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 AHDC1 27245 genome.wustl.edu 37 1 27861171 27861172 + RNA INS - - T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 1 27861171 27861172 - T INS AHDC1 ENST00000482400 human ensembl 70_37 -1 known rna NULL NULL 0.974:0.982 - - - no_errors AHDC1 HGNC AMZ1 155185 genome.wustl.edu 37 7 2740156 2740156 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 7 2740156 2740156 C T SNP AMZ1 ENST00000312371 human ensembl 70_37 +1 known missense c.71 p.T24I 0.048 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ANKHD1 54882 genome.wustl.edu 37 5 139838931 139838931 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 5 139838931 139838931 C T SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known silent c.1663 p.L555 0.985 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ARHGEF33 100271715 genome.wustl.edu 37 2 39185251 39185251 + Missense_Mutation SNP G G T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 2 39185251 39185251 G T SNP ARHGEF33 ENST00000398800 human ensembl 70_37 +1 known missense c.1447 p.G483C 0.999 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_Prefoldin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF33 HGNC ASPG 374569 genome.wustl.edu 37 14 104559921 104559921 + Nonsense_Mutation SNP C C A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 14 104559921 104559921 C A SNP ASPG ENST00000455920 human ensembl 70_37 +1 known nonsense c.285 p.C95* 0.013 pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,tigrfam_AsnASEI - no_errors ASPG HGNC B3GALT4 8705 genome.wustl.edu 37 6 33245262 33245262 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 6 33245262 33245262 C T SNP B3GALT4 ENST00000451237 human ensembl 70_37 +1 known silent c.66 p.L22 0.018 NULL pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC B4GALT7 11285 genome.wustl.edu 37 5 177031510 177031510 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 5 177031510 177031510 C T SNP B4GALT7 ENST00000029410 human ensembl 70_37 +1 known silent c.381 p.H127 1.000 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT7 HGNC CA7 766 genome.wustl.edu 37 16 66881082 66881082 + Missense_Mutation SNP A A G TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 16 66881082 66881082 A G SNP CA7 ENST00000338437 human ensembl 70_37 +1 known missense c.190 p.N64D 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA7 HGNC CASK 8573 genome.wustl.edu 37 X 41481887 41481887 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 X 41481887 41481887 C T SNP CASK ENST00000378163 human ensembl 70_37 -1 known missense c.1016 p.G339E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC CBFB 865 genome.wustl.edu 37 16 67100636 67100636 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 16 67100636 67100636 G A SNP CBFB ENST00000290858 human ensembl 70_37 +1 known missense c.334 p.G112S 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC CBLC 23624 genome.wustl.edu 37 19 45295767 45295767 + Nonsense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 19 45295767 45295767 G A SNP CBLC ENST00000270279 human ensembl 70_37 +1 known nonsense c.1133 p.W378* 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC CD99 4267 genome.wustl.edu 37 X 2651449 2651449 + RNA SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 X 2651449 2651449 G A SNP CD99 ENST00000482405 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CD99 HGNC CDH7 1005 genome.wustl.edu 37 18 63511149 63511149 + Silent SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 18 63511149 63511149 G A SNP CDH7 ENST00000323011 human ensembl 70_37 +1 known silent c.1083 p.T361 0.570 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC CTBP2 1488 genome.wustl.edu 37 10 126714653 126714653 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 10 126714653 126714653 G A SNP CTBP2 ENST00000309035 human ensembl 70_37 -1 known missense c.1676 p.P559L 1.000 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC DISP2 85455 genome.wustl.edu 37 15 40660964 40660964 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 15 40660964 40660964 C T SNP DISP2 ENST00000267889 human ensembl 70_37 +1 known missense c.2651 p.P884L 0.683 NULL pfscan_SSD - no_errors DISP2 HGNC DNAH3 55567 genome.wustl.edu 37 16 20974746 20974746 + Missense_Mutation SNP G G T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 16 20974746 20974746 G T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.10460 