Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AMY2B 0 genome.wustl.edu 37 1 104117936 104117936 + Nonsense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 104117936 104117936 G T SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known nonsense c.970 p.G324* 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 ENSG00000240038 330 0 0 261 50 16.0772 GPR61 0 genome.wustl.edu 37 1 110086505 110086505 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 110086505 110086505 G T SNP GPR61 ENST00000404129 human ensembl 74_37 +1 known silent c.861 p.V287 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR61 HGNC ENSG00000156097 114 0 0 80 14 14.8936 GSTM1 0 genome.wustl.edu 37 1 110233147 110233147 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 110233147 110233147 C T SNP GSTM1 ENST00000309851 human ensembl 74_37 +1 known silent c.528 p.D176 0.014 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM1 HGNC ENSG00000134184 11 0 0 16 3 15.7895 LRIG2 0 genome.wustl.edu 37 1 113655265 113655265 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 113655265 113655265 C A SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.1963 p.P655T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 111 0 0 93 7 7 VTCN1 0 genome.wustl.edu 37 1 117699342 117699342 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 117699342 117699342 C T SNP VTCN1 ENST00000359008 human ensembl 74_37 -1 known missense c.308 p.R103Q 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VTCN1 HGNC ENSG00000134258 110 0 0 55 15 21.4286 AGTRAP 0 genome.wustl.edu 37 1 11805952 11805952 + RNA SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 11805952 11805952 C T SNP AGTRAP ENST00000494437 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors AGTRAP HGNC ENSG00000177674 109 0 0 64 10 13.5135 PRAMEF4 0 genome.wustl.edu 37 1 12943042 12943042 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 12943042 12943042 C T SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known silent c.174 p.V58 0.724 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 158 0 0 108 37 25.5172 PDE4DIP 0 genome.wustl.edu 37 1 144931651 144931651 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 144931651 144931651 T A SNP PDE4DIP ENST00000313431 human ensembl 74_37 -1 known missense c.58 p.I20F 1.000 NULL superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 86 0 0 88 5 5.37634 ITGA10 0 genome.wustl.edu 37 1 145530913 145530913 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 145530913 145530913 T C SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known silent c.645 p.H215 0.988 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 69 0 0 80 8 9.09091 C1orf51 0 genome.wustl.edu 37 1 150258895 150258895 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 150258895 150258895 G A SNP C1orf51 ENST00000290363 human ensembl 74_37 +1 known missense c.687 p.M229I 0.009 NULL NULL - no_errors C1orf51 HGNC ENSG00000159208 136 0 0 129 18 12.2449 PRPF3 0 genome.wustl.edu 37 1 150300910 150300910 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 150300910 150300910 G T SNP PRPF3 ENST00000324862 human ensembl 74_37 +1 known missense c.408 p.M136I 1.000 NULL pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors PRPF3 HGNC ENSG00000117360 183 0 0 172 20 10.4167 LINGO4 0 genome.wustl.edu 37 1 151774638 151774638 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 151774638 151774638 C T SNP LINGO4 ENST00000368820 human ensembl 74_37 -1 known silent c.543 p.K181 0.249 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO4 HGNC ENSG00000213171 82 0 0 76 12 13.6364 FLG 0 genome.wustl.edu 37 1 152279699 152279699 + Nonsense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 152279699 152279699 C A SNP FLG ENST00000368799 human ensembl 74_37 -1 known nonsense c.7663 p.E2555* 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 427 0 0 378 49 11.4754 LCE2C 0 genome.wustl.edu 37 1 152648653 152648653 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 152648653 152648653 C T SNP LCE2C ENST00000368783 human ensembl 74_37 +1 known silent c.162 p.S54 0.979 NULL NULL - no_errors LCE2C HGNC ENSG00000187180 184 0 0 173 22 11.2821 CHTOP 0 genome.wustl.edu 37 1 153609082 153609082 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 153609082 153609082 G A SNP CHTOP ENST00000368694 human ensembl 74_37 +1 known silent c.18 p.A6 0.995 NULL NULL - no_errors CHTOP HGNC ENSG00000160679 44 0 0 56 6 9.67742 GATAD2B 0 genome.wustl.edu 37 1 153800775 153800775 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 153800775 153800775 T A SNP GATAD2B ENST00000368655 human ensembl 74_37 -1 known missense c.49 p.S17C 1.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2B HGNC ENSG00000143614 141 0 0 143 20 12.2699 DENND4B 0 genome.wustl.edu 37 1 153914362 153914362 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 153914362 153914362 G A SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known silent c.1038 p.H346 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 85 0 0 93 5 5.10204 THBS3 0 genome.wustl.edu 37 1 155171231 155171231 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 155171231 155171231 G A SNP THBS3 ENST00000368378 human ensembl 74_37 -1 known missense c.1306 p.R436C 1.000 smart_EG-like_dom pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 142 0 0 111 20 15.2672 CLK2 0 genome.wustl.edu 37 1 155233108 155233108 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 155233108 155233108 C T SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known silent c.1401 p.R467 0.935 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK2 HGNC ENSG00000176444 57 0 0 79 6 7.05882 CD1A 0 genome.wustl.edu 37 1 158224875 158224875 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 158224875 158224875 G A SNP CD1A ENST00000289429 human ensembl 74_37 +1 known silent c.60 p.G20 0.000 NULL pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 106 0 0 75 4 5.06329 OR10K1 0 genome.wustl.edu 37 1 158436275 158436275 + Silent SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 158436275 158436275 T A SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known silent c.924 p.T308 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 82 0 0 60 7 10.4478 SPTA1 0 genome.wustl.edu 37 1 158592947 158592947 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 158592947 158592947 T C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.5946 p.Q1982 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 397 0 0 269 70 20.649 SPTA1 0 genome.wustl.edu 37 1 158617367 158617367 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 158617367 158617367 A C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3858 p.N1286K 0.087 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 134 0 0 101 22 17.8862 SPTA1 0 genome.wustl.edu 37 1 158627418 158627418 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 158627418 158627418 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.2654 p.R885H 0.312 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 172 1 0.578035 136 19 12.2581 FCRL6 0 genome.wustl.edu 37 1 159785385 159785385 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 159785385 159785385 G A SNP FCRL6 ENST00000368106 human ensembl 74_37 +1 known silent c.1239 p.T413 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL6 HGNC ENSG00000181036 91 0 0 70 12 14.6341 SLAMF1 0 genome.wustl.edu 37 1 160607221 160607221 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 160607221 160607221 T C SNP SLAMF1 ENST00000302035 human ensembl 74_37 -1 known missense c.175 p.S59G 0.991 pfam_Sig_lymph_act_molc_N pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom - no_errors SLAMF1 HGNC ENSG00000117090 75 0 0 58 4 6.45161 ADAMTS4 0 genome.wustl.edu 37 1 161163482 161163482 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 161163482 161163482 G A SNP ADAMTS4 ENST00000367996 human ensembl 74_37 -1 known silent c.1683 p.G561 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 199 0 0 140 12 7.89474 DDR2 0 genome.wustl.edu 37 1 162724598 162724598 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 162724598 162724598 C T SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known missense c.370 p.R124W 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 100 0 0 55 15 21.4286 CLCNKA 0 genome.wustl.edu 37 1 16352735 16352735 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 16352735 16352735 G A SNP CLCNKA ENST00000331433 human ensembl 74_37 +1 known missense c.491 p.G164D 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 113 0 0 66 5 7.04225 SCYL3 0 genome.wustl.edu 37 1 169831834 169831834 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 169831834 169831834 G A SNP SCYL3 ENST00000367770 human ensembl 74_37 -1 known missense c.1060 p.R354W 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom - no_errors SCYL3 HGNC ENSG00000000457 266 1 0.374532 194 19 8.92019 TNN 0 genome.wustl.edu 37 1 175087876 175087876 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 175087876 175087876 A G SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.2566 p.R856G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 85 0 0 54 8 12.9032 RALGPS2 0 genome.wustl.edu 37 1 178745914 178745914 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 178745914 178745914 C T SNP RALGPS2 ENST00000367635 human ensembl 74_37 +1 known silent c.15 p.N5 0.999 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 57 0 0 35 4 10.2564 XPR1 0 genome.wustl.edu 37 1 180832973 180832973 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 180832973 180832973 A G SNP XPR1 ENST00000367590 human ensembl 74_37 +1 known missense c.1631 p.N544S 1.000 pfam_EXS_C pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 111 1 0.892857 98 24 19.6721 HMCN1 0 genome.wustl.edu 37 1 186045737 186045737 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 186045737 186045737 A G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.8468 p.K2823R 0.996 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 106 0 0 75 8 9.63855 TROVE2 0 genome.wustl.edu 37 1 193060808 193060808 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 193060808 193060808 C T SNP TROVE2 ENST00000367444 human ensembl 74_37 +1 known missense c.1571 p.S524L 0.001 NULL pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 68 0 0 49 6 10.9091 EMC1 0 genome.wustl.edu 37 1 19545744 19545744 + RNA SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 19545744 19545744 T G SNP EMC1 ENST00000461353 