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 ADAMTS20 0 genome.wustl.edu 37 12 43777720 43777720 + Missense_Mutation SNP C C A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 12 43777720 43777720 C A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.4513 p.V1505F 0.002 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 71 0 0.00 61 8 11.59 AKAP6 0 genome.wustl.edu 37 14 33291822 33291822 + Silent SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 14 33291822 33291822 T G SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known silent c.4803 p.T1601 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 149 0 0.00 95 6 5.94 AMH 0 genome.wustl.edu 37 19 2249462 2249462 + Missense_Mutation SNP A A G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 19 2249462 2249462 A G SNP AMH ENST00000221496 human ensembl 74_37 +1 known missense c.131 p.D44G 0.962 pirsf_Muellerian-inhibiting_factor pfam_AMH_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_Muellerian-inhibiting_factor - no_errors AMH HGNC ENSG00000104899 tier1 - - 25 0 0.00 18 4 18.18 ANKLE1 0 genome.wustl.edu 37 19 17394354 17394354 + Missense_Mutation SNP G G C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 19 17394354 17394354 G C SNP ANKLE1 ENST00000394458 human ensembl 74_37 +1 known missense c.781 p.V261L 0.000 superfamily_Lactate_DH/Glyco_Ohase_4_C pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom - no_errors ANKLE1 HGNC ENSG00000160117 tier1 - - 82 0 0.00 76 13 14.61 ANKRD20A8P 0 genome.wustl.edu 37 2 95519384 95519384 + RNA SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 95519384 95519384 A C SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.938 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 tier1 - - 225 0 0.00 160 26 13.98 ARHGAP20 0 genome.wustl.edu 37 11 110451557 110451557 + Missense_Mutation SNP C C G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 11 110451557 110451557 C G SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.2113 p.E705Q 0.993 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 tier1 - - 116 0 0.00 82 10 10.87 ARHGAP29 0 genome.wustl.edu 37 1 94643144 94643144 + RNA DEL T T - TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 1 94643144 94643144 T - DEL ARHGAP29 ENST00000482481 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGAP29 HGNC ENSG00000137962 tier1 27 0 0.00 23 4 14.81 ARHGEF26 0 genome.wustl.edu 37 3 153840234 153840234 + Silent SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 153840234 153840234 C T SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known silent c.453 p.N151 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 tier1 - - 38 0 0.00 35 4 10.26 ATXN1 0 genome.wustl.edu 37 6 16327921 16327921 + Missense_Mutation SNP C C A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 6 16327921 16327921 C A SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.621 p.Q207H 0.022 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 tier1 rs201030692 - 28 0 0.00 27 3 10.00 BICC1 0 genome.wustl.edu 37 10 60558259 60558259 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 10 60558259 60558259 T G SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.1467 p.S489R 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 191 0 0.00 118 8 6.35 C7 0 genome.wustl.edu 37 5 40972522 40972522 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 40972522 40972522 C T SNP C7 ENST00000313164 human ensembl 74_37 +1 known missense c.1900 p.P634S 0.963 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 tier1 - - 34 0 0.00 38 8 17.39 CAPG 0 genome.wustl.edu 37 2 85622746 85622746 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 85622746 85622746 C T SNP CAPG ENST00000263867 human ensembl 74_37 -1 known missense c.896 p.R299Q 0.098 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors CAPG HGNC ENSG00000042493 tier1 - - 33 0 0.00 38 8 17.39 CCSER1 0 genome.wustl.edu 37 4 91230155 91230155 + Missense_Mutation SNP C C G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 4 91230155 91230155 C G SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known missense c.720 p.S240R 1.000 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 tier1 - - 59 0 0.00 59 7 10.61 CDC16 0 genome.wustl.edu 37 13 115010426 115010426 + Missense_Mutation SNP G G C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 13 115010426 115010426 G C SNP CDC16 ENST00000356221 human ensembl 74_37 +1 known missense c.829 p.E277Q 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC16 HGNC ENSG00000130177 tier1 - - 78 0 0.00 80 7 8.05 CERCAM 0 genome.wustl.edu 37 9 131186478 131186478 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 9 131186478 131186478 G A SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known missense c.488 p.G163E 0.065 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 tier1 - - 247 0 0.00 260 21 7.47 CGNL1 0 genome.wustl.edu 37 15 57815837 57815837 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 15 57815837 57815837 G A SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known missense c.2866 p.E956K 1.000 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 tier1 - - 69 0 0.00 47 8 14.55 CMYA5 0 genome.wustl.edu 37 5 79030540 79030540 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 79030540 79030540 A C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.5952 p.E1984D 0.166 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 73 0 0.00 70 7 9.09 CNOT1 0 genome.wustl.edu 37 16 58616794 58616794 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 16 58616794 58616794 G A SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.947 p.P316L 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 88 0 0.00 68 10 12.82 COL27A1 0 genome.wustl.edu 37 9 117051006 117051006 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 9 117051006 117051006 C T SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.4069 p.R1357C 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 tier1 - - 70 0 0.00 60 9 13.04 COL5A3 0 genome.wustl.edu 37 19 10108801 10108801 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 19 10108801 10108801 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.1135 p.G379R 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 272 0 0.00 242 24 9.02 CSGALNACT1 0 genome.wustl.edu 37 8 19362959 19362959 + Missense_Mutation SNP G G T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 19362959 19362959 G T SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.387 p.D129E 0.972 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 tier1 - - 134 0 0.00 110 12 9.84 CSNK1A1L 0 genome.wustl.edu 37 13 37679178 37679178 + Silent SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 13 37679178 37679178 G A SNP CSNK1A1L ENST00000379800 human ensembl 74_37 -1 known silent c.216 p.G72 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1A1L HGNC ENSG00000180138 tier1 - - 105 0 0.00 112 6 5.08 CTNNB1 0 genome.wustl.edu 37 3 41277900 41277900 + Missense_Mutation SNP G G C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 41277900 41277900 G C SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.1864 p.A622P 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 tier1 - - 124 0 0.00 99 10 9.17 CYP46A1 0 genome.wustl.edu 37 14 100184456 100184456 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 14 100184456 100184456 G A SNP CYP46A1 ENST00000261835 human ensembl 74_37 +1 known missense c.973 p.V325M 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP46A1 HGNC ENSG00000036530 tier1 - - 87 0 0.00 58 7 10.77 CYP7B1 0 genome.wustl.edu 37 8 65527645 65527645 + Missense_Mutation SNP T T C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 65527645 65527645 T C SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.995 p.K332R 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 tier1 - - 104 0 0.00 96 8 7.69 DENND2C 0 genome.wustl.edu 37 1 115138466 115138466 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 1 115138466 115138466 T G SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known missense c.2312 