p.A3487E 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNAH7 56171 genome.wustl.edu 37 2 196753575 196753575 + Missense_Mutation SNP T T A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 2 196753575 196753575 T A SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.5177 p.Q1726L 0.996 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102514296 102514296 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 14 102514296 102514296 C T SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known silent c.13149 p.T4383 0.087 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC EIF2B3 8891 genome.wustl.edu 37 1 45424469 45424469 + RNA SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 1 45424469 45424469 C T SNP EIF2B3 ENST00000487532 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EIF2B3 HGNC ENSG00000221259 0 genome.wustl.edu 37 12 111511845 111511846 + RNA INS - - A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 12 111511845 111511846 - A INS ENSG00000221259 ENST00000408332 human ensembl 70_37 +1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC002978.1 Clone_based_ensembl_gene ENSG00000234864 0 genome.wustl.edu 37 10 43201866 43201867 + RNA INS - - T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 10 43201866 43201867 - T INS ENSG00000234864 ENST00000439913 human ensembl 70_37 +1 known rna NULL NULL 0.844:0.852 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000248666 0 genome.wustl.edu 37 9 130457376 130457376 + RNA SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 9 130457376 130457376 G A SNP ENSG00000248666 ENST00000335223 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors RP11-56D16.2 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102294753 102294753 + RNA SNP T T C TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 15 102294753 102294753 T C SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene EPHA2 1969 genome.wustl.edu 37 1 16464648 16464648 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 1 16464648 16464648 C T SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.1012 p.V338M 0.166 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC EVX2 344191 genome.wustl.edu 37 2 176948343 176948343 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 2 176948343 176948343 C T SNP EVX2 ENST00000308618 human ensembl 70_37 -1 known silent c.162 p.P54 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC EYA4 2070 genome.wustl.edu 37 6 133777755 133777755 + Silent SNP A A G TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 6 133777755 133777755 A G SNP EYA4 ENST00000355167 human ensembl 70_37 +1 known silent c.339 p.G113 1.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC FAM111A 63901 genome.wustl.edu 37 11 58920144 58920144 + Missense_Mutation SNP G G T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 11 58920144 58920144 G T SNP FAM111A ENST00000361723 human ensembl 70_37 +1 known missense c.1003 p.G335W 0.793 superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111A HGNC FAM65B 9750 genome.wustl.edu 37 6 25042141 25042141 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 6 25042141 25042141 G A SNP FAM65B ENST00000510784 human ensembl 70_37 -1 known missense c.14 p.S5L 0.467 NULL NULL - no_errors FAM65B HGNC FZD2 2535 genome.wustl.edu 37 17 42636381 42636381 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 17 42636381 42636381 G A SNP FZD2 ENST00000315323 human ensembl 70_37 +1 known missense c.1325 p.R442H 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC GDF7 151449 genome.wustl.edu 37 2 20870986 20870986 + Missense_Mutation SNP C C A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 2 20870986 20870986 C A SNP GDF7 ENST00000272224 human ensembl 70_37 +1 known missense c.1154 p.P385H 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF7 HGNC HERC4 26091 genome.wustl.edu 37 10 69716602 69716603 + RNA INS - - A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 10 69716602 69716603 - A INS HERC4 ENST00000480158 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HERC4 HGNC HIST1H2BD 3017 genome.wustl.edu 37 6 26158407 26158407 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 6 26158407 26158407 C T SNP HIST1H2BD ENST00000289316 human ensembl 70_37 +1 known missense c.10 p.P4S 0.984 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BD HGNC HSP90AA1 3320 genome.wustl.edu 37 14 102552169 102552169 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 