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 ALKBH3 221120 genome.wustl.edu 37 11 43941472 43941472 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 43941472 43941472 G A SNP ALKBH3 ENST00000302708 human ensembl 70_37 +1 known missense c.773 p.R258Q 1.000 pfam_Oxoglu/Fe-dep_dioxygenase pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH3 HGNC AMY2B 280 genome.wustl.edu 37 1 104115771 104115771 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 104115771 104115771 C T SNP AMY2B ENST00000361355 human ensembl 70_37 +1 known silent c.402 p.F134 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC AP1M1 8907 genome.wustl.edu 37 19 16317185 16317185 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 16317185 16317185 C T SNP AP1M1 ENST00000444449 human ensembl 70_37 +1 known missense c.233 p.S78L 0.999 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC BARHL2 343472 genome.wustl.edu 37 1 91182608 91182608 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 91182608 91182608 G C SNP BARHL2 ENST00000370445 human ensembl 70_37 -1 known missense c.145 p.P49A 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors BARHL2 HGNC BTBD11 121551 genome.wustl.edu 37 12 108013935 108013935 + Silent SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 12 108013935 108013935 G A SNP BTBD11 ENST00000280758 human ensembl 70_37 +1 known silent c.2625 p.A875 0.768 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC C17orf102 400591 genome.wustl.edu 37 17 32906120 32906120 + Silent SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 32906120 32906120 G A SNP C17orf102 ENST00000357754 human ensembl 70_37 -1 known silent c.180 p.C60 0.952 NULL NULL - no_errors C17orf102 HGNC C5orf56 441108 genome.wustl.edu 37 5 131792780 131792780 + Silent SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 131792780 131792780 G A SNP C5orf56 ENST00000378947 human ensembl 70_37 +1 novel silent c.165 p.R55 0.000 NULL NULL - no_errors C5orf56 HGNC CCDC178 374864 genome.wustl.edu 37 18 30846981 30846981 + Silent SNP T T C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 18 30846981 30846981 T C SNP CCDC178 ENST00000406524 human ensembl 70_37 -1 known silent c.1308 p.A436 0.652 NULL NULL - no_errors CCDC178 HGNC CCDC88B 283234 genome.wustl.edu 37 11 64108934 64108934 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 64108934 64108934 C T SNP CCDC88B ENST00000356786 human ensembl 70_37 +1 known silent c.489 p.L163 1.000 pfam_HOOK pfam_HOOK - no_errors CCDC88B HGNC CDHR2 54825 genome.wustl.edu 37 5 176002413 176002413 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 176002413 176002413 G A SNP CDHR2 ENST00000261944 human ensembl 70_37 +1 known missense c.754 p.E252K 0.880 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC CECR2 27443 genome.wustl.edu 37 22 18020198 18020198 + Nonsense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 22 18020198 18020198 G A SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel nonsense c.1527 p.W509* 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC CLTC 1213 genome.wustl.edu 37 17 57741230 57741230 + Missense_Mutation SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 57741230 57741230 C G SNP CLTC ENST00000269122 human ensembl 70_37 +1 known missense c.1396 p.L466V 1.000 superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC COL6A2 1292 genome.wustl.edu 37 21 47552113 47552113 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 21 47552113 47552113 G A SNP COL6A2 ENST00000300527 human ensembl 70_37 +1 known missense c.2707 p.E903K 0.713 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC COLEC11 78989 genome.wustl.edu 37 2 3691678 3691678 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 3691678 3691678 C T SNP COLEC11 ENST00000418971 human ensembl 70_37 +1 known silent c.828 p.F276 0.997 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC CTNND1 1500 genome.wustl.edu 37 11 57576858 57576858 + Silent SNP T T C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 57576858 57576858 T C SNP CTNND1 ENST00000399050 human ensembl 70_37 +1 known silent c.2355 p.V785 0.994 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC DNAH1 25981 genome.wustl.edu 37 3 52417483 52417483 + Nonsense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 3 52417483 52417483 C T SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known nonsense c.8023 p.Q2675* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAJC11 55735 genome.wustl.