p.K771T 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 tier1 - - 163 0 0.00 130 25 16.13 DPY19L2 0 genome.wustl.edu 37 12 64041119 64041119 + Silent SNP T T A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 12 64041119 64041119 T A SNP DPY19L2 ENST00000324472 human ensembl 74_37 -1 known silent c.615 p.T205 0.848 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 tier1 - - 146 0 0.00 126 7 5.26 ELAVL2 0 genome.wustl.edu 37 9 23731060 23731060 + Missense_Mutation SNP T T A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 9 23731060 23731060 T A SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known missense c.293 p.N98I 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 tier1 - - 70 0 0.00 52 7 11.67 ENOSF1 0 genome.wustl.edu 37 18 683258 683258 + Silent SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 18 683258 683258 G A SNP ENOSF1 ENST00000340116 human ensembl 74_37 -1 known silent c.927 p.A309 0.000 pfam_Mandelate_racemase_C,smart_Mandelate_racemase_C pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C - no_errors ENOSF1 HGNC ENSG00000132199 tier1 - - 152 0 0.00 122 10 7.58 EPCAM 0 genome.wustl.edu 37 2 47612312 47612312 + Missense_Mutation SNP C C A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 47612312 47612312 C A SNP EPCAM ENST00000456133 human ensembl 74_37 +1 known missense c.950 p.S317Y 0.996 NULL pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors EPCAM HGNC ENSG00000119888 tier1 - - 188 0 0.00 263 16 5.73 ETV6 0 genome.wustl.edu 37 12 12043919 12043919 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 12 12043919 12043919 G A SNP ETV6 ENST00000396373 human ensembl 74_37 +1 known missense c.1298 p.R433H 1.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV6 HGNC ENSG00000139083 tier1 - - 267 0 0.00 199 20 9.13 FBRS 0 genome.wustl.edu 37 16 30680784 30680784 + Missense_Mutation SNP G G C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 16 30680784 30680784 G C SNP FBRS ENST00000356166 human ensembl 74_37 +1 known missense c.2761 p.A921P 0.998 NULL prints_AUTS2 - no_errors FBRS HGNC ENSG00000156860 tier1 - - 382 0 0.00 294 19 6.05 FSIP2 0 genome.wustl.edu 37 2 186669977 186669977 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 186669977 186669977 T G SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.16211 p.L5404R 1.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 109 0 0.00 90 19 17.43 GDF6 0 genome.wustl.edu 37 8 97172636 97172636 + Missense_Mutation SNP G G T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 97172636 97172636 G T SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.285 p.H95Q 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 tier1 - - 179 0 0.00 187 15 7.43 GPR155 0 genome.wustl.edu 37 2 175301066 175301066 + Silent SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 175301066 175301066 G A SNP GPR155 ENST00000295500 human ensembl 74_37 -1 known silent c.2391 p.S797 0.863 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 tier1 rs199551361 - 159 0 0.00 156 17 9.83 GRIP1 0 genome.wustl.edu 37 12 66909436 66909436 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 12 66909436 66909436 T G SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.687 p.E229D 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 tier1 - - 198 0 0.00 167 15 8.20 GRPR 0 genome.wustl.edu 37 X 16168546 16168546 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d X 16168546 16168546 T G SNP GRPR ENST00000380289 human ensembl 74_37 +1 known missense c.532 p.F178V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 tier1 - - 75 0 0.00 51 39 43.33 GUCY2F 0 genome.wustl.edu 37 X 108619317 108619317 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d X 108619317 108619317 T G SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known missense c.3230 p.D1077A 0.911 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 tier1 - - 193 0 0.00 192 16 7.69 HTR3A 0 genome.wustl.edu 37 11 113857585 113857585 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 11 113857585 113857585 A C SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known missense c.1069 p.S357R 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 tier1 - - 80 0 0.00 80 7 8.05 IL13RA2 0 genome.wustl.edu 37 X 114249030 114249030 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d X 114249030 114249030 T G SNP IL13RA2 ENST00000243213 human ensembl 74_37 -1 known missense c.354 p.E118D 0.996 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 tier1 - - 98 0 0.00 87 33 27.50 ITIH2 0 genome.wustl.edu 37 10 7750999 7750999 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 10 7750999 7750999 A C SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known missense c.207 p.Q69H 0.999 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 tier1 - - 165 0 0.00 135 11 7.53 KIF2B 0 genome.wustl.edu 37 17 51901053 51901053 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 17 51901053 51901053 A C SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.659 p.K220T 0.998 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 KIF2B HGNC ENSG00000141200 tier1 - - 51 0 0.00 47 5 9.62 KIF2B 0 genome.wustl.edu 37 17 51901612 51901612 + Missense_Mutation SNP A A G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 17 51901612 51901612 A G SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1218 p.I406M 0.002 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 KIF2B HGNC ENSG00000141200 tier1 - - 48 0 0.00 74 5 6.33 KIRREL2 0 genome.wustl.edu 37 19 36357076 36357076 + Silent SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 19 36357076 36357076 C T SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known silent c.1809 p.Y603 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 tier1 - - 194 0 0.00 131 12 8.39 KRT72 0 genome.wustl.edu 37 12 52981568 52981568 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 12 52981568 52981568 C T SNP KRT72 ENST00000293745 human ensembl 74_37 -1 known missense c.1157 p.R386Q 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 tier1 - - 105 0 0.00 86 9 9.47 KRTAP11-1 0 genome.wustl.edu 37 21 32253376 32253376 + Silent SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 21 32253376 32253376 C T SNP KRTAP11-1 ENST00000332378 human ensembl 74_37 -1 known silent c.468 p.V156 0.580 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP11-1 HGNC ENSG00000182591 tier1 - - 157 0 0.00 101 6 5.61 LINC00969 0 genome.wustl.edu 37 3 195410751 195410751 + RNA SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 195410751 195410751 C T SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00969 HGNC ENSG00000242086 tier1 rs9871557 - 8 0 0.00 10 9 47.37 LRP12 0 genome.wustl.edu 37 8 105521191 105521191 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 105521191 105521191 T G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.191 p.N64T 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 99 0 0.00 105 8 7.08 LRP1B 0 genome.wustl.edu 37 2 141079561 141079561 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 141079561 141079561 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.12611 p.N4204T 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 80 0 0.00 63 8 11.27 LZTS3 0 genome.wustl.edu 37 20 3146283 3146283 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 20 3146283 3146283 G A SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.1183 p.R395W 1.000 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 tier1 - - 29 0 0.00 19 5 20.83 MASTL 0 genome.wustl.edu 37 10 27475541 27475541 + RNA SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 10 27475541 27475541 T G SNP MASTL ENST00000477034 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MASTL HGNC ENSG00000120539 tier1 - - 42 0 0.00 37 10 21.28 MC4R 0 genome.wustl.edu 37 18 58038662 58038662 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 18 58038662 58038662 T G SNP MC4R ENST00000299766 human ensembl 74_37 -1 known missense c.921 p.Q307H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 tier1 - - 100 0 0.00 84 9 9.68 MROH2B 0 