 0.00 172 23 11.79 EPB41L3 0 genome.wustl.edu 37 18 5394733 5394733 + Missense_Mutation SNP T T G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 18 5394733 5394733 T G SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.3213 p.K1071N 1.000 pirsf_Band_41_protein,pfam_Band_4.1_C pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 169 0 0.00 151 23 13.22 EPPK1 0 genome.wustl.edu 37 8 144941697 144941697 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 8 144941697 144941697 C - DEL EPPK1 ENST00000525985 human ensembl 74_37 -1 known frame_shift_del c.5725 p.E1909fs 0.145 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 tier1 31 0 0.00 58 27 31.76 EPPK1 0 genome.wustl.edu 37 8 144941694 144941694 + Missense_Mutation SNP C C G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 8 144941694 144941694 C G SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.5728 p.V1910L 0.189 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 33 0 0.00 58 27 31.76 EPPK1 0 genome.wustl.edu 37 8 144945500 144945500 + Missense_Mutation SNP A A G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 8 144945500 144945500 A G SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.1922 p.L641P 0.781 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 16 0 0.00 78 15 16.13 EPPK1 0 genome.wustl.edu 37 8 144945514 144945514 + Silent SNP C C A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 8 144945514 144945514 C A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.1908 p.R636 0.748 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 15 0 0.00 62 10 13.89 ERMARD 0 genome.wustl.edu 37 6 170156448 170156448 + Missense_Mutation SNP A A G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 6 170156448 170156448 A G SNP ERMARD ENST00000366773 human ensembl 74_37 +1 known missense c.330 p.I110M 0.239 NULL NULL - no_errors ERMARD HGNC ENSG00000130023 tier1 - - 54 0 0.00 34 17 33.33 F8 0 genome.wustl.edu 37 X 154133116 154133116 + Missense_Mutation SNP T T G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 X 154133116 154133116 T G SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.5556 p.K1852N 0.975 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 tier1 - - 104 0 0.00 78 9 10.34 FBLL1 0 genome.wustl.edu 37 5 167957463 167957463 + Silent SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 5 167957463 167957463 C T SNP FBLL1 ENST00000338333 human ensembl 74_37 +1 putative silent c.954 p.H318 1.000 pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBLL1 HGNC ENSG00000188573 tier1 - - 36 0 0.00 18 4 18.18 FGA 0 genome.wustl.edu 37 4 155507126 155507126 + Silent SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 4 155507126 155507126 G A SNP FGA ENST00000302053 human ensembl 74_37 -1 known silent c.1455 p.S485 0.000 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 - - 146 0 0.00 78 31 28.44 FGF13 0 genome.wustl.edu 37 X 137717719 137717719 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 X 137717719 137717719 C T SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known missense c.530 p.R177Q 1.000 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,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 tier1 - - 121 0 0.00 97 27 21.77 FRMPD3 0 genome.wustl.edu 37 X 106841057 106841059 + In_Frame_Del DEL GAG GAG - TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 X 106841057 106841059 GAG - DEL FRMPD3 ENST00000276185 human ensembl 74_37 +1 known in_frame_del c.2047_2049 p.E686in_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 9 0 0.00 5 2 28.57 GAB1 0 genome.wustl.edu 37 4 144387374 144387374 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 4 144387374 144387374 G A SNP GAB1 ENST00000262995 human ensembl 74_37 +1 known missense c.2012 p.R671H 0.999 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC ENSG00000109458 tier1 - - 95 0 0.00 48 12 20.00 GABRG1 0 genome.wustl.edu 37 4 46067470 46067470 + Silent SNP T T C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 4 46067470 46067470 T C SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known silent c.453 p.R151 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 tier1 - - 74 0 0.00 44 8 15.38 GALE 0 genome.wustl.edu 37 1 24124802 24124802 + RNA SNP T T C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 1 24124802 24124802 T C SNP GALE ENST00000467493 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors GALE HGNC ENSG00000117308 tier1 - - 10 0 0.00 3 5 62.50 GPC3 0 genome.wustl.edu 37 X 132887801 132887801 + Missense_Mutation SNP T T G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 X 132887801 132887801 T G SNP GPC3 ENST00000394299 human ensembl 74_37 -1 known missense c.740 p.K247T 1.000 pfam_Glypican pfam_Glypican - no_errors GPC3 HGNC ENSG00000147257 139 0 0.00 134 13 8.84 GPR158 0 genome.wustl.edu 37 10 25886814 25886814 + Silent SNP C C A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 10 25886814 25886814 C A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.2259 p.S753 0.957 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 182 0 0.00 169 14 7.65 GRM1 0 genome.wustl.edu 37 6 146480528 146480528 + Missense_Mutation SNP G G