14 102552169 102552169 G A SNP HSP90AA1 ENST00000334701 human ensembl 70_37 -1 known missense c.821 p.T274I 1.000 pirsf_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC IPO5 3843 genome.wustl.edu 37 13 98652882 98652882 + Missense_Mutation SNP T T C TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 13 98652882 98652882 T C SNP IPO5 ENST00000261574 human ensembl 70_37 +1 known missense c.1145 p.M382T 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC IQCJ-SCHIP1 100505385 genome.wustl.edu 37 3 159482297 159482297 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 3 159482297 159482297 C T SNP IQCJ-SCHIP1 ENST00000485419 human ensembl 70_37 +1 known silent c.357 p.A119 1.000 NULL pfam_SCHIP_1 - no_errors IQCJ-SCHIP1 HGNC ITGA9 3680 genome.wustl.edu 37 3 37792021 37792021 + Silent SNP A A T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 3 37792021 37792021 A T SNP ITGA9 ENST00000264741 human ensembl 70_37 +1 known silent c.2502 p.S834 0.034 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ITGB4 3691 genome.wustl.edu 37 17 73751271 73751271 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 17 73751271 73751271 C T SNP ITGB4 ENST00000339591 human ensembl 70_37 +1 known missense c.4484 p.P1495L 0.995 pirsf_Integrin_bsu-4 pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC KIAA1804 84451 genome.wustl.edu 37 1 233482309 233482309 + Silent SNP C C A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 1 233482309 233482309 C A SNP KIAA1804 ENST00000366624 human ensembl 70_37 +1 known silent c.927 p.A309 0.991 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors MLK4 Uniprot_genename KIF25-AS1 100505879 genome.wustl.edu 37 6 168396931 168396931 + RNA SNP A A T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 6 168396931 168396931 A T SNP KIF25-AS1 ENST00000414364 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KIF25-AS1 HGNC KRTAP20-1 337975 genome.wustl.edu 37 21 31988847 31988847 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 21 31988847 31988847 G A SNP KRTAP20-1 ENST00000334664 human ensembl 70_37 +1 known missense c.74 p.R25H 0.006 pfam_KRTAP pfam_KRTAP - no_errors KRTAP20-1 HGNC LATS1 9113 genome.wustl.edu 37 6 149997697 149997697 + Nonsense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 6 149997697 149997697 G A SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known nonsense c.2770 p.R924* 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,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC LDLRAD3 143458 genome.wustl.edu 37 11 36057766 36057766 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 11 36057766 36057766 G A SNP LDLRAD3 ENST00000315571 human ensembl 70_37 +1 known missense c.160 p.D54N 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD3 HGNC LHX2 9355 genome.wustl.edu 37 9 126795395 126795396 + RNA INS - - A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 9 126795395 126795396 - A INS LHX2 ENST00000488674 human ensembl 70_37 +1 known rna NULL NULL 0.992:0.989 - - - no_errors LHX2 HGNC LOC642423 642423 genome.wustl.edu 37 15 84868725 84868726 + RNA DEL GG GG - TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 15 84868725 84868726 GG - DEL LOC642423 ENST00000316967 human ensembl 70_37 -1 known rna NULL NULL 0.187:0.139 - - - no_errors AC103965.1 Clone_based_vega_gene LRRC55 219527 genome.wustl.edu 37 11 56949718 56949718 + Missense_Mutation SNP C C A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 11 56949718 56949718 C A SNP LRRC55 ENST00000497933 human ensembl 70_37 +1 known missense c.351 p.H117Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC55 HGNC LRRC55 219527 genome.wustl.edu 37 11 56949719 56949719 + Missense_Mutation SNP A A G TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 11 56949719 56949719 A G SNP LRRC55 ENST00000497933 human ensembl 70_37 +1 known missense c.352 p.N118D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC55 HGNC LINC00948 100507027 genome.wustl.edu 37 10 61496870 61496870 + RNA SNP A A G TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 10 61496870 61496870 A G SNP M1 ENST00000414264 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors RP11-59J5.1 Clone_based_vega_gene MEF2A 4205 genome.wustl.edu 37 15 100211754 100211754 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 15 100211754 100211754 C T SNP MEF2A ENST00000354410 human ensembl 70_37 +1 known silent c.288 p.C96 1.000 