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EMC1 HGNC ENSG00000127463 27 0 0 31 3 8.82353 KCNT2 0 genome.wustl.edu 37 1 196227426 196227426 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 196227426 196227426 T C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.3109 p.T1037A 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 89 0 0 60 20 25 ARL8A 0 genome.wustl.edu 37 1 202113660 202113660 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 202113660 202113660 G A SNP ARL8A ENST00000272217 human ensembl 74_37 -1 known missense c.41 p.A14V 1.000 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL8A HGNC ENSG00000143862 58 0 0 51 4 7.27273 RABIF 0 genome.wustl.edu 37 1 202850209 202850209 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 202850209 202850209 T G SNP RABIF ENST00000367262 human ensembl 74_37 -1 known missense c.269 p.K90T 1.000 pfam_Mss4,superfamily_Mss4-like pfam_Mss4,superfamily_Mss4-like - no_errors RABIF HGNC ENSG00000183155 99 0 0 72 5 6.49351 FAIM3 0 genome.wustl.edu 37 1 207087391 207087391 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 207087391 207087391 A G SNP FAIM3 ENST00000367091 human ensembl 74_37 -1 known missense c.86 p.L29P 0.166 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub - no_errors FAIM3 HGNC ENSG00000162894 140 0 0 103 18 14.876 PLXNA2 0 genome.wustl.edu 37 1 208315796 208315796 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 208315796 208315796 C T SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.1384 p.G462S 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 148 0 0 135 25 15.625 KCNH1 0 genome.wustl.edu 37 1 210977394 210977394 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 210977394 210977394 T C SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.1577 p.Y526C 1.000 superfamily_cNMP-bd-like,prints_K_chnl_volt-dep_ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 73 0 0 48 5 9.43396 NEK2 0 genome.wustl.edu 37 1 211846962 211846962 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 211846962 211846962 G A SNP NEK2 ENST00000540251 human ensembl 74_37 -1 known missense c.289 p.R97W 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors NEK2 HGNC ENSG00000117650 112 0 0 106 13 10.9244 CENPF 0 genome.wustl.edu 37 1 214815439 214815439 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 214815439 214815439 T C SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.3758 p.M1253T 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 56 0 0 61 16 20.7792 KCNK2 0 genome.wustl.edu 37 1 215345501 215345501 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 215345501 215345501 T C SNP KCNK2 ENST00000444842 human ensembl 74_37 +1 known silent c.798 p.T266 1.000 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 150 0 0 131 8 5.7554 ESRRG 0 genome.wustl.edu 37 1 216680288 216680288 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 216680288 216680288 T C SNP ESRRG ENST00000408911 human ensembl 74_37 -1 known missense c.1370 p.K457R 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors ESRRG HGNC ENSG00000196482 70 0 0 52 8 13.3333 SPATA17 0 genome.wustl.edu 37 1 217915421 217915421 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 217915421 217915421 A G SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known missense c.500 p.Y167C 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 112 0 0 104 9 7.9646 USP48 0 genome.wustl.edu 37 1 22079511 22079511 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 22079511 22079511 A G SNP USP48 ENST00000308271 human ensembl 74_37 -1 known silent c.514 p.L172 0.998 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 63 0 0 44 16 26.6667 C1orf115 0 genome.wustl.edu 37 1 220869994 220869994 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 220869994 220869994 T C SNP C1orf115 ENST00000294889 human ensembl 74_37 +1 known missense c.350 p.V117A 0.383 NULL NULL - no_errors C1orf115 HGNC ENSG00000162817 160 0 0 120 10 7.69231 ABCB10 0 genome.wustl.edu 37 1 229676394 229676394 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 229676394 229676394 C T SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.1162 p.A388T 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB10 HGNC ENSG00000135776 119 0 0 79 19 19.3878 PGBD5 0 genome.wustl.edu 37 1 230503877 230503877 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 230503877 230503877 T C SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known silent c.138 p.P46 0.000 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 79 0 0 52 11 17.4603 TSNAX 0 genome.wustl.edu 37 1 231700443 231700443 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 231700443 231700443 G A SNP TSNAX ENST00000366639 human ensembl 74_37 +1 known missense c.665 p.R222H 1.000 pfam_Translin,superfamily_Translin pfam_Translin,superfamily_Translin - no_errors TSNAX HGNC ENSG00000116918 136 0 0 97 13 11.8182 SIPA1L2 0 genome.wustl.edu 37 1 232561520 232561520 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 232561520 232561520 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.4445 p.S1482L 0.996 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 41 0 0 33 4 10.8108 NTPCR 0 genome.wustl.edu 37 1 233092116 233092116 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 233092116 233092116 G A SNP NTPCR ENST00000366628 human ensembl 74_37 +1 known missense c.221 p.R74H 0.248 pfam_Nuc-triphosphatase_THEP1,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Nuc-triphosphatase_THEP1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NTPCR HGNC ENSG00000135778 41 0 0 38 7 15.5556 SLC35F3 0 genome.wustl.edu 37 1 234454627 234454627 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 234454627 234454627 A G SNP SLC35F3 ENST00000366617 human ensembl 74_37 +1 known missense c.878 p.Y293C 1.000 pfam_SLC35_F1/F2/F6 pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6 - no_errors SLC35F3 HGNC ENSG00000183780 182 0 0 154 11 6.66667 LYST 0 genome.wustl.edu 37 1 235976350 235976350 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 235976350 235976350 A G SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.204 p.C68 0.998 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 45 0 0 51 10 16.3934 ACTN2 0 genome.wustl.edu 37 1 236925837 236925837 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 236925837 236925837 C T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.2603 p.A868V 0.960 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 63 0 0 62 4 6.06061 LOC100130331 0 genome.wustl.edu 37 1 238090751 238090751 + RNA SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 238090751 238090751 C T SNP LOC100130331 ENST00000450451 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-193H5.1 Clone_based_vega_gene ENSG00000237250 15 0 0 17 3 15 EXO1 0 genome.wustl.edu 37 1 242035442 242035442 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 242035442 242035442 T C SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known missense c.1376 p.F459S 0.000 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 86 0 0 62 7 10.1449 C1orf101 0 genome.wustl.edu 37 1 244715941 244715941 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 244715941 244715941 G A SNP C1orf101 ENST00000366531 human ensembl 74_37 +1 known missense c.401 p.R134Q 0.008 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 175 1 0.568182 158 12 7.05882 AHCTF1 0 genome.wustl.edu 37 1 247063505 247063505 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 247063505 247063505 A G SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.1321 p.S441P 1.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 140 0 0 145 28 16.185 OR2W5 0 genome.wustl.edu 37 1 247655067 247655067 + RNA SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 247655067 247655067 C A SNP OR2W5 ENST00000522351 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors OR2W5 HGNC ENSG00000203664 143 0 0 134 28 17.284 UBXN11 0 genome.wustl.edu 37 1 26608997 26608997 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 26608997 26608997 A G SNP UBXN11 ENST00000374221 human ensembl 74_37 -1 known silent c.1356 p.D452 0.000 pfscan_UBX pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 145 0 0 83 13 13.5417 RCC1 0 genome.wustl.edu 37 1 28863317 28863317 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 28863317 28863317 T C SNP RCC1 ENST00000373831 human ensembl 74_37 +1 known silent c.1089 p.A363 0.871 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 174 0 0 112 7 5.88235 OPRD1 0 genome.wustl.edu 37 1 29189495 29189495 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 29189495 29189495 T C SNP OPRD1 ENST00000234961 human ensembl 74_37 +1 known silent c.819 p.C273 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt - no_errors OPRD1 HGNC ENSG00000116329 24 0 0 10 5 33.3333 TMEM200B 0 genome.wustl.edu 37 1 29447700 29447700 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 29447700 29447700 C T SNP TMEM200B ENST00000420504 human ensembl 74_37 -1 known missense c.641 p.R214H 0.998 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200B HGNC ENSG00000253304 50 0 0 27 3 10 KPNA6 0 genome.wustl.edu 37 1 32635611 32635611 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 32635611 32635611 G A SNP KPNA6 ENST00000545542 human ensembl 74_37 +1 known missense c.1388 p.R463H 1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 117 0 0 89 7 7.29167 RNF19B 0 genome.wustl.edu 37 1 33404024 33404024 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 33404024 33404024 T C SNP RNF19B ENST00000373456 human ensembl 74_37 -1 known missense c.1719 p.I573M 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 114 0 0 95 18 15.9292 CSMD2 0 genome.wustl.edu 37 1 33990501 33990501 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 33990501 33990501 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.10377 p.G3459 0.525 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 65 0 0 43 9 17.3077 GJB5 0 genome.wustl.edu 37 1 35223145 35223145 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 35223145 35223145 T C SNP GJB5 ENST00000338513 human ensembl 74_37 +1 known missense c.214 p.S72P 1.000 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311 - no_errors GJB5 HGNC ENSG00000189280 78 0 0 46 8 14.8148 DLGAP3 0 genome.wustl.edu 37 1 35370053 35370053 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 35370053 35370053 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known missense c.932 p.R311H 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 93 0 0 63 15 19.2308 DLGAP3 0 genome.wustl.edu 37 1 35370418 35370418 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 35370418 35370418 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known silent c.567 p.A189 0.270 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 59 0 0 33 10 23.2558 TPRG1L 0 genome.wustl.edu 37 1 3545105 3545105 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 3545105 3545105 T C SNP TPRG1L ENST00000378344 human ensembl 74_37 +1 known missense c.757 p.S253P 1.000 NULL pfam_Inositol_phosphatase - no_errors TPRG1L HGNC ENSG00000158109 54 0 0 31 6 16.2162 AGO4 0 genome.wustl.edu 37 1 36297173 36297173 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 36297173 36297173 G A SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known missense c.994 p.E332K 1.000 pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO4 HGNC ENSG00000134698 104 0 0 67 23 25.5556 ZC3H12A 0 genome.wustl.edu 37 1 37947263 37947263 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 37947263 37947263 C T SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known silent c.645 p.R215 0.