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 6727803 6727804 TC - DEL DNAJC11 ENST00000377577 human ensembl 70_37 -1 known frame_shift_del c.344_343 p.E115fs 1.000:1.000 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC11 HGNC DNMT1 1786 genome.wustl.edu 37 19 10273368 10273368 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 10273368 10273368 G A SNP DNMT1 ENST00000359526 human ensembl 70_37 -1 known missense c.983 p.S328F 0.064 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC DPP10 57628 genome.wustl.edu 37 2 116257125 116257125 + Missense_Mutation SNP T T A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 116257125 116257125 T A SNP DPP10 ENST00000393147 human ensembl 70_37 +1 known missense c.323 p.I108N 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC DPYSL2 1808 genome.wustl.edu 37 8 26441409 26441409 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 8 26441409 26441409 C T SNP DPYSL2 ENST00000311151 human ensembl 70_37 +1 known missense c.223 p.R75C 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL2 HGNC DRD3 1814 genome.wustl.edu 37 3 113866346 113866346 + Silent SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 3 113866346 113866346 G T SNP DRD3 ENST00000383673 human ensembl 70_37 -1 known silent c.442 p.R148 0.870 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC EEF1A1 1915 genome.wustl.edu 37 6 74228875 74228875 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 6 74228875 74228875 C T SNP EEF1A1 ENST00000309268 human ensembl 70_37 -1 known missense c.401 p.R134Q 1.000 pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC EFNA5 1946 genome.wustl.edu 37 5 106716822 106716825 + RNA DEL GAAA GAAA - TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 GAAA GAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 106716822 106716825 GAAA - DEL EFNA5 ENST00000510359 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000:1.000:1.000 - - - no_errors EFNA5 HGNC EHD1 10938 genome.wustl.edu 37 11 64645608 64645608 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 64645608 64645608 G A SNP EHD1 ENST00000320631 human ensembl 70_37 -1 known missense c.329 p.P110L 1.000 pfam_Dynamin_GTPase pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC EHMT1 79813 genome.wustl.edu 37 9 140672487 140672487 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 9 140672487 140672487 C T SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known silent c.2172 p.L724 0.986 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENPEP 2028 genome.wustl.edu 37 4 111397808 111397808 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 4 111397808 111397808 G A SNP ENPEP ENST00000265162 human ensembl 70_37 +1 known missense c.238 p.A80T 0.083 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000214581 0 genome.wustl.edu 37 16 34682280 34682280 + RNA SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 16 34682280 34682280 C T SNP ENSG00000214581 ENST00000568619 human ensembl 70_37 -1 known rna NULL NULL 0.985 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000225278 0 genome.wustl.edu 37 1 143211647 143211647 + RNA DEL T T - TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 143211647 143211647 T - DEL ENSG00000225278 ENST00000437865 human ensembl 70_37 -1 known rna NULL NULL 0.128 - - - no_errors BX571672.5 Clone_based_vega_gene ENSG00000232151 0 genome.wustl.edu 37 1 149649800 149649800 + RNA SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 149649800 149649800 C A SNP ENSG00000232151 ENST00000445225 human ensembl 70_37 +1 known rna NULL NULL 0.981 - - - no_errors RP11-277L2.2 Clone_based_vega_gene ENSG00000247033 0 genome.wustl.edu 37 16 75142719 75142719 + RNA SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 16 75142719 75142719 C T SNP ENSG00000247033 ENST00000499110 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-252E2.1 Clone_based_vega_gene ENSG00000254614 0 genome.wustl.edu 37 11 64948463 64948463 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 64948463 64948463 C T SNP ENSG00000254614 ENST00000526623 human ensembl 70_37 -1 putative missense c.535 p.A179T 0.002 NULL NULL - no_errors AP003068.23 Clone_based_vega_gene EP300 2033 genome.wustl.