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 A1CF 0 genome.wustl.edu 37 10 52573626 52573626 + Silent SNP G G T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 10 52573626 52573626 G T SNP A1CF ENST00000282641 human ensembl 74_37 -1 known silent c.1338 p.L446 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 tier1 - - 88 0 0.00 95 19 16.67 ABCA12 0 genome.wustl.edu 37 2 215838673 215838673 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 2 215838673 215838673 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.5562 p.Q1854 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 78 0 0.00 109 23 17.42 ABTB2 0 genome.wustl.edu 37 11 34192492 34192492 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 34192492 34192492 C T SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known silent c.1524 p.E508 0.504 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,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 ABTB2 HGNC ENSG00000166016 tier1 - - 94 0 0.00 63 10 13.70 ACKR3 0 genome.wustl.edu 37 2 237489631 237489631 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 2 237489631 237489631 G A SNP ACKR3 ENST00000272928 human ensembl 74_37 +1 known missense c.523 p.V175M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR7,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR7,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Formyl_pep_rcpt - no_errors ACKR3 HGNC ENSG00000144476 tier1 rs147358005 - 91 0 0.00 63 48 43.24 ADAM20 0 genome.wustl.edu 37 14 70990572 70990572 + Silent SNP T T C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 14 70990572 70990572 T C SNP ADAM20 ENST00000256389 human ensembl 74_37 -1 known silent c.1053 p.K351 0.022 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 tier1 - - 82 0 0.00 58 26 30.95 ADAMTS5 0 genome.wustl.edu 37 21 28306854 28306854 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 21 28306854 28306854 C T SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known silent c.1620 p.T540 0.001 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 tier1 rs199797191 - 46 0 0.00 19 29 60.42 AGAP7 0 genome.wustl.edu 37 10 51464874 51464874 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 10 51464874 51464874 G A SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known missense c.1582 p.R528W 0.976 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 tier1 - - 174 0 0.00 167 39 18.93 ANKRD50 0 genome.wustl.edu 37 4 125593500 125593500 + Missense_Mutation SNP T T C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 4 125593500 125593500 T C SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.932 p.D311G 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 tier1 - - 70 0 0.00 29 32 52.46 APC 0 genome.wustl.edu 37 5 112164611 112164611 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 5 112164611 112164611 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.1685 p.T562M 0.998 superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 84 0 0.00 23 44 65.67 ARID4B 0 genome.wustl.edu 37 1 235420528 235420528 + Missense_Mutation SNP G G T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 235420528 235420528 G T SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.130 p.H44N 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 tier1 - - 54 0 0.00 31 27 46.55 BAGE2 0 genome.wustl.edu 37 21 11039306 11039306 + RNA SNP T T A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 21 11039306 11039306 T A SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.154 - - - no_errors BAGE2 HGNC ENSG00000187172 tier1 - - 344 0 0.00 359 19 5.03 BMP10 0 genome.wustl.edu 37 2 69092997 69092997 + Silent SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 2 69092997 69092997 G A SNP BMP10 ENST00000295379 human ensembl 74_37 -1 known silent c.1041 p.Y347 0.042 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP10 HGNC ENSG00000163217 tier1 - - 71 0 0.00 80 14 14.89 BRINP1 0 genome.wustl.edu 37 9 122011320 122011320 + Silent SNP G G T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 9 122011320 122011320 G T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known silent c.327 p.G109 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 45 0 0.00 61 12 16.44 BRINP1 0 genome.wustl.edu 37 9 122011321 122011321 + Missense_Mutation SNP C C A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 9 122011321 122011321 C A SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.326 p.G109V 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 44 0 0.00 60 12 16.67 BRINP2 0 genome.wustl.edu 37 1 177245564 177245564 + Nonsense_Mutation SNP G G T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 177245564 177245564 G T SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known nonsense c.1006 p.E336* 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 tier1 - - 23 0 0.00 46 7 13.21 C17orf97 0 genome.wustl.edu 37 17 263532 263532 + Missense_Mutation SNP A A G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 17 263532 263532 A G SNP C17orf97 ENST00000360127 human ensembl 74_37 +1 known missense c.898 p.K300E 0.000 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 tier1 rs111890321 - 31 0 0.00 22 5 18.52 C20orf195 0 genome.wustl.edu 37 20 62187339 62187339 + Missense_Mutation SNP T T C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 20 62187339 62187339 T C SNP C20orf195 ENST00000370097 human ensembl 74_37 +1 known missense c.323 p.F108S 1.000 NULL superfamily_Fibronectin_type3 - no_errors C20orf195 HGNC ENSG00000125531 tier1 - - 25 0 0.00 30 5 13.89 C2orf16 0 genome.wustl.edu 37 2 27800239 27800239 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 2 27800239 27800239 C T SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.800 p.P267L 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 tier1 - - 80 0 0.00 112 22 16.42 CABIN1 0 genome.wustl.edu 37 22 24562606 24562606 + Splice_Site SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 22 24562606 24562606 G A SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known splice_site c.5008-1 e31-1 1.000 - - - no_errors CABIN1 HGNC ENSG00000099991 tier1 - - 270 0 0.00 168 51 23.29 CCDC157 0 genome.wustl.edu 37 22 30772689 30772689 + Silent SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 22 30772689 30772689 G A SNP CCDC157 ENST00000338306 human ensembl 74_37 +1 known silent c.2214 p.R738 0.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC157 HGNC ENSG00000187860 tier1 - - 35 0 0.00 18 6 25.00 CCSER2 0 genome.wustl.edu 37 10 86131958 86131958 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 10 86131958 86131958 G A SNP CCSER2 ENST00000372088 human ensembl 74_37 +1 known missense c.1150 p.D384N 0.473 NULL NULL - no_errors CCSER2 HGNC ENSG00000107771 tier1 - - 59 0 0.00 24 16 40.00 CD44 0 genome.wustl.edu 37 11 35223258 35223258 + Missense_Mutation SNP G G C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 35223258 35223258 G C SNP CD44 ENST00000428726 human ensembl 74_37 +1 known missense c.1077 p.W359C 0.234 NULL pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link - no_errors CD44 HGNC ENSG00000026508 tier1 - - 71 0 0.00 65 11 14.47 CDH9 0 genome.wustl.edu 37 5 26988368 26988368 + Nonsense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 5 26988368 26988368 G A SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known nonsense c.73 p.Q25* 0.405 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 64 0 0.00 24 23 48.94 CDK11A 0 genome.wustl.edu 37 1 1635011 1635011 + Missense_Mutation SNP A A G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 1635011 1635011 A G SNP CDK11A ENST00000404249 human ensembl 74_37 -1 known missense c.1964 p.V655A 0.874 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK11A HGNC ENSG00000008128 10 0 0.00 10 9 47.37 CETP 0 genome.wustl.edu 37 16 57005921 57005921 + Frame_Shift_Del DEL G G - TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 16 57005921 57005921 G - DEL CETP ENST00000200676 human ensembl 74_37 +1 known frame_shift_del c.676 p.G226fs 0.780 superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_Cholesteryl_ester_transfer pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer - no_errors CETP HGNC ENSG00000087237 tier1 84 0 0.00 63 18 22.22 CNTLN 0 genome.wustl.edu 37 9 17394904 17394904 + Nonsense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 9 17394904 17394904 C T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known nonsense c.2452 p.R818* 0.011 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 - - 66 0 0.00 43 22 33.85 CNTN4 0 genome.wustl.edu 37 3 3030084 3030084 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 3 3030084 3030084 G A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.1414 p.A472T 0.868 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,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 CNTN4 HGNC ENSG00000144619 tier1 - - 139 0 0.00 104 60 36.59 CNTN5 0 genome.wustl.edu 37 11 100126543 100126543 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 100126543 100126543 C T SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.2057 p.T686M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_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 CNTN5 HGNC ENSG00000149972 tier1 rs201496247 - 57 0 0.00 97 36 27.07 COASY 0 genome.wustl.edu 37 17 40716178 40716178 + Silent SNP C C G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 17 40716178 40716178 C G SNP COASY ENST00000590958 human ensembl 74_37 +1 known silent c.987 p.R329 1.000 pfam_Cyt_trans-like pfam_Depp_CoAkinase,pfam_Cyt_trans-like,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 tier1 - - 21 0 0.00 9 9 50.00 COBL 0 genome.wustl.edu 37 7 51095669 51095669 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 7 51095669 51095669 G A SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.3370 p.R1124C 0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 tier1 - - 50 0 0.00 77 11 12.50 COL21A1 0 genome.wustl.edu 37 6 55925768 55925768 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 6 55925768 55925768 C T SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known missense c.2273 p.G758D 0.988 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 tier1 - - 36 0 0.00 26 23 46.94 COLEC12 0 genome.wustl.edu 37 18 334825 334825 + Missense_Mutation SNP C C G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 18 334825 334825 C G SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.1733 p.G578A 1.000 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 11 0 0.00 18 5 21.74 CROCCP2 0 genome.wustl.edu 37 1 16946434 16946434 + RNA SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 16946434 16946434 C T SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors CROCCP2 HGNC ENSG00000215908 tier1 rs367060 - 14 0 0.00 18 5 21.74 CUBN 0 genome.wustl.edu 37 10 16982237 16982237 + Splice_Site SNP C C A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 10 16982237 16982237 C A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known splice_site c.5343-1 e37-1 1.000 - - - no_errors CUBN HGNC ENSG00000107611 tier1 - - 111 0 0.00 140 20 12.50 DAPK1 0 genome.wustl.edu 37 9 90262250 90262250 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 9 90262250 90262250 C T SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.1261 p.R421W 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 - - 82 0 0.00 78 60 43.48 DBH 0 genome.wustl.edu 37 9 136518073 136518073 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 9 136518073 136518073 C T SNP DBH ENST00000393056 human ensembl 74_37 +1 known silent c.1386 p.L462 0.954 superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 tier1 - - 33 0 0.00 28 23 45.10 DCX 0 genome.wustl.edu 37 X 110555881 110555881 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 X 110555881 110555881 G A SNP DCX ENST00000338081 human ensembl 74_37 -1 known missense c.1258 p.R420W 1.000 pirsf_Doublecortin_chordata pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 tier1 - - 30 0 0.00 8 27 77.14 DEFB121 0 genome.wustl.edu 37 20 29992809 29992809 + Silent SNP A A G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 20 29992809 29992809 A G SNP DEFB121 ENST00000376314 human ensembl 74_37 -1 known silent c.138 p.T46 0.000 NULL NULL - no_errors DEFB121 HGNC ENSG00000204548 tier1 - - 85 0 0.00 131 26 16.46 DGKZ 0 genome.wustl.edu 37 11 46393109 46393109 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 46393109 46393109 G A SNP DGKZ ENST00000454345 human ensembl 74_37 +1 known missense c.1279 p.V427M 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC ENSG00000149091 tier1 - - 24 0 0.00 25 11 30.56 DISP1 0 genome.wustl.edu 37 1 223176177 223176177 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 223176177 223176177 G A SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel missense c.1438 p.G480S 1.000 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 tier1 - - 53 0 0.00 59 19 24.36 DLGAP3 0 genome.wustl.edu 37 1 35365314 35365314 + Frame_Shift_Del DEL G G - TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 35365314 35365314 G - DEL DLGAP3 ENST00000235180 human ensembl 74_37 -1 known frame_shift_del c.1342 p.R448fs 0.998 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 tier1 99 0 0.00 70 44 38.60 DPP6 0 genome.wustl.edu 37 7 154172046 154172046 + Silent SNP A A G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 7 154172046 154172046 A G SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known silent c.381 p.Q127 0.865 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 60 0 0.00 67 13 16.05 DRG1 0 genome.wustl.edu 37 22 31822649 31822649 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 22 31822649 31822649 C T SNP DRG1 ENST00000331457 human ensembl 74_37 +1 known silent c.762 p.S254 1.000 superfamily_P-loop_NTPase pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG1 