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 157 0 0 123 10 7.5188 ZC3H12A 0 genome.wustl.edu 37 1 37949178 37949178 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 37949178 37949178 T A SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known missense c.1766 p.I589N 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 21 0 0 20 3 13.0435 MACF1 0 genome.wustl.edu 37 1 39798016 39798016 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 39798016 39798016 C T SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.5867 p.S1956L 0.010 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 69 0 0 68 11 13.9241 PABPC4 0 genome.wustl.edu 37 1 40030189 40030189 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 40030189 40030189 T C SNP PABPC4 ENST00000372858 human ensembl 74_37 -1 known missense c.1359 p.I453M 0.995 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4 HGNC ENSG00000090621 127 0 0 95 9 8.65385 HYI 0 genome.wustl.edu 37 1 43917058 43917058 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 43917058 43917058 C T SNP HYI ENST00000486909 human ensembl 74_37 -1 putative silent c.783 p.R261 0.000 superfamily_Xyl_isomerase-like_TIM-brl pfam_Xyl_isomerase-like_TIM-brl,superfamily_Xyl_isomerase-like_TIM-brl - no_errors HYI HGNC ENSG00000178922 128 0 0 73 13 15.1163 SLC6A9 0 genome.wustl.edu 37 1 44466616 44466616 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 44466616 44466616 T C SNP SLC6A9 ENST00000372306 human ensembl 74_37 -1 putative missense c.1447 p.S483G 0.000 pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 86 0 0 65 5 7.14286 FAF1 0 genome.wustl.edu 37 1 50956312 50956312 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 50956312 50956312 G A SNP FAF1 ENST00000371778 human ensembl 74_37 -1 known missense c.1601 p.A534V 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 179 0 0 133 26 16.3522 CDKN2C 0 genome.wustl.edu 37 1 51439924 51439924 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 51439924 51439924 A G SNP CDKN2C ENST00000262662 human ensembl 74_37 +1 known silent c.489 p.G163 0.975 smart_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2C HGNC ENSG00000123080 82 0 0 52 6 10.3448 DMRTB1 0 genome.wustl.edu 37 1 53930431 53930431 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 53930431 53930431 C T SNP DMRTB1 ENST00000371445 human ensembl 74_37 +1 known missense c.872 p.A291V 0.352 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 100 0 0 57 13 18.5714 ANGPTL3 0 genome.wustl.edu 37 1 63069985 63069985 + RNA SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 63069985 63069985 A C SNP ANGPTL3 ENST00000493994 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ANGPTL3 HGNC ENSG00000132855 17 0 0 14 10 41.6667 RAVER2 0 genome.wustl.edu 37 1 65280486 65280486 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 65280486 65280486 G A SNP RAVER2 ENST00000294428 human ensembl 74_37 +1 known missense c.1892 p.C631Y 0.965 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER2 HGNC ENSG00000162437 75 0 0 54 7 11.4754 JAK1 0 genome.wustl.edu 37 1 65307255 65307255 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 65307255 65307255 C T SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known silent c.2433 p.R811 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 140 0 0 77 16 17.2043 DNAJC11 0 genome.wustl.edu 37 1 6697386 6697386 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 6697386 6697386 T C SNP DNAJC11 ENST00000377577 human ensembl 74_37 -1 known missense c.1396 p.N466D 0.995 pfam_DnaJ-like_C11_C pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC11 HGNC ENSG00000007923 163 0 0 133 20 13.0719 DNAJC11 0 genome.wustl.edu 37 1 6714070 6714070 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 6714070 6714070 G A SNP DNAJC11 ENST00000377577 human ensembl 74_37 -1 known silent c.408 p.T136 0.988 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC11 HGNC ENSG00000007923 115 0 0 88 11 11.1111 C1orf173 0 genome.wustl.edu 37 1 75037669 75037669 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 75037669 75037669 T A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.3725 p.E1242V 0.027 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 81 0 0 74 8 9.7561 C1orf173 0 genome.wustl.edu 37 1 75097551 75097551 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 75097551 75097551 T G SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.665 p.Y222S 0.025 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 105 0 0 86 14 14 FUBP1 0 genome.wustl.edu 37 1 78429831 78429831 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 78429831 78429831 G A SNP FUBP1 ENST00000436586 human ensembl 74_37 -1 known silent c.1020 p.P340 0.991 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 162 0 0 154 18 10.4651 ENO1 0 genome.wustl.edu 37 1 8926353 8926353 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 8926353 8926353 G T SNP ENO1 ENST00000234590 human ensembl 74_37 -1 known missense c.652 p.L218M 1.000 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC ENSG00000074800 100 0 0 90 8 8.16327 LRRC8B 0 genome.wustl.edu 37 1 90049599 90049599 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 90049599 90049599 A G SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known missense c.1390 p.N464D 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 55 0 0 57 15 20.8333 HFM1 0 genome.wustl.edu 37 1 91784745 91784745 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 91784745 91784745 G A SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.2702 p.A901V 0.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 45 0 0 34 3 8.10811 LOXL4 0 genome.wustl.edu 37 10 100017803 100017803 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 100017803 100017803 A G SNP LOXL4 ENST00000260702 human ensembl 74_37 -1 known missense c.1040 p.V347A 0.994 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL4 HGNC ENSG00000138131 134 0 0 112 6 5.08475 NOLC1 0 genome.wustl.edu 37 10 103917033 103917033 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 103917033 103917033 G T SNP NOLC1 ENST00000405356 human ensembl 74_37 +1 known missense c.264 p.E88D 0.959 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 49 0 0 41 3 6.81818 SFXN2 0 genome.wustl.edu 37 10 104493348 104493348 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 104493348 104493348 T C SNP SFXN2 ENST00000369893 human ensembl 74_37 +1 known missense c.809 p.L270P 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC ENSG00000156398 122 0 0 87 18 17.1429 INA 0 genome.wustl.edu 37 10 105037208 105037208 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 105037208 105037208 G A SNP INA ENST00000369849 human ensembl 74_37 +1 known silent c.240 p.A80 0.998 pfam_Intermed_filament_DNA-bd pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors INA HGNC ENSG00000148798 36 0 0 36 9 20 BAG3 0 genome.wustl.edu 37 10 121436122 121436122 + Silent SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 121436122 121436122 C A SNP BAG3 ENST00000369085 human ensembl 74_37 +1 known silent c.1056 p.S352 0.457 NULL pfam_BAG_domain,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_BAG_domain,pfscan_BAG_domain,pfscan_WW_dom - no_errors BAG3 HGNC ENSG00000151929 198 0 0 156 20 11.3636 WDR11 0 genome.wustl.edu 37 10 122624600 122624600 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 122624600 122624600 A G SNP WDR11 ENST00000263461 human ensembl 74_37 +1 known missense c.755 p.Y252C 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 104 0 0 104 13 11.1111 DMBT1 0 genome.wustl.edu 37 10 124402699 124402699 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 124402699 124402699 C T SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.7027 p.R2343W 0.035 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 131 1 0.757576 112 6 5.08475 VENTX 0 genome.wustl.edu 37 10 135053206 135053206 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 135053206 135053206 C T SNP VENTX ENST00000325980 human ensembl 74_37 +1 known missense c.268 p.R90W 0.000 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors VENTX HGNC ENSG00000151650 48 0 0 41 9 18 BEND7 0 genome.wustl.edu 37 10 13542000 13542000 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 13542000 13542000 G T SNP BEND7 ENST00000396900 human ensembl 74_37 -1 known silent c.226 p.R76 1.000 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 193 0 0 191 13 6.37255 ITGA8 0 genome.wustl.edu 37 10 15646264 15646264 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 15646264 15646264 T G SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.2061 p.E687D 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 112 0 0 90 13 12.6214 MASTL 0 genome.wustl.edu 37 10 27459035 27459035 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 27459035 27459035 C T SNP MASTL ENST00000375940 human ensembl 74_37 +1 known missense c.1147 p.R383C 0.