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 22 41565529 41565529 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4195 p.D1399N 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ERBB2 2064 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 37868208 37868208 C T SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.929 p.S310F 1.000 pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ERVW-1 30816 genome.wustl.edu 37 7 92099233 92099233 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 7 92099233 92099233 G A SNP ERVW-1 ENST00000493463 human ensembl 70_37 -1 known missense c.463 p.H155Y 0.356 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC FANCD2 2177 genome.wustl.edu 37 3 10107104 10107104 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 3 10107104 10107104 C T SNP FANCD2 ENST00000287647 human ensembl 70_37 +1 known missense c.2195 p.P732L 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC FAT1 2195 genome.wustl.edu 37 4 187527264 187527264 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 4 187527264 187527264 G A SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known missense c.10310 p.A3437V 0.891 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC FBXO31 79791 genome.wustl.edu 37 16 87376497 87376497 + Missense_Mutation SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 16 87376497 87376497 C A SNP FBXO31 ENST00000311635 human ensembl 70_37 -1 known missense c.718 p.G240C 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO31 HGNC FOXK2 3607 genome.wustl.edu 37 17 80543821 80543821 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 80543821 80543821 C T SNP FOXK2 ENST00000335255 human ensembl 70_37 +1 known missense c.1321 p.R441W 1.000 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK2 HGNC FOXRED2 80020 genome.wustl.edu 37 22 36886250 36886250 + Silent SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 22 36886250 36886250 C G SNP FOXRED2 ENST00000216187 human ensembl 70_37 -1 known silent c.1860 p.L620 0.642 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC FSTL5 56884 genome.wustl.edu 37 4 162376269 162376269 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 4 162376269 162376269 C T SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known silent c.1728 p.L576 1.000 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC GART 2618 genome.wustl.edu 37 21 34878376 34878376 + Missense_Mutation SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 21 34878376 34878376 C G SNP GART ENST00000381815 human ensembl 70_37 -1 known missense c.2488 p.E830Q 0.004 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,tigrfam_PurN_trans pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC HAS1 3036 genome.wustl.edu 37 19 52217408 52217408 + Missense_Mutation SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 52217408 52217408 C A SNP HAS1 ENST00000594621 human ensembl 70_37 -1 putative missense c.497 p.C166F 0.091 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC HELZ 9931 genome.wustl.edu 37 17 65132235 65132235 + Missense_Mutation SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 65132235 65132235 C G SNP HELZ ENST00000358691 human ensembl 70_37 -1 known missense c.3033 p.K1011N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors HELZ HGNC HEXDC 284004 genome.wustl.edu 37 17 80393586 80393586 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 80393586 80393586 G A SNP HEXDC ENST00000337014 human ensembl 70_37 +1 known missense c.469 p.E157K 0.918 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC HMGB1P5 10354 genome.wustl.edu 37 3 22424293 22424293 + RNA SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 3 22424293 22424293 C G SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors HMGB1P5 HGNC HSPE1 3336 genome.wustl.edu 37 2 198365389 198365389 + RNA SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 198365389 198365389 C G SNP HSPE1 ENST00000465573 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors HSPE1 HGNC HTRA1 5654 genome.wustl.edu 37 10 124266386 124266386 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 10 124266386 124266386 C T SNP HTRA1 ENST00000368984 human ensembl 70_37 +1 known silent c.957 p.T319 0.003 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,prints_Peptidase_S1C pfam_Peptidase_S1_S6,pfam_PDZ,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_IGFBP-like,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_PDZ,prints_Peptidase_S1C,pfscan_PDZ - no_errors HTRA1 HGNC KIAA1462 57608 genome.wustl.edu 37 10 30316447 30316447 + Missense_Mutation SNP T T C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 10 30316447 30316447 T C SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known missense c.2630 p.E877G 0.000 NULL NULL - no_errors KIAA1462 HGNC L1CAM 3897 genome.wustl.edu 37 X 153132162 153132162 + Silent SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc X 153132162 153132162 G T SNP L1CAM ENST00000543994 human ensembl 70_37 -1 known silent c.2379 p.V793 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC LAMA2 3908 genome.wustl.edu 37 6 129762061 129762061 + Silent SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 6 129762061 129762061 C G SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known silent c.6186 p.L2062 0.000 pfam_Laminin_II pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC LAMA4 3910 genome.wustl.edu 37 6 112575244 112575244 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 6 112575244 112575244 C T SNP LAMA4 ENST00000230538 human ensembl 70_37 -1 known missense c.109 p.E37K 1.000 NULL pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC LARP1 23367 genome.wustl.edu 37 5 154181657 154181657 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 154181657 154181657 G C SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known missense c.1576 p.E526Q 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC LMBR1L 55716 genome.wustl.edu 37 12 49504417 49504417 + RNA SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 12 49504417 49504417 C A SNP LMBR1L ENST00000548983 human ensembl 70_37 -1 known rna NULL NULL 0.787 - - - no_errors LMBR1L HGNC LMTK3 114783 genome.wustl.edu 37 19 49000803 49000803 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 49000803 49000803 C T SNP LMTK3 ENST00000270238 human ensembl 70_37 -1 known missense c.3610 p.E1204K 0.993 smart_Ser/Thr_dual-sp_kinase_dom 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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC LOC257396 257396 genome.wustl.edu 37 5 52405689 52405689 + RNA SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 52405689 52405689 C T SNP LOC257396 ENST00000502171 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors CTD-2366F13.1 Clone_based_vega_gene LOC729461 729461 genome.wustl.edu 37 22 20640623 20640623 + RNA SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 22 20640623 20640623 C T SNP LOC729461 ENST00000577456 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors AC011718.2 Clone_based_vega_gene LPHN3 23284 genome.wustl.edu 37 4 62598964 62598964 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 4 62598964 62598964 G A SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.1091 p.R364Q 1.000 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 LPHN3 HGNC LRRC37A6P 387646 genome.wustl.edu 37 10 27538702 27538702 + RNA SNP T T C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 10 27538702 27538702 T C SNP LRRC37A6P ENST00000284414 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors LRRC37A6P HGNC MAPKAP1 79109 genome.wustl.edu 37 9 128327727 128327728 + RNA INS - - T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 9 128327727 128327728 - T INS MAPKAP1 ENST00000448439 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.003 - - - no_errors MAPKAP1 HGNC MGA 23269 genome.wustl.edu 37 15 42058491 42058491 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 15 42058491 42058491 G C SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.8211 p.Q2737H 0.985 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC MGRN1 23295 genome.wustl.edu 37 16 4700414 4700414 + Missense_Mutation SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 16 4700414 4700414 C A SNP MGRN1 ENST00000262370 human ensembl 70_37 +1 known missense c.137 p.T46N 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC MIR3140 100422896 genome.wustl.edu 37 4 153410533 153410533 + RNA SNP A A G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 4 153410533 153410533 A G SNP MIR3140 ENST00000583685 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3140 HGNC MKL1 57591 genome.wustl.edu 37 22 40915231 40915231 + RNA SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 22 40915231 40915231 G A SNP MKL1 ENST00000463769 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MKL1 HGNC KMT2A 4297 genome.wustl.edu 37 11 118342900 118342900 + Silent SNP A A G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 118342900 118342900 A G SNP MLL ENST00000389506 human ensembl 70_37 +1 known silent c.1026 p.K342 0.912 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC KMT2A 4297 genome.wustl.edu 37 11 118376933 118376933 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 118376933 118376933 C T SNP MLL ENST00000389506 human ensembl 70_37 +1 known silent c.10317 p.A3439 0.029 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC MMP20 9313 genome.wustl.edu 37 11 102447981 102447981 + RNA SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 102447981 102447981 C A SNP MMP20 ENST00000542305 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors MMP20 HGNC MUC16 94025 genome.wustl.edu 37 19 9043453 9043453 + Missense_Mutation SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 9043453 9043453 G T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.36076 