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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All AADAC 0 genome.wustl.edu 37 3 151545656 151545656 + Missense_Mutation SNP A A G TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 3 151545656 151545656 A G SNP AADAC ENST00000232892 human ensembl 69_37n +1 known missense c.896 p.N299S 0.000 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase - no_errors AADAC HGNC ENSG00000114771 153 0 0.00 149 35 19.02 - - - ABCG1 0 genome.wustl.edu 37 21 43645875 43645875 + Missense_Mutation SNP C C T TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 21 43645875 43645875 C T SNP ABCG1 ENST00000361802 human ensembl 69_37n +1 known missense c.137 p.T46M 0.946 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 74 0 0.00 36 6 14.29 - - - ADAM29 0 genome.wustl.edu 37 4 175896776 175896776 + Missense_Mutation SNP G G T TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 4 175896776 175896776 G T SNP ADAM29 ENST00000359240 human ensembl 69_37n +1 known missense c.100 p.V34L 0.994 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 88 0 0.00 60 44 42.31 - - - AMDHD1 0 genome.wustl.edu 37 12 96360235 96360235 + Missense_Mutation SNP G G C TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 12 96360235 96360235 G C SNP AMDHD1 ENST00000266736 human ensembl 69_37n +1 known missense c.1142 p.G381A 1.000 pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI - no_errors AMDHD1 HGNC ENSG00000139344 138 0 0.00 157 24 13.19 - - - CHSY3 0 genome.wustl.edu 37 5 129243980 129243980 + Missense_Mutation SNP C C A TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 5 129243980 129243980 C A SNP CHSY3 ENST00000305031 human ensembl 69_37n +1 known missense c.1013 p.T338K 1.000 pfam_Chond_GalNAc,pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 43 0 0.00 40 18 31.03 - - - CNTN1 0 genome.wustl.edu 37 12 41352942 41352942 + Silent SNP C C T TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 12 41352942 41352942 C T SNP CNTN1 ENST00000347616 human ensembl 69_37n +1 known silent c.1710 p.I570 0.993 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC ENSG00000018236 136 0 0.00 210 30 12.50 - - - CTSA 0 genome.wustl.edu 37 20 44521044 44521044 + Missense_Mutation SNP A A T TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 20 44521044 44521044 A T SNP CTSA ENST00000372484 human ensembl 69_37n +1 known missense c.419 p.N140I 0.987 pfam_Peptidase_S10,prints_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CTSA HGNC ENSG00000064601 91 0 0.00 69 9 11.54 - - - DCAF12L1 0 genome.wustl.edu 37 X 125685532 125685532 + Missense_Mutation SNP G G A TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d X 125685532 125685532 G A SNP DCAF12L1 ENST00000371126 human ensembl 69_37n -1 known missense c.1060 p.R354W 0.945 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 DCAF12L1 HGNC ENSG00000198889 35 0 0.00 36 18 33.33 - - - DCT 0 genome.wustl.edu 37 13 95118847 95118847 + Missense_Mutation SNP G G A TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 13 95118847 95118847 G A SNP DCT ENST00000446125 human ensembl 69_37n -1 known missense c.661 p.R221W 0.992 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 156 0 0.00 72 23 24.21 - - - DMRT3 0 genome.wustl.edu 37 9 990144 990144 + Missense_Mutation SNP T T A TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 9 990144 990144 T A SNP DMRT3 ENST00000190165 human ensembl 69_37n +1 known missense c.558 p.S186R 0.862 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT3 HGNC ENSG00000064218 68 0 0.00 35 15 30.00 - - - DOCK7 0 genome.wustl.edu 37 1 63084424 63084424 + Missense_Mutation SNP G G C TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 1 63084424 63084424 G C SNP DOCK7 ENST00000251157 human ensembl 69_37n -1 known missense c.1635 p.I545M 1.000 NULL pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 149 0 0.00 101 68 40.24 - - - EIF2B3 0 genome.wustl.edu 37 1 45363093 45363093 + Missense_Mutation SNP G G A TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 1 45363093 45363093 G A SNP EIF2B3 ENST00000360403 human ensembl 69_37n -1 known missense c.590 p.T197M 1.000 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 52 0 0.00 38 9 18.75 - - - FAM149A 0 genome.wustl.edu 37 4 187074851 187074851 + Missense_Mutation SNP C C A TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 4 187074851 187074851 C A SNP FAM149A ENST00000356371 human ensembl 69_37n +1 known missense c.1012 p.Q338K 0.993 pfam_DUF3719 pfam_DUF3719 - no_errors FAM149A HGNC ENSG00000109794 212 0 0.00 127 23 15.33 - - - FMNL2 0 genome.wustl.edu 37 2 