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MASTL HGNC ENSG00000120539 140 0 0 128 22 14.6667 C10orf68 0 genome.wustl.edu 37 10 33165293 33165293 + Missense_Mutation SNP G G C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 33165293 33165293 G C SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.2051 p.R684P 0.033 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 60 0 0 64 9 12.3288 CREM 0 genome.wustl.edu 37 10 35495831 35495831 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 35495831 35495831 G A SNP CREM ENST00000395895 human ensembl 74_37 +1 known missense c.790 p.G264S 1.000 prints_Leuzip_CREB pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREM HGNC ENSG00000095794 206 0 0 251 22 8.05861 ZNF37A 0 genome.wustl.edu 37 10 38406457 38406457 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 38406457 38406457 C T SNP ZNF37A ENST00000351773 human ensembl 74_37 +1 known silent c.378 p.S126 0.001 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 ZNF37A HGNC ENSG00000075407 164 0 0 128 10 7.24638 ZNF37A 0 genome.wustl.edu 37 10 38406869 38406869 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 38406869 38406869 A G SNP ZNF37A ENST00000351773 human ensembl 74_37 +1 known missense c.790 p.T264A 0.999 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 ZNF37A HGNC ENSG00000075407 95 0 0 139 12 7.94702 ENSG00000234864 0 genome.wustl.edu 37 10 43197634 43197634 + RNA SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 43197634 43197634 G T SNP ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 20 0 0 21 7 25 AGAP10 0 genome.wustl.edu 37 10 47207813 47207813 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 47207813 47207813 T C SNP AGAP10 ENST00000413193 human ensembl 74_37 -1 known missense c.683 p.H228R 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP10 HGNC ENSG00000204172 14 0 0 27 5 15.625 CCDC6 0 genome.wustl.edu 37 10 61572399 61572399 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 61572399 61572399 A G SNP CCDC6 ENST00000263102 human ensembl 74_37 -1 known silent c.841 p.L281 0.994 pfam_DUF2046 pfam_DUF2046 - no_errors CCDC6 HGNC ENSG00000108091 97 0 0 93 14 13.0841 ANK3 0 genome.wustl.edu 37 10 61829483 61829483 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 61829483 61829483 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.11156 p.R3719H 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 200 0 0 215 26 10.7884 PFKFB3 0 genome.wustl.edu 37 10 6255618 6255618 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 6255618 6255618 G A SNP PFKFB3 ENST00000540253 human ensembl 74_37 +1 known missense c.151 p.V51I 1.000 pfam_6Phosfructo_kin,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB3 HGNC ENSG00000170525 203 0 0 195 22 10.1382 TMEM26 0 genome.wustl.edu 37 10 63170263 63170263 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 63170263 63170263 T C SNP TMEM26 ENST00000399298 human ensembl 74_37 -1 known silent c.924 p.A308 0.000 NULL pfam_Transmembrane_26 - no_errors TMEM26 HGNC ENSG00000196932 102 0 0 86 17 16.5049 PRKCQ 0 genome.wustl.edu 37 10 6557032 6557032 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 6557032 6557032 G A SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known silent c.66 p.G22 0.902 superfamily_C2_dom,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 100 1 0.990099 116 8 6.45161 MYPN 0 genome.wustl.edu 37 10 69948695 69948695 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 69948695 69948695 A G SNP MYPN ENST00000358913 human ensembl 74_37 +1 known missense c.2737 p.M913V 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 36 0 0 34 3 8.10811 MYPN 0 genome.wustl.edu 37 10 69957155 69957155 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 69957155 69957155 C T SNP MYPN ENST00000358913 human ensembl 74_37 +1 known missense c.3205 p.R1069C 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 190 0 0 139 18 11.465 TET1 0 genome.wustl.edu 37 10 70406188 70406188 + Silent SNP A A T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 70406188 70406188 A T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known silent c.3702 p.T1234 0.005 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 70 0 0 68 9 11.6883 TET1 0 genome.wustl.edu 37 10 70406221 70406221 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 70406221 70406221 G T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.3735 p.Q1245H 0.323 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 85 0 0 73 13 15.1163 SFMBT2 0 genome.wustl.edu 37 10 7213964 7213964 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 7213964 7213964 C T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.2308 p.V770M 0.002 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 18 0 0 7 3 30 SPOCK2 0 genome.wustl.edu 37 10 73823934 73823934 + Splice_Site SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 73823934 73823934 A G SNP SPOCK2 ENST00000317376 human ensembl 74_37 -1 known splice_site c.991+2 e9+2 1.000 - - - no_errors SPOCK2 HGNC ENSG00000107742 27 0 0 20 4 16.6667 USP54 0 genome.wustl.edu 37 10 75276635 75276635 + Missense_Mutation SNP C C G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 75276635 75276635 C G SNP USP54 ENST00000339859 human ensembl 74_37 -1 known missense c.3549 p.W1183C 0.987 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 256 0 0 241 15 5.85938 ENSG00000232342 0 genome.wustl.edu 37 10 76287717 76287717 + RNA SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 76287717 76287717 G A SNP ENSG00000232342 ENST00000448214 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-46O21.2 Clone_based_vega_gene ENSG00000232342 23 0 0 20 5 20 SFTPA2 0 genome.wustl.edu 37 10 81317025 81317025 + Silent SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 81317025 81317025 T G SNP SFTPA2 ENST00000372325 human ensembl 74_37 -1 known silent c.687 p.T229 0.993 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 SFTPA2 HGNC ENSG00000185303 199 0 0 125 35 21.875 WAPAL 0 genome.wustl.edu 37 10 88213061 88213061 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 88213061 88213061 G A SNP WAPAL ENST00000298767 human ensembl 74_37 -1 known silent c.2865 p.D955 0.993 pfam_WAPL_prot,superfamily_ARM-type_fold pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 79 0 0 63 14 18.1818 LDB3 0 genome.wustl.edu 37 10 88446842 88446842 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 88446842 88446842 C T SNP LDB3 ENST00000429277 human ensembl 74_37 +1 known missense c.706 p.R236C 0.997 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC ENSG00000122367 402 0 0 261 41 13.5762 PAPSS2 0 genome.wustl.edu 37 10 89468995 89468995 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 89468995 89468995 C A SNP PAPSS2 ENST00000456849 human ensembl 74_37 +1 known missense c.70 p.H24N 1.000 superfamily_P-loop_NTPase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC ENSG00000198682 111 0 0 100 10 9.09091 BTAF1 0 genome.wustl.edu 37 10 93770836 93770836 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 93770836 93770836 G T SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known missense c.4110 p.Q1370H 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 85 0 0 64 12 15.7895 SORBS1 0 genome.wustl.edu 37 10 97194454 97194454 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 97194454 97194454 C T SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known missense c.97 p.A33T 0.986 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 70 0 0 62 7 10.1449 ENTPD1 0 genome.wustl.edu 37 10 97605200 97605200 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 97605200 97605200 A C SNP ENTPD1 ENST00000371207 human ensembl 74_37 +1 known missense c.696 p.Q232H 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD1 HGNC ENSG00000138185 194 0 0 186 13 6.53266 POU2AF1 0 genome.wustl.edu 37 11 111229625 111229625 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 111229625 111229625 G A SNP POU2AF1 ENST00000393067 human ensembl 74_37 -1 known missense c.35 p.A12V 0.928 pfam_PD-C2-AF1 pfam_PD-C2-AF1 - no_errors POU2AF1 HGNC ENSG00000110777 44 0 0 40 4 9.09091 ZW10 0 genome.wustl.edu 37 11 113630950 113630950 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 113630950 113630950 C A SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known missense c.561 p.W187C 1.000 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 67 0 0 54 7 11.4754 GALNT18 0 genome.wustl.edu 37 11 11400810 11400810 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 11400810 11400810 C A SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.597 p.E199D 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 86 0 0 56 5 8.19672 NXPE4 0 genome.wustl.edu 37 11 114453402 114453402 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 114453402 114453402 C T SNP NXPE4 ENST00000375478 human ensembl 74_37 -1 known silent c.438 p.A146 0.212 pfam_NXPH/NXPE,superfamily_Ig_E-set pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE4 HGNC ENSG00000137634 70 0 0 36 8 18.1818 DSCAML1 0 genome.wustl.edu 37 11 117374715 117374715 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 117374715 117374715 T C SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.2384 p.Y795C 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 111 0 0 55 16 22.5352 KMT2A 0 genome.wustl.edu 37 11 118371815 118371815 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 118371815 118371815 A G SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.6263 p.E2088G 0.829 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 KMT2A HGNC ENSG00000118058 77 0 0 76 8 9.52381 BCL9L 0 genome.wustl.edu 37 11 118769523 118769523 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 118769523 118769523 C T SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known silent c.4101 p.A1367 0.996 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 65 0 0 60 4 6.25 BCL9L 0 genome.wustl.edu 37 11 118779232 118779232 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 118779232 118779232 G A SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known silent c.159 p.G53 0.995 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 161 0 0 146 9 5.80645 ABCG4 0 genome.wustl.edu 37 11 119031359 119031359 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 119031359 119031359 T C SNP ABCG4 ENST00000307417 human ensembl 74_37 +1 known missense c.1708 p.Y570H 1.000 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG4 HGNC ENSG00000172350 255 0 0 239 35 12.7737 TECTA 0 genome.wustl.edu 37 11 120983879 120983879 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 120983879 120983879 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.585 p.G195 0.002 pfam_Nidogen_extracell_dom,smart_Nidogen_extracell_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 123 0 0 92 7 7.07071 TECTA 0 genome.wustl.edu 37 11 120998992 120998992 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 120998992 120998992 T