p.H12026N 0.782 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC2 4583 genome.wustl.edu 37 11 1092219 1092219 + Silent SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 1092219 1092219 C G SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.4038 p.L1346 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC NETO1 81832 genome.wustl.edu 37 18 70461384 70461384 + Missense_Mutation SNP T T C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 18 70461384 70461384 T C SNP NETO1 ENST00000327305 human ensembl 70_37 -1 known missense c.607 p.K203E 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178098944 178098944 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 178098944 178098944 C T SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.101 p.R34Q 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NPTXR 23467 genome.wustl.edu 37 22 39219171 39219171 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 22 39219171 39219171 C T SNP NPTXR ENST00000333039 human ensembl 70_37 -1 known missense c.1195 p.G399R 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC OR10W1 81341 genome.wustl.edu 37 11 58034737 58034737 + Silent SNP A A G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 58034737 58034737 A G SNP OR10W1 ENST00000395079 human ensembl 70_37 -1 known silent c.594 p.I198 0.001 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 OR10W1 HGNC OR8K3 219473 genome.wustl.edu 37 11 56086680 56086681 + Frame_Shift_Ins INS - - A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 56086680 56086681 - A INS OR8K3 ENST00000312711 human ensembl 70_37 +1 known frame_shift_ins c.898_899 p.L300fs 0.004:0.022 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K3 HGNC PALM3 342979 genome.wustl.edu 37 19 14167476 14167476 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 14167476 14167476 G C SNP PALM3 ENST00000340790 human ensembl 70_37 -1 known missense c.267 p.F89L 1.000 NULL NULL - no_errors PALM3 HGNC PCDHA1 56147 genome.wustl.edu 37 5 140166014 140166014 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 140166014 140166014 C T SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known missense c.139 p.R47C 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC PCDHGA2 56113 genome.wustl.edu 37 5 140720771 140720771 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 140720771 140720771 G A SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known missense c.2233 p.G745R 0.987 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC PCDHGB7 56099 genome.wustl.edu 37 5 140797447 140797447 + Silent SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 140797447 140797447 G A SNP PCDHGB7 ENST00000398594 human ensembl 70_37 +1 known silent c.21 p.Q7 0.735 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC PFDN4 5203 genome.wustl.edu 37 20 52835609 52835609 + Nonsense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 20 52835609 52835609 C T SNP PFDN4 ENST00000441080 human ensembl 70_37 +1 known nonsense c.325 p.Q109* 1.000 pfam_PFD_beta-like,superfamily_Prefoldin,pirsf_Prefoldin_su-4 pfam_PFD_beta-like,superfamily_Prefoldin,pirsf_Prefoldin_su-4 - no_errors PFDN4 HGNC PGK1 5230 genome.wustl.edu 37 X 77381488 77381488 + RNA SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc X 77381488 77381488 C T SNP PGK1 ENST00000476531 human ensembl 70_37 +1 known rna NULL NULL 0.984 - - - no_errors PGK1 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC POM121L12 285877 genome.wustl.edu 37 7 53103693 53103693 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 7 53103693 53103693 G A SNP POM121L12 ENST00000408890 human ensembl 70_37 +1 known missense c.329 p.R110Q 0.000 NULL NULL - no_errors POM121L12 HGNC PRH2 5555 genome.wustl.edu 37 12 11083355 11083355 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 12 11083355 11083355 G C SNP PRH2 ENST00000381847 human ensembl 70_37 +1 known missense c.195 p.Q65H 0.000 NULL NULL - no_errors PRH2 HGNC PSTPIP1 9051 genome.wustl.edu 37 15 77317846 77317846 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 15 77317846 77317846 G C SNP PSTPIP1 ENST00000559785 human ensembl 70_37 +1 known missense c.450 p.E150D 1.000 pfam_FCH,superfamily_Prismane-like,smart_FCH pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH - no_errors PSTPIP1 HGNC PTCD1 26024 genome.wustl.edu 37 7 99032527 99032527 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 7 99032527 99032527 C T SNP PTCD1 ENST00000555673 human ensembl 70_37 -1 known silent c.486 p.R162 0.003 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors PTCD1 HGNC RAPGEF1 2889 genome.wustl.edu 37 9 134465279 134465279 + Missense_Mutation SNP T T C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 9 134465279 134465279 T C SNP RAPGEF1 ENST00000372190 human ensembl 70_37 -1 known missense c.2357 p.E786G 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC RB1 5925 genome.wustl.edu 37 13 48942685 48942685 + Nonsense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 13 48942685 48942685 C T SNP RB1 ENST00000267163 human ensembl 70_37 +1 known nonsense c.1072 p.R358* 0.738 NULL pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC RC3H2 54542 genome.wustl.edu 37 9 125616293 125616293 + Missense_Mutation SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 9 125616293 125616293 C A SNP RC3H2 ENST00000357244 human ensembl 70_37 -1 known missense c.3055 p.D1019Y 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC REL 5966 genome.wustl.edu 37 2 61147541 61147541 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 61147541 61147541 G A SNP REL ENST00000295025 human ensembl 70_37 +1 known missense c.946 p.D316N 0.006 superfamily_Ig_E-set pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC RIOK3 8780 genome.wustl.edu 37 18 21046196 21046196 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 18 21046196 21046196 C T SNP RIOK3 ENST00000339486 human ensembl 70_37 +1 known missense c.643 p.R215C 1.000 pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC RNMTL1 55178 genome.wustl.edu 37 17 695084 695084 + Missense_Mutation SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 695084 695084 G T SNP RNMTL1 ENST00000304478 human ensembl 70_37 +1 known missense c.1038 p.W346C 1.000 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd - no_errors RNMTL1 HGNC RNPEP 6051 genome.wustl.edu 37 1 201966484 201966484 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 201966484 201966484 G C SNP RNPEP ENST00000295640 human ensembl 70_37 +1 known missense c.892 p.G298R 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC SEMA4G 57715 genome.wustl.edu 37 10 102740026 102740026 + Missense_Mutation SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 10 102740026 102740026 C A SNP SEMA4G ENST00000210633 human ensembl 70_37 +1 known missense c.1276 p.R426S 0.959 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4G HGNC SIGLEC8 27181 genome.wustl.edu 37 19 51961226 51961226 + Nonsense_Mutation SNP A A T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 51961226 51961226 A T SNP SIGLEC8 ENST00000321424 human ensembl 70_37 -1 known nonsense c.416 p.L139* 0.001 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC8 HGNC SKAP1 8631 genome.wustl.edu 37 17 46262164 46262164 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 46262164 46262164 C T SNP SKAP1 ENST00000336915 human ensembl 70_37 -1 known missense c.488 p.R163Q 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP1 HGNC SLC27A5 10998 genome.wustl.edu 37 19 59021339 59021339 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 59021339 59021339 C T SNP SLC27A5 ENST00000263093 human ensembl 70_37 -1 known missense c.932 p.R311Q 0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC SLC9A8 23315 genome.wustl.edu 37 20 48467300 48467301 + Frame_Shift_Ins INS - - T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 20 48467300 48467301 - T INS SLC9A8 ENST00000417961 human ensembl 70_37 +1 known frame_shift_ins c.536_537 p.F183fs 0.284:0.189 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC SNX27 81609 genome.wustl.edu 37 1 151611373 151611373 + Missense_Mutation SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 151611373 151611373 G C SNP SNX27 ENST00000368841 human ensembl 70_37 +1 known missense c.190 p.E64Q 1.000 NULL NULL - no_errors SNX27 HGNC SNX27 81609 genome.wustl.edu 37 1 151611518 151611518 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 151611518 151611518 G A SNP SNX27 ENST00000368843 human ensembl 70_37 +1 known missense c.466 p.D156N 1.000 superfamily_Phox,smart_Phox pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC SPACA3 124912 genome.wustl.edu 37 17 31322636 31322636 + Missense_Mutation SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 31322636 31322636 C A SNP SPACA3 ENST00000269053 human ensembl 70_37 +1 known missense c.244 p.L82I 0.042 NULL pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors SPACA3 HGNC SPDEF 25803 genome.wustl.edu 37 6 34512080 34512080 + Silent SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 6 34512080 34512080 G A SNP SPDEF ENST00000374037 human ensembl 70_37 -1 known silent c.153 p.P51 0.916 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors SPDEF HGNC SPOCK3 50859 genome.wustl.edu 37 4 167656176 167656176 