HGNC ENSG00000185721 tier1 - - 94 0 0.00 68 15 18.07 DSEL 0 genome.wustl.edu 37 18 65180320 65180320 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 18 65180320 65180320 C T SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.1556 p.S519N 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 62 0 0.00 64 16 19.75 DYNC2H1 0 genome.wustl.edu 37 11 103027243 103027243 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 103027243 103027243 C T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known silent c.3871 p.L1291 0.996 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 73 0 0.00 267 19 6.64 DYNC2H1 0 genome.wustl.edu 37 11 103270530 103270530 + Missense_Mutation SNP A A T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 103270530 103270530 A T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.12317 p.K4106I 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 57 0 0.00 35 23 39.66 EGR4 0 genome.wustl.edu 37 2 73519752 73519752 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 2 73519752 73519752 C T SNP EGR4 ENST00000545030 human ensembl 74_37 -1 known silent c.603 p.P201 0.982 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 16 0 0.00 15 4 21.05 ENSG00000261711 0 genome.wustl.edu 37 16 34712319 34712319 + RNA SNP G G C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 16 34712319 34712319 G C SNP ENSG00000261711 ENST00000569028 human ensembl 74_37 -1 known rna NULL NULL 0.048 - - - no_errors RP11-80F22.9 Clone_based_vega_gene ENSG00000261711 tier1 - - 14 0 0.00 14 5 26.32 ENSG00000266775 0 genome.wustl.edu 37 17 28885439 28885439 + RNA SNP C C A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 17 28885439 28885439 C A SNP ENSG00000266775 ENST00000582125 human ensembl 74_37 -1 known rna NULL NULL 0.285 - - - no_errors RP11-218M11.6 Clone_based_vega_gene ENSG00000266775 tier1 rs72809859 - 9 0 0.00 6 7 53.85 ENSG00000271828 0 genome.wustl.edu 37 5 56224485 56224486 + RNA INS - - TGGC TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 5 56224485 56224486 - TGGC INS ENSG00000271828 ENST00000606813 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTD-2310F14.1 Clone_based_vega_gene ENSG00000271828 tier1 8 0 0.00 2 5 71.43 EPHA4 0 genome.wustl.edu 37 2 222321487 222321487 + Missense_Mutation SNP C C G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 2 222321487 222321487 C G SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.1449 p.Q483H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 tier1 - - 38 0 0.00 67 13 16.25 EPHX1 0 genome.wustl.edu 37 1 226019711 226019711 + RNA SNP C C A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 226019711 226019711 C A SNP EPHX1 ENST00000467015 human ensembl 74_37 +1 known rna NULL NULL 0.143 - - - no_errors EPHX1 HGNC ENSG00000143819 tier1 - - 27 0 0.00 18 8 30.77 ERBB4 0 genome.wustl.edu 37 2 212812259 212812259 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 2 212812259 212812259 C T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.317 p.R106H 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 21 0 0.00 38 6 13.64 EYS 0 genome.wustl.edu 37 6 66044880 66044880 + Missense_Mutation SNP T T C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 6 66044880 66044880 T C SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1759 p.R587G 0.009 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 69 0 0.00 64 49 43.36 FAM193A 0 genome.wustl.edu 37 4 2702237 2702237 + Missense_Mutation SNP G G T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 4 2702237 2702237 G T SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known missense c.3465 p.K1155N 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 tier1 - - 28 0 0.00 39 9 18.75 GALNT18 0 genome.wustl.edu 37 11 11398913 11398913 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 11398913 11398913 G A SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.793 p.L265F 0.998 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 tier1 - - 45 0 0.00 23 15 39.47 GAS2 0 genome.wustl.edu 37 11 22759300 22759300 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 22759300 22759300 C T SNP GAS2 ENST00000278187 human ensembl 74_37 +1 known silent c.459 p.G153 1.000 pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC ENSG00000148935 54 0 0.00 56 3 5.08 GATA3 0 genome.wustl.edu 37 10 8115988 8115988 + RNA SNP G G C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 10 8115988 8115988 G C SNP GATA3 ENST00000461472 human ensembl 74_37 +1 known rna NULL NULL 0.649 - - - no_errors GATA3 HGNC ENSG00000107485 tier1 - - 31 0 0.00 44 7 13.73 GLI3 0 genome.wustl.edu 37 7 42064901 42064901 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 7 42064901 42064901 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.1318 p.D440N 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 rs145479568 - 88 0 0.00 71 47 39.83 GP5 0 genome.wustl.edu 37 3 194118837 194118837 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 3 194118837 194118837 C T SNP GP5 ENST00000323007 human ensembl 74_37 -1 known missense c.175 p.G59R 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 tier1 - - 73 0 0.00 57 32 35.96 GUCA2B 0 genome.wustl.edu 37 1 42621233 42621233 + Missense_Mutation SNP T T G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 42621233 42621233 T G SNP GUCA2B ENST00000372581 human ensembl 74_37 +1 known missense c.305 p.L102R 0.999 pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin - no_errors GUCA2B HGNC ENSG00000044012 tier1 - - 81 0 0.00 54 22 28.95 GUCY1A3 0 genome.wustl.edu 37 4 156632319 156632319 + Silent SNP G G T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 4 156632319 156632319 G T SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known silent c.1002 p.T334 0.053 pfam_Haem_no_assoc-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 tier1 - - 79 0 0.00 65 22 25.00 HECW1 0 genome.wustl.edu 37 7 43548589 43548589 + Silent SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 7 43548589 43548589 G A SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known silent c.3888 p.S1296 0.585 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 tier1 - - 105 0 0.00 122 50 29.07 HOXA9 0 genome.wustl.edu 37 7 27203337 27203337 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 7 27203337 27203337 C T SNP HOXA9 ENST00000343483 human ensembl 74_37 -1 known missense c.704 p.R235H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA9 HGNC ENSG00000078399 tier1 - - 101 0 0.00 80 28 25.93 HRC 0 genome.wustl.edu 37 19 49657754 49657754 + Silent SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 19 49657754 49657754 G A SNP HRC ENST00000252825 human ensembl 74_37 -1 known silent c.741 p.D247 0.003 pfam_Hist_rich_Ca-bd pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 30 0 0.00 37 7 15.91 HTR2C 0 genome.wustl.edu 37 X 114082670 114082670 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 X 114082670 114082670 C T SNP HTR2C ENST00000276198 human ensembl 74_37 +1 known missense c.454 p.R152W 1.000 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_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 tier1 - - 66 0 0.00 94 39 29.32 HTRA4 0 genome.wustl.edu 37 8 38835554 38835554 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 8 38835554 38835554 C T SNP HTRA4 ENST00000302495 human ensembl 74_37 +1 known missense c.854 p.S285F 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,prints_Peptidase_S1C pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA4 HGNC ENSG00000169495 tier1 - - 77 0 0.00 26 30 53.57 IBTK 0 genome.wustl.edu 37 6 82904332 82904332 + Missense_Mutation SNP T T C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 6 82904332 82904332 T C SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.3202 p.T1068A 0.031 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,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,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 tier1 - - 56 0 0.00 92 15 14.02 IFNA7 0 genome.wustl.edu 37 9 21201787 21201787 + Missense_Mutation SNP C C A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 9 21201787 21201787 C A SNP IFNA7 ENST00000239347 human ensembl 74_37 -1 known missense c.378 p.E126D 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA7 HGNC ENSG00000214042 tier1 - - 277 0 0.00 174 63 26.58 IPO8 0 genome.wustl.edu 37 12 30819133 30819133 + Silent SNP A A G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 12 30819133 30819133 A G SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known silent c.1197 p.Y399 0.993 pfam_Cse1,superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 tier1 - - 53 0 0.00 80 5 5.88 IQGAP3 0 genome.wustl.edu 37 1 156518460 156518460 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 156518460 156518460 C T SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.1906 p.A636T 0.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 tier1 - - 73 0 0.00 41 37 47.44 ITPR3 0 genome.wustl.edu 37 6 33608268 33608268 + Missense_Mutation SNP G G C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 6 33608268 33608268 G C SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.97 p.D33H 1.000 pfam_Ins145_P3_rcpt pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 tier1 - - 214 0 0.00 245 41 14.29 KBTBD2 0 genome.wustl.edu 37 7 32909326 32909326 + Silent SNP A A G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 7 32909326 32909326 A G SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known silent c.1503 p.I501 0.877 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 tier1 - - 114 0 0.00 127 21 14.19 KCNT2 0 genome.wustl.edu 37 1 196451484 196451484 + Missense_Mutation SNP T T G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 196451484 196451484 T G SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.301 p.S101R 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 53 0 0.00 66 21 24.14 KIAA1551 0 genome.wustl.edu 37 12 32136202 32136202 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 12 32136202 32136202 C T SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known silent c.2313 p.V771 0.004 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 66 0 0.00 48 3 5.88 KIF20A 0 genome.wustl.edu 37 5 137518918 137518918 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 5 137518918 137518918 G A SNP KIF20A ENST00000394894 human ensembl 74_37 +1 known missense c.893 p.R298H 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 tier1 rs144155991 - 45 0 0.00 31 26 45.61 KLK15 0 genome.wustl.edu 37 19 51330957 51330957 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 19 51330957 51330957 G A SNP KLK15 ENST00000598239 human ensembl 74_37 -1 known missense c.158 p.S53F 0.201 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK15 HGNC ENSG00000174562 tier1 - - 27 0 0.00 13 5 27.78 KMT2A 0 genome.wustl.edu 37 11 118343382 118343382 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 118343382 118343382 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.1508 p.R503Q 0.994 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 112 0 0.00 169 15 8.15 KRT2 0 genome.wustl.edu 37 12 53043707 53043707 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 12 53043707 53043707 C T SNP KRT2 ENST00000309680 human ensembl 74_37 -1 known silent c.852 p.T284 0.004 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 tier1 - - 63 0 0.00 28 39 58.21 KRT6A 0 genome.wustl.edu 37 12 52886439 52886439 + Silent SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 12 52886439 52886439 G A SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known silent c.534 p.I178 0.994 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 tier1 - - 158 0 0.00 157 36 18.65 LITAF 0 genome.wustl.edu 37 16 11650389 11650389 + Silent SNP C C A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 16 11650389 11650389 C A SNP LITAF ENST00000381810 human ensembl 74_37 -1 known silent c.198 p.A66 0.976 NULL pfam_LITAF,smart_LITAF - no_errors LITAF HGNC ENSG00000189067 tier1 - - 25 0 0.00 17 4 19.05 LMBRD2 0 genome.wustl.edu 37 5 36104205 36104205 + Nonsense_Mutation SNP A A C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 5 36104205 36104205 A C SNP LMBRD2 ENST00000296603 human ensembl 74_37 -1 known nonsense c.2031 p.Y677* 1.000 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD2 HGNC ENSG00000164187 tier1 - - 38 0 0.00 29 12 29.27 LONP1 0 genome.wustl.edu 37 19 5693354 5693354 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 19 5693354 5693354 C T SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known silent c.2658 p.T886 0.176 pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 tier1 rs142397293 - 69 0 0.00 21 23 51.11 LPPR4 0 genome.wustl.edu 37 1 99771323 99771323 + Missense_Mutation SNP T T C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 99771323 99771323 T C SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.1049 p.L350P 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 tier1 - - 151 0 0.00 99 71 41.76 LRRN2 0 genome.wustl.edu 37 1 204587487 204587487 + Nonsense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 204587487 204587487 C T SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known nonsense c.1634 p.W545* 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 tier1 - - 74 0 0.00 43 17 28.33 MAP3K2 0 genome.wustl.edu 37 2 128084284 128084284 + Silent SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 2 128084284 128084284 G A SNP MAP3K2 ENST00000344908 human ensembl 74_37 -1 known silent c.576 p.F192 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K2 HGNC ENSG00000169967 tier1 - - 18 0 0.00 17 13 43.33 MARK3 0 genome.wustl.edu 37 14 103852399 103852399 + Missense_Mutation SNP T T G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 14 103852399 103852399 T G SNP MARK3 ENST00000429436 human ensembl 74_37 +1 known missense c.33 p.N11K 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 tier1 - - 126 0 0.00 102 30 22.73 MITD1 0 genome.wustl.edu 37 2 99786046 99786046 + Silent SNP A A T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 2 99786046 99786046 A T SNP MITD1 ENST00000289359 human ensembl 74_37 -1 known silent c.621 p.I207 0.996 NULL pfam_MIT,smart_MIT - no_errors MITD1 HGNC ENSG00000158411 tier1 - - 145 0 0.00 91 82 47.40 MRE11A 0 genome.wustl.edu 37 11 94226014 94226014 + RNA SNP A A T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 94226014 94226014 A T SNP MRE11A ENST00000536144 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors MRE11A HGNC ENSG00000020922 tier1 - - 53 0 0.00 104 14 11.86 MUC2 0 genome.wustl.edu 37 11 1103293 1103293 + Missense_Mutation SNP C C A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 1103293 1103293 C A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.8043 p.N2681K 0.026 NULL 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 - - 56 0 0.00 63 15 19.23 MYCBPAP 0 genome.wustl.edu 37 17 48594759 48594759 + Missense_Mutation SNP C C G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 17 48594759 48594759 C G SNP MYCBPAP ENST00000323776 human ensembl 74_37 +1 known missense c.439 p.L147V 0.883 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 tier1 - - 76 0 0.00 29 43 58.90 NBEA 0 genome.wustl.edu 37 13 35644892 35644892 + Missense_Mutation SNP G G T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 13 35644892 35644892 G T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.1474 p.A492S 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 65 0 0.00 131 13 9.03 NF1 0 genome.wustl.edu 37 17 29562682 29562682 + Nonsense_Mutation SNP C C A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 17 29562682 29562682 C A SNP NF1 ENST00000358273 human ensembl 74_37 +1 known nonsense c.3762 p.Y1254* 1.000 superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 - - 226 0 0.00 113 151 57.20 NKX2-3 0 genome.wustl.edu 37 10 101293033 101293033 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 10 101293033 101293033 G A SNP NKX2-3 ENST00000344586 human ensembl 74_37 +1 known missense c.145 p.A49T 0.995 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-3 HGNC ENSG00000119919 tier1 rs201429667 - 25 0 0.00 13 4 23.53 NOTCH3 0 genome.wustl.edu 37 19 15276326 15276326 + Missense_Mutation SNP T T C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 19 15276326 15276326 T C SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.5668 p.I1890V 1.000 pirsf_Notch,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 28 0 0.00 11 12 52.17 NPAS4 0 genome.wustl.edu 37 11 66190148 66190148 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 66190148 66190148 G A SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.434 p.R145H 1.000 superfamily_PAS pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 tier1 - - 36 0 0.00 45 7 13.21 NPIPB6 0 genome.wustl.edu 37 16 28354090 28354090 + Silent SNP C C G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 16 28354090 28354090 C G SNP NPIPB6 ENST00000532254 human ensembl 74_37 -1 novel silent c.1116 p.P372 0.010 NULL NULL - no_errors NPIPB6 HGNC ENSG00000198156 tier1 rs609553 - 8 0 0.00 5 4 44.44 NR1I2 0 genome.wustl.edu 37 3 119526187 119526187 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 3 119526187 119526187 C T SNP NR1I2 ENST00000337940 human ensembl 74_37 +1 known silent c.207 p.N69 0.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 tier1 rs201105889 - 60 0 0.00 58 14 19.44 NRXN1 0 genome.wustl.edu 37 2 50765736 50765736 + Missense_Mutation SNP C C A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 2 50765736 50765736 C A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.1774 p.A592S 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 56 0 0.00 66 11 14.29 OR2T1 0 genome.wustl.edu 37 1 248570379 248570379 + Missense_Mutation SNP C C G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 248570379 248570379 C G SNP OR2T1 ENST00000366474 human ensembl 74_37 +1 known missense c.1084 p.Q362E 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T1 HGNC ENSG00000175143 tier1 - - 101 0 0.00 75 52 40.94 OR8H1 0 genome.wustl.edu 37 11 56058441 56058441 + Missense_Mutation SNP A A C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 56058441 56058441 A C SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known missense c.98 p.L33R 0.057 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 tier1 - - 125 0 0.00 106 61 36.53 OS9 0 genome.wustl.edu 37 12 58114630 58114630 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 12 58114630 58114630 C T SNP OS9 ENST00000315970 human ensembl 74_37 +1 known missense c.1942 p.R648C 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 tier1 - - 27 0 0.00 25 5 16.67 PCDH11X 0 genome.wustl.edu 37 X 91642801 91642801 + Missense_Mutation SNP G G C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 X 91642801 91642801 G C SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.3212 p.G1071A 0.960 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 37 0 0.00 17 27 61.36 PCDH15 0 genome.wustl.edu 37 10 56106125 56106125 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 10 56106125 56106125 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.594 p.P198 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 123 0 0.00 132 26 16.46 PCDH18 0 genome.wustl.edu 37 4 138451252 138451252 + Missense_Mutation SNP G G C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 4 138451252 138451252 G C SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.1991 p.P664R 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 tier1 - - 145 0 0.00 66 81 55.10 PCDHA8 0 genome.wustl.edu 37 5 140222357 140222357 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 5 140222357 140222357 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1451 p.A484V 0.029 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 PCDHA8 HGNC ENSG00000204962 tier1 - - 85 0 0.00 41 57 58.16 PCDHA9 0 genome.wustl.edu 37 5 140229703 140229703 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 5 140229703 140229703 C T SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1623 p.G541 0.001 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 PCDHA9 HGNC ENSG00000204961 tier1 - - 168 0 0.00 86 71 44.94 PCDHB1 0 genome.wustl.edu 37 5 140431523 140431523 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 5 140431523 140431523 C T SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known silent c.468 p.S156 0.055 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 tier1 - - 53 0 0.00 42 13 23.64 PCDHGA5 0 genome.wustl.edu 37 5 140745786 140745786 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 5 140745786 140745786 G A SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.1889 p.R630Q 0.927 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 tier1 - - 85 0 0.00 53 20 27.40 PCDHGB1 0 genome.wustl.edu 37 5 140731755 140731755 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 5 140731755 140731755 G A SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.1928 p.R643H 0.945 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 tier1 - - 52 0 0.00 25 19 43.18 PLA1A 0 genome.wustl.edu 37 3 119334906 119334906 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 3 119334906 119334906 G A SNP PLA1A ENST00000273371 human ensembl 74_37 +1 known missense c.712 p.G238R 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors PLA1A HGNC ENSG00000144837 tier1 - - 34 0 0.00 22 5 18.52 POTEH-AS1 0 genome.wustl.edu 37 22 16278057 16278057 + RNA SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 22 16278057 16278057 G A SNP POTEH-AS1 ENST00000422014 human ensembl 74_37 +1 known rna NULL NULL 0.044 - - - no_errors POTEH-AS1 HGNC ENSG00000236666 tier1 rs146119771 - 8 0 0.00 5 7 58.33 PPEF1 0 genome.wustl.edu 37 X 18843909 18843909 + Missense_Mutation SNP C C A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 X 18843909 18843909 C A SNP PPEF1 ENST00000361511 human ensembl 74_37 +1 known missense c.1706 p.S569Y 0.999 pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_hand_dom pfam_PEstase_dom,pfam_EF_hand_dom,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_hand_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 tier1 - - 53 0 0.00 20 31 60.78 PRAMEF12 0 genome.wustl.edu 37 1 12835790 12835790 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 12835790 12835790 G A SNP PRAMEF12 ENST00000357726 human ensembl 74_37 +1 known missense c.392 p.R131Q 0.000 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 tier1 - - 118 0 0.00 72 60 45.45 PRKAA2 0 genome.wustl.edu 37 1 57169816 57169816 + Missense_Mutation SNP G G C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 57169816 57169816 G C SNP PRKAA2 ENST00000371244 human ensembl 74_37 +1 known missense c.961 p.A321P 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 tier1 - - 128 0 0.00 110 21 16.03 PRSS12 0 genome.wustl.edu 37 4 119252997 119252997 + Missense_Mutation SNP A A G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 4 119252997 119252997 A G SNP PRSS12 ENST00000296498 human ensembl 74_37 -1 known missense c.845 p.L282P 0.999 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 tier1 - - 53 0 0.00 35 11 23.91 PSTPIP1 0 genome.wustl.edu 37 15 77322867 77322867 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 15 77322867 77322867 C T SNP PSTPIP1 ENST00000559785 human ensembl 74_37 +1 known missense c.782 p.A261V 0.275 NULL pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP1 HGNC ENSG00000140368 tier1 - - 23 0 0.00 13 16 55.17 PTPRZ1 0 genome.wustl.edu 37 7 121653389 121653389 + Missense_Mutation SNP A A G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 7 121653389 121653389 A G SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.4289 p.D1430G 0.918 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 76 0 0.00 46 29 38.67 PYHIN1 0 genome.wustl.edu 37 1 158913683 158913683 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 158913683 158913683 G A SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known missense c.1106 p.G369E 0.697 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 tier1 - - 61 0 0.00 31 38 55.07 QDPR 0 genome.wustl.edu 37 4 17513649 17513649 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 4 17513649 17513649 G A SNP QDPR ENST00000281243 human ensembl 74_37 -1 known missense c.29 p.A10V 0.977 NULL pfam_DH_sc/Rdtase_SDR - no_errors QDPR HGNC ENSG00000151552 tier1 - - 29 0 0.00 30 7 18.42 QRFPR 0 genome.wustl.edu 37 4 122301741 122301741 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 4 122301741 122301741 G A SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known missense c.62 p.T21M 0.988 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 tier1 - - 14 0 0.00 7 10 58.82 RASEF 0 genome.wustl.edu 37 9 85630728 85630728 + Missense_Mutation SNP G G C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 9 85630728 85630728 G C SNP RASEF ENST00000376447 human ensembl 74_37 -1 known missense c.757 p.L253V 0.994 superfamily_Vinculin/catenin pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 tier1 - - 262 0 0.00 243 113 31.74 RGS11 0 genome.wustl.edu 37 16 321411 321411 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 16 321411 321411 C T SNP RGS11 ENST00000397770 human ensembl 74_37 -1 known missense c.736 p.V246I 0.426 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS11 HGNC ENSG00000076344 tier1 - - 47 0 0.00 31 5 13.89 RIMS2 0 genome.wustl.edu 37 8 104898169 104898169 + Missense_Mutation SNP T T G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 8 104898169 104898169 T G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1342 p.L448V 0.117 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 50 0 0.00 102 13 11.30 RNF123 0 genome.wustl.edu 37 3 49749955 49749955 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 3 49749955 49749955 G A SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.2540 p.R847Q 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 tier1 - - 41 0 0.00 35 9 20.45 RNF43 0 genome.wustl.edu 37 17 56435936 56435936 + Nonsense_Mutation SNP C C A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 17 56435936 56435936 C A SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known nonsense c.1201 p.E401* 0.002 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 tier1 - - 15 0 0.00 3 4 57.14 RNFT2 0 genome.wustl.edu 37 12 117187891 117187891 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 12 117187891 117187891 G A SNP RNFT2 ENST00000257575 human ensembl 74_37 +1 known missense c.329 p.R110H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNFT2 HGNC ENSG00000135119 tier1 - - 11 0 0.00 6 4 40.00 ROS1 0 genome.wustl.edu 37 6 117686796 117686796 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 6 117686796 117686796 G A SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.2921 p.A974V 0.004 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 tier1 - - 57 0 0.00 65 33 33.67 RRP12 0 genome.wustl.edu 37 10 99116931 99116931 + Nonsense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 10 99116931 99116931 G A SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known nonsense c.3814 p.Q1272* 1.000 NULL pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 tier1 - - 36 0 0.00 27 14 34.15 RSPO1 0 genome.wustl.edu 37 1 38082227 38082227 + Missense_Mutation SNP A A T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 38082227 38082227 A T SNP RSPO1 ENST00000356545 human ensembl 74_37 -1 known missense c.215 p.V72E 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO1 HGNC ENSG00000169218 tier1 - - 104 0 0.00 67 31 31.31 RTL1 0 genome.wustl.edu 37 14 101349302 101349302 + Silent SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 14 101349302 101349302 G A SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known silent c.1824 p.Y608 0.001 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 109 0 0.00 93 18 16.22 RYR1 0 genome.wustl.edu 37 19 38954485 38954485 + Silent SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 19 38954485 38954485 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.2781 p.T927 0.880 pfam_Ryanodine_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 85 0 0.00 32 74 69.81 SAGE1 0 genome.wustl.edu 37 X 134993829 134993829 + Missense_Mutation SNP G G T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 X 134993829 134993829 G T SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.2238 p.E746D 0.000 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 tier1 - - 116 0 0.00 52 105 66.88 SCN5A 0 genome.wustl.edu 37 3 38592428 38592428 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 3 38592428 38592428 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.5435 p.S1812L 0.417 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 - - 60 0 0.00 45 7 13.46 SEMA4F 0 genome.wustl.edu 37 2 74900805 74900805 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 2 74900805 74900805 C T SNP SEMA4F ENST00000357877 human ensembl 74_37 +1 known silent c.672 p.A224 0.997 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4F HGNC ENSG00000135622 tier1 - - 45 0 0.00 38 27 41.54 SH3PXD2B 0 genome.wustl.edu 37 5 171765751 171765751 + Silent SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 5 171765751 171765751 G A SNP SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known silent c.2358 p.H786 0.001 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 tier1 - - 32 0 0.00 29 7 19.44 SIPA1L2 0 genome.wustl.edu 37 1 232615430 232615430 + Silent SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 232615430 232615430 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known silent c.2028 p.Y676 0.923 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 tier1 - - 81 0 0.00 67 16 19.28 SLC47A1 0 genome.wustl.edu 37 17 19480750 19480750 + Missense_Mutation SNP G G T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 17 19480750 19480750 G T SNP SLC47A1 ENST00000395585 human ensembl 74_37 +1 known missense c.1597 p.D533Y 0.000 NULL pfam_MATE,tigrfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 tier1 - - 106 0 0.00 58 83 58.87 SLC4A2 0 genome.wustl.edu 37 7 150761397 150761397 + Missense_Mutation SNP G G T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 7 150761397 150761397 G T SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.160 p.A54S 0.546 prints_Anion_exchange_2 pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 tier1 - - 33 0 0.00 26 16 38.10 SLC5A4 0 genome.wustl.edu 37 22 32644772 32644772 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 22 32644772 32644772 C T SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known silent c.330 p.L110 0.002 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 tier1 - - 77 0 0.00 65 18 21.69 SMAD4 0 genome.wustl.edu 37 18 48591918 48591918 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 18 48591918 48591918 C T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1081 p.R361C 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 tier1 rs80338963 - 64 0 0.00 21 32 60.38 SP140 0 genome.wustl.edu 37 2 231103098 231103098 + Splice_Site SNP T T A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 2 231103098 231103098 T A SNP SP140 ENST00000392045 human ensembl 74_37 +1 known splice_site c.406+2 e3+2 0.999 - - - no_errors SP140 HGNC ENSG00000079263 tier1 - - 37 0 0.00 47 10 17.54 SSTR3 0 genome.wustl.edu 37 22 37603719 37603719 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 22 37603719 37603719 C T SNP SSTR3 ENST00000328544 human ensembl 74_37 -1 known missense c.124 p.V42I 0.699 prints_Somatstn_rcpt_3,prints_Somatstn_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 tier1 - - 67 0 0.00 32 15 31.91 STAC 0 genome.wustl.edu 37 3 36527669 36527669 + Silent SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 3 36527669 36527669 C T SNP STAC ENST00000273183 human ensembl 74_37 +1 known silent c.615 p.F205 0.998 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors STAC HGNC ENSG00000144681 tier1 rs150394259 - 153 0 0.00 124 25 16.78 SYNE1 0 genome.wustl.edu 37 6 152652265 152652265 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 6 152652265 152652265 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.13555 p.E4519K 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 108 0 0.00 134 37 21.64 TACR3 0 genome.wustl.edu 37 4 104640665 104640665 + Silent SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 4 104640665 104640665 G A SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known silent c.168 p.S56 0.000 prints_NK3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 tier1 - - 41 0 0.00 14 23 62.16 TAF1L 0 genome.wustl.edu 37 9 32632523 32632523 + Missense_Mutation SNP G G T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 9 32632523 32632523 G T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.3055 p.L1019M 0.999 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 204 0 0.00 246 54 17.94 TECTA 0 genome.wustl.edu 37 11 120989025 120989025 + Silent SNP T T A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 120989025 120989025 T A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.801 p.L267 0.998 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 38 0 0.00 57 15 20.83 THOC7 0 genome.wustl.edu 37 3 63819836 63819836 + Missense_Mutation SNP G G C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 3 63819836 63819836 G C SNP THOC7 ENST00000295899 human ensembl 74_37 -1 known missense c.587 p.A196G 0.972 NULL pfam_THOC7/Mft1 - no_errors THOC7 HGNC ENSG00000163634 tier1 - - 84 0 0.00 75 18 19.35 TLR5 0 genome.wustl.edu 37 1 223285928 223285928 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 223285928 223285928 C T SNP TLR5 ENST00000342210 human ensembl 74_37 -1 known missense c.446 p.R149H 0.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 tier1 - - 55 0 0.00 47 26 35.62 TMEFF2 0 genome.wustl.edu 37 2 193059150 193059150 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 2 193059150 193059150 C T SNP TMEFF2 ENST00000272771 human ensembl 74_37 -1 known missense c.101 p.R34H 1.000 NULL pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 tier1 - - 64 0 0.00 82 19 18.81 TMEM116 0 genome.wustl.edu 37 12 112369579 112369579 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 12 112369579 112369579 G A SNP TMEM116 ENST00000552374 human ensembl 74_37 -1 known missense c.860 p.T287M 1.000 prints_GCR1-cAMP_receptor prints_GCR1-cAMP_receptor - no_errors TMEM116 HGNC ENSG00000198270 tier1 - - 60 0 0.00 64 20 23.81 TMEM175 0 genome.wustl.edu 37 4 951693 951693 + Silent SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 4 951693 951693 G A SNP TMEM175 ENST00000264771 human ensembl 74_37 +1 known silent c.924 p.P308 0.078 pfam_DUF1211_TMEM175 pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 tier1 rs201039051 - 73 0 0.00 23 54 70.13 TMPRSS15 0 genome.wustl.edu 37 21 19642341 19642341 + Missense_Mutation SNP C C G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 21 19642341 19642341 C G SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.3005 p.G1002A 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 58 0 0.00 44 14 24.14 TNNT3 0 genome.wustl.edu 37 11 1955618 1955620 + In_Frame_Del DEL GAA GAA - TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 1955618 1955620 GAA - DEL TNNT3 ENST00000397301 human ensembl 74_37 +1 known in_frame_del c.456_458 p.K156in_frame_del 1.000:1.000:1.000 pfam_Troponin pfam_Troponin - no_errors TNNT3 HGNC ENSG00000130595 tier1 28 0 0.00 23 13 36.11 TP53 0 genome.wustl.edu 37 17 7574003 7574003 + Frame_Shift_Del DEL G G - TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 17 7574003 7574003 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.1024 p.R342fs 0.307 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 23 0 0.00 15 20 57.14 TP53BP1 0 genome.wustl.edu 37 15 43712793 43712793 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 15 43712793 43712793 C T SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.4391 p.R1464H 0.998 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 tier1 - - 50 0 0.00 37 21 36.21 TRPC6 0 genome.wustl.edu 37 11 101343029 101343029 + Missense_Mutation SNP T T C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 11 101343029 101343029 T C SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.2044 p.I682V 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 tier1 - - 106 0 0.00 304 26 7.88 TRPV6 0 genome.wustl.edu 37 7 142569467 142569467 + Missense_Mutation SNP T T C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 7 142569467 142569467 T C SNP TRPV6 ENST00000359396 human ensembl 74_37 -1 known missense c.2171 p.Q724R 1.000 prints_TRPV6_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 tier1 - - 65 0 0.00 67 13 16.25 TYW1 0 genome.wustl.edu 37 7 66532390 66532390 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 7 66532390 66532390 G A SNP TYW1 ENST00000359626 human ensembl 74_37 +1 known missense c.1274 p.R425Q 1.000 pfam_rSAM pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 tier1 - - 90 0 0.00 112 18 13.85 ULK4 0 genome.wustl.edu 37 3 41759312 41759312 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 3 41759312 41759312 G A SNP ULK4 ENST00000301831 human ensembl 74_37 -1 known missense c.2363 p.P788L 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 tier1 - - 71 0 0.00 54 13 19.40 USP5 0 genome.wustl.edu 37 12 6972339 6972339 + RNA DEL T T - TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 12 6972339 6972339 T - DEL USP5 ENST00000541969 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors USP5 HGNC ENSG00000111667 tier1 36 0 0.00 24 2 7.69 USP9X 0 genome.wustl.edu 37 X 41025371 41025371 + Missense_Mutation SNP C C G TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 X 41025371 41025371 C G SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.2232 p.F744L 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 tier1 - - 45 0 0.00 39 22 36.07 VIPAS39 0 genome.wustl.edu 37 14 77917619 77917619 + Missense_Mutation SNP C C T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 14 77917619 77917619 C T SNP VIPAS39 ENST00000343765 human ensembl 74_37 -1 known missense c.254 p.R85H 0.998 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC ENSG00000151445 tier1 - - 201 0 0.00 179 55 23.50 WDR78 0 genome.wustl.edu 37 1 67299306 67299306 + Nonsense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 1 67299306 67299306 G A SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known nonsense c.1975 p.R659* 0.984 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 tier1 - - 37 0 0.00 37 12 24.49 XPC 0 genome.wustl.edu 37 3 14209775 14209775 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 3 14209775 14209775 G A SNP XPC ENST00000285021 human ensembl 74_37 -1 known missense c.518 p.A173V 0.493 NULL pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 tier1 - - 23 0 0.00 8 8 50.00 ZBTB20 0 genome.wustl.edu 37 3 114069779 114069779 + Silent SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 3 114069779 114069779 G A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known silent c.1146 p.S382 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 tier1 - - 65 0 0.00 42 12 22.22 ZBTB7A 0 genome.wustl.edu 37 19 4047794 4047794 + Missense_Mutation SNP G G A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 19 4047794 4047794 G A SNP ZBTB7A ENST00000322357 human ensembl 74_37 -1 known missense c.1711 p.P571S 0.016 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7A HGNC ENSG00000178951 tier1 - - 45 0 0.00 29 7 19.44 ZNF521 0 genome.wustl.edu 37 18 22806415 22806415 + Silent SNP G G C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 18 22806415 22806415 G C SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known silent c.1467 p.L489 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 73 0 0.00 87 16 15.53 ZNF782 0 genome.wustl.edu 37 9 99580911 99580911 + Missense_Mutation SNP A A C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 9 99580911 99580911 A C SNP ZNF782 ENST00000481138 human ensembl 74_37 -1 known missense c.1394 p.L465R 0.994 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF782 HGNC ENSG00000196597 tier1 - - 181 0 0.00 140 76 35.19 ZNF804A 0 genome.wustl.edu 37 2 185803333 185803333 + Silent SNP T T C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 2 185803333 185803333 T C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known silent c.3210 p.P1070 0.328 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 76 0 0.00 71 16 18.39 ZNF812 0 genome.wustl.edu 37 19 9801677 9801677 + Missense_Mutation SNP T T C TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 19 9801677 9801677 T C SNP ZNF812 ENST00000457674 human ensembl 74_37 -1 novel missense c.502 p.K168E 0.075 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 ZNF812 HGNC ENSG00000224689 tier1 - - 36 0 0.00 23 20 46.51 ZNF90 0 genome.wustl.edu 37 19 20188895 20188895 + RNA SNP G G T TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 19 20188895 20188895 G T SNP ZNF90 ENST00000474284 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors ZNF90 HGNC ENSG00000213988 tier1 - - 44 0 0.00 14 15 51.72 ZP2 0 genome.wustl.edu 37 16 21222707 21222707 + Missense_Mutation SNP C C A TCGA-VQ-A91U-01A-11D-A410-08 TCGA-VQ-A91U-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eddba288-a4ef-4614-855d-5ae5ce4674af 629532af-e38c-4eb8-b77e-1460a47b6c98 16 21222707 21222707 C A SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known missense c.72 p.R24S 0.005 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 tier1 - - 91 0 0.00 69 55 44.35