A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.2306 p.L769H 0.616 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 97 0 0 55 15 21.4286 MICAL2 0 genome.wustl.edu 37 11 12225943 12225943 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 12225943 12225943 T C SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known silent c.411 p.L137 0.992 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 111 0 0 91 9 9 C11orf63 0 genome.wustl.edu 37 11 122756782 122756782 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 122756782 122756782 C T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known silent c.225 p.D75 0.982 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 151 1 0.657895 83 71 46.1039 C11orf63 0 genome.wustl.edu 37 11 122774668 122774668 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 122774668 122774668 G A SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.380 p.R127H 0.799 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 272 0 0 231 37 13.806 OR10G9 0 genome.wustl.edu 37 11 123894413 123894413 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 123894413 123894413 G T SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known missense c.694 p.G232W 0.053 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 127 0 0 97 7 6.73077 CDON 0 genome.wustl.edu 37 11 125851195 125851195 + Nonsense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 125851195 125851195 C A SNP CDON ENST00000392693 human ensembl 74_37 -1 known nonsense c.3025 p.G1009* 0.964 NULL 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_dom - no_errors CDON HGNC ENSG00000064309 113 0 0 86 9 9.47368 SRPR 0 genome.wustl.edu 37 11 126136744 126136744 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 126136744 126136744 G A SNP SRPR ENST00000332118 human ensembl 74_37 -1 known silent c.600 p.N200 0.983 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 121 0 0 111 15 11.9048 ST3GAL4 0 genome.wustl.edu 37 11 126278372 126278372 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 126278372 126278372 T C SNP ST3GAL4 ENST00000356132 human ensembl 74_37 +1 known missense c.626 p.I209T 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL4 HGNC ENSG00000110080 56 0 0 43 3 6.52174 BRSK2 0 genome.wustl.edu 37 11 1477636 1477636 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 1477636 1477636 C A SNP BRSK2 ENST00000382179 human ensembl 74_37 +1 known missense c.1865 p.A622D 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BRSK2 HGNC ENSG00000174672 24 0 0 17 5 22.7273 PDE3B 0 genome.wustl.edu 37 11 14793532 14793532 + Missense_Mutation SNP A A T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 14793532 14793532 A T SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.1028 p.Q343L 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 53 0 0 41 6 12.766 SLC6A5 0 genome.wustl.edu 37 11 20628577 20628577 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 20628577 20628577 T A SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known missense c.704 p.M235K 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 95 0 0 55 19 25.6757 RIC8A 0 genome.wustl.edu 37 11 214246 214246 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 214246 214246 C T SNP RIC8A ENST00000325207 human ensembl 74_37 +1 known missense c.1510 p.P504S 1.000 pfam_Gua_nucleotide_exch_fac_Ric8 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8A HGNC ENSG00000177963 34 0 0 29 4 12.1212 NELL1 0 genome.wustl.edu 37 11 21594807 21594807 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 21594807 21594807 G A SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.2234 p.C745Y 1.000 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 121 0 0 67 18 21.1765 TCP11L1 0 genome.wustl.edu 37 11 33083248 33083248 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 33083248 33083248 C T SNP TCP11L1 ENST00000527661 human ensembl 74_37 +1 known silent c.948 p.D316 1.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L1 HGNC ENSG00000176148 58 0 0 29 4 12.1212 CHST1 0 genome.wustl.edu 37 11 45672305 45672305 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 45672305 45672305 G T SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.169 p.L57I 0.997 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 96 0 0 67 14 17.284 CKAP5 0 genome.wustl.edu 37 11 46812089 46812089 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 46812089 46812089 G A SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known silent c.1695 p.G565 0.000 NULL pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 72 0 0 62 11 15.0685 FNBP4 0 genome.wustl.edu 37 11 47753971 47753971 + RNA SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 47753971 47753971 C T SNP FNBP4 ENST00000534003 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FNBP4 HGNC ENSG00000109920 59 0 0 39 8 17.0213 OR4C13 0 genome.wustl.edu 37 11 49974000 49974000 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 49974000 49974000 A G SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known missense c.26 p.E9G 0.898 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 133 0 0 49 22 30.9859 OR4C12 0 genome.wustl.edu 37 11 50003299 50003299 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 50003299 50003299 A C SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known missense c.739 p.L247V 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 70 0 0 30 12 28.5714 OR52D1 0 genome.wustl.edu 37 11 5510028 5510028 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 5510028 5510028 C T SNP OR52D1 ENST00000322641 human ensembl 74_37 +1 known missense c.92 p.A31V 0.029 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC ENSG00000181609 124 0 0 93 18 16.2162 OR8K1 0 genome.wustl.edu 37 11 56113902 56113902 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 56113902 56113902 G A SNP OR8K1 ENST00000279783 human ensembl 74_37 +1 known missense c.388 p.V130I 0.998 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 OR8K1 HGNC ENSG00000150261 237 0 0 158 9 5.38922 OR5R1 0 genome.wustl.edu 37 11 56184755 56184755 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 56184755 56184755 T A SNP OR5R1 ENST00000312253 human ensembl 74_37 -1 known missense c.954 p.L318F 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 26 0 0 19 4 17.3913 OR5B2 0 genome.wustl.edu 37 11 58190401 58190401 + Missense_Mutation SNP A A T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 58190401 58190401 A T SNP OR5B2 ENST00000302581 human ensembl 74_37 -1 known missense c.334 p.L112M 0.000 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 OR5B2 HGNC ENSG00000172365 111 0 0 71 33 31.7308 OR56A3 0 genome.wustl.edu 37 11 5969479 5969479 + Missense_Mutation SNP A A T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 5969479 5969479 A T SNP OR56A3 ENST00000329564 human ensembl 74_37 +1 known missense c.903 p.Q301H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A3 HGNC ENSG00000184478 97 0 0 60 45 42.8571 OR56A4 0 genome.wustl.edu 37 11 6023669 6023669 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 6023669 6023669 A G SNP OR56A4 ENST00000330728 human ensembl 74_37 -1 known missense c.710 p.L237P 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A4 HGNC ENSG00000183389 47 0 0 45 10 18.1818 DAGLA 0 genome.wustl.edu 37 11 61490943 61490943 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 61490943 61490943 G A SNP DAGLA ENST00000540717 human ensembl 74_37 +1 known missense c.424 p.V142M 0.961 NULL NULL - no_errors DAGLA HGNC ENSG00000134780 201 0 0 121 19 13.5714 TUT1 0 genome.wustl.edu 37 11 62358925 62358925 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 62358925 62358925 C T SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known silent c.147 p.L49 1.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 87 0 0 60 12 16.6667 C11orf68 0 genome.wustl.edu 37 11 65685438 65685438 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 65685438 65685438 C A SNP C11orf68 ENST00000438576 human ensembl 74_37 -1 known missense c.374 p.G125V 1.000 pfam_DUF1917,superfamily_TIF_eIF4e-like_dom pfam_DUF1917,superfamily_TIF_eIF4e-like_dom - no_errors C11orf68 HGNC ENSG00000175573 69 0 0 40 12 23.0769 RBM4 0 genome.wustl.edu 37 11 66407488 66407488 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 66407488 66407488 T C SNP RBM4 ENST00000310092 human ensembl 74_37 +1 known silent c.306 p.G102 0.968 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 223 0 0 167 18 9.72973 DCHS1 0 genome.wustl.edu 37 11 6662259 6662259 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 6662259 6662259 G A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.586 p.R196C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 102 0 0 86 6 6.52174 KDM2A 0 genome.wustl.edu 37 11 67018182 67018182 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 67018182 67018182 A G SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known missense c.2681 p.Q894R 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 121 0 0 86 5 5.49451 SSH3 0 genome.wustl.edu 37 11 67076921 67076921 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 67076921 67076921 G A SNP SSH3 ENST00000308127 human ensembl 74_37 +1 known missense c.1115 p.R372H 0.993 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 109 0 0 95 6 5.94059 PITPNM1 0 genome.wustl.edu 37 11 67270120 67270120 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 67270120 67270120 C A SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.148 p.D50Y 1.000 pfam_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 124 0 0 97 10 9.34579 PITPNM1 0 genome.wustl.edu 37 11 67270134 67270134 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 67270134 67270134 T G SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.134 p.N45T 1.000 pfam_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 124 0 0 96 6 5.88235 RNF169 0 genome.wustl.edu 37 11 74546898 74546898 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 74546898 74546898 G A SNP RNF169 ENST00000299563 human ensembl 74_37 +1 known missense c.1250 p.S417N 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF169 HGNC ENSG00000166439 133 0 0 124 8 6.06061 NEU3 0 genome.wustl.edu 37 11 74716711 74716711 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 74716711 74716711 A G SNP NEU3 ENST00000294064 human ensembl 74_37 +1 known missense c.560 p.K187R 0.746 superfamily_Sialidases superfamily_Sialidases - no_errors NEU3 HGNC ENSG00000162139 131 0 0 115 13 10.1562 PIDD 0 genome.wustl.edu 