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 4 167656176 167656176 C T SNP SPOCK3 ENST00000357154 human ensembl 70_37 -1 known missense c.1207 p.D403N 0.999 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC SREK1 140890 genome.wustl.edu 37 5 65475515 65475515 + RNA SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 65475515 65475515 G T SNP SREK1 ENST00000284041 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SREK1 HGNC SRPRB 58477 genome.wustl.edu 37 3 133525541 133525541 + Missense_Mutation SNP T T A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 3 133525541 133525541 T A SNP SRPRB ENST00000466490 human ensembl 70_37 +1 known missense c.243 p.F81L 0.999 pfam_SRP_receptor_beta_su,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA pfam_SRP_receptor_beta_su,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA - no_errors SRPRB HGNC TCN1 6947 genome.wustl.edu 37 11 59626606 59626606 + Missense_Mutation SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 11 59626606 59626606 C G SNP TCN1 ENST00000257264 human ensembl 70_37 -1 known missense c.691 p.E231Q 0.003 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors TCN1 HGNC TENM1 10178 genome.wustl.edu 37 X 123699264 123699264 + Missense_Mutation SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc X 123699264 123699264 C G SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.2224 p.E742Q 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC TICRR 90381 genome.wustl.edu 37 15 90164700 90164700 + Silent SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 15 90164700 90164700 C A SNP TICRR ENST00000268138 human ensembl 70_37 +1 known silent c.3231 p.I1077 0.118 NULL NULL - no_errors TICRR HGNC TMEM132D 121256 genome.wustl.edu 37 12 130015619 130015619 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 12 130015619 130015619 G A SNP TMEM132D ENST00000422113 human ensembl 70_37 -1 known missense c.1100 p.A367V 0.006 NULL NULL - no_errors TMEM132D HGNC TNFAIP6 7130 genome.wustl.edu 37 2 152236046 152236046 + Frame_Shift_Del DEL A A - TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 152236046 152236046 A - DEL TNFAIP6 ENST00000243347 human ensembl 70_37 +1 known frame_shift_del c.833 p.*278fs 0.961 NULL pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link - no_errors TNFAIP6 HGNC TRAPPC2L 51693 genome.wustl.edu 37 16 88923573 88923573 + Missense_Mutation SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 16 88923573 88923573 C G SNP TRAPPC2L ENST00000301021 human ensembl 70_37 +1 known missense c.15 p.I5M 0.996 superfamily_Longin-like_dom pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC2L HGNC TRPM1 4308 genome.wustl.edu 37 15 31295133 31295133 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 15 31295133 31295133 G A SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known missense c.3821 p.A1274V 0.772 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC TTN 7273 genome.wustl.edu 37 2 179594472 179594472 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 179594472 179594472 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.14776 p.V4926I 0.992 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC UBE2O 63893 genome.wustl.edu 37 17 74394636 74394636 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 74394636 74394636 C T SNP UBE2O ENST00000319380 human ensembl 70_37 -1 known missense c.1813 p.G605S 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC UGT1A5 54579 genome.wustl.edu 37 2 234622208 234622208 + Missense_Mutation SNP T T C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 234622208 234622208 T C SNP UGT1A5 ENST00000373414 human ensembl 70_37 +1 known missense c.571 p.S191P 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A5 HGNC USP32 84669 genome.wustl.edu 37 17 58303537 58303537 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 58303537 58303537 G A SNP USP32 ENST00000300896 human ensembl 70_37 -1 known missense c.1295 p.S432L 0.016 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC USP6 9098 genome.wustl.edu 37 17 5037191 5037191 + Nonsense_Mutation SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 17 5037191 5037191 G T SNP USP6 ENST00000250066 human ensembl 70_37 +1 known nonsense c.394 p.E132* 0.941 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19 - no_errors USP6 HGNC USP9X 8239 genome.wustl.edu 37 X 41043695 41043695 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc X 41043695 41043695 G A SNP USP9X ENST00000324545 human ensembl 70_37 +1 known missense c.3325 p.D1109N 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC VPS16 64601 genome.wustl.edu 37 20 2845015 