T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 6 146480528 146480528 G T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.745 p.A249S 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 41 11 21.15 GSPT2 0 genome.wustl.edu 37 X 51487891 51487891 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 X 51487891 51487891 G A SNP GSPT2 ENST00000340438 human ensembl 74_37 +1 known missense c.1169 p.C390Y 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 104 0 0.00 71 4 5.33 GSTT2B 0 genome.wustl.edu 37 22 24300607 24300607 + Silent SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 22 24300607 24300607 C T SNP GSTT2B ENST00000290765 human ensembl 74_37 -1 known silent c.390 p.E130 0.452 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors GSTT2B HGNC ENSG00000133433 tier1 - - 41 0 0.00 16 10 38.46 HEATR4 0 genome.wustl.edu 37 14 73988986 73988986 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 14 73988986 73988986 C T SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.871 p.V291I 0.981 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 tier1 - - 136 0 0.00 132 10 7.04 HERC1 0 genome.wustl.edu 37 15 64067372 64067372 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 15 64067372 64067372 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.451 p.R151W 0.974 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 174 0 0.00 168 64 27.59 HIVEP2 0 genome.wustl.edu 37 6 143093607 143093607 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 6 143093607 143093607 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.2269 p.R757C 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 tier1 - - 43 0 0.00 34 8 19.05 HTR7 0 genome.wustl.edu 37 10 92508605 92508605 + Missense_Mutation SNP T T G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 10 92508605 92508605 T G SNP HTR7 ENST00000336152 human ensembl 74_37 -1 known missense c.1286 p.E429A 0.997 prints_5HT_7_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 tier1 - - 112 0 0.00 111 19 14.62 IDH1 0 genome.wustl.edu 37 2 209110090 209110090 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 209110090 209110090 G A SNP IDH1 ENST00000345146 human ensembl 74_37 -1 known missense c.473 p.P158L 0.997 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH1 HGNC ENSG00000138413 tier1 - - 157 0 0.00 174 13 6.95 IPCEF1 0 genome.wustl.edu 37 6 154520839 154520839 + Silent SNP G G T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 6 154520839 154520839 G T SNP IPCEF1 ENST00000367220 human ensembl 74_37 -1 known silent c.873 p.V291 0.986 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC ENSG00000074706 tier1 - - 127 0 0.00 73 23 23.96 KCNK9 0 genome.wustl.edu 37 8 140630697 140630697 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 8 140630697 140630697 C T SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.929 p.R310H 0.990 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 tier1 - - 79 0 0.00 100 15 13.04 KHDRBS2 0 genome.wustl.edu 37 6 62995790 62995790 + Missense_Mutation SNP C C A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 6 62995790 62995790 C A SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.64 p.V22L 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 tier1 - - 39 0 0.00 28 5 15.15 KIAA1217 0 genome.wustl.edu 37 10 24832088 24832088 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 10 24832088 24832088 G A SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.3889 p.E1297K 0.652 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 tier1 - - 87 0 0.00 99 13 11.61 KRTAP1-1 0 genome.wustl.edu 37 17 39197159 39197159 + Missense_Mutation SNP C C A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 17 39197159 39197159 C A SNP KRTAP1-1 ENST00000306271 human ensembl 74_37 -1 known missense c.491 p.C164F 1.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-1 HGNC ENSG00000188581 tier1 - - 47 0 0.00 28 212 88.33 LAMA1 0 genome.wustl.edu 37 18 7013975 7013975 + Missense_Mutation SNP T T G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 18 7013975 7013975 T G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.3202 p.K1068Q 0.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,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 - no_errors LAMA1 HGNC ENSG00000101680 29 0 0.00 15 3 16.67 LDLRAD3 0 genome.wustl.edu 37 11 36248918 36248918 + Silent SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 11 36248918 36248918 G A SNP LDLRAD3 ENST00000315571 human ensembl 74_37 +1 known silent c.738 p.A246 0.428 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLRAD3 HGNC ENSG00000179241 tier1 rs146712517 - 91 0 0.00 62 16 20.51 LRP1 0 genome.wustl.edu 37 12 57549993 57549993 + Silent SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 12 57549993 57549993 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.1344 p.T448 0.181 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 rs150414361 - 88 0 0.00 71 17 19.32 LRRC8A 0 genome.wustl.edu 37 9 131678487 131678487 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 9 131678487 131678487 C T SNP LRRC8A ENST00000259324 human ensembl 74_37 +1 known missense c.2270 p.T757M 