37 11 800377 800377 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 800377 800377 C T SNP PIDD ENST00000347755 human ensembl 74_37 -1 known missense c.2116 p.V706M 1.000 NULL pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 66 0 0 57 11 16.1765 FAM71C 0 genome.wustl.edu 37 12 100042081 100042081 + Silent SNP A A T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 100042081 100042081 A T SNP FAM71C ENST00000324341 human ensembl 74_37 +1 known silent c.129 p.A43 0.238 NULL pfam_DUF3699 - no_errors FAM71C HGNC ENSG00000180219 126 0 0 104 7 6.30631 NUAK1 0 genome.wustl.edu 37 12 106461727 106461727 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 106461727 106461727 C T SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.839 p.R280Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 72 0 0 61 7 10.2941 POLR3B 0 genome.wustl.edu 37 12 106827564 106827564 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 106827564 106827564 A G SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known silent c.1695 p.A565 0.950 pfam_RNA_pol_Rpb2_4 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 72 0 0 54 20 27.027 STYK1 0 genome.wustl.edu 37 12 10786645 10786645 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 10786645 10786645 A G SNP STYK1 ENST00000075503 human ensembl 74_37 -1 known missense c.131 p.I44T 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STYK1 HGNC ENSG00000060140 271 0 0 151 14 8.48485 TBX5 0 genome.wustl.edu 37 12 114841616 114841616 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 114841616 114841616 T C SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.88 p.S30G 0.019 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 102 1 0.970874 93 7 7 DIABLO 0 genome.wustl.edu 37 12 122709224 122709224 + Missense_Mutation SNP A A T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 122709224 122709224 A T SNP DIABLO ENST00000342392 human ensembl 74_37 -1 known missense c.122 p.V41D 0.002 NULL NULL - no_errors DIABLO HGNC ENSG00000184047 59 0 0 53 6 10.1695 ANKLE2 0 genome.wustl.edu 37 12 133306511 133306511 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 133306511 133306511 C T SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known missense c.2237 p.R746H 0.000 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 125 0 0 59 37 38.5417 PDE6H 0 genome.wustl.edu 37 12 15130994 15130994 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 15130994 15130994 T C SNP PDE6H ENST00000266395 human ensembl 74_37 +1 known silent c.48 p.P16 0.651 pfam_PDE6_gamma,pirsf_PDE6_gamma pfam_PDE6_gamma,pirsf_PDE6_gamma - no_errors PDE6H HGNC ENSG00000139053 43 0 0 30 5 14.2857 SOX5 0 genome.wustl.edu 37 12 23999114 23999114 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 23999114 23999114 T C SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.284 p.N95S 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 66 0 0 46 13 22.0339 PPFIBP1 0 genome.wustl.edu 37 12 27834507 27834507 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 27834507 27834507 A G SNP PPFIBP1 ENST00000318304 human ensembl 74_37 +1 known missense c.1942 p.T648A 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 169 0 0 112 12 9.67742 SLC6A13 0 genome.wustl.edu 37 12 333661 333661 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 333661 333661 A G SNP SLC6A13 ENST00000343164 human ensembl 74_37 -1 known missense c.1079 p.I360T 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 65 0 0 39 5 11.3636 CNTN1 0 genome.wustl.edu 37 12 41327326 41327326 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 41327326 41327326 G A SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.767 p.G256D 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 183 0 0 170 32 15.8416 PRICKLE1 0 genome.wustl.edu 37 12 42858731 42858731 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 42858731 42858731 C T SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.1105 p.D369N 0.999 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 88 0 0 76 6 7.31707 SLC38A2 0 genome.wustl.edu 37 12 46761150 46761150 + RNA SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 46761150 46761150 G T SNP SLC38A2 ENST00000548870 human ensembl 74_37 -1 known rna NULL NULL 0.227 - - - no_errors SLC38A2 HGNC ENSG00000134294 75 0 0 57 18 24 PFKM 0 genome.wustl.edu 37 12 48534510 48534510 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 48534510 48534510 T C SNP PFKM ENST00000312352 human ensembl 74_37 +1 known silent c.1197 p.G399 0.000 superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKM HGNC ENSG00000152556 102 0 0 115 7 5.7377 PRKAG1 0 genome.wustl.edu 37 12 49406895 49406895 + Splice_Site SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 49406895 49406895 T C SNP PRKAG1 ENST00000548065 human ensembl 74_37 -1 known splice_site c.10-2 e2-2 0.990 - - - no_errors PRKAG1 HGNC ENSG00000181929 66 0 0 57 4 6.55738 PRPH 0 genome.wustl.edu 37 12 49690007 49690007 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 49690007 49690007 G A SNP PRPH ENST00000257860 human ensembl 74_37 +1 known missense c.592 p.V198M 1.000 pfam_IF,prints_Keratin_I pfam_IF,pfam_Intermed_filament_DNA-bd,prints_Keratin_I - no_errors PRPH HGNC ENSG00000135406 29 0 0 25 4 13.7931 LIMA1 0 genome.wustl.edu 37 12 50575791 50575791 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 50575791 50575791 G A SNP LIMA1 ENST00000394943 human ensembl 74_37 -1 known silent c.1173 p.C391 0.197 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 75 0 0 95 15 13.6364 SCN8A 0 genome.wustl.edu 37 12 52200910 52200910 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 52200910 52200910 A G SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known silent c.5640 p.K1880 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 236 0 0 192 27 12.3288 KRT2 0 genome.wustl.edu 37 12 53040639 53040639 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 53040639 53040639 C A SNP KRT2 ENST00000309680 human ensembl 74_37 -1 known missense c.1354 p.A452S 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 126 0 0 132 21 13.7255 GLS2 0 genome.wustl.edu 37 12 56872948 56872948 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 56872948 56872948 A G SNP GLS2 ENST00000311966 human ensembl 74_37 -1 known missense c.422 p.I141T 1.000 NULL pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC ENSG00000135423 74 0 0 48 6 11.1111 PTGES3 0 genome.wustl.edu 37 12 57064084 57064084 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 57064084 57064084 A G SNP PTGES3 ENST00000262033 human ensembl 74_37 -1 known missense c.350 p.M117T 1.000 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors PTGES3 HGNC ENSG00000110958 71 0 0 63 4 5.97015 ZBTB39 0 genome.wustl.edu 37 12 57396722 57396722 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 57396722 57396722 C T SNP ZBTB39 ENST00000300101 human ensembl 74_37 -1 known missense c.1980 p.M660I 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB39 HGNC ENSG00000166860 121 0 0 90 8 8.16327 CYP27B1 0 genome.wustl.edu 37 12 58158953 58158953 + Nonsense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 58158953 58158953 C A SNP CYP27B1 ENST00000228606 human ensembl 74_37 -1 known nonsense c.631 p.E211* 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27B1 HGNC ENSG00000111012 35 0 0 27 3 10 LRIG3 0 genome.wustl.edu 37 12 59308081 59308081 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 59308081 59308081 T C SNP LRIG3 ENST00000320743 human ensembl 74_37 -1 known silent c.273 p.A91 0.988 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG3 HGNC ENSG00000139263 137 0 0 109 21 16.1538 FAM19A2 0 genome.wustl.edu 37 12 62148754 62148754 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 62148754 62148754 C T SNP FAM19A2 ENST00000416284 human ensembl 74_37 -1 known missense c.158 p.C53Y 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A2 HGNC ENSG00000198673 57 0 0 47 4 7.84314 ENO2 0 genome.wustl.edu 37 12 7031296 7031296 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 7031296 7031296 C T SNP ENO2 ENST00000229277 human ensembl 74_37 +1 known missense c.1145 p.A382V 1.000 pfam_Enolase_C,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO2 HGNC ENSG00000111674 105 0 0 47 9 16.0714 LGR5 0 genome.wustl.edu 37 12 71833904 71833904 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 71833904 71833904 T C SNP LGR5 ENST00000266674 human ensembl 74_37 +1 known missense c.44 p.L15P 0.886 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 90 0 0 94 10 9.61538 KCNC2 0 genome.wustl.edu 37 12 75436122 75436122 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 75436122 75436122 T G SNP KCNC2 ENST00000298972 human ensembl 74_37 -1 known missense c.1813 p.T605P 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 75 0 0 64 12 15.7895 CAPS2 0 genome.wustl.edu 37 12 75692521 75692521 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 75692521 75692521 A G SNP CAPS2 ENST00000409445 human ensembl 74_37 -1 known silent c.1047 p.S349 0.818 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CAPS2 HGNC ENSG00000180881 56 0 0 45 7 13.4615 OTOGL 0 genome.wustl.edu 37 12 80722526 80722526 + Splice_Site SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 80722526 80722526 T G SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known splice_site c.4252+2 e35+2 1.000 - - - no_errors OTOGL HGNC ENSG00000165899 15 0 0 18 3 14.2857 RIMKLB 0 genome.wustl.edu 37 12 8904616 8904616 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 8904616 8904616 T G SNP RIMKLB ENST00000357529 human ensembl 74_37 +1 known missense c.470 p.V157G 1.000 pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC ENSG00000166532 191 0 0 95 21 18.1034 PCCA 0 genome.wustl.edu 37 13 100909900 100909900 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 100909900 100909900 G A SNP PCCA ENST00000376285 human ensembl 74_37 +1 known missense c.689 p.R230H 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 44 0 0 38 7 15.5556 CRYL1 0 genome.wustl.edu 37 13 20978274 20978274 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 20978274 20978274 G T SNP CRYL1 ENST00000298248 human ensembl 74_37 -1 known silent c.954 p.P318 0.591 NULL pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors CRYL1 HGNC ENSG00000165475 109 0 0 110 7 5.98291 TPTE2P6 0 genome.wustl.edu 37 13 25168501 25168501 + RNA SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 25168501 25168501 G A SNP TPTE2P6 ENST00000440905 