2845015 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 20 2845015 2845015 C T SNP VPS16 ENST00000380445 human ensembl 70_37 +1 known silent c.1725 p.F575 1.000 pfam_Vps16_C,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC WDR45 11152 genome.wustl.edu 37 X 48935159 48935159 + RNA SNP G G C TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc X 48935159 48935159 G C SNP WDR45 ENST00000465431 human ensembl 70_37 -1 known rna NULL NULL 0.031 - - - no_errors WDR45 HGNC WDR7 23335 genome.wustl.edu 37 18 54694411 54694411 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 18 54694411 54694411 C T SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known silent c.4446 p.D1482 0.987 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC WNK1 65125 genome.wustl.edu 37 12 970493 970493 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 12 970493 970493 C T SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known silent c.1935 p.P645 0.896 NULL pfam_Prot_kinase_cat_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_cat_dom - no_errors WNK1 HGNC ZAP70 7535 genome.wustl.edu 37 2 98351725 98351725 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 98351725 98351725 C T SNP ZAP70 ENST00000264972 human ensembl 70_37 +1 known silent c.1095 p.D365 0.720 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,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ZC3H12A 80149 genome.wustl.edu 37 1 37947261 37947261 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 1 37947261 37947261 C T SNP ZC3H12A ENST00000373082 human ensembl 70_37 +1 known missense c.643 p.R215C 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ZDHHC11 79844 genome.wustl.edu 37 5 825288 825288 + Silent SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 825288 825288 C T SNP ZDHHC11 ENST00000283441 human ensembl 70_37 -1 known silent c.1014 p.S338 0.001 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ZFP2 80108 genome.wustl.edu 37 5 178358817 178358817 + Missense_Mutation SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 178358817 178358817 G T SNP ZFP2 ENST00000361362 human ensembl 70_37 +1 known missense c.503 p.S168I 0.958 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ZFR2 23217 genome.wustl.edu 37 19 3822092 3822092 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 3822092 3822092 C T SNP ZFR2 ENST00000262961 human ensembl 70_37 -1 known missense c.1478 p.R493Q 1.000 smart_Znf_U1 pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ZNF19 7567 genome.wustl.edu 37 16 71509103 71509103 + Silent SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 16 71509103 71509103 G T SNP ZNF19 ENST00000288177 human ensembl 70_37 -1 known silent c.1347 p.L449 0.140 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 ZNF19 HGNC ZNF366 167465 genome.wustl.edu 37 5 71756680 71756680 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 5 71756680 71756680 C T SNP ZNF366 ENST00000318442 human ensembl 70_37 -1 known missense c.644 p.R215Q 0.007 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ZNF415 55786 genome.wustl.edu 37 19 53612316 53612316 + Missense_Mutation SNP A A G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 53612316 53612316 A G SNP ZNF415 ENST00000448501 human ensembl 70_37 -1 known missense c.1126 p.Y376H 0.008 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ZNF638 27332 genome.wustl.edu 37 2 71653849 71653849 + Missense_Mutation SNP C C G TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 2 71653849 71653849 C G SNP ZNF638 ENST00000264447 human ensembl 70_37 +1 known missense c.4850 p.A1617G 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ZNF799 90576 genome.wustl.edu 37 19 12502496 12502496 + Missense_Mutation SNP G G T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 12502496 12502496 G T SNP ZNF799 ENST00000430385 human ensembl 70_37 -1 known missense c.716 p.S239Y 0.001 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 ZNF799 HGNC ZNF91 7644 genome.wustl.edu 37 19 23544220 23544220 + Missense_Mutation SNP C C T TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc 19 23544220 23544220 C T SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known missense c.1561 p.E521K 0.004 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 ZNF91 HGNC ZXDB 158586 genome.wustl.edu 37 X 57619632 57619632 + Missense_Mutation SNP G G A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d99b5656-9672-42a8-8902-6ee10c559373 0a1ed0b6-1b6d-4e27-b5eb-5fee4218c7dc X 57619632 57619632 G A SNP ZXDB ENST00000374888 human ensembl 70_37 +1 known missense c.1151 p.R384H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC