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 ABCA5 0 genome.wustl.edu 37 17 67257342 67257342 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 17 67257342 67257342 G T SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known missense c.3491 p.A1164E 0.051 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 tier1 - - 28 0 0.00 28 4 12.50 ACACB 0 genome.wustl.edu 37 12 109604754 109604754 + Missense_Mutation SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 12 109604754 109604754 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.742 p.A248T 0.992 superfamily_PreATP-grasp_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 tier1 - - 37 0 0.00 43 13 23.21 ACE 0 genome.wustl.edu 37 17 61559062 61559062 + Missense_Mutation SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 17 61559062 61559062 G A SNP ACE ENST00000290866 human ensembl 74_37 +1 known missense c.1081 p.A361T 1.000 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 tier1 - - 87 0 0.00 59 13 17.81 ADH1C 0 genome.wustl.edu 37 4 100266378 100266378 + Splice_Site SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 4 100266378 100266378 C T SNP ADH1C ENST00000505942 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.000 - - - no_errors ADH1C HGNC ENSG00000248144 tier1 - - 59 0 0.00 65 10 13.33 AFF3 0 genome.wustl.edu 37 2 100210027 100210027 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 2 100210027 100210027 G T SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.2171 p.S724Y 0.981 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 41 0 0.00 50 3 5.66 ALDH8A1 0 genome.wustl.edu 37 6 135265095 135265095 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 6 135265095 135265095 C T SNP ALDH8A1 ENST00000265605 human ensembl 74_37 -1 known missense c.148 p.A50T 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 tier1 rs146771623 - 26 0 0.00 26 13 33.33 ALG10 0 genome.wustl.edu 37 12 34179462 34179462 + Missense_Mutation SNP A A T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 12 34179462 34179462 A T SNP ALG10 ENST00000266483 human ensembl 74_37 +1 known missense c.1034 p.K345I 0.989 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 tier1 - - 93 0 0.00 75 39 34.21 AOX2P 0 genome.wustl.edu 37 2 201619551 201619551 + RNA DEL A A - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 2 201619551 201619551 A - DEL AOX2P ENST00000470911 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors AOX2P HGNC ENSG00000243478 tier1 35 0 0.00 47 3 6.00 AP3B2 0 genome.wustl.edu 37 15 83349865 83349865 + Missense_Mutation SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 15 83349865 83349865 G A SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.587 p.T196M 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 tier1 - - 22 0 0.00 20 4 16.67 AQP4-AS1 0 genome.wustl.edu 37 18 24513043 24513043 + RNA SNP C C G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 18 24513043 24513043 C G SNP AQP4-AS1 ENST00000568797 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AQP4-AS1 HGNC ENSG00000260372 tier1 - - 44 0 0.00 21 11 34.38 ARHGAP5 0 genome.wustl.edu 37 14 32559966 32559966 + Missense_Mutation SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 14 32559966 32559966 G A SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.91 p.G31R 1.000 superfamily_P-loop_NTPase,prints_Small_GTPase pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 - - 55 0 0.00 46 25 35.21 ASXL3 0 genome.wustl.edu 37 18 31323377 31323377 + Missense_Mutation SNP A A G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 18 31323377 31323377 A G SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.3565 p.S1189G 0.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 24 0 0.00 17 4 19.05 ATG16L2 0 genome.wustl.edu 37 11 72538335 72538335 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 72538335 72538335 G T SNP ATG16L2 ENST00000321297 human ensembl 74_37 +1 known missense c.1469 p.S490I 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ATG16L2 HGNC ENSG00000168010 tier1 - - 41 0 0.00 56 4 6.67 ATM 0 genome.wustl.edu 37 11 108168036 108168036 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 108168036 108168036 G T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.4932 p.M1644I 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 22 0 0.00 34 2 5.56 ATP2A3 0 genome.wustl.edu 37 17 3839574 3839574 + Nonsense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 17 3839574 3839574 G T SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known nonsense c.2511 p.Y837* 0.987 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 tier1 - - 70 0 0.00 51 8 13.56 ATP2C1 0 genome.wustl.edu 37 3 130683834 130683834 + Missense_Mutation SNP C C A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 3 130683834 130683834 C A SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.1169 p.T390K 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 65 0 0.00 54 4 6.90 B3GNT1 0 genome.wustl.edu 37 11 66114142 66114142 + Missense_Mutation SNP C C A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 66114142 66114142 C A SNP B3GNT1 ENST00000311181 human ensembl 74_37 -1 known missense c.875 p.C292F 1.000 NULL NULL - no_errors B3GNT1 HGNC ENSG00000174684 23 0 0.00 23 2 8.00 BAZ1B 0 genome.wustl.edu 37 7 72856562 72856562 + Silent SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 7 72856562 72856562 G A SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known silent c.4416 p.A1472 0.001 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 tier1 - - 27 0 0.00 28 10 26.32 BBS7 0 genome.wustl.edu 37 4 122780222 122780222 + Silent SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 4 122780222 122780222 G T SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known silent c.453 p.I151 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 tier1 - - 49 0 0.00 27 14 34.15 BRD7 0 genome.wustl.edu 37 16 50357595 50357595 + Frame_Shift_Del DEL A A - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 16 50357595 50357595 A - DEL BRD7 ENST00000394689 human ensembl 74_37 -1 known frame_shift_del c.1346 p.L449fs 1.000 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 tier1 49 0 0.00 25 27 51.92 C17orf49 0 genome.wustl.edu 37 17 6919106 6919106 + Missense_Mutation SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 17 6919106 6919106 G A SNP C17orf49 ENST00000546495 human ensembl 74_37 +1 known missense c.130 p.E44K 1.000 superfamily_Homeodomain-like superfamily_Homeodomain-like - no_errors C17orf49 HGNC ENSG00000258315 56 0 0.00 44 3 6.38 C1orf63 0 genome.wustl.edu 37 1 25573454 25573454 + Missense_Mutation SNP T T A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 25573454 25573454 T A SNP C1orf63 ENST00000243189 human ensembl 74_37 -1 known missense c.1 p.M1L 0.250 NULL NULL - no_errors C1orf63 HGNC ENSG00000117616 tier1 - - 103 0 0.00 79 5 5.95 C2orf40 0 genome.wustl.edu 37 2 106690370 106690370 + Silent SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 2 106690370 106690370 C T SNP C2orf40 ENST00000238044 human ensembl 74_37 +1 known silent c.156 p.A52 0.018 NULL NULL - no_errors C2orf40 HGNC ENSG00000119147 tier1 - - 85 0 0.00 59 18 23.38 C6orf118 0 genome.wustl.edu 37 6 165715750 165715750 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 6 165715750 165715750 C T SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.61 p.V21M 0.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 tier1 - - 14 0 0.00 20 11 35.48 CADM1 0 genome.wustl.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 115080343 115080343 G T SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known silent c.1029 p.T343 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 tier1 - - 37 0 0.00 42 5 10.64 CCDC88A 0 genome.wustl.edu 37 2 55523495 55523495 + Missense_Mutation SNP G G C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 2 55523495 55523495 G C SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.4990 p.L1664V 0.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 tier1 - - 45 0 0.00 46 7 13.21 CCM2L 0 genome.wustl.edu 37 20 30602783 30602783 + Missense_Mutation SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 20 30602783 30602783 G A SNP CCM2L ENST00000300415 human ensembl 74_37 +1 known missense c.107 p.R36H 1.000 NULL NULL - no_errors CCM2L HGNC ENSG00000101331 tier1 - - 34 0 0.00 31 15 32.61 CD46 0 genome.wustl.edu 37 1 207934458 207934460 + RNA DEL CTT CTT - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 207934458 207934460 CTT - DEL CD46 ENST00000469535 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.001 - - - no_errors CD46 HGNC ENSG00000117335 tier1 21 0 0.00 16 2 11.11 CDH22 0 genome.wustl.edu 37 20 44803571 44803571 + Silent SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 20 44803571 44803571 C T SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known silent c.2061 p.A687 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 tier1 - - 28 0 0.00 43 4 8.51 CDKN2A 0 genome.wustl.edu 37 9 21974717 21974718 + Frame_Shift_Ins INS - - C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 9 21974717 21974718 0 C INS CDKN2A ENST00000446177 human ensembl 74_37 -1 known frame_shift_ins c.110_109 p.L37fs 0.000:0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 20 0 0.00 6 2 25.00 CROCCP3 0 genome.wustl.edu 37 1 16809784 16809784 + RNA SNP T T G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 16809784 16809784 T G SNP CROCCP3 ENST00000263511 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CROCCP3 HGNC ENSG00000080947 72 0 0.00 50 3 5.66 CUL5 0 genome.wustl.edu 37 11 107966314 107966314 + Missense_Mutation SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 107966314 107966314 G A SNP CUL5 ENST00000393094 human ensembl 74_37 +1 known missense c.1801 p.A601T 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 tier1 - - 52 0 0.00 44 6 11.76 DCAF4L1 0 genome.wustl.edu 37 4 41984592 41984592 + Silent SNP G G C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 4 41984592 41984592 G C SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known silent c.783 p.G261 0.996 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 tier1 - - 43 0 0.00 37 13 26.00 DCDC1 0 genome.wustl.edu 37 11 30932888 30932888 + Missense_Mutation SNP G G C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 30932888 30932888 G C SNP DCDC1 ENST00000339794 human ensembl 74_37 -1 known missense c.970 p.P324A 0.978 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 57 0 0.00 40 3 6.98 DCLRE1C 0 genome.wustl.edu 37 10 14950682 14950682 + Missense_Mutation SNP A A G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 10 14950682 14950682 A G SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known missense c.1804 p.Y602H 0.000 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 tier1 - - 59 0 0.00 54 11 16.67 DDRGK1 0 genome.wustl.edu 37 20 3175910 3175910 + Missense_Mutation SNP C C G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 20 3175910 3175910 C G SNP DDRGK1 ENST00000354488 human ensembl 74_37 -1 known missense c.600 p.E200D 0.999 pfam_DDRGK_dom-contain pfam_DDRGK_dom-contain - no_errors DDRGK1 HGNC ENSG00000198171 tier1 - - 47 0 0.00 21 10 32.26 DHRS4 0 genome.wustl.edu 37 14 24435043 24435043 + Splice_Site SNP T T C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 14 24435043 24435043 T C SNP DHRS4 ENST00000313250 human ensembl 74_37 +1 known splice_site c.479+2 e4+2 1.000 - - - no_errors DHRS4 HGNC ENSG00000157326 tier1 - - 90 0 0.00 54 23 29.87 DNAH10 0 genome.wustl.edu 37 12 124419182 124419182 + Missense_Mutation SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 12 124419182 124419182 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.13138 p.G4380R 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 40 0 0.00 35 3 7.89 EIF4E2 0 genome.wustl.edu 37 2 233415822 233415822 + RNA SNP A A C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 2 233415822 233415822 A C SNP EIF4E2 ENST00000479834 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EIF4E2 HGNC ENSG00000135930 tier1 - - 17 0 0.00 26 7 21.21 EML5 0 genome.wustl.edu 37 14 89082165 89082165 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 14 89082165 89082165 G T SNP EML5 ENST00000554922 human ensembl 74_37 -1 known missense c.5931 p.H1977Q 1.000 NULL pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 tier1 - - 52 0 0.00 40 12 23.08 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65731 65731 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a GL000212.1 65731 65731 C T SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known missense c.1480 p.P494S NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 56 0 0.00 42 6 12.50 ENSG00000221130 0 genome.wustl.edu 37 11 88845967 88845970 + RNA DEL ATAT ATAT - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 ATAT ATAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 88845967 88845970 ATAT - DEL ENSG00000221130 ENST00000408203 human ensembl 74_37 +1 novel rna NULL NULL 0.024:0.026:0.027:0.034 - - - no_errors AP001482.1 Clone_based_ensembl_gene ENSG00000221130 tier1 11 0 0.00 7 4 36.36 ENSG00000223804 0 genome.wustl.edu 37 1 143663875 143663875 + RNA SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 143663875 143663875 G T SNP ENSG00000223804 ENST00000445753 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP6-206I17.1 Clone_based_vega_gene ENSG00000223804 37 0 0.00 28 6 17.65 ENSG00000229481 0 genome.wustl.edu 37 19 38321901 38321901 + RNA SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 19 38321901 38321901 G A SNP ENSG00000229481 ENST00000443870 human ensembl 74_37 +1 known rna NULL NULL 0.892 - - - no_errors CTD-2554C21.3 Clone_based_vega_gene ENSG00000229481 tier1 - - 57 0 0.00 42 36 46.15 ENSG00000235999 0 genome.wustl.edu 37 1 149287681 149287681 + RNA SNP G G C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 149287681 149287681 G C SNP ENSG00000235999 ENST00000433084 human ensembl 74_37 +1 known rna NULL NULL 0.056 - - - no_errors RP11-403I13.8 Clone_based_vega_gene ENSG00000235999 tier1 rs146390398 - 19 0 0.00 13 4 23.53 ENSG00000261405 0 genome.wustl.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 16 33365420 33365420 A 0 DEL ENSG00000261405 ENST00000568520 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-23E10.4 Clone_based_vega_gene ENSG00000261405 21 0 0.00 36 7 16.28 ENSG00000264262 0 genome.wustl.edu 37 17 22191808 22191808 + RNA SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 17 22191808 22191808 G A SNP ENSG00000264262 ENST00000582507 human ensembl 74_37 -1 known rna NULL NULL 0.430 - - - no_errors RP11-285M22.3 Clone_based_vega_gene ENSG00000264262 tier1 - - 10 0 0.00 5 5 50.00 ENSG00000266865 0 genome.wustl.edu 37 17 29343924 29343924 + RNA SNP C C A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 17 29343924 29343924 C A SNP ENSG00000266865 ENST00000582483 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-848P1.9 Clone_based_vega_gene ENSG00000266865 tier1 - - 66 0 0.00 59 5 7.81 ENSG00000268059 0 genome.wustl.edu 37 6 13621074 13621074 + Silent SNP A A C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 6 13621074 13621074 A C SNP ENSG00000268059 ENST00000600057 human ensembl 74_37 -1 novel silent c.48 p.L16 0.669 NULL NULL - no_errors AL441883.1 Clone_based_ensembl_gene ENSG00000268059 tier1 - - 55 0 0.00 53 4 7.02 ENSG00000268059 0 genome.wustl.edu 37 6 13621119 13621119 + Missense_Mutation SNP C C G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 6 13621119 13621119 C G SNP ENSG00000268059 ENST00000600057 human ensembl 74_37 -1 novel missense c.3 p.M1I 0.000 NULL NULL - no_errors AL441883.1 Clone_based_ensembl_gene ENSG00000268059 tier1 - - 34 0 0.00 28 6 17.65 ERVV-1 0 genome.wustl.edu 37 19 53517914 53517914 + Missense_Mutation SNP C C A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 19 53517914 53517914 C A SNP ERVV-1 ENST00000602168 human ensembl 74_37 +1 known missense c.571 p.L191I 0.060 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVV-1 HGNC ENSG00000269526 tier1 - - 62 0 0.00 69 14 16.87 F8 0 genome.wustl.edu 37 X 154158692 154158692 + Missense_Mutation SNP C C G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a X 154158692 154158692 C G SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.3373 p.A1125P 0.003 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 tier1 - - 24 0 0.00 8 15 65.22 FAH 0 genome.wustl.edu 37 15 80473446 80473446 + Frame_Shift_Del DEL G G - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 15 80473446 80473446 G - DEL FAH ENST00000261755 human ensembl 74_37 +1 known frame_shift_del c.1125 p.N377fs 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 tier1 40 0 0.00 29 2 6.45 FAM182B 0 genome.wustl.edu 37 20 25755510 25755510 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 20 25755510 25755510 C T SNP FAM182B ENST00000376403 human ensembl 74_37 -1 putative missense c.446 p.R149H 0.048 NULL NULL - no_errors FAM182B HGNC ENSG00000175170 127 0 0.00 93 6 6.06 FAM185A 0 genome.wustl.edu 37 7 102427887 102427887 + Missense_Mutation SNP T T C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 7 102427887 102427887 T C SNP FAM185A ENST00000413034 human ensembl 74_37 +1 known missense c.1037 p.V346A 0.004 NULL NULL - no_errors FAM185A HGNC ENSG00000222011 95 0 0.00 94 10 9.62 FAR2 0 genome.wustl.edu 37 12 29450109 29450110 + Frame_Shift_Ins INS - - A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 12 29450109 29450110 - A INS FAR2 ENST00000182377 human ensembl 74_37 +1 known frame_shift_ins c.521_522 p.I177fs 1.000:0.992 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 tier1 12 0 0.00 20 2 9.09 FAT1 0 genome.wustl.edu 37 4 187628345 187628345 + Silent SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 4 187628345 187628345 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.2637 p.I879 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 13 0 0.00 8 9 52.94 FHIT 0 genome.wustl.edu 37 3 59999860 59999860 + Missense_Mutation SNP A A G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 3 59999860 59999860 A G SNP FHIT ENST00000341848 human ensembl 74_37 -1 known missense c.122 p.L41P 0.998 pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like - no_errors FHIT HGNC ENSG00000189283 tier1 - - 17 0 0.00 6 10 62.50 FOCAD 0 genome.wustl.edu 37 9 20982419 20982419 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 9 20982419 20982419 G T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.4702 p.A1568S 0.166 pfam_DUF3028 pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 39 0 0.00 33 2 5.71 FUT6 0 genome.wustl.edu 37 19 5831951 5831951 + Missense_Mutation SNP G G C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 19 5831951 5831951 G C SNP FUT6 ENST00000592563 human ensembl 74_37 -1 known missense c.628 p.Q210E 0.374 