genome.wustl.edu 37 5 41058242 41058242 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 41058242 41058242 G A SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.679 p.R227C 0.171 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 52 0 0.00 31 12 27.91 MYLK 0 genome.wustl.edu 37 3 123419410 123419410 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 123419410 123419410 C T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.2905 p.E969K 1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 tier1 - - 93 0 0.00 81 8 8.99 MYT1L 0 genome.wustl.edu 37 2 1926123 1926123 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 1926123 1926123 A C SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.1418 p.L473R 0.465 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 127 0 0.00 89 14 13.46 MYT1L 0 genome.wustl.edu 37 2 1926933 1926933 + Missense_Mutation SNP T T A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 1926933 1926933 T A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.608 p.K203M 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 48 0 0.00 33 6 15.38 NALCN 0 genome.wustl.edu 37 13 101833582 101833582 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 13 101833582 101833582 A C SNP NALCN ENST00000376196 human ensembl 74_37 -1 known missense c.1871 p.L624R 0.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 102 0 0.00 78 37 29.13 NCOA2 0 genome.wustl.edu 37 8 71068903 71068903 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 71068903 71068903 G A SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.1697 p.P566L 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 tier1 - - 113 0 0.00 121 12 8.96 OLFM3 0 genome.wustl.edu 37 1 102302456 102302456 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 1 102302456 102302456 T G SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known missense c.255 p.Q85H 1.000 pfam_Noelin-1,superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 tier1 - - 146 0 0.00 100 11 9.91 OR5L1 0 genome.wustl.edu 37 11 55578986 55578986 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 11 55578986 55578986 T G SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known missense c.44 p.L15R 0.072 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 238 0 0.00 234 15 6.02 PCDH15 0 genome.wustl.edu 37 10 55582512 55582512 + Silent SNP T T A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 10 55582512 55582512 T A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.4974 p.S1658 0.524 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 103 0 0.00 92 5 5.15 PCDHA3 0 genome.wustl.edu 37 5 140180976 140180976 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 140180976 140180976 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.194 p.R65Q 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 274 0 0.00 187 19 9.22 PDCL 0 genome.wustl.edu 37 9 125582522 125582522 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 9 125582522 125582522 G A SNP PDCL ENST00000259467 human ensembl 74_37 -1 known missense c.748 p.R250C 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDCL HGNC ENSG00000136940 tier1 - - 92 0 0.00 62 5 7.46 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 rs104886003 - 53 0 0.00 40 6 13.04 PRICKLE2-AS1 0 genome.wustl.edu 37 3 64085631 64085631 + RNA SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 64085631 64085631 T G SNP PRICKLE2-AS1 ENST00000482609 human ensembl 74_37 +1 known rna NULL NULL 0.059 - - - no_errors RP11-129B22.1 Clone_based_vega_gene ENSG00000241111 tier1 - - 91 0 0.00 89 6 6.32 PTCH1 0 genome.wustl.edu 37 9 98209514 98209514 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 9 98209514 98209514 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.4024 p.R1342C 0.998 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 tier1 - - 154 0 0.00 145 14 8.81 PTDSS1 0 genome.wustl.edu 37 8 97274408 97274408 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 97274408 97274408 G A SNP PTDSS1 ENST00000517309 human ensembl 74_37 +1 known missense c.140 p.S47N 1.000 NULL pfam_PSS - no_errors PTDSS1 HGNC ENSG00000156471 tier1 - - 118 0 0.00 104 8 7.14 RAX 0 genome.wustl.edu 37 18 56939727 56939727 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 18 56939727 56939727 G A SNP RAX ENST00000334889 human ensembl 74_37 -1 known missense c.409 p.R137W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors RAX HGNC ENSG00000134438 tier1 - - 188 0 0.00 159 18 10.17 RICTOR 0 genome.wustl.edu 37 5 39021169 39021169 + Missense_Mutation SNP T T C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 39021169 39021169 T C SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.167 p.K56R 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 tier1 - - 130 0 0.00 91 7 7.14 RIMS2 0 genome.wustl.edu 37 8 104780637 104780637 + RNA SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 104780637 104780637 A C SNP RIMS2 ENST00000395361 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 22 0 0.00 18 5 21.74 ROBO2 0 genome.wustl.edu 37 3 77147475 77147475 + Silent SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 77147475 77147475 G A SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known silent c.372 p.A124 0.471 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 59 0 0.00 78 9 10.34 RP1 0 genome.wustl.edu 37 8 55540239 55540239 + Missense_Mutation SNP A A G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 55540239 55540239 A G SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.3797 p.K1266R 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 182 0 0.00 186 12 6.06 RPLP0P2 0 genome.wustl.edu 37 11 61405179 61405179 + RNA DEL A A - TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 11 61405179 61405179 A - DEL RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 0.975 - - - no_errors RPLP0P2 HGNC ENSG00000243742 tier1 30 0 0.00 19 3 13.64 RPS6KA5 0 genome.wustl.edu 37 14 91386584 91386584 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 14 91386584 91386584 C T SNP RPS6KA5 ENST00000261991 human ensembl 74_37 -1 known missense c.772 p.D258N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA5 HGNC ENSG00000100784 tier1 - - 138 0 0.00 122 19 13.48 RUFY3 0 genome.wustl.edu 37 4 71629279 71629279 + Silent SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 4 71629279 71629279 T G SNP RUFY3 ENST00000417478 human ensembl 74_37 +1 known silent c.543 p.T181 1.000 pfam_Run,pfscan_Run pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 58 0 0.00 50 4 7.41 SEC14L5 0 genome.wustl.edu 37 16 5040825 5040825 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 16 5040825 5040825 C T SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known missense c.403 p.R135W 1.000 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 tier1 - - 41 0 0.00 31 8 20.51 SETBP1 0 genome.wustl.edu 37 18 42643182 42643182 + Missense_Mutation SNP A A G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 18 42643182 42643182 A G SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.4310 p.K1437R 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 50 0 0.00 35 6 14.63 SIGLEC1 0 genome.wustl.edu 37 20 3679902 3679902 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 20 3679902 3679902 C T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.1733 p.R578Q 0.911 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 tier1 - - 37 0 0.00 22 7 24.14 SLC12A7 0 genome.wustl.edu 37 5 1083926 1083926 + Missense_Mutation SNP A A G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 1083926 1083926 A G SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.1063 p.Y355H 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 tier1 - - 95 0 0.00 64 7 9.86 SORBS2 0 genome.wustl.edu 37 4 186541294 186541294 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 4 186541294 186541294 G A SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.2515 p.P839S 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 tier1 - - 222 0 0.00 173 19 9.90 SOX11 0 genome.wustl.edu 37 2 5833492 5833492 + Silent SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 