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 tier1 - - 53 0 0.00 72 6 7.69 MAG 0 genome.wustl.edu 37 19 35802885 35802885 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 19 35802885 35802885 G A SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.1681 p.D561N 0.998 NULL pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 tier1 rs201165241 - 19 0 0.00 10 7 41.18 MAGEC1 0 genome.wustl.edu 37 X 140996082 140996082 + Silent SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 X 140996082 140996082 C T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.2892 p.S964 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 276 0 0.00 216 23 9.62 MAP2 0 genome.wustl.edu 37 2 210558039 210558039 + Missense_Mutation SNP C C G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 210558039 210558039 C G SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.1145 p.A382G 0.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 55 0 0.00 69 9 11.54 MAS1L 0 genome.wustl.edu 37 6 29455077 29455077 + Silent SNP A A C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 6 29455077 29455077 A C SNP MAS1L ENST00000377127 human ensembl 74_37 -1 known silent c.603 p.P201 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors MAS1L HGNC ENSG00000204687 tier1 - - 76 0 0.00 68 13 16.05 MAT1A 0 genome.wustl.edu 37 10 82036245 82036245 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 10 82036245 82036245 G A SNP MAT1A ENST00000372213 human ensembl 74_37 -1 known missense c.655 p.R219C 0.994 pfam_S-AdoMet_synt_central,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT1A HGNC ENSG00000151224 tier1 - - 158 0 0.00 119 26 17.93 MICAL3 0 genome.wustl.edu 37 22 18300640 18300640 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 22 18300640 18300640 C T SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.4787 p.R1596H 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 tier1 - - 28 0 0.00 36 7 16.28 MIR182 0 genome.wustl.edu 37 7 129410294 129410294 + RNA SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 7 129410294 129410294 G A SNP MIR182 ENST00000385255 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR182 HGNC ENSG00000207990 tier1 - - 47 0 0.00 18 21 53.85 MIR518D 0 genome.wustl.edu 37 19 54238188 54238188 + RNA SNP C C A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 19 54238188 54238188 C A SNP MIR518D ENST00000385014 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR518D HGNC ENSG00000207747 tier1 - - 102 0 0.00 69 35 33.65 MIR518D 0 genome.wustl.edu 37 19 54238190 54238190 + RNA SNP C C G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 19 54238190 54238190 C G SNP MIR518D ENST00000385014 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MIR518D HGNC ENSG00000207747 tier1 - - 96 0 0.00 66 35 34.65 MIR518D 0 genome.wustl.edu 37 19 54238212 54238212 + RNA SNP T T C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 19 54238212 54238212 T C SNP MIR518D ENST00000385014 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors MIR518D HGNC ENSG00000207747 tier1 - - 63 0 0.00 44 25 36.23 MIR522 0 genome.wustl.edu 37 19 54254493 54254493 + RNA SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 19 54254493 54254493 C T SNP MIR522 ENST00000385071 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors MIR522 HGNC ENSG00000207806 tier1 - - 188 0 0.00 113 35 23.65 MORC1 0 genome.wustl.edu 37 3 108677899 108677899 + Silent SNP A A G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 3 108677899 108677899 A G SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known silent c.2868 p.L956 0.001 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 tier1 - - 65 0 0.00 39 31 44.29 MPZL1 0 genome.wustl.edu 37 1 167734976 167734976 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 1 167734976 167734976 C T SNP MPZL1 ENST00000359523 human ensembl 74_37 +1 known missense c.248 p.T83I 0.001 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0 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 - - 66 0 0.00 67 16 19.28 MTERFD3 0 genome.wustl.edu 37 12 107371941 107371941 + Missense_Mutation SNP A A C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 12 107371941 107371941 A C SNP MTERFD3 ENST00000240050 human ensembl 74_37 -1 known missense c.552 p.N184K 1.000 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 tier1 - - 91 0 0.00 45 25 35.71 MTERFD3 0 genome.wustl.edu 37 12 107371944 107371944 + Missense_Mutation SNP C C A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 12 107371944 107371944 C A SNP MTERFD3 ENST00000240050 human ensembl 74_37 -1 known missense c.549 p.K183N 0.999 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 tier1 - - 87 0 0.00 46 25 35.21 MTMR8 0 genome.wustl.edu 37 X 63445346 63445346 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 X 63445346 63445346 C T SNP MTMR8 ENST00000453546 human ensembl 74_37 -1 known missense c.1310 p.R437H 0.669 superfamily_Ankyrin_rpt-contain_dom pfam_Myotubularin-like_Pase_dom,pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors MTMR8 HGNC ENSG00000102043 tier1 - - 35 0 0.00 37 4 9.76 MUC16 0 genome.wustl.edu 37 19 9066415 9066415 + Nonsense_Mutation SNP T T A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 19 9066415 9066415 T A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known nonsense c.21031 p.R7011* 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 216 0 0.00 131 58 30.69 MUC2 0 genome.wustl.edu 37 11 1104141 1104141 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 11 1104141 1104141 G A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.8332 p.G2778S 0.000 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 tier1 rs41533645 - 21 0 0.00 21 6 22.22 MUC6 0 genome.wustl.edu 37 11 1018202 1018203 + Frame_Shift_Ins INS - - T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 11 1018202 1018203 - T INS MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_ins c.4599_4598 p.H1533fs 0.000:0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 329 0 0.00 255 62 19.56 NCBP1 0 genome.wustl.edu 37 9 100410455 100410455 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 9 100410455 100410455 C T SNP NCBP1 ENST00000375147 human ensembl 74_37 +1 known missense c.847 p.P283S 1.000 superfamily_ARM-type_fold pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC ENSG00000136937 tier1 - - 105 0 0.00 64 6 8.57 NDN 0 genome.wustl.edu 37 15 23931514 23931514 + Missense_Mutation SNP T T C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 15 23931514 23931514 T C SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.851 p.K284R 0.999 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 tier1 - - 58 0 0.00 49 9 15.52 NEB 0 genome.wustl.edu 37 2 152512874 152512874 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 152512874 152512874 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.6288 p.M2096I 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 131 0 0.00 127 7 5.22 NENF 0 genome.wustl.edu 37 1 212619246 212619246 + Silent SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 1 212619246 212619246 C T SNP NENF ENST00000366988 human ensembl 74_37 +1 known silent c.417 p.I139 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd - no_errors NENF HGNC ENSG00000117691 tier1 - - 93 0 0.00 109 7 6.03 NFASC 0 genome.wustl.edu 37 1 204948672 204948672 + Nonsense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 1 204948672 204948672 C T SNP NFASC ENST00000367172 human ensembl 74_37 +1 known nonsense c.2161 p.R721* 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 tier1 - - 141 0 0.00 148 34 18.68 NOMO1 0 genome.wustl.edu 37 16 14966138 14966138 + Missense_Mutation SNP T T C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 16 14966138 14966138 T C SNP NOMO1 ENST00000287667 human ensembl 74_37 +1 known missense c.2006 p.L669P 0.974 NULL pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 tier1 - - 47 0 0.00 34 21 38.18 OR14K1 0 genome.wustl.edu 37 1 247902091 247902091 + Missense_Mutation SNP T T G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 1 247902091 247902091 T G SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.175 p.F59V 0.996 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 OR14K1 HGNC ENSG00000153230 tier1 - - 92 0 0.00 65 35 35.00 OR1E1 0 genome.wustl.edu 37 17 3301356 3301356 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 17 3301356 3301356 C T SNP OR1E1 ENST00000322608 human ensembl 74_37 -1 known missense c.349 p.A117T 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1E1 HGNC ENSG00000180016 tier1 - - 68 0 0.00 57 5 8.06 OR4C13 0 genome.wustl.edu 37 11 49974091 49974091 + Silent SNP A A C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 11 49974091 49974091 A C SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known silent c.117 p.G39 0.385 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 OR4C13 HGNC ENSG00000258817 tier1 - - 206 0 0.00 169 40 19.14 OR4C3 0 genome.wustl.edu 37 11 48346846 48346846 + Silent SNP T T C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 11 48346846 48346846 T C SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known silent c.354 p.S118 0.020 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 - - 337 0 0.00 257 43 14.33 OR4K17 0 genome.wustl.edu 37 14 20586527 20586527 + Missense_Mutation SNP G G T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 14 20586527 20586527 G T SNP OR4K17 ENST00000315543 human ensembl 74_37 +1 known missense c.962 p.R321I 0.894 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K17 HGNC ENSG00000176230 tier1 - - 85 0 0.00 60 6 9.09 OR5J2 0 genome.wustl.edu 37 11 55944805 55944805 + Missense_Mutation SNP T T G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 11 55944805 55944805 T G SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known missense c.712 p.F238V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 tier1 - - 115 0 0.00 72 29 28.71 PCDH15 0 genome.wustl.edu 37 10 55566721 55566721 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 10 55566721 55566721 G A SNP PCDH15 ENST00000414778 human ensembl 74_37 -1 known missense c.4664 p.T1555I 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 108 0 0.00 79 20 20.20 PCDH15 0 genome.wustl.edu 37 10 55912910 55912910 + Silent SNP A A C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 10 55912910 55912910 A C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.1734 p.T578 0.861 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 74 0 0.00 32 29 47.54 PCDH18 0 genome.wustl.edu 37 4 138451605 138451605 + Missense_Mutation SNP T T G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 4 138451605 138451605 T G SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.1638 p.E546D 1.000 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 PCDH18 HGNC ENSG00000189184 tier1 - - 162 0 0.00 77 40 34.19 PCDHA3 0 genome.wustl.edu 37 5 140182226 140182226 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 5 140182226 140182226 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.1444 p.A482T 0.988 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 170 0 0.00 133 26 16.35 PCDHB14 0 genome.wustl.edu 37 5 140605366 140605366 + Silent SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 5 140605366 140605366 G A SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known silent c.2289 p.E763 0.992 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 tier1 - - 142 0 0.00 111 9 7.50 PCLO 0 genome.wustl.edu 37 7 82538193 82538193 + Missense_Mutation SNP T T G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 7 82538193 82538193 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.13437 p.Q4479H 1.000 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 - - 66 0 0.00 42 10 19.23 PDGFRA 0 genome.wustl.edu 37 4 55129926 55129926 + Missense_Mutation SNP G G T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 4 55129926 55129926 G T SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.460 p.D154Y 0.997 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRA HGNC ENSG00000134853 tier1 - - 102 0 0.00 66 11 14.29 PDGFRB 0 genome.wustl.edu 37 5 149500553 149500553 + Silent SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 5 149500553 149500553 C T SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known silent c.2484 p.A828 0.884 pirsf_Tyr_kinase_CSF1/PDGF_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,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 tier1 rs143342011 - 62 0 0.00 36 12 25.00 PDZRN3 0 genome.wustl.edu 37 3 73433427 73433427 + Missense_Mutation SNP A A C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 3 73433427 73433427 A C SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.2290 p.C764G 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 41 0 0.00 30 12 28.57 PHEX 0 genome.wustl.edu 37 X 22132627 22132627 + Missense_Mutation SNP T T C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 X 22132627 22132627 T C SNP PHEX ENST00000379374 human ensembl 74_37 +1 known missense c.1225 p.F409L 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 tier1 - - 121 0 0.00 82 38 31.67 PHF14 0 genome.wustl.edu 37 7 11091335 11091335 + Missense_Mutation SNP G G C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 7 11091335 11091335 G C SNP PHF14 ENST00000403050 human ensembl 74_37 +1 known missense c.2409 p.Q803H 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 tier1 - - 39 0 0.00 33 6 15.38 PI16 0 genome.wustl.edu 37 6 36929709 36929709 + Missense_Mutation SNP C C G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 6 36929709 36929709 C G SNP PI16 ENST00000373674 human ensembl 74_37 +1 known missense c.551 p.S184C 0.984 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 tier1 - - 92 0 0.00 133 10 6.90 PKN3 0 genome.wustl.edu 37 9 131481964 131481964 + Splice_Site SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 9 131481964 131481964 G A SNP PKN3 ENST00000291906 human ensembl 74_37 +1 known splice_site c.2126-1 e19-1 1.000 - - - no_errors PKN3 HGNC ENSG00000160447 tier1 - - 297 0 0.00 312 19 5.72 PLCE1 0 genome.wustl.edu 37 10 96044673 96044673 + Silent SNP A A G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 10 96044673 96044673 A G SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.4986 p.A1662 0.997 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 69 0 0.00 57 4 6.56 PLXNA1 0 genome.wustl.edu 37 3 126708322 126708322 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 3 126708322 126708322 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.886 p.V296I 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 tier1 rs202007314 - 272 0 0.00 376 23 5.76 POU3F3 0 genome.wustl.edu 37 2 105472921 105472921 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 105472921 105472921 C T SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known missense c.953 p.T318M 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 tier1 - - 42 0 0.00 14 19 57.58 PRICKLE1 0 genome.wustl.edu 37 12 42866206 42866206 + Frame_Shift_Del DEL G G - TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 12 42866206 42866206 G - DEL PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known frame_shift_del c.113 p.P38fs 1.000 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 tier1 46 0 0.00 37 5 11.90 PRICKLE1 0 genome.wustl.edu 37 12 42866211 42866211 + Silent SNP G G T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 12 42866211 42866211 G T SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known silent c.108 p.V36 0.000 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 tier1 - - 44 0 0.00 38 5 11.63 PTCHD3 0 genome.wustl.edu 37 10 27702139 27702139 + Silent SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 10 27702139 27702139 G A SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known silent c.1041 p.L347 0.656 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 tier1 - - 274 0 0.00 233 40 14.60 PVRL2 0 genome.wustl.edu 37 19 45375197 45375197 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 19 45375197 45375197 G A SNP PVRL2 ENST00000252483 human ensembl 74_37 +1 known missense c.566 p.R189H 0.998 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL2 HGNC ENSG00000130202 tier1 - - 32 0 0.00 28 8 22.22 RAB39A 0 genome.wustl.edu 37 11 107832702 107832702 + Silent SNP A A T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 11 107832702 107832702 A T SNP RAB39A ENST00000320578 human ensembl 74_37 +1 known silent c.258 p.S86 0.976 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB39A HGNC ENSG00000179331 tier1 - - 88 0 0.00 72 5 6.49 RBM41 0 genome.wustl.edu 37 X 106358656 106358656 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 X 106358656 106358656 C T SNP RBM41 ENST00000372479 human ensembl 74_37 -1 known missense c.449 p.R150Q 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM41 HGNC ENSG00000089682 tier1 - - 162 0 0.00 108 9 7.69 RETSAT 0 genome.wustl.edu 37 2 85570430 85570430 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 85570430 85570430 G A SNP RETSAT ENST00000295802 human ensembl 74_37 -1 known missense c.1768 p.R590W 1.000 NULL pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC ENSG00000042445 tier1 rs71337784 - 93 0 0.00 113 29 20.42 RHOV 0 genome.wustl.edu 37 15 41165590 41165590 + Missense_Mutation SNP A A C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 15 41165590 41165590 A C SNP RHOV ENST00000220507 human ensembl 74_37 -1 known missense c.377 p.L126R 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOV HGNC ENSG00000104140 tier1 - - 106 0 0.00 130 38 22.62 RNF138 0 genome.wustl.edu 37 18 29693778 29693778 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 18 29693778 29693778 C T SNP RNF138 ENST00000261593 human ensembl 74_37 +1 known missense c.347 p.S116F 0.963 NULL pfam_Znf_MIZ,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF138 HGNC ENSG00000134758 tier1 - - 48 0 0.00 36 5 12.20 ROBO2 0 genome.wustl.edu 37 3 77666743 77666743 + Missense_Mutation SNP G G T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 3 77666743 77666743 G T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.3373 p.D1125Y 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 108 0 0.00 54 9 14.29 SCN9A 0 genome.wustl.edu 37 2 167089962 167089962 + Missense_Mutation SNP A A G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 167089962 167089962 A G SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.3815 p.V1272A 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 30 0 0.00 18 4 18.18 SDHA 0 genome.wustl.edu 37 5 230998 230998 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 5 230998 230998 G A SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.778 p.G260R 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 tier1 - - 55 0 0.00 68 11 13.92 SETD2 0 genome.wustl.edu 37 3 47127693 47127693 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 3 47127693 47127693 G A SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known nonsense c.5389 p.Q1797* 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 tier1 - - 52 0 0.00 20 8 27.59 SETMAR 0 genome.wustl.edu 37 3 4354862 4354862 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 3 4354862 4354862 C T SNP SETMAR ENST00000358065 human ensembl 74_37 +1 known missense c.437 p.T146M 0.991 smart_SET_dom,pfscan_SET_dom pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETMAR HGNC ENSG00000170364 tier1 - - 62 0 0.00 31 7 18.42 SH3GL1 0 genome.wustl.edu 37 19 4361687 4361687 + Silent SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 19 4361687 4361687 G A SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known silent c.1017 p.I339 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 tier1 - - 52 0 0.00 50 21 29.58 SI 0 genome.wustl.edu 37 3 164735642 164735642 + Silent SNP A A C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 3 164735642 164735642 A C SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.3540 p.T1180 0.792 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 45 0 0.00 45 5 10.00 SLC17A6 0 genome.wustl.edu 37 11 22363147 22363147 + Missense_Mutation SNP G G C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 11 22363147 22363147 G C SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.160 p.E54Q 0.997 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 46 0 0.00 40 6 13.04 SLC24A5 0 genome.wustl.edu 37 15 48428925 48428925 + Silent SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 15 48428925 48428925 G A SNP SLC24A5 ENST00000341459 human ensembl 74_37 +1 known silent c.636 p.L212 0.994 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 tier1 - - 60 0 0.00 50 12 19.35 SPCS3 0 genome.wustl.edu 37 4 177241264 177241264 + Missense_Mutation SNP G G T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 4 177241264 177241264 G T SNP SPCS3 ENST00000503362 human ensembl 74_37 +1 known missense c.37 p.A13S 1.000 pfam_SPC22,pirsf_SPC22 pfam_SPC22,pirsf_SPC22 - no_errors SPCS3 HGNC ENSG00000129128 tier1 - - 134 0 0.00 115 11 8.73 SPDYE2B 0 genome.wustl.edu 37 7 102296747 102296747 + Silent SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 7 102296747 102296747 G A SNP SPDYE2B ENST00000436228 human ensembl 74_37 +1 known silent c.663 p.S221 0.086 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE2B HGNC ENSG00000173678 tier1 - - 15 0 0.00 8 5 38.46 SPEN 0 genome.wustl.edu 37 1 16260226 16260226 + Silent SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 1 16260226 16260226 G A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.7491 p.K2497 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 tier1 - - 121 0 0.00 108 37 25.52 SPHK2 0 genome.wustl.edu 37 19 49132141 49132141 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 19 49132141 49132141 C T SNP SPHK2 ENST00000443164 human ensembl 74_37 +1 known missense c.1262 p.T421I 0.992 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 tier1 - - 67 0 0.00 70 8 10.26 SPOCK3 0 genome.wustl.edu 37 4 167921514 167921514 + Silent SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 4 167921514 167921514 C T SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known silent c.345 p.R115 1.000 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 tier1 - - 122 0 0.00 80 10 11.11 SPTB 0 genome.wustl.edu 37 14 65237841 65237841 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 14 65237841 65237841 G A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known nonsense c.5560 p.Q1854* 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,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 SPTB HGNC ENSG00000070182 tier1 - - 142 0 0.00 111 30 21.28 SPTBN2 0 genome.wustl.edu 37 11 66468323 66468323 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 11 66468323 66468323 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.3247 p.R1083C 1.000 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 SPTBN2 HGNC ENSG00000173898 tier1 - - 29 0 0.00 35 4 10.26 ST6GAL2 0 genome.wustl.edu 37 2 107423141 107423141 + Missense_Mutation SNP T T C TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 107423141 107423141 T C SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.1583 p.H528R 0.002 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 tier1 - - 108 0 0.00 61 45 42.45 STARD13 0 genome.wustl.edu 37 13 33701560 33701560 + Silent SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 13 33701560 33701560 G A SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known silent c.1872 p.L624 0.928 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 tier1 - - 26 0 0.00 11 9 45.00 STEAP3 0 genome.wustl.edu 37 2 120005308 120005308 + Silent SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 120005308 120005308 G A SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known silent c.576 p.A192 0.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 tier1 rs199756468 - 13 0 0.00 10 17 62.96 STXBP5 0 genome.wustl.edu 37 6 147648398 147648398 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 6 147648398 147648398 G A SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.2066 p.R689Q 1.000 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 tier1 - - 82 0 0.00 66 6 8.33 SZT2 0 genome.wustl.edu 37 1 43905665 43905666 + Frame_Shift_Del DEL AT AT - TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 1 43905665 43905666 AT - DEL SZT2 ENST00000562955 human ensembl 74_37 +1 known frame_shift_del c.6985_6986 p.I2329fs 0.074:0.985 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 tier1 76 0 0.00 58 10 14.71 TDRD10 0 genome.wustl.edu 37 1 154516466 154516466 + Silent SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 1 154516466 154516466 G A SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known silent c.531 p.R177 0.019 NULL pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 tier1 - - 137 0 0.00 125 27 17.76 TGM2 0 genome.wustl.edu 37 20 36767972 36767972 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 20 36767972 36767972 G A SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known missense c.1184 p.A395V 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 tier1 rs138957593 - 61 0 0.00 87 5 5.43 THBS3 0 genome.wustl.edu 37 1 155172139 155172139 + Silent SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 1 155172139 155172139 G A SNP THBS3 ENST00000368378 human ensembl 74_37 -1 known silent c.1011 p.P337 0.607 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_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 - - 92 0 0.00 94 10 9.62 TM9SF1 0 genome.wustl.edu 37 14 24680911 24680911 + Frame_Shift_Del DEL C C - TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 14 24680911 24680911 C 0 DEL TM9SF1 ENST00000556387 human ensembl 74_37 -1 known frame_shift_del c.156 p.K53fs 1.000 pfam_Snf7 pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC ENSG00000100926 180 0 0.00 182 11 5.70 TP53 0 genome.wustl.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 17 7578413 7578413 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.517 p.V173L 0.996 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 77 0 0.00 50 50 50.00 TRA2B 0 genome.wustl.edu 37 3 185655748 185655748 + RNA SNP C C G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 3 185655748 185655748 C G SNP TRA2B ENST00000465245 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRA2B HGNC ENSG00000136527 tier1 - - 11 0 0.00 5 7 58.33 TRAK1 0 genome.wustl.edu 37 3 42230516 42230516 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 3 42230516 42230516 G A SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known missense c.416 p.R139K 1.000 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 tier1 - - 54 0 0.00 33 20 37.74 TRIM48 0 genome.wustl.edu 37 11 55032400 55032400 + Silent SNP A A G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 11 55032400 55032400 A G SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known silent c.69 p.Q23 0.006 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 tier1 - - 256 0 0.00 182 19 9.45 TTN 0 genome.wustl.edu 37 2 179412719 179412719 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 179412719 179412719 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.85930 p.E28644K 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 45 0 0.00 32 15 31.25 TTN 0 genome.wustl.edu 37 2 179579963 179579963 + Missense_Mutation SNP A A T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 179579963 179579963 A T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.22218 p.H7406Q 0.024 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 119 0 0.00 40 33 45.21 UHRF1BP1L 0 genome.wustl.edu 37 12 100453651 100453651 + Nonsense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 12 100453651 100453651 G A SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known nonsense c.1720 p.R574* 1.000 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 tier1 - - 108 0 0.00 51 23 31.08 VARS 0 genome.wustl.edu 37 6 31753100 31753100 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 6 31753100 31753100 C T SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.1270 p.G424S 1.000 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 tier1 - - 40 0 0.00 27 13 32.50 VPS72 0 genome.wustl.edu 37 1 151156851 151156851 + Silent SNP G G T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 1 151156851 151156851 G T SNP VPS72 ENST00000368892 human ensembl 74_37 -1 known silent c.504 p.T168 1.000 pfam_YL1 pfam_YL1,pfam_YL1_C - no_errors VPS72 HGNC ENSG00000163159 tier1 - - 177 0 0.00 168 42 20.00 WDR36 0 genome.wustl.edu 37 5 110439921 110439921 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 5 110439921 110439921 G A SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.944 p.G315E 1.000 superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 tier1 - - 97 0 0.00 54 15 21.74 WDR52 0 genome.wustl.edu 37 3 113118804 113118804 + Silent SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 3 113118804 113118804 G A SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known silent c.1518 p.A506 0.017 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 tier1 - - 242 0 0.00 240 30 11.11 WDR54 0 genome.wustl.edu 37 2 74649360 74649360 + Missense_Mutation SNP C C T TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 74649360 74649360 C T SNP WDR54 ENST00000348227 human ensembl 74_37 +1 known missense c.80 p.P27L 0.997 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR54 HGNC ENSG00000005448 tier1 - - 82 0 0.00 122 9 6.87 WDR54 0 genome.wustl.edu 37 2 74649365 74649365 + Missense_Mutation SNP C C G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 2 74649365 74649365 C G SNP WDR54 ENST00000348227 human ensembl 74_37 +1 known missense c.85 p.R29G 0.002 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR54 HGNC ENSG00000005448 tier1 - - 85 0 0.00 117 9 7.14 ZC3H3 0 genome.wustl.edu 37 8 144620374 144620374 + Missense_Mutation SNP G G A TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 8 144620374 144620374 G A SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known missense c.1163 p.S388F 0.039 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 tier1 - - 84 0 0.00 96 63 39.62 ZNF578 0 genome.wustl.edu 37 19 53014407 53014408 + Frame_Shift_Del DEL AA AA - TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 19 53014407 53014408 AA - DEL ZNF578 ENST00000421239 human ensembl 74_37 +1 known frame_shift_del c.773_774 p.Q258fs 0.001:0.000 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 ZNF578 HGNC ENSG00000258405 tier1 119 0 0.00 77 14 15.38 ZNF607 0 genome.wustl.edu 37 19 38190156 38190156 + Missense_Mutation SNP C C G TCGA-R5-A7ZE-01B-11D-A34U-08 TCGA-R5-A7ZE-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 07b31218-43ee-4d1f-8351-e6668a805a29 e865ee63-b1e0-4e94-b8b5-64e95a8a5f27 19 38190156 38190156 C G SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.876 p.Q292H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF607 HGNC ENSG00000198182 tier1 - - 89 0 0.00 68 28 29.17