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT6 HGNC ENSG00000156413 tier1 - - 75 0 0.00 42 15 26.32 GK2 0 genome.wustl.edu 37 4 80327977 80327977 + Missense_Mutation SNP C C A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 4 80327977 80327977 C A SNP GK2 ENST00000358842 human ensembl 74_37 -1 known missense c.1378 p.A460S 1.000 pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 tier1 - - 72 0 0.00 59 13 18.06 GNAI2 0 genome.wustl.edu 37 3 50296330 50296331 + RNA INS - - A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 3 50296330 50296331 - A INS GNAI2 ENST00000491100 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.081 - - - no_errors GNAI2 HGNC ENSG00000114353 tier1 8 0 0.00 7 3 30.00 GOLGA8DP 0 genome.wustl.edu 37 15 22709197 22709197 + RNA SNP A A G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 15 22709197 22709197 A G SNP GOLGA8DP ENST00000314246 human ensembl 74_37 -1 known rna NULL NULL 0.505 - - - no_errors GOLGA8DP HGNC ENSG00000185182 135 0 0.00 92 5 5.10 GPR144 0 genome.wustl.edu 37 9 127220908 127220908 + Nonsense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 9 127220908 127220908 C T SNP GPR144 ENST00000334810 human ensembl 74_37 +1 known nonsense c.1699 p.Q567* 0.643 NULL pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like - no_errors GPR144 HGNC ENSG00000180264 tier1 - - 47 0 0.00 15 17 53.12 GRPR 0 genome.wustl.edu 37 X 16170440 16170440 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a X 16170440 16170440 G T SNP GRPR ENST00000380289 human ensembl 74_37 +1 known missense c.827 p.C276F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn 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 - - 30 0 0.00 5 24 82.76 HELZ2 0 genome.wustl.edu 37 20 62202938 62202938 + RNA SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 20 62202938 62202938 G A SNP HELZ2 ENST00000479540 human ensembl 74_37 -1 known rna NULL NULL 0.373 - - - no_errors HELZ2 HGNC ENSG00000130589 tier1 rs112233288 - 26 0 0.00 41 8 16.33 HGF 0 genome.wustl.edu 37 7 81331929 81331929 + Frame_Shift_Del DEL T T - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 7 81331929 81331929 T - DEL HGF ENST00000222390 human ensembl 74_37 -1 known frame_shift_del c.2155 p.I719fs 1.000 superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1 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 tier1 43 0 0.00 33 20 37.74 IL20RB 0 genome.wustl.edu 37 3 136699396 136699396 + Silent SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 3 136699396 136699396 G A SNP IL20RB ENST00000329582 human ensembl 74_37 +1 known silent c.177 p.A59 0.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL20RB HGNC ENSG00000174564 tier1 - - 81 0 0.00 62 28 31.11 ITFG2 0 genome.wustl.edu 37 12 2939789 2939789 + RNA SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 12 2939789 2939789 C T SNP ITFG2 ENST00000552005 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ITFG2 HGNC ENSG00000111203 tier1 - - 46 0 0.00 38 15 28.30 ITPRIP 0 genome.wustl.edu 37 10 106075576 106075576 + Missense_Mutation SNP C C A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 10 106075576 106075576 C A SNP ITPRIP ENST00000278071 human ensembl 74_37 -1 known missense c.234 p.Q78H 0.383 NULL NULL - no_errors ITPRIP HGNC ENSG00000148841 tier1 - - 55 0 0.00 83 9 9.78 KIAA0430 0 genome.wustl.edu 37 16 15716946 15716946 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 16 15716946 15716946 G T SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.2305 p.P769T 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 25 0 0.00 27 2 6.90 KIAA1731 0 genome.wustl.edu 37 11 93432873 93432873 + Missense_Mutation SNP C C A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 93432873 93432873 C A SNP KIAA1731 ENST00000411936 human ensembl 74_37 +1 known missense c.4795 p.Q1599K 0.101 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 20 0 0.00 27 3 10.00 KIF26A 0 genome.wustl.edu 37 14 104642925 104642925 + Frame_Shift_Del DEL C C - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 14 104642925 104642925 C 0 DEL KIF26A ENST00000423312 human ensembl 74_37 +1 known frame_shift_del c.3800 p.R1269fs 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 9 0 0.00 4 2 33.33 KREMEN1 0 genome.wustl.edu 37 22 29533461 29533461 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 22 29533461 29533461 C T SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known missense c.763 p.H255Y 1.000 pirsf_Kremen,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 tier1 - - 30 0 0.00 21 7 25.00 LOC100134259 0 genome.wustl.edu 37 2 47083042 47083042 + RNA DEL A A - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 2 47083042 47083042 A - DEL LOC100134259 ENST00000495449 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AC016722.2 Clone_based_vega_gene ENSG00000239332 tier1 8 0 0.00 4 7 63.64 LPHN1 0 genome.wustl.edu 37 19 14274196 14274196 + Silent SNP C C A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 19 14274196 14274196 C A SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known silent c.432 p.L144 0.999 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 37 0 0.00 36 3 7.69 LRP3 0 genome.wustl.edu 37 19 33697172 33697172 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 19 33697172 33697172 C T SNP LRP3 ENST00000253193 human ensembl 74_37 +1 known missense c.1496 p.T499M 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,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 LRP3 HGNC ENSG00000130881 tier1 rs149990905 - 66 0 0.00 48 18 27.27 LRRTM4 0 genome.wustl.edu 37 2 77746305 77746305 + Silent SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 2 77746305 77746305 G A SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known silent c.693 p.N231 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 54 0 0.00 52 13 20.00 LYPD1 0 genome.wustl.edu 37 2 133426048 133426048 + Frame_Shift_Del DEL A A - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 2 133426048 133426048 A - DEL LYPD1 ENST00000397463 human ensembl 74_37 -1 known frame_shift_del c.115 p.S39fs 1.000 NULL NULL - no_errors LYPD1 HGNC ENSG00000150551 tier1 43 0 0.00 30 2 6.25 MAML3 0 genome.wustl.edu 37 4 140810639 140810641 + In_Frame_Del DEL GCT GCT - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 4 140810639 140810641 GCT - DEL MAML3 ENST00000509479 human ensembl 74_37 -1 known in_frame_del c.1951_1949 p.Q650in_frame_del 0.196:0.001:0.