pfam_HJURP_C pfam_HJURP_C,pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2A HGNC MTMR3 8897 genome.wustl.edu 37 22 30415898 30415898 + Silent SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 22 30415898 30415898 G A SNP MTMR3 ENST00000401950 human ensembl 70_37 +1 known silent c.2250 p.L750 0.001 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC MUC6 4588 genome.wustl.edu 37 11 1017591 1017591 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 11 1017591 1017591 C T SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known missense c.5210 p.R1737Q 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC MUC7 4589 genome.wustl.edu 37 4 71346991 71346991 + Missense_Mutation SNP C C A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 4 71346991 71346991 C A SNP MUC7 ENST00000304887 human ensembl 70_37 +1 known missense c.530 p.P177Q 0.009 NULL NULL - no_errors MUC7 HGNC OR8B4 283162 genome.wustl.edu 37 11 124293926 124293926 + Missense_Mutation SNP A A G TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 11 124293926 124293926 A G SNP OR8B4 ENST00000356130 human ensembl 70_37 -1 putative missense c.842 p.V281A 0.478 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B4 HGNC PIR 8544 genome.wustl.edu 37 X 15444055 15444055 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 X 15444055 15444055 G A SNP PIR ENST00000380420 human ensembl 70_37 -1 known missense c.539 p.A180V 1.000 pfam_Pirin_C_dom,superfamily_RmlC_Cupin,pirsf_Pirin pfam_Pirin_C_dom,pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin - no_errors PIR HGNC PLCD4 84812 genome.wustl.edu 37 2 219499242 219499242 + Silent SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 2 219499242 219499242 G A SNP PLCD4 ENST00000417849 human ensembl 70_37 +1 known silent c.1785 p.Q595 1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC PPM1F 9647 genome.wustl.edu 37 22 22280022 22280022 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 22 22280022 22280022 C T SNP PPM1F ENST00000263212 human ensembl 70_37 -1 known missense c.905 p.R302H 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1F HGNC PPP1R13L 10848 genome.wustl.edu 37 19 45895174 45895174 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 19 45895174 45895174 C T SNP PPP1R13L ENST00000360957 human ensembl 70_37 -1 known silent c.1779 p.P593 0.000 superfamily_SH3_domain pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC PRKG2 5593 genome.wustl.edu 37 4 82126091 82126091 + Missense_Mutation SNP C C A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 4 82126091 82126091 C A SNP PRKG2 ENST00000264399 human ensembl 70_37 -1 known missense c.111 p.L37F 1.000 pirsf_cGMP-dependent_protein_kinase 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 QTRTD1 79691 genome.wustl.edu 37 3 113798754 113798754 + Missense_Mutation SNP C C A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 3 113798754 113798754 C A SNP QTRTD1 ENST00000281273 human ensembl 70_37 +1 known missense c.748 p.L250I 1.000 pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_tRNA_ribo_trans - no_errors QTRTD1 HGNC RBM25 58517 genome.wustl.edu 37 14 73578379 73578379 + Missense_Mutation SNP G G C TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 14 73578379 73578379 G C SNP RBM25 ENST00000261973 human ensembl 70_37 +1 known missense c.2161 p.D721H 1.000 NULL pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom - no_errors RBM25 HGNC SATL1 340562 genome.wustl.edu 37 X 84362391 84362391 + Silent SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 X 84362391 84362391 G A SNP SATL1 ENST00000509231 human ensembl 70_37 -1 known silent c.1584 p.Y528 0.003 superfamily_Acyl_CoA_acyltransferase superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC SECISBP2 79048 genome.wustl.edu 37 9 91964815 91964815 + Missense_Mutation SNP C C G TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 9 91964815 91964815 C G SNP SECISBP2 ENST00000375807 human ensembl 70_37 +1 known missense c.1863 p.F621L 0.429 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC SLC22A6 9356 genome.wustl.edu 37 11 62747277 62747277 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 11 62747277 62747277 C T SNP SLC22A6 ENST00000377871 human ensembl 70_37 -1 known missense c.1181 p.R394H 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC SLC9A1 6548 genome.wustl.edu 37 1 27440643 27440643 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 1 27440643 