5833492 5833492 G A SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known silent c.639 p.A213 0.771 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 tier1 - - 30 0 0.00 45 8 15.09 SPATA31D5P 0 genome.wustl.edu 37 9 84530576 84530576 + RNA SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 9 84530576 84530576 A C SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SPATA31D5P HGNC ENSG00000240632 tier1 - - 83 0 0.00 86 7 7.53 SPIRE1 0 genome.wustl.edu 37 18 12479738 12479738 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 18 12479738 12479738 C T SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known missense c.1364 p.R455K 1.000 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 tier1 - - 53 0 0.00 40 6 13.04 SYNE1 0 genome.wustl.edu 37 6 152560702 152560702 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 6 152560702 152560702 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.20033 p.H6678P 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 - - 97 0 0.00 113 10 8.13 SYNE1 0 genome.wustl.edu 37 6 152804233 152804233 + Missense_Mutation SNP A A G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 6 152804233 152804233 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.1337 p.L446P 0.996 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 - - 289 0 0.00 252 28 10.00 TBX5 0 genome.wustl.edu 37 12 114823291 114823291 + Silent SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 12 114823291 114823291 T G SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known silent c.745 p.R249 0.972 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 tier1 - - 76 0 0.00 83 10 10.75 TCTE1 0 genome.wustl.edu 37 6 44250074 44250074 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 6 44250074 44250074 C T SNP TCTE1 ENST00000371505 human ensembl 74_37 -1 known missense c.1069 p.A357T 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 tier1 - - 210 0 0.00 180 21 10.45 TFPI2 0 genome.wustl.edu 37 7 93518469 93518469 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 7 93518469 93518469 T G SNP TFPI2 ENST00000222543 human ensembl 74_37 -1 known missense c.338 p.Y113S 0.993 pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 tier1 - - 138 0 0.00 160 10 5.88 TIMP1 0 genome.wustl.edu 37 X 47444707 47444707 + Missense_Mutation SNP G G T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d X 47444707 47444707 G T SNP TIMP1 ENST00000377018 human ensembl 74_37 +1 known missense c.76 p.A26S 1.000 NULL pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP - no_errors TIMP1 HGNC ENSG00000102265 tier1 - - 28 0 0.00 40 6 13.04 TMPRSS15 0 genome.wustl.edu 37 21 19653531 19653531 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 21 19653531 19653531 A C SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.2494 p.L832V 0.676 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,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 - - 125 0 0.00 95 12 11.21 TTBK2 0 genome.wustl.edu 37 15 43044335 43044335 + Nonsense_Mutation SNP C C A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 15 43044335 43044335 C A SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known nonsense c.3109 p.E1037* 0.999 NULL 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 TTBK2 HGNC ENSG00000128881 tier1 - - 85 0 0.00 61 8 11.59 UBE2Q2 0 genome.wustl.edu 37 15 76171507 76171507 + Missense_Mutation SNP T T C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 15 76171507 76171507 T C SNP UBE2Q2 ENST00000267938 human ensembl 74_37 +1 known missense c.803 p.I268T 1.000 superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q2 HGNC ENSG00000140367 tier1 - - 63 0 0.00 60 11 15.49 USP31 0 genome.wustl.edu 37 16 23079813 23079813 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 16 23079813 23079813 G A SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.3613 p.R1205C 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 tier1 - - 243 0 0.00 208 13 5.88 VIM 0 genome.wustl.edu 37 10 17277328 17277328 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 10 17277328 17277328 A C SNP VIM ENST00000224237 human ensembl 74_37 +1 known missense c.1169 p.K390T 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 tier1 - - 142 0 0.00 94 8 7.84 ZCCHC5 0 genome.wustl.edu 37 X 77913639 77913639 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d X 77913639 77913639 A C SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known missense c.279 p.D93E 0.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 tier1 - - 22 0 0.00 17 8 32.00 ZNF761 0 genome.wustl.edu 37 19 53959418 53959418 + RNA SNP A A G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 19 53959418 53959418 A G SNP ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.062 - - - no_errors ZNF761 HGNC ENSG00000160336 tier1 - - 121 0 0.00 112 17 13.18 OLFM3 0 genome.wustl.edu 37 1 102302456 102302456 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 1 102302456 102302456 T G SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known missense c.255 p.Q85H 1.000 pfam_Noelin-1,superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 117 0 0 89 10 10.101 DENND2C 0 genome.wustl.edu 37 1 115138466 115138466 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 1 115138466 115138466 T G SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known missense c.2312 p.K771T 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 136 0 0 107 19 15.0794 SGIP1 0 genome.wustl.edu 37 1 67147789 67147789 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 1 67147789 67147789 C T SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.1064 p.P355L 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 266 1 0.374532 230 29 11.1969 SORCS3 0 genome.wustl.edu 37 10 107012578 107012578 + Missense_Mutation SNP G G T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 10 107012578 107012578 G T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.3151 p.G1051C 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 110 0 0 79 8 9.1954 VIM 0 genome.wustl.edu 37 10 17277328 17277328 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 10 17277328 17277328 A C SNP VIM ENST00000224237 human ensembl 74_37 +1 known missense c.1169 p.K390T 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 126 0 0 85 8 8.60215 PCDH15 0 genome.wustl.edu 37 10 55582512 55582512 + Silent SNP T T A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 10 55582512 55582512 T A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.4974 p.S1658 0.524 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 89 0 0 85 5 5.55556 BICC1 0 genome.wustl.edu 37 10 60558259 60558259 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 10 60558259 60558259 T G SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.1467 p.S489R 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 167 0 0 114 7 5.78512 ITIH2 0 genome.wustl.edu 37 10 7750999 7750999 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 10 7750999 7750999 A C SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known missense c.207 p.Q69H 0.999 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 139 0 0 117 8 6.4 ARHGAP20 0 genome.wustl.edu 37 11 110451557 110451557 + Missense_Mutation SNP C C G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 11 110451557 110451557 C G SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.2113 p.E705Q 0.993 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 104 0 0 74 8 9.7561 HTR3A 0 genome.wustl.edu 37 11 113857585 113857585 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 11 113857585 113857585 A C SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known missense c.1069 p.S357R 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 77 0 0 76 7 8.43373 OR5L1 0 genome.wustl.edu 37 11 55578986 55578986 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 11 55578986 55578986 T G SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known missense c.44 p.L15R 0.072 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 217 0 0 206 14 6.36364 DCHS1 0 genome.wustl.edu 37 11 6654182 6654182 + Missense_Mutation SNP C C A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 11 6654182 6654182 C A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.2561 p.R854L 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 68 0 0 59 4 6.34921 SHANK2 0 genome.wustl.edu 37 11 70331696 70331696 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 11 70331696 70331696 C T SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.4705 p.V1569M 0.