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 tier1 88 0 0.00 98 19 16.24 MEGF8 0 genome.wustl.edu 37 19 42841022 42841022 + Silent SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 19 42841022 42841022 G T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known silent c.1308 p.L436 0.935 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 tier1 - - 92 0 0.00 90 14 13.46 MICAL1 0 genome.wustl.edu 37 6 109766171 109766171 + Nonsense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 6 109766171 109766171 C T SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known nonsense c.2966 p.W989* 0.987 pfam_DUF3585 pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 tier1 - - 26 0 0.00 11 10 47.62 MIXL1 0 genome.wustl.edu 37 1 226413489 226413489 + Silent SNP C C A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 226413489 226413489 C A SNP MIXL1 ENST00000366810 human ensembl 74_37 +1 known silent c.675 p.I225 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MIXL1 HGNC ENSG00000185155 tier1 - - 46 0 0.00 55 11 16.67 MROH2A 0 genome.wustl.edu 37 2 234731561 234731561 + Missense_Mutation SNP A A G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 2 234731561 234731561 A G SNP MROH2A ENST00000389758 human ensembl 74_37 +1 novel missense c.3901 p.R1301G 0.013 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2A HGNC ENSG00000185038 tier1 - - 38 0 0.00 23 8 25.81 MT-CO1 0 genome.wustl.edu 37 MT 6567 6567 + Missense_Mutation SNP C C G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a MT 6567 6567 C G SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.664 p.P222A NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 66 0 0.00 18 2 10.00 MT-TI 0 genome.wustl.edu 37 MT 4278 4278 + RNA SNP A A G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a MT 4278 4278 A G SNP MT-TI ENST00000387365 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TI HGNC ENSG00000210100 tier1 - - 32 0 0.00 10 2 16.67 MT-TI 0 genome.wustl.edu 37 MT 4317 4317 + RNA SNP A A G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a MT 4317 4317 A G SNP MT-TI ENST00000387365 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TI HGNC ENSG00000210100 tier1 rs121434465 - 40 0 0.00 12 2 14.29 MUC4 0 genome.wustl.edu 37 3 195512302 195512302 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 3 195512302 195512302 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.6149 p.P2050H 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 67 0 0.00 81 5 5.75 MYADML 0 genome.wustl.edu 37 2 33952237 33952237 + RNA SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 2 33952237 33952237 G T SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 0.979 - - - no_errors MYADML HGNC ENSG00000239649 tier1 - - 29 0 0.00 45 4 8.00 MYB 0 genome.wustl.edu 37 6 135511293 135511293 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 6 135511293 135511293 C T SNP MYB ENST00000341911 human ensembl 74_37 +1 known missense c.335 p.P112L 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 tier1 - - 19 0 0.00 25 6 19.35 NCOA3 0 genome.wustl.edu 37 20 46279842 46279842 + Silent SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 20 46279842 46279842 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.3768 p.Q1256 0.555 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,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 NCOA3 HGNC ENSG00000124151 56 0 0.00 72 4 5.13 NEB 0 genome.wustl.edu 37 2 152348986 152348986 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 2 152348986 152348986 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.24788 p.R8263Q 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 49 0 0.00 31 21 40.38 NELL2 0 genome.wustl.edu 37 12 45168614 45168614 + Nonsense_Mutation SNP C C A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 12 45168614 45168614 C A SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known nonsense c.1060 p.E354* 1.000 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 tier1 - - 38 0 0.00 45 9 16.67 NETO1 0 genome.wustl.edu 37 18 70417507 70417507 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 18 70417507 70417507 C T SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.1331 p.R444H 1.000 NULL 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 - no_errors NETO1 HGNC ENSG00000166342 tier1 - - 101 0 0.00 54 20 27.03 NFKB2 0 genome.wustl.edu 37 10 104157287 104157287 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 10 104157287 104157287 C T SNP NFKB2 ENST00000369966 human ensembl 74_37 +1 known missense c.506 p.A169V 0.995 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 tier1 - - 27 0 0.00 35 4 10.26 NOTCH4 0 genome.wustl.edu 37 6 32168713 32168713 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 6 32168713 32168713 C T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.4210 p.D1404N 1.000 pirsf_Notch,pfam_Notch_NODP_dom,prints_Notch_4 pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 - - 36 0 0.00 20 9 31.03 NTM 0 genome.wustl.edu 37 11 131530880 131530880 + RNA DEL A A - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 131530880 131530880 A - DEL NTM ENST00000477098 human ensembl 74_37 +1 putative rna NULL NULL 0.999 - - - no_errors NTM HGNC ENSG00000182667 tier1 20 0 0.00 17 7 29.17 NUDT13 0 genome.wustl.edu 37 10 74890583 74890583 + Silent SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 10 74890583 74890583 G A SNP NUDT13 ENST00000357321 human ensembl 74_37 +1 known silent c.981 p.L327 0.984 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,pfam_NADH_PPase-like_N,pfam_Znr_NADH_PPase,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT13 HGNC ENSG00000166321 tier1 - - 48 0 0.00 63 7 9.86 OLFML1 0 genome.wustl.edu 37 11 7507133 7507133 + Silent SNP T T C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 7507133 7507133 T C SNP OLFML1 ENST00000329293 human ensembl 74_37 +1 known silent c.27 p.S9 0.046 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML1 HGNC ENSG00000183801 tier1 - - 68 0 0.00 51 4 7.27 OPA3 0 genome.wustl.edu 37 19 46056917 46056917 + Missense_Mutation SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 19 46056917 46056917 G A SNP OPA3 ENST00000263275 human ensembl 74_37 -1 known missense c.395 p.A132V 0.821 pfam_OPA3-like pfam_OPA3-like - no_errors OPA3 HGNC ENSG00000125741 tier1 - - 14 0 0.00 18 6 25.00 OR1J2 0 genome.wustl.edu 37 9 125273718 125273718 + Missense_Mutation SNP G G C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 9 125273718 125273718 G C SNP OR1J2 ENST00000335302 human ensembl 74_37 +1 known missense c.638 p.C213S 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J2 HGNC ENSG00000197233 tier1 - - 136 0 0.00 85 15 15.00 OR2T11 0 genome.wustl.edu 37 1 248790424 248790424 + Silent SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 248790424 248790424 C T SNP OR2T11 ENST00000330803 human ensembl 74_37 -1 known silent c.6 p.T2 0.253 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T11 HGNC ENSG00000183130 tier1 - - 54 0 0.00 37 6 13.95 OR4L1 0 genome.wustl.edu 37 14 20528886 20528886 + Missense_Mutation SNP A A T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 14 20528886 20528886 A T SNP OR4L1 ENST00000315683 human ensembl 74_37 +1 known missense c.683 p.K228I 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4L1 HGNC ENSG00000176246 tier1 - - 93 0 0.00 53 29 35.37 PARD3 0 genome.wustl.edu 37 10 34666952 34666952 + Silent SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 10 34666952 34666952 G A SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known silent c.1482 p.L494 0.632 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 tier1 - - 12 0 0.00 22 10 30.30 PATL1 0 genome.wustl.edu 37 11 59406601 59406601 + Missense_Mutation SNP G G C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 59406601 59406601 G C SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known missense c.2211 p.I737M 1.000 NULL pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 tier1 - - 59 0 0.00 85 5 5.56 PCDHGA1 0 genome.wustl.edu 37 5 140711390 140711390 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 5 140711390 140711390 G T SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.1139 p.G380V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 tier1 - - 26 0 0.00 17 3 15.00 PCID2 0 genome.wustl.edu 37 13 113832491 113832491 + RNA SNP T T A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 13 113832491 113832491 T A SNP PCID2 ENST00000462653 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PCID2 HGNC ENSG00000126226 tier1 - - 65 0 0.00 39 4 9.30 PCM1 0 genome.wustl.edu 37 8 17817616 17817616 + Missense_Mutation SNP A A C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 8 17817616 17817616 A C SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known missense c.2134 p.N712H 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 tier1 - - 55 0 0.00 31 10 24.39 PCOLCE 0 genome.wustl.edu 37 7 100201742 100201742 + Frame_Shift_Del DEL C C - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 7 100201742 100201742 C - DEL PCOLCE ENST00000223061 human ensembl 74_37 +1 known frame_shift_del c.365 p.G124fs 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE HGNC ENSG00000106333 tier1 28 0 0.00 24 2 7.69 PHLDB1 0 genome.wustl.edu 37 11 118505783 118505783 + RNA DEL C C - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 118505783 118505783 C - DEL PHLDB1 ENST00000527500 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors PHLDB1 HGNC ENSG00000019144 tier1 14 0 0.00 12 2 14.29 PIGW 0 genome.wustl.edu 37 17 34893067 34893067 + Silent SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 17 34893067 34893067 G A SNP PIGW ENST00000328396 human ensembl 74_37 +1 known silent c.117 p.L39 0.084 pirsf_GWT1 pfam_GWT1,pirsf_GWT1 - no_errors PIGW HGNC ENSG00000184886 tier1 - - 62 0 0.00 61 15 19.74 PNPLA6 0 genome.wustl.edu 37 19 7606252 7606252 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 19 7606252 7606252 C T SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known missense c.964 p.R322W 0.997 superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 tier1 - - 43 0 0.00 16 12 42.86 PPAN-P2RY11 0 genome.wustl.edu 37 19 10224714 10224714 + Missense_Mutation SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 19 10224714 10224714 G A SNP PPAN-P2RY11 ENST00000393796 human ensembl 74_37 +1 known missense c.1685 p.R562Q 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM - no_errors PPAN-P2RY11 HGNC ENSG00000243207 tier1 - - 34 0 0.00 25 7 21.88 PSMD2 0 genome.wustl.edu 37 3 184019404 184019404 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 3 184019404 184019404 G T SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.437 p.G146V 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 61 0 0.00 69 4 5.48 PTPRQ 0 genome.wustl.edu 37 12 81013286 81013287 + Frame_Shift_Ins INS - - A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 12 81013286 81013287 - A INS PTPRQ ENST00000266688 human ensembl 74_37 +1 known frame_shift_ins c.5342_5343 p.N1783fs 0.997:0.981 NULL pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 tier1 35 0 0.00 29 10 25.64 QARS 0 genome.wustl.edu 37 3 49135444 49135444 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 3 49135444 49135444 G T SNP QARS ENST00000306125 human ensembl 74_37 -1 known missense c.2258 p.P753Q 1.000 superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Gln-tRNA-synth pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth - no_errors QARS HGNC ENSG00000172053 44 0 0.00 23 2 8.00 RAB3GAP2 0 genome.wustl.edu 37 1 220440885 220440885 + RNA SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 220440885 220440885 C T SNP RAB3GAP2 ENST00000462353 human ensembl 74_37 -1 known rna NULL NULL 0.975 - - - no_errors RAB3GAP2 HGNC ENSG00000118873 45 0 0.00 86 7 7.53 RASAL3 0 genome.wustl.edu 37 19 15563476 15563476 + Missense_Mutation SNP G G C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 19 15563476 15563476 G C SNP RASAL3 ENST00000343625 human ensembl 74_37 -1 known missense c.2821 p.R941G 0.002 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 tier1 - - 36 0 0.00 32 8 20.00 RNF5 0 genome.wustl.edu 37 6 32147865 32147865 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 6 32147865 32147865 C T SNP RNF5 ENST00000427134 human ensembl 74_37 +1 known missense c.407 p.T136I 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF5 HGNC ENSG00000204308 21 0 0.00 35 2 5.41 RPL11 0 genome.wustl.edu 37 1 24021225 24021225 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 24021225 24021225 G T SNP RPL11 ENST00000374550 human ensembl 74_37 +1 known missense c.340 p.D114Y 1.000 pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5 pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5 - no_errors RPL11 HGNC ENSG00000142676 tier1 - - 54 0 0.00 59 4 6.35 RRP15 0 genome.wustl.edu 37 1 218475671 218475671 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 218475671 218475671 G T SNP RRP15 ENST00000366932 human ensembl 74_37 +1 known missense c.175 p.D59Y 0.967 NULL pfam_DUF1665 - no_errors RRP15 HGNC ENSG00000067533 22 0 0.00 26 2 7.14 RYR1 0 genome.wustl.edu 37 19 38957020 38957020 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 19 38957020 38957020 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.3160 p.P1054S 1.000 pfam_Ryanodine_rcpt,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 13 0 0.00 17 2 10.53 RYR3 0 genome.wustl.edu 37 15 33955773 33955773 + Missense_Mutation SNP G G C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 15 33955773 33955773 G C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.5454 p.E1818D 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 42 0 0.00 26 11 29.73 SCG5 0 genome.wustl.edu 37 15 32983947 32983947 + Missense_Mutation SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 15 32983947 32983947 G A SNP SCG5 ENST00000300175 human ensembl 74_37 +1 known missense c.526 p.E176K 1.000 pfam_Secretogranin_V pfam_Secretogranin_V - no_errors SCG5 HGNC ENSG00000166922 tier1 - - 139 0 0.00 68 29 29.90 SCN3B 0 genome.wustl.edu 37 11 123524453 123524453 + Splice_Site SNP A A G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 123524453 123524453 A G SNP SCN3B ENST00000299333 human ensembl 74_37 -1 known splice_site c.55+2 e1+2 1.000 - - - no_errors SCN3B HGNC ENSG00000166257 tier1 - - 36 0 0.00 45 4 8.16 SEC23B 0 genome.wustl.edu 37 20 18541329 18541329 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 20 18541329 18541329 G T SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.2249 p.S750I 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 tier1 - - 70 0 0.00 51 4 7.27 SEMA6D 0 genome.wustl.edu 37 15 48055281 48055281 + Missense_Mutation SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 15 48055281 48055281 G A SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.727 p.E243K 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 tier1 - - 24 0 0.00 21 11 34.38 SENP7 0 genome.wustl.edu 37 3 101056352 101056352 + Splice_Site SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 3 101056352 101056352 C T SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known splice_site c.2480+1 e17+1 1.000 - - - no_errors SENP7 HGNC ENSG00000138468 tier1 - - 50 0 0.00 26 18 40.91 SLC17A6 0 genome.wustl.edu 37 11 22391642 22391642 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 22391642 22391642 G T SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.949 p.V317F 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 37 0 0.00 47 5 9.62 SLC17A9 0 genome.wustl.edu 37 20 61591862 61591862 + Missense_Mutation SNP A A C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 20 61591862 61591862 A C SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known missense c.404 p.Y135S 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 tier1 - - 31 0 0.00 33 12 26.67 SLITRK1 0 genome.wustl.edu 37 13 84454447 84454447 + Missense_Mutation SNP T T G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 13 84454447 84454447 T G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1196 p.K399T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 15 0 0.00 8 13 61.90 SLITRK1 0 genome.wustl.edu 37 13 84454489 84454489 + Missense_Mutation SNP T T G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 13 84454489 84454489 T G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1154 p.N385T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 12 0 0.00 6 6 50.00 SRGAP2-AS1 0 genome.wustl.edu 37 1 206553834 206553835 + RNA INS - - T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 206553834 206553835 0 T INS SRGAP2-AS1 ENST00000450872 human ensembl 74_37 -1 known rna NULL NULL 0.918:0.853 - - - no_errors SRGAP2-AS1 HGNC ENSG00000233501 37 0 0.00 51 7 12.07 SYDE1 0 genome.wustl.edu 37 19 15221361 15221361 + Missense_Mutation SNP C C A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 19 15221361 15221361 C A SNP SYDE1 ENST00000342784 human ensembl 74_37 +1 known missense c.1105 p.L369M 1.000 superfamily_C2_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 12 0 0.00 6 3 33.33 SYNE1 0 genome.wustl.edu 37 6 152652741 152652741 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 6 152652741 152652741 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.13079 p.A4360E 0.992 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 64 0 0.00 65 7 9.72 SZT2 0 genome.wustl.edu 37 1 43887775 43887775 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 43887775 43887775 G T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.1648 p.G550C 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 70 0 0.00 59 4 6.35 TCAM1P 0 genome.wustl.edu 37 17 61939715 61939715 + RNA SNP C C A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 17 61939715 61939715 C A SNP TCAM1P ENST00000478379 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors TCAM1P HGNC ENSG00000240280 58 0 0.00 43 4 8.33 TCAM1P 0 genome.wustl.edu 37 17 61939720 61939720 + RNA SNP G G A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 17 61939720 61939720 G A SNP TCAM1P ENST00000478379 human ensembl 74_37 +1 known rna NULL NULL 0.146 - - - no_errors TCAM1P HGNC ENSG00000240280 55 0 0.00 40 5 11.11 TENM4 0 genome.wustl.edu 37 11 78387198 78387198 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 78387198 78387198 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5495 p.R1832Q 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 43 0 0.00 37 18 32.73 THAP9-AS1 0 genome.wustl.edu 37 4 83821774 83821774 + RNA SNP T T G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 4 83821774 83821774 T G SNP THAP9-AS1 ENST00000504520 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors THAP9-AS1 HGNC ENSG00000251022 tier1 - - 30 0 0.00 22 7 24.14 TIMELESS 0 genome.wustl.edu 37 12 56827182 56827183 + Frame_Shift_Del DEL AC AC - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 12 56827182 56827183 AC - DEL TIMELESS ENST00000553532 human ensembl 74_37 -1 known frame_shift_del c.412_411 p.Y138fs 1.000:0.990 pfam_Timeless pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 tier1 35 0 0.00 32 2 5.88 TMEM132A 0 genome.wustl.edu 37 11 60694732 60694732 + Missense_Mutation SNP C C G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 11 60694732 60694732 C G SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.157 p.L53V 1.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 17 0 0.00 15 5 25.00 TMEM2 0 genome.wustl.edu 37 9 74300725 74300725 + Missense_Mutation SNP G G T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 9 74300725 74300725 G T SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.3889 p.Q1297K 0.755 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 tier1 - - 79 0 0.00 75 4 5.06 TP53 0 genome.wustl.edu 37 17 7577515 7577517 + In_Frame_Del DEL TGA TGA - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 TGA TGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 17 7577515 7577517 TGA - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_del c.766_764 p.I255in_frame_del 1.000:1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 216 0 0.00 119 85 41.67 TRAPPC8 0 genome.wustl.edu 37 18 29522914 29522914 + Splice_Site DEL C C - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 18 29522914 29522914 C - DEL TRAPPC8 ENST00000582539 human ensembl 74_37 -1 putative splice_site_del c.1+1 e0+1 0.006 - - - no_errors TRAPPC8 HGNC ENSG00000153339 tier1 42 0 0.00 22 3 12.00 UGGT1 0 genome.wustl.edu 37 2 128936114 128936114 + Silent SNP A A G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 2 128936114 128936114 A G SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known silent c.3786 p.A1262 0.965 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 tier1 - - 30 0 0.00 34 14 29.17 VPS13C 0 genome.wustl.edu 37 15 62244056 62244056 + Missense_Mutation SNP T T G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 15 62244056 62244056 T G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.4423 p.K1475Q 0.794 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 30 0 0.00 50 3 5.66 VSX2 0 genome.wustl.edu 37 14 74726375 74726375 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 14 74726375 74726375 C T SNP VSX2 ENST00000261980 human ensembl 74_37 +1 known missense c.650 p.A217V 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors VSX2 HGNC ENSG00000119614 tier1 - - 75 0 0.00 53 16 23.19 WNK1 0 genome.wustl.edu 37 12 994904 994904 + Missense_Mutation SNP A A G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 12 994904 994904 A G SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.6428 p.K2143R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 tier1 - - 38 0 0.00 37 17 31.48 ZCCHC11 0 genome.wustl.edu 37 1 52991245 52991245 + Silent SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 52991245 52991245 C T SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known silent c.708 p.S236 0.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 tier1 - - 46 0 0.00 21 13 38.24 ZFP64 0 genome.wustl.edu 37 20 50769375 50769375 + Missense_Mutation SNP C C G TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 20 50769375 50769375 C G SNP ZFP64 ENST00000216923 human ensembl 74_37 -1 known missense c.1356 p.E452D 0.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 tier1 - - 15 0 0.00 20 7 25.93 ZFP64 0 genome.wustl.edu 37 20 50769717 50769717 + Missense_Mutation SNP C C A TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 20 50769717 50769717 C A SNP ZFP64 ENST00000216923 human ensembl 74_37 -1 known missense c.1014 p.Q338H 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 tier1 - - 50 0 0.00 53 12 18.46 ZMYM1 0 genome.wustl.edu 37 1 35578791 35578791 + Nonsense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 35578791 35578791 C T SNP ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel nonsense c.1360 p.R454* 0.001 NULL pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 26 0 0.00 31 3 8.82 ZNF271 0 genome.wustl.edu 37 18 32889230 32889230 + RNA SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 18 32889230 32889230 C T SNP ZNF271 ENST00000399070 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ZNF271 HGNC ENSG00000257267 tier1 - - 29 0 0.00 34 6 15.00 ZNF418 0 genome.wustl.edu 37 19 58437844 58437844 + Missense_Mutation SNP T T C TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 19 58437844 58437844 T C SNP ZNF418 ENST00000396147 human ensembl 74_37 -1 known missense c.1705 p.R569G 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF418 HGNC ENSG00000196724 55 0 0.00 73 4 5.19 ZNF678 0 genome.wustl.edu 37 1 227843162 227843162 + Missense_Mutation SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 1 227843162 227843162 C T SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known missense c.1376 p.P459L 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF678 HGNC ENSG00000181450 21 0 0.00 32 3 8.57 ZNF704 0 genome.wustl.edu 37 8 81550825 81550825 + RNA DEL A A - TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 8 81550825 81550825 A - DEL ZNF704 ENST00000517379 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ZNF704 HGNC ENSG00000164684 tier1 18 0 0.00 23 6 20.69 ZNF778 0 genome.wustl.edu 37 16 89294491 89294491 + Missense_Mutation SNP A A T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 16 89294491 89294491 A T SNP ZNF778 ENST00000433976 human ensembl 74_37 +1 known missense c.1711 p.T571S 0.230 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF778 HGNC ENSG00000170100 tier1 - - 41 0 0.00 58 5 7.94 ZNF815P 0 genome.wustl.edu 37 7 5886801 5886801 + RNA SNP C C T TCGA-L5-A4OF-01A-11D-A27G-09 TCGA-L5-A4OF-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f932dd2c-eac3-40b3-9c43-387b8965d65d 5c706022-8e43-463a-b161-f6687b4ba88a 7 5886801 5886801 C T SNP ZNF815P ENST00000421890 human ensembl 74_37 +1 known rna NULL NULL 0.955 - - - no_errors ZNF815P HGNC ENSG00000235944 tier1 - - 67 0 0.00 86 15 14.85