153504368 153504368 + Silent SNP C C T TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 2 153504368 153504368 C T SNP FMNL2 ENST00000288670 human ensembl 69_37n +1 known silent c.3228 p.R1076 1.000 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 210 0 0.00 118 21 15.00 - - - FOXA1 0 genome.wustl.edu 37 14 38061410 38061410 + Frame_Shift_Del DEL C C - TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 14 38061410 38061410 C - DEL FOXA1 ENST00000250448 human ensembl 69_37n -1 known frame_shift_del c.579 p.S194fs 0.998 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 31 0 0.00 12 6 33.33 - - - GBP4 0 genome.wustl.edu 37 1 89651075 89651075 + Missense_Mutation SNP T T G TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 1 89651075 89651075 T G SNP GBP4 ENST00000355754 human ensembl 69_37n -1 known missense c.1785 p.E595D 0.000 superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP4 HGNC ENSG00000162654 229 0 0.00 153 35 18.62 - - - GRIK1 0 genome.wustl.edu 37 21 31023551 31023551 + Missense_Mutation SNP G G A TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 21 31023551 31023551 G A SNP GRIK1 ENST00000535441 human ensembl 69_37n -1 known missense c.841 p.R281W 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 68 0 0.00 35 8 18.60 - - - HEG1 0 genome.wustl.edu 37 3 124746052 124746052 + Missense_Mutation SNP A A G TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 3 124746052 124746052 A G SNP HEG1 ENST00000311127 human ensembl 69_37n -1 known missense c.910 p.S304P 0.000 NULL pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 69 0 0.00 24 36 60.00 - - - IGSF1 0 genome.wustl.edu 37 X 130409529 130409529 + Missense_Mutation SNP T T C TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d X 130409529 130409529 T C SNP IGSF1 ENST00000370903 human ensembl 69_37n -1 known missense c.3122 p.Y1041C 1.000 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 345 0 0.00 227 43 15.87 - - - IL10RA 0 genome.wustl.edu 37 11 117864082 117864082 + Missense_Mutation SNP G G A TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 11 117864082 117864082 G A SNP IL10RA ENST00000227752 human ensembl 69_37n +1 known missense c.494 p.R165Q 0.978 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL10RA HGNC ENSG00000110324 52 0 0.00 17 19 52.78 - - - MAP3K1 0 genome.wustl.edu 37 5 56160679 56160680 + Frame_Shift_Ins INS - - A TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 5 56160679 56160680 - A INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.953_954 p.L319fs 0.965:0.937 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 99 0 0.00 55 48 46.60 - - - MAP3K1 0 genome.wustl.edu 37 5 56181765 56181765 + Missense_Mutation SNP C C G TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 5 56181765 56181765 C G SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel missense c.3989 p.S1330W 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 136 0 0.00 101 48 32.21 - - - MARC1 0 genome.wustl.edu 37 1 220986672 220986672 + Nonsense_Mutation SNP G G A TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 1 220986672 220986672 G A SNP MARC1 ENST00000407981 human ensembl 69_37n +1 putative nonsense c.702 p.W234* 0.433 pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom pfam_MoCF_Sase_C,pfam_MOSC_N,superfamily_Pyrv_Knase-like_insert_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MARC1 HGNC ENSG00000186205 257 0 0.00 148 49 24.87 - - - MUC16 0 genome.wustl.edu 37 19 9066848 9066848 + Silent SNP C C T TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 19 9066848 9066848 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.20598 p.E6866 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 447 1 0.22 296 108 26.73 - - - OR4A5 0 genome.wustl.edu 37 11 51412164 51412164 + Missense_Mutation SNP T T G TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 11 51412164 51412164 T G SNP OR4A5 ENST00000319760 human ensembl 69_37n -1 known missense c.232 p.K78Q 0.627 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 200 1 0.50 278 57 16.96 - - - PCDHA5 0 genome.wustl.edu 37 5 140201481 140201481 + Missense_Mutation SNP G G A TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 5 140201481 140201481 G A SNP PCDHA5 ENST00000529859 human ensembl 69_37n +1 known missense c.121 p.G41R 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 39 0 0.00 37 7 15.91 - - - PCDHB7 0 genome.wustl.edu 37 5 140554089 140554089 + Missense_Mutation SNP C C T TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 5 140554089 140554089 C T SNP PCDHB7 ENST00000231137 human ensembl 69_37n +1 known missense c.1673 p.S558L 