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 211 1 0.471698 163 17 9.44444 TBX5 0 genome.wustl.edu 37 12 114823291 114823291 + Silent SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 12 114823291 114823291 T G SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known silent c.745 p.R249 0.972 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 63 0 0 70 9 11.3924 ETV6 0 genome.wustl.edu 37 12 12043919 12043919 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 12 12043919 12043919 G A SNP ETV6 ENST00000396373 human ensembl 74_37 +1 known missense c.1298 p.R433H 1.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV6 HGNC ENSG00000139083 226 0 0 173 16 8.46561 ADAMTS20 0 genome.wustl.edu 37 12 43777720 43777720 + Missense_Mutation SNP C C A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 12 43777720 43777720 C A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.4513 p.V1505F 0.002 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 67 0 0 56 8 12.5 KRT72 0 genome.wustl.edu 37 12 52981568 52981568 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 12 52981568 52981568 C T SNP KRT72 ENST00000293745 human ensembl 74_37 -1 known missense c.1157 p.R386Q 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 100 0 0 80 9 10.1124 MARCH9 0 genome.wustl.edu 37 12 58151953 58151953 + Silent SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 12 58151953 58151953 G A SNP MARCH9 ENST00000266643 human ensembl 74_37 +1 known silent c.576 p.S192 0.929 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH9 HGNC ENSG00000139266 75 0 0 52 4 7.14286 DPY19L2 0 genome.wustl.edu 37 12 64041119 64041119 + Silent SNP T T A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 12 64041119 64041119 T A SNP DPY19L2 ENST00000324472 human ensembl 74_37 -1 known silent c.615 p.T205 0.848 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 122 0 0 108 6 5.26316 GRIP1 0 genome.wustl.edu 37 12 66909436 66909436 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 12 66909436 66909436 T G SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.687 p.E229D 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 186 0 0 161 13 7.47126 CDC16 0 genome.wustl.edu 37 13 115010426 115010426 + Missense_Mutation SNP G G C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 13 115010426 115010426 G C SNP CDC16 ENST00000356221 human ensembl 74_37 +1 known missense c.829 p.E277Q 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC16 HGNC ENSG00000130177 75 0 0 72 6 7.69231 CSNK1A1L 0 genome.wustl.edu 37 13 37679178 37679178 + Silent SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 13 37679178 37679178 G A SNP CSNK1A1L ENST00000379800 human ensembl 74_37 -1 known silent c.216 p.G72 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1A1L HGNC ENSG00000180138 98 0 0 104 6 5.45455 CYP46A1 0 genome.wustl.edu 37 14 100184456 100184456 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 14 100184456 100184456 G A SNP CYP46A1 ENST00000261835 human ensembl 74_37 +1 known missense c.973 p.V325M 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP46A1 HGNC ENSG00000036530 78 0 0 50 6 10.7143 AKAP6 0 genome.wustl.edu 37 14 33291822 33291822 + Silent SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 14 33291822 33291822 T G SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known silent c.4803 p.T1601 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 133 0 0 77 5 6.09756 RPS6KA5 0 genome.wustl.edu 37 14 91386584 91386584 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 14 91386584 91386584 C T SNP RPS6KA5 ENST00000261991 human ensembl 74_37 -1 known missense c.772 p.D258N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA5 HGNC ENSG00000100784 111 0 0 102 15 12.8205 UNC79 0 genome.wustl.edu 37 14 93998915 93998915 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 14 93998915 93998915 T G SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.1113 p.C371W 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 104 1 0.952381 69 8 10.3896 SNRPN 0 genome.wustl.edu 37 15 25220656 25220656 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 15 25220656 25220656 A C SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known missense c.167 p.K56T 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 132 0 0 105 6 5.40541 TTBK2 0 genome.wustl.edu 37 15 43044335 43044335 + Nonsense_Mutation SNP C C A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 15 43044335 43044335 C A SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known nonsense c.3109 p.E1037* 0.999 NULL 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 TTBK2 HGNC ENSG00000128881 83 0 0 58 8 12.1212 CGNL1 0 genome.wustl.edu 37 15 57815837 57815837 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 15 57815837 57815837 G A SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known missense c.2866 p.E956K 1.000 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 59 0 0 40 8 16.6667 UBE2Q2 0 genome.wustl.edu 37 15 76171507 76171507 + Missense_Mutation SNP T T C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 15 76171507 76171507 T C SNP UBE2Q2 ENST00000267938 human ensembl 74_37 +1 known missense c.803 p.I268T 1.000 superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q2 HGNC ENSG00000140367 55 0 0 51 8 13.5593 USP31 0 genome.wustl.edu 37 16 23079813 23079813 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 16 23079813 23079813 G A SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.3613 p.R1205C 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 199 0 0 173 10 5.46448 FBRS 0 genome.wustl.edu 37 16 30680784 30680784 + Missense_Mutation SNP G G C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 16 30680784 30680784 G C SNP FBRS ENST00000356166 human ensembl 74_37 +1 known missense c.2761 p.A921P 0.998 NULL prints_AUTS2 - no_errors FBRS HGNC ENSG00000156860 337 0 0 268 17 5.96491 SEC14L5 0 genome.wustl.edu 37 16 5040825 5040825 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 16 5040825 5040825 C T SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known missense c.403 p.R135W 1.000 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 38 0 0 30 7 18.9189 CNOT1 0 genome.wustl.edu 37 16 58616794 58616794 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 16 58616794 58616794 G A SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.947 p.P316L 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 83 0 0 58 9 13.4328 MYH8 0 genome.wustl.edu 37 17 10304026 10304026 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 17 10304026 10304026 C T SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.3416 p.R1139H 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 124 0 0 131 7 5.07246 KIF2B 0 genome.wustl.edu 37 17 51901612 51901612 + Missense_Mutation SNP A A G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 17 51901612 51901612 A G SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1218 p.I406M 0.002 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 KIF2B HGNC ENSG00000141200 45 0 0 70 5 6.66667 SPIRE1 0 genome.wustl.edu 37 18 12479738 12479738 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 18 12479738 12479738 C T SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known missense c.1364 p.R455K 1.000 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 51 0 0 37 6 13.9535 SETBP1 0 genome.wustl.edu 37 18 42643182 42643182 + Missense_Mutation SNP A A G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 18 42643182 42643182 A G SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.4310 p.K1437R 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 46 0 0 32 6 15.7895 TCEB3B 0 genome.wustl.edu 37 18 44560209 44560209 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 18 44560209 44560209 G A SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.1427 p.P476L 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 143 1 0.694444 122 11 8.27068 RAX 0 genome.wustl.edu 37 18 56939727 56939727 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 18 56939727 56939727 G A SNP RAX ENST00000334889 human ensembl 74_37 -1 known missense c.409 p.R137W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors RAX HGNC ENSG00000134438 153 0 0 138 15 9.80392 MC4R 0 genome.wustl.edu 37 18 58038662 58038662 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 18 58038662 58038662 T G SNP MC4R ENST00000299766 human ensembl 74_37 -1 known missense c.921 p.Q307H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Cnbnoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 97 0 0 79 8 9.1954 ENOSF1 0 genome.wustl.edu 37 18 683258 683258 + Silent SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 18 683258 683258 G A SNP ENOSF1 ENST00000340116 human ensembl 74_37 -1 known silent c.927 p.A309 0.000 pfam_Mandelate_racemase_C,smart_Mandelate_racemase_C pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C - no_errors ENOSF1 HGNC ENSG00000132199 133 0 0 111 8 6.72269 COL5A3 0 genome.wustl.edu 37 19 10108801 10108801 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 19 10108801 10108801 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.1135 p.G379R 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 231 0 0 210 20 8.69565 ANKLE1 0 genome.wustl.edu 37 19 17394354 17394354 + Missense_Mutation SNP G G C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 19 17394354 17394354 G C SNP ANKLE1 ENST00000394458 human ensembl 74_37 +1 known missense c.781 p.V261L 0.000 superfamily_Lactate_DH/Glyco_Ohase_4_C pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom - no_errors ANKLE1 HGNC ENSG00000160117 78 0 0 73 12 14.1176 KIRREL2 0 genome.wustl.edu 37 19 36357076 36357076 + Silent SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 19 36357076 36357076 C T SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known silent c.1809 p.Y603 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 172 0 0 119 12 9.16031 ZNF285 0 genome.wustl.edu 37 19 44891924 44891924 + Silent SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 19 44891924 44891924 G A SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known silent c.483 p.N161 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF285 HGNC ENSG00000267508 124 0 0 91 10 9.90099 ZNF761 0 genome.wustl.edu 37 19 53959418 53959418 + RNA SNP A A G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 19 53959418 53959418 A G SNP ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.062 - - - no_errors ZNF761 HGNC ENSG00000160336 111 0 0 105 15 12.5 LRP1B 0 genome.wustl.edu 37 2 141079561 141079561 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 141079561 141079561 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.12611 p.N4204T 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 71 0 0 59 7 10.6061 PXDN 0 genome.wustl.edu 37 2 1664809 1664809 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 1664809 1664809 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.1681 p.D561N 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 39 0 0 35 6 14.6341 GPR155 0 genome.wustl.edu 37 2 175301066 175301066 + Silent SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 175301066 175301066 G A SNP GPR155 ENST00000295500 human ensembl 74_37 -1 known silent c.2391 p.S797 0.863 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 144 0 0 146 17 10.4294 FSIP2 0 genome.wustl.edu 37 2 186669977 186669977 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 186669977 186669977 T G SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.16211 p.L5404R 1.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 102 0 0 84 17 16.8317 MYT1L 0 genome.wustl.edu 37 2 1926123 1926123 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 1926123 1926123 A C SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.1418 p.L473R 0.465 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 117 0 0 83 14 14.433 MYT1L 0 genome.wustl.edu 37 2 1926933 1926933 + Missense_Mutation SNP T T A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 1926933 1926933 T A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.608 p.K203M 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 46 0 0 32 4 11.1111 EPCAM 0 genome.wustl.edu 37 2 47612312 47612312 + Missense_Mutation SNP C C A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 47612312 47612312 C A SNP EPCAM ENST00000456133 human ensembl 74_37 +1 known missense c.950 p.S317Y 0.996 NULL pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors EPCAM HGNC ENSG00000119888 166 0 0 209 13 5.85586 SOX11 0 genome.wustl.edu 37 2 5833492 5833492 + Silent SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 5833492 5833492 G A SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known silent c.639 p.A213 0.771 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 25 0 0 31 8 20.5128 CAPG 0 genome.wustl.edu 37 2 85622746 85622746 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 85622746 85622746 C T SNP CAPG ENST00000263867 human ensembl 74_37 -1 known missense c.896 p.R299Q 0.098 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors CAPG HGNC ENSG00000042493 29 0 0 35 7 16.6667 ANKRD20A8P 0 genome.wustl.edu 37 2 95519384 95519384 + RNA SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 2 95519384 95519384 A C SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.938 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 202 0 0 144 25 14.7929 LZTS3 0 genome.wustl.edu 37 20 3146283 3146283 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 20 3146283 3146283 G A SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.1183 p.R395W 1.000 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 24 0 0 18 3 14.2857 SIGLEC1 0 genome.wustl.edu 37 20 3679902 3679902 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 20 3679902 3679902 C T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.1733 p.R578Q 0.911 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 30 0 0 20 6 23.0769 MYBL2 0 genome.wustl.edu 37 20 42344712 42344712 + Silent SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 20 42344712 42344712 C T SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known silent c.2088 p.T696 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 229 0 0 248 22 8.14815 TMPRSS15 0 genome.wustl.edu 37 21 19653531 19653531 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 21 19653531 19653531 A C SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.2494 p.L832V 0.676 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,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 106 0 0 88 11 11.1111 KRTAP11-1 0 genome.wustl.edu 37 21 32253376 32253376 + Silent SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 21 32253376 32253376 C T SNP KRTAP11-1 ENST00000332378 human ensembl 74_37 -1 known silent c.468 p.V156 0.580 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP11-1 HGNC ENSG00000182591 136 0 0 90 6 6.25 OLIG1 0 genome.wustl.edu 37 21 34442984 34442984 + Silent SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 21 34442984 34442984 C T SNP OLIG1 ENST00000382348 human ensembl 74_37 +1 known silent c.432 p.P144 0.081 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG1 HGNC ENSG00000184221 25 0 0 37 3 7.5 MYLK 0 genome.wustl.edu 37 3 123419410 123419410 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 123419410 123419410 C T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.2905 p.E969K 1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 84 0 0 77 8 9.41176 ARHGEF26 0 genome.wustl.edu 37 3 153840234 153840234 + Silent SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 153840234 153840234 C T SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known silent c.453 p.N151 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 36 0 0 32 4 11.1111 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 44 0 0 34 5 12.8205 PDCD6IP 0 genome.wustl.edu 37 3 33895468 33895468 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 33895468 33895468 T G SNP PDCD6IP ENST00000457054 human ensembl 74_37 +1 known missense c.2003 p.F668C 1.000 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 48 0 0 53 3 5.35714 CTNNB1 0 genome.wustl.edu 37 3 41277900 41277900 + Missense_Mutation SNP G G C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 41277900 41277900 G C SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.1864 p.A622P 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 119 0 0 96 9 8.57143 AMIGO3 0 genome.wustl.edu 37 3 49755765 49755765 + Silent SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 49755765 49755765 G A SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known silent c.1134 p.P378 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 56 0 0 57 4 6.55738 CACNA2D3 0 genome.wustl.edu 37 3 55107819 55107819 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 55107819 55107819 A C SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.3116 p.K1039T 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 30 0 0 23 3 11.5385 ROBO2 0 genome.wustl.edu 37 3 77147475 77147475 + Silent SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 3 77147475 77147475 G A SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known silent c.372 p.A124 0.471 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 54 0 0 70 7 9.09091 SORBS2 0 genome.wustl.edu 37 4 186541294 186541294 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 4 186541294 186541294 G A SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.2515 p.P839S 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 193 0 0 157 17 9.77011 RUFY3 0 genome.wustl.edu 37 4 71629279 71629279 + Silent SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 4 71629279 71629279 T G SNP RUFY3 ENST00000417478 human ensembl 74_37 +1 known silent c.543 p.T181 1.000 pfam_Run,pfscan_Run pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 54 0 0 47 4 7.84314 CCSER1 0 genome.wustl.edu 37 4 91230155 91230155 + Missense_Mutation SNP C C G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 4 91230155 91230155 C G SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known missense c.720 p.S240R 1.000 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 59 0 0 57 7 10.9375 SLC12A7 0 genome.wustl.edu 37 5 1083926 1083926 + Missense_Mutation SNP A A G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 1083926 1083926 A G SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.1063 p.Y355H 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 88 0 0 61 7 10.2941 SEC24A 0 genome.wustl.edu 37 5 134002578 134002578 + Missense_Mutation SNP G G T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 134002578 134002578 G T SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known missense c.631 p.G211W 0.955 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 97 0 0 107 9 7.75862 PCDHA3 0 genome.wustl.edu 37 5 140180976 140180976 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 140180976 140180976 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.194 p.R65Q 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 255 0 0 178 18 9.18367 IRX4 0 genome.wustl.edu 37 5 1880876 1880876 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 1880876 1880876 G A SNP IRX4 ENST00000231357 human ensembl 74_37 -1 known missense c.370 p.P124S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX4 HGNC ENSG00000113430 130 0 0 130 7 5.10949 C7 0 genome.wustl.edu 37 5 40972522 40972522 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 40972522 40972522 C T SNP C7 ENST00000313164 human ensembl 74_37 +1 known missense c.1900 p.P634S 0.963 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 34 0 0 35 7 16.6667 MROH2B 0 genome.wustl.edu 37 5 41058242 41058242 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 41058242 41058242 G A SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.679 p.R227C 0.171 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 50 0 0 30 12 28.5714 CMYA5 0 genome.wustl.edu 37 5 79030540 79030540 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 79030540 79030540 A C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.5952 p.E1984D 0.166 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 66 0 0 63 6 8.69565 POU5F2 0 genome.wustl.edu 37 5 93077098 93077098 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 93077098 93077098 G A SNP POU5F2 ENST00000510627 human ensembl 74_37 -1 known missense c.172 p.P58S 0.103 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F2 HGNC ENSG00000248483 45 0 0 43 5 10.4167 SYNE1 0 genome.wustl.edu 37 6 152560702 152560702 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 6 152560702 152560702 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.20033 p.H6678P 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 79 0 0 96 8 7.69231 SYNE1 0 genome.wustl.edu 37 6 152804233 152804233 + Missense_Mutation SNP A A G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 6 152804233 152804233 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.1337 p.L446P 0.996 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 251 0 0 223 23 9.34959 DEF6 0 genome.wustl.edu 37 6 35285703 35285703 + Missense_Mutation SNP C C G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 6 35285703 35285703 C G SNP DEF6 ENST00000316637 human ensembl 74_37 +1 known missense c.843 p.F281L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DEF6 HGNC ENSG00000023892 38 0 0 35 3 7.89474 TCTE1 0 genome.wustl.edu 37 6 44250074 44250074 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 6 44250074 44250074 C T SNP TCTE1 ENST00000371505 human ensembl 74_37 -1 known missense c.1069 p.A357T 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 176 0 0 150 17 10.1796 RIMS1 0 genome.wustl.edu 37 6 72889429 72889429 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 6 72889429 72889429 A C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.623 p.K208T 1.000 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 RIMS1 HGNC ENSG00000079841 108 0 0 85 5 5.55556 CPA1 0 genome.wustl.edu 37 7 130023634 130023634 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 7 130023634 130023634 C T SNP CPA1 ENST00000011292 human ensembl 74_37 +1 known missense c.695 p.T232M 0.510 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 91 0 0 70 7 9.09091 PLXNA4 0 genome.wustl.edu 37 7 132192667 132192667 + Silent SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 7 132192667 132192667 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.786 p.E262 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 64 0 0 63 5 7.35294 HIBADH 0 genome.wustl.edu 37 7 27669094 27669094 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 7 27669094 27669094 G A SNP HIBADH ENST00000265395 human ensembl 74_37 -1 known missense c.380 p.S127L 1.000 pfam_6PGDH_NADP-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_IsoBut3OH_DH pfam_6PGDH_NADP-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_IsoBut3OH_DH - no_errors HIBADH HGNC ENSG00000106049 57 0 0 53 8 13.1148 PAPOLB 0 genome.wustl.edu 37 7 4901338 4901338 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 7 4901338 4901338 G A SNP PAPOLB ENST00000404991 human ensembl 74_37 -1 known missense c.101 p.T34M 0.459 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 26 0 0 13 3 18.75 TYW1B 0 genome.wustl.edu 37 7 72081809 72081809 + Missense_Mutation SNP T T C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 7 72081809 72081809 T C SNP TYW1B ENST00000343721 human ensembl 74_37 -1 known missense c.511 p.R171G 1.000 pfam_tRNA_wybutosine-synth pfam_rSAM,pfam_tRNA_wybutosine-synth - no_errors TYW1B HGNC ENSG00000254184 89 0 0 76 7 8.43373 HGF 0 genome.wustl.edu 37 7 81392180 81392180 + Missense_Mutation SNP T T A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 