27440643 G A SNP SLC9A1 ENST00000263980 human ensembl 70_37 -1 known missense c.487 p.L163F 1.000 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC SLCO6A1 133482 genome.wustl.edu 37 5 101834431 101834431 + Missense_Mutation SNP T T C TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 5 101834431 101834431 T C SNP SLCO6A1 ENST00000379807 human ensembl 70_37 -1 known missense c.118 p.K40E 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC SRSF1 6426 genome.wustl.edu 37 17 56083298 56083298 + Missense_Mutation SNP T T C TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 17 56083298 56083298 T C SNP SRSF1 ENST00000258962 human ensembl 70_37 -1 known missense c.416 p.D139G 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF1 HGNC SRSF5 6430 genome.wustl.edu 37 14 70235906 70235906 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 14 70235906 70235906 C T SNP SRSF5 ENST00000451983 human ensembl 70_37 +1 known missense c.304 p.P102S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ST6GALNAC3 256435 genome.wustl.edu 37 1 76779548 76779548 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 1 76779548 76779548 G A SNP ST6GALNAC3 ENST00000328299 human ensembl 70_37 +1 known missense c.77 p.R26H 1.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC TLR2 7097 genome.wustl.edu 37 4 154624095 154624095 + Silent SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 4 154624095 154624095 G A SNP TLR2 ENST00000260010 human ensembl 70_37 +1 known silent c.36 p.G12 0.002 pirsf_Toll-like_receptor pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1 - no_errors TLR2 HGNC TRIM16L 147166 genome.wustl.edu 37 17 18638256 18638256 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 17 18638256 18638256 G A SNP TRIM16L ENST00000395902 human ensembl 70_37 +1 known missense c.692 p.R231H 1.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIM16L HGNC TRIO 7204 genome.wustl.edu 37 5 14461388 14461389 + Frame_Shift_Ins INS - - CGGC TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 5 14461388 14461389 - CGGC INS TRIO ENST00000344204 human ensembl 70_37 +1 known frame_shift_ins c.5464_5465 p.T1824fs 1.000:1.000 NULL pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC TTC33 23548 genome.wustl.edu 37 5 40728489 40728489 + Silent SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 5 40728489 40728489 C T SNP TTC33 ENST00000337702 human ensembl 70_37 -1 known silent c.393 p.Q131 0.816 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC33 HGNC UTRN 7402 genome.wustl.edu 37 6 145148812 145148812 + Frame_Shift_Del DEL G G - TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 6 145148812 145148812 G - DEL UTRN ENST00000367545 human ensembl 70_37 +1 known frame_shift_del c.9599 p.R3200fs 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC VWA3B 200403 genome.wustl.edu 37 2 98779316 98779316 + Missense_Mutation SNP G G A TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 2 98779316 98779316 G A SNP VWA3B ENST00000477737 human ensembl 70_37 +1 known missense c.991 p.A331T 0.995 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC WDR63 126820 genome.wustl.edu 37 1 85555822 85555822 + Missense_Mutation SNP C C T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 1 85555822 85555822 C T SNP WDR63 ENST00000294664 human ensembl 70_37 +1 known missense c.764 p.T255M 0.114 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ZNF417 147687 genome.wustl.edu 37 19 58420942 58420942 + Missense_Mutation SNP G G C TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 19 58420942 58420942 G C SNP ZNF417 ENST00000312026 human ensembl 70_37 -1 known missense c.704 p.T235S 0.961 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF417 HGNC ZNF784 147808 genome.wustl.edu 37 19 56133145 56133145 + Missense_Mutation SNP G G T TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 19 56133145 56133145 G T SNP ZNF784 ENST00000325351 human ensembl 70_37 -1 known missense c.944 p.A315E 0.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF784 HGNC ZNF891 101060200 genome.wustl.edu 37 12 133697995 133697995 + Silent SNP T T C TCGA-EX-A69M-01A-11D-A32I-09 TCGA-EX-A69M-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b98960-ba0c-490d-b43d-75d8a1ff9e04 e6a488e7-6307-4b66-ab64-31b087b53e90 12 133697995 133697995 T C SNP ZNF891 ENST00000397313 human ensembl 70_37 -1 known silent c.510 p.G170 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF891 HGNC