0.993 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 70 0 0.00 64 12 15.79 - - - PKHD1 0 genome.wustl.edu 37 6 51524257 51524257 + Missense_Mutation SNP C C T TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 6 51524257 51524257 C T SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known missense c.10667 p.R3556H 0.001 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 164 0 0.00 156 30 16.13 - - - PRKG2 0 genome.wustl.edu 37 4 82056310 82056310 + Missense_Mutation SNP A A G TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 4 82056310 82056310 A G SNP PRKG2 ENST00000264399 human ensembl 69_37n -1 known missense c.1775 p.L592S 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 185 1 0.54 177 48 21.33 - - - PTPN13 0 genome.wustl.edu 37 4 87607896 87607897 + Frame_Shift_Ins INS - - G TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 4 87607896 87607897 - G INS PTPN13 ENST00000436978 human ensembl 69_37n +1 known frame_shift_ins c.328_329 p.A112fs 1.000:1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PAZ,smart_KIND pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 21 0 0.00 16 2 11.11 - - - PTPRH 0 genome.wustl.edu 37 19 55693164 55693164 + Silent SNP G G A TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 19 55693164 55693164 G A SNP PTPRH ENST00000376350 human ensembl 69_37n -1 known silent c.3306 p.Y1102 0.433 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 110 0 0.00 42 10 19.23 - - - SIN3B 0 genome.wustl.edu 37 19 16976371 16976372 + Frame_Shift_Ins INS - - TT TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 19 16976371 16976372 - TT INS SIN3B ENST00000379803 human ensembl 69_37n +1 known frame_shift_ins c.1630_1631 p.Y545fs 0.991:1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 24 0 0.00 11 5 31.25 - - - SIPA1L3 0 genome.wustl.edu 37 19 38631959 38631959 + Silent SNP A A G TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 19 38631959 38631959 A G SNP SIPA1L3 ENST00000222345 human ensembl 69_37n +1 known silent c.3279 p.L1093 0.037 NULL pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC ENSG00000105738 107 0 0.00 65 15 17.86 - - - STRC 0 genome.wustl.edu 37 15 43893206 43893206 + Missense_Mutation SNP T T C TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 15 43893206 43893206 T C SNP STRC ENST00000450892 human ensembl 69_37n -1 known missense c.4708 p.I1570V 0.047 NULL NULL - no_errors STRC HGNC ENSG00000242866 123 0 0.00 50 12 19.35 - - - TNFAIP3 0 genome.wustl.edu 37 6 138200082 138200082 + Silent SNP C C T TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 6 138200082 138200082 C T SNP TNFAIP3 ENST00000237289 human ensembl 69_37n +1 known silent c.1500 p.N500 0.044 pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20 pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 54 0 0.00 35 9 20.45 - - - UBR4 0 genome.wustl.edu 37 1 19504222 19504222 + Missense_Mutation SNP C C T TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 1 19504222 19504222 C T SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known missense c.2370 p.M790I 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 221 0 0.00 149 23 13.37 - - - VPS13C 0 genome.wustl.edu 37 15 62161736 62161736 + Missense_Mutation SNP C C T TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 15 62161736 62161736 C T SNP VPS13C ENST00000261517 human ensembl 69_37n -1 known missense c.10711 p.V3571I 0.996 pfam_Autophagy-rel_C pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 184 0 0.00 225 54 19.35 - - - ZBTB22 0 genome.wustl.edu 37 6 33284663 33284663 + Frame_Shift_Del DEL C C - TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 6 33284663 33284663 C - DEL ZBTB22 ENST00000418724 human ensembl 69_37n -1 known frame_shift_del c.31 p.A11fs 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 25 0 0.00 11 6 33.33 - - - ZNF559 0 genome.wustl.edu 37 19 9453596 9453596 + Missense_Mutation SNP A A C TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 19 9453596 9453596 A C SNP ZNF559 ENST00000393883 human ensembl 69_37n +1 known missense c.1469 p.E490A 0.006 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 ZNF559 HGNC ENSG00000188321 168 0 0.00 150 57 27.54 - - - ZNF592 0 genome.wustl.edu 37 15 85345429 85345429 + Silent SNP G G A TCGA-A2-A0EU-01A-22W-A071-09 TCGA-A2-A0EU-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx de30da8f-903f-428e-a63d-59625fc858a9 1583a7c5-c835-44fa-918a-1448abf6533d 15 85345429 85345429 G A SNP ZNF592 ENST00000299927 human ensembl 69_37n +1 known silent c.3609 p.E1203 0.253 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 37 0 0.00 16 9 36.00 - - -