7 81392180 81392180 T A SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.97 p.R33W 1.000 NULL pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 19 0 0 19 3 13.6364 TFPI2 0 genome.wustl.edu 37 7 93518469 93518469 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 7 93518469 93518469 T G SNP TFPI2 ENST00000222543 human ensembl 74_37 -1 known missense c.338 p.Y113S 0.993 pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 130 0 0 149 9 5.6962 SLC25A32 0 genome.wustl.edu 37 8 104415465 104415465 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 104415465 104415465 T G SNP SLC25A32 ENST00000297578 human ensembl 74_37 -1 known missense c.479 p.H160P 0.995 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A32 HGNC ENSG00000164933 70 0 0 72 7 8.86076 LRP12 0 genome.wustl.edu 37 8 105521191 105521191 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 105521191 105521191 T G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.191 p.N64T 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 91 0 0 92 7 7.07071 CSGALNACT1 0 genome.wustl.edu 37 8 19362959 19362959 + Missense_Mutation SNP G G T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 19362959 19362959 G T SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.387 p.D129E 0.972 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 114 0 0 89 9 9.18367 RP1 0 genome.wustl.edu 37 8 55540239 55540239 + Missense_Mutation SNP A A G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 55540239 55540239 A G SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.3797 p.K1266R 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 164 0 0 167 9 5.11364 CYP7B1 0 genome.wustl.edu 37 8 65527645 65527645 + Missense_Mutation SNP T T C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 65527645 65527645 T C SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.995 p.K332R 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 89 0 0 81 8 8.98876 NCOA2 0 genome.wustl.edu 37 8 71068903 71068903 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 71068903 71068903 G A SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.1697 p.P566L 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 105 0 0 112 12 9.67742 GDF6 0 genome.wustl.edu 37 8 97172636 97172636 + Missense_Mutation SNP G G T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 97172636 97172636 G T SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.285 p.H95Q 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 162 0 0 173 12 6.48649 PTDSS1 0 genome.wustl.edu 37 8 97274408 97274408 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 8 97274408 97274408 G A SNP PTDSS1 ENST00000517309 human ensembl 74_37 +1 known missense c.140 p.S47N 1.000 NULL pfam_PSS - no_errors PTDSS1 HGNC ENSG00000156471 98 0 0 86 6 6.52174 COL27A1 0 genome.wustl.edu 37 9 117051006 117051006 + Missense_Mutation SNP C C T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 9 117051006 117051006 C T SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.4069 p.R1357C 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 61 0 0 48 8 14.2857 PDCL 0 genome.wustl.edu 37 9 125582522 125582522 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 9 125582522 125582522 G A SNP PDCL ENST00000259467 human ensembl 74_37 -1 known missense c.748 p.R250C 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDCL HGNC ENSG00000136940 84 0 0 58 4 6.45161 CERCAM 0 genome.wustl.edu 37 9 131186478 131186478 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 9 131186478 131186478 G A SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known missense c.488 p.G163E 0.065 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 222 0 0 236 19 7.45098 ELAVL2 0 genome.wustl.edu 37 9 23731060 23731060 + Missense_Mutation SNP T T A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 9 23731060 23731060 T A SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known missense c.293 p.N98I 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 57 0 0 43 6 12.2449 SPATA31D5P 0 genome.wustl.edu 37 9 84530576 84530576 + RNA SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 9 84530576 84530576 A C SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SPATA31D5P HGNC ENSG00000240632 80 0 0 85 6 6.59341 PTCH1 0 genome.wustl.edu 37 9 98209514 98209514 + Missense_Mutation SNP G G A TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 9 98209514 98209514 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.4024 p.R1342C 0.998 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 143 0 0 131 14 9.65517 GUCY2F 0 genome.wustl.edu 37 X 108619317 108619317 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d X 108619317 108619317 T G SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known missense c.3230 p.D1077A 0.911 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 165 0 0 159 13 7.55814 IL13RA2 0 genome.wustl.edu 37 X 114249030 114249030 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d X 114249030 114249030 T G SNP IL13RA2 ENST00000243213 human ensembl 74_37 -1 known missense c.354 p.E118D 0.996 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 80 0 0 73 26 26.2626 GRPR 0 genome.wustl.edu 37 X 16168546 16168546 + Missense_Mutation SNP T T G TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d X 16168546 16168546 T G SNP GRPR ENST00000380289 human ensembl 74_37 +1 known missense c.532 p.F178V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 73 0 0 49 36 42.3529 TIMP1 0 genome.wustl.edu 37 X 47444707 47444707 + Missense_Mutation SNP G G T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d X 47444707 47444707 G T SNP TIMP1 ENST00000377018 human ensembl 74_37 +1 known missense c.76 p.A26S 1.000 NULL pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP - no_errors TIMP1 HGNC ENSG00000102265 23 0 0 33 5 13.1579 CCDC120 0 genome.wustl.edu 37 X 48925185 48925185 + Missense_Mutation SNP G G T TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d X 48925185 48925185 G T SNP CCDC120 ENST00000603986 human ensembl 74_37 +1 known missense c.1535 p.R512L 0.994 NULL pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 20 0 0 19 3 13.6364 ZCCHC5 0 genome.wustl.edu 37 X 77913639 77913639 + Missense_Mutation SNP A A C TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d X 77913639 77913639 A C SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known missense c.279 p.D93E 0.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 21 0 0 14 8 36.3636 LOC101929540 0 genome.wustl.edu 37 1 700532 700532 + RNA DEL T T - TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 1 700532 700532 T - DEL LOC101929540 ENST00000428504 human ensembl 74_37 -1 known rna NULL NULL 0.239 - - - no_errors RP11-206L10.2 Clone_based_vega_gene ENSG00000228327 11 0 0 8 2 20 DNM1P47 0 genome.wustl.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 15 102292874 102292876 CTC - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 8 0 0 10 2 16.6667 PLAUR 0 genome.wustl.edu 37 19 44153281 44153281 + Frame_Shift_Del DEL T T - TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 19 44153281 44153281 T - DEL PLAUR ENST00000340093 human ensembl 74_37 -1 known frame_shift_del c.769 p.S257fs 0.006 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors PLAUR HGNC ENSG00000011422 97 0 0 77 6 7.22892 RICTOR 0 genome.wustl.edu 37 5 39021167 39021167 + Frame_Shift_Del DEL G G - TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d 5 39021167 39021167 G - DEL RICTOR ENST00000296782 human ensembl 74_37 -1 known frame_shift_del c.169 p.L57fs 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 127 0 0 91 7 7.14286 WWC3 0 genome.wustl.edu 37 X 10102554 10102554 + Frame_Shift_Del DEL G G - TCGA-D7-A747-01A-22D-A33T-08 TCGA-D7-A747-10A-21D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 000807ce-7517-4bdc-9291-8ca9228612c2 8d30fddd-2e36-4e44-b2e4-8729447d775d X 10102554 10102554 G - DEL WWC3 ENST00000380861 human ensembl 74_37 +1 known frame_shift_del c.2681 p.R894fs 0.712 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 121 0 0 95 57 37.5