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors TPTE2P6 HGNC ENSG00000205822 42 0 0 38 3 7.31707 RNF6 0 genome.wustl.edu 37 13 26788301 26788301 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 26788301 26788301 T G SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known missense c.1718 p.N573T 0.982 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 174 0 0 150 19 11.2426 USPL1 0 genome.wustl.edu 37 13 31205337 31205337 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 31205337 31205337 A C SNP USPL1 ENST00000255304 human ensembl 74_37 +1 known missense c.594 p.R198S 0.000 NULL pfscan_Peptidase_C19/C67 - no_errors USPL1 HGNC ENSG00000132952 165 1 0.60241 126 18 12.5 USPL1 0 genome.wustl.edu 37 13 31232640 31232640 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 31232640 31232640 G A SNP USPL1 ENST00000255304 human ensembl 74_37 +1 known missense c.2426 p.S809N 0.000 NULL pfscan_Peptidase_C19/C67 - no_errors USPL1 HGNC ENSG00000132952 84 0 0 69 5 6.75676 SMAD9 0 genome.wustl.edu 37 13 37446863 37446863 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 37446863 37446863 G A SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known missense c.602 p.P201L 1.000 NULL pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 85 0 0 59 7 10.6061 VWA8 0 genome.wustl.edu 37 13 42267046 42267046 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 42267046 42267046 G A SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known silent c.3627 p.S1209 0.001 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 59 0 0 37 2 5.12821 PHF11 0 genome.wustl.edu 37 13 50095043 50095043 + Nonsense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 50095043 50095043 C T SNP PHF11 ENST00000378319 human ensembl 74_37 +1 known nonsense c.472 p.Q158* 0.263 smart_Znf_PHD superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF11 HGNC ENSG00000136147 47 0 0 42 5 10.6383 THSD1 0 genome.wustl.edu 37 13 52952670 52952670 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 52952670 52952670 A G SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1435 p.S479P 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 75 0 0 60 4 6.25 EDNRB 0 genome.wustl.edu 37 13 78477385 78477385 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 78477385 78477385 T G SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.707 p.E236A 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 198 1 0.502513 136 21 13.3758 FARP1 0 genome.wustl.edu 37 13 99100538 99100538 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 99100538 99100538 C T SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known silent c.3198 p.H1066 0.001 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 120 1 0.826446 103 9 8.03571 DYNC1H1 0 genome.wustl.edu 37 14 102505767 102505767 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 102505767 102505767 T C SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.11479 p.Y3827H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 80 0 0 54 10 15.625 KIF26A 0 genome.wustl.edu 37 14 104641626 104641626 + Missense_Mutation SNP A A T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 104641626 104641626 A T SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.2501 p.D834V 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 41 0 0 17 3 15 AHNAK2 0 genome.wustl.edu 37 14 105414753 105414753 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 105414753 105414753 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.7035 p.A2345 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 269 1 0.37037 225 31 12.1094 OR4K14 0 genome.wustl.edu 37 14 20483284 20483284 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 20483284 20483284 A G SNP OR4K14 ENST00000305045 human ensembl 74_37 -1 known silent c.69 p.L23 0.027 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K14 HGNC ENSG00000169484 76 0 0 48 13 21.3115 CHD8 0 genome.wustl.edu 37 14 21896152 21896152 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 21896152 21896152 G A SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.1477 p.R493W 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 85 0 0 41 28 40.5797 MYH6 0 genome.wustl.edu 37 14 23874886 23874886 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 23874886 23874886 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.295 p.P99S 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 109 0 0 41 11 21.1538 SCFD1 0 genome.wustl.edu 37 14 31119854 31119854 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 31119854 31119854 C T SNP SCFD1 ENST00000458591 human ensembl 74_37 +1 known silent c.753 p.F251 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD1 HGNC ENSG00000092108 76 0 0 36 3 7.69231 BAZ1A 0 genome.wustl.edu 37 14 35264077 35264077 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 35264077 35264077 G T SNP BAZ1A ENST00000360310 human ensembl 74_37 -1 known missense c.1241 p.T414K 0.998 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 98 0 0 68 10 12.8205 KLHL28 0 genome.wustl.edu 37 14 45398293 45398293 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 45398293 45398293 T G SNP KLHL28 ENST00000396128 human ensembl 74_37 -1 known missense c.1654 p.T552P 0.913 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 211 0 0 163 10 5.78035 DACT1 0 genome.wustl.edu 37 14 59113504 59113504 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 59113504 59113504 T C SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known silent c.2163 p.A721 1.000 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 103 0 0 63 6 8.69565 JKAMP 0 genome.wustl.edu 37 14 59954418 59954418 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 59954418 59954418 T A SNP JKAMP ENST00000356057 human ensembl 74_37 +1 known missense c.147 p.N49K 0.982 pfam_DUF766 pfam_DUF766 - no_errors JKAMP HGNC ENSG00000050130 172 0 0 132 12 8.33333 KCNH5 0 genome.wustl.edu 37 14 63483580 63483580 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 63483580 63483580 C T SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.166 p.A56T 1.000 pfam_PAS_fold,superfamily_PAS,tigrfam_PAS pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 92 0 0 64 6 8.57143 ZBTB1 0 genome.wustl.edu 37 14 64988534 64988534 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 64988534 64988534 A G SNP ZBTB1 ENST00000394712 human ensembl 74_37 +1 known silent c.312 p.L104 0.754 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 122 0 0 109 6 5.21739 RAB15 0 genome.wustl.edu 37 14 65419254 65419254 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 65419254 65419254 C A SNP RAB15 ENST00000533601 human ensembl 74_37 -1 known missense c.160 p.G54C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB15 HGNC ENSG00000139998 102 0 0 97 7 6.73077 ENSG00000259648 0 genome.wustl.edu 37 14 68082266 68082266 + RNA SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 68082266 68082266 T G SNP ENSG00000259648 ENST00000559968 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 35 0 0 21 14 40 EXD2 0 genome.wustl.edu 37 14 69707665 69707665 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 69707665 69707665 C A SNP EXD2 ENST00000312994 human ensembl 74_37 +1 known missense c.1714 p.L572M 1.000 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD2 HGNC ENSG00000081177 40 0 0 29 4 12.1212 SYNDIG1L 0 genome.wustl.edu 37 14 74874344 74874344 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 74874344 74874344 C T SNP SYNDIG1L ENST00000331628 human ensembl 74_37 -1 known missense c.611 p.R204H 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors SYNDIG1L HGNC ENSG00000183379 166 0 0 91 14 13.3333 ALKBH1 0 genome.wustl.edu 37 14 78140225 78140225 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 78140225 78140225 G A SNP ALKBH1 ENST00000216489 human ensembl 74_37 -1 known missense c.1100 p.T367I 0.000 NULL tigrfam_Alkb - no_errors ALKBH1 HGNC ENSG00000100601 153 0 0 94 7 6.93069 BTBD7 0 genome.wustl.edu 37 14 93717898 93717898 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 93717898 93717898 G A SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known missense c.1853 p.A618V 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 227 1 0.438596 160 25 13.5135 TARSL2 0 genome.wustl.edu 37 15 102211872 102211872 + Splice_Site SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 102211872 102211872 A G SNP TARSL2 ENST00000335968 human ensembl 74_37 -1 known splice_site c.1866+2 e14+2 1.000 - - - no_errors TARSL2 HGNC ENSG00000185418 67 0 0 47 9 16.0714 NDNL2 0 genome.wustl.edu 37 15 29561233 29561233 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 29561233 29561233 T C SNP NDNL2 ENST00000332303 human ensembl 74_37 -1 known missense c.677 p.D226G 0.570 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDNL2 HGNC ENSG00000185115 120 1 0.826446 106 13 10.9244 TJP1 0 genome.wustl.edu 37 15 30019143 30019143 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 30019143 30019143 T C SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.2153 p.Y718C 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 153 0 0 96 18 15.7895 GOLGA8H 0 genome.wustl.edu 37 15 30900698 30900698 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 30900698 30900698 A G SNP GOLGA8H ENST00000566740 human ensembl 74_37 +1 novel missense c.425 p.K142R 0.055 NULL NULL - no_errors GOLGA8H HGNC ENSG00000261794 35 0 0 30 13 30.2326 AQR 0 genome.wustl.edu 37 15 35176884 35176884 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 35176884 35176884 T C SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.2869 p.T957A 0.001 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 68 0 0 49 7 12.5 SPRED1 0 genome.wustl.edu 37 15 38632046 38632046 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 38632046 38632046 T C SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known missense c.532 p.F178L 0.999 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 70 0 0 47 9 16.0714 VPS18 0 genome.wustl.edu 37 15 41192972 41192972 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 41192972 41192972 C T SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known silent c.1956 p.C652 0.247 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 123 0 0 82 22 21.1538 PLA2G4F 0 genome.wustl.edu 37 15 42434265 42434265 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 42434265 42434265 C T SNP PLA2G4F ENST00000397272 human ensembl 74_37 -1 known missense c.2473 p.V825I 0.595 superfamily_Acyl_Trfase/lysoPLipase,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 95 0 0 62 8 11.4286 NARG2 0 genome.wustl.edu 37 15 60740299 60740299 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 60740299 60740299 T C SNP NARG2 ENST00000261520 human ensembl 74_37 -1 known missense c.2165 p.Y722C 0.990 pfam_NARG2_C pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 80 0 0 45 6 11.7647 NEO1 0 genome.wustl.edu 37 15 73562761 73562761 + Nonsense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 73562761 73562761 G A SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known nonsense c.2823 p.W941* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 48 0 0 31 4 11.4286 LINGO1 0 genome.wustl.edu 37 15 77907220 77907220 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 77907220 77907220 A G SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known silent c.1029 p.S343 0.069 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 35 0 0 20 3 13.0435 ADAMTS7 0 genome.wustl.edu 37 15 79058532 79058532 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 79058532 79058532 G A SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known missense c.3721 p.P1241S 0.019 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 54 0 0 31 5 13.8889 BTBD1 0 genome.wustl.edu 37 15 83710649 83710649 + Missense_Mutation SNP G G C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 83710649 83710649 G C SNP BTBD1 ENST00000261721 human ensembl 74_37 -1 known missense c.693 p.D231E 1.000 pfam_BACK,smart_BACK pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 78 0 0 54 4 6.89655 HDGFRP3 0 genome.wustl.edu 37 15 83876145 83876145 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 83876145 83876145 C T SNP HDGFRP3 ENST00000299633 human ensembl 74_37 -1 known missense c.22 p.E8K 1.000 pfam_PWWP_dom pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFRP3 Uniprot_gn ENSG00000166503 8 0 0 11 4 26.6667 AKAP13 0 genome.wustl.edu 37 15 86278836 86278836 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 86278836 86278836 C T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.7499 p.T2500M 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 91 0 0 45 20 30.7692 NTRK3 0 genome.wustl.edu 37 15 88680633 88680633 + Splice_Site SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 88680633 88680633 A G SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known splice_site c.622+2 e5+2 1.000 - - - no_errors NTRK3 HGNC ENSG00000140538 39 0 0 22 9 29.0323 DET1 0 genome.wustl.edu 37 15 89074729 89074729 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 89074729 89074729 G A SNP DET1 ENST00000444300 human ensembl 74_37 -1 known missense c.241 p.R81C 0.994 NULL pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 152 0 0 90 27 23.0769 MAN2A2 0 genome.wustl.edu 37 15 91462922 91462922 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 91462922 91462922 T G SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known missense c.3358 p.L1120V 0.523 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 260 0 0 171 24 12.3077 SOX8 0 genome.wustl.edu 37 16 1035326 1035326 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 1035326 1035326 C T SNP SOX8 ENST00000293894 human ensembl 74_37 +1 known silent c.1281 p.P427 0.006 NULL pfam_HMG_box_dom,pfam_Sox_N,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX8 HGNC ENSG00000005513 17 0 0 14 3 17.6471 CPPED1 0 genome.wustl.edu 37 16 12758926 12758926 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 12758926 12758926 A G SNP CPPED1 ENST00000381774 human ensembl 74_37 -1 known silent c.762 p.G254 0.297 NULL pfam_PEstase_dom - no_errors CPPED1 HGNC ENSG00000103381 48 0 0 45 5 10 ABCC6P1 0 genome.wustl.edu 37 16 18597253 18597253 + RNA SNP C C G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 18597253 18597253 C G SNP ABCC6P1 ENST00000546162 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ABCC6P1 HGNC ENSG00000256340 113 0 0 77 38 33.0435 TSC2 0 genome.wustl.edu 37 16 2134532 2134532 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 2134532 2134532 A C SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.4309 p.S1437R 0.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 25 0 0 14 2 12.5 METTL9 0 genome.wustl.edu 37 16 21666562 21666562 + Nonsense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 21666562 21666562 G T SNP METTL9 ENST00000358154 human ensembl 74_37 +1 known nonsense c.766 p.E256* 1.000 pfam_DREV_MeTrfase pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11 - no_errors METTL9 HGNC ENSG00000197006 64 0 0 21 4 16 PRSS22 0 genome.wustl.edu 37 16 2903195 2903195 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 2903195 2903195 C T SNP PRSS22 ENST00000161006 human ensembl 74_37 -1 known missense c.853 p.V285M 0.996 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS22 HGNC ENSG00000005001 56 0 0 57 7 10.9375 MVP 0 genome.wustl.edu 37 16 29853066 29853066 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 29853066 29853066 G T SNP MVP ENST00000357402 human ensembl 74_37 +1 known missense c.1341 p.Q447H 0.562 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 29 0 0 20 3 13.0435 DNAJA3 0 genome.wustl.edu 37 16 4492299 4492299 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 4492299 4492299 G A SNP DNAJA3 ENST00000262375 human ensembl 74_37 +1 known missense c.661 p.A221T 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA3 HGNC ENSG00000103423 124 0 0 67 21 23.8636 PPL 0 genome.wustl.edu 37 16 4940285 4940285 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 4940285 4940285 C T SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.2213 p.G738D 0.546 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 77 0 0 45 3 6.25 CHD9 0 genome.wustl.edu 37 16 53296901 53296901 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 53296901 53296901 G A SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known silent c.4212 p.A1404 0.073 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 82 0 0 64 15 18.9873 IRX6 0 genome.wustl.edu 37 16 55362689 55362689 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 55362689 55362689 G A SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.799 p.E267K 0.989 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 69 0 0 57 4 6.55738 PDXDC2P 0 genome.wustl.edu 37 16 70016342 70016342 + RNA SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 70016342 70016342 T C SNP PDXDC2P ENST00000325845 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PDXDC2P HGNC ENSG00000196696 93 0 0 55 7 11.2903 HYDIN 0 genome.wustl.edu 37 16 70902515 70902515 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 70902515 70902515 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.11268 p.D3756 0.002 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 48 0 0 29 13 30.9524 CHST4 0 genome.wustl.edu 37 16 71570602 71570602 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 71570602 71570602 A G SNP CHST4 ENST00000338482 human ensembl 74_37 +1 known missense c.22 p.K8E 0.051 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC ENSG00000140835 138 0 0 75 22 22.6804 MARVELD3 0 genome.wustl.edu 37 16 71668207 71668207 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 71668207 71668207 A G SNP MARVELD3 ENST00000268485 human ensembl 74_37 +1 known missense c.707 p.Y236C 1.000 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 210 0 0 172 14 7.52688 ZFHX3 0 genome.wustl.edu 37 16 72993579 72993579 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 72993579 72993579 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.466 p.A156T 0.587 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 75 0 0 38 8 17.3913 ADAMTS18 0 genome.wustl.edu 37 16 77327097 77327097 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 77327097 77327097 G A SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.3065 p.A1022V 0.004 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 127 0 0 91 15 14.1509 CDH13 0 genome.wustl.edu 37 16 83704413 83704413 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 83704413 83704413 G A SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.1120 p.E374K 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 58 0 0 34 10 22.7273 FLCN 0 genome.wustl.edu 37 17 17122405 17122405 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 17122405 17122405 G T SNP FLCN ENST00000285071 human ensembl 74_37 -1 known silent c.990 p.S330 0.490 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 171 0 0 132 15 10.2041 SREBF1 0 genome.wustl.edu 37 17 17721095 17721095 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 17721095 17721095 G T SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.1409 p.P470H 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 109 0 0 59 15 20.2703 SGSM2 0 genome.wustl.edu 37 17 2278838 2278838 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 2278838 2278838 A C SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known missense c.2153 p.D718A 0.992 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 114 0 0 69 4 5.47945 NOS2 0 genome.wustl.edu 37 17 26097971 26097971 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 26097971 26097971 A G SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known missense c.1777 p.F593L 0.998 pfam_Flavodoxin/NO_synth,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 42 0 0 27 5 15.625 OR1G1 0 genome.wustl.edu 37 17 3030732 3030732 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 3030732 3030732 C T SNP OR1G1 ENST00000328890 human ensembl 74_37 -1 known silent c.114 p.T38 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1G1 HGNC ENSG00000183024 148 0 0 52 35 40.2299 MYO1D 0 genome.wustl.edu 37 17 31048090 31048090 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 31048090 31048090 G A SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.1864 p.R622C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 211 0 0 147 36 19.6721 CCT6B 0 genome.wustl.edu 37 17 33269816 33269816 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 33269816 33269816 T G SNP CCT6B ENST00000314144 human ensembl 74_37 -1 known missense c.724 p.T242P 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 17 0 0 17 5 22.7273 PIP4K2B 0 genome.wustl.edu 37 17 36940538 36940538 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 36940538 36940538 T C SNP PIP4K2B ENST00000269554 human ensembl 74_37 -1 known silent c.312 p.R104 0.948 smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2B HGNC ENSG00000141720 64 0 0 50 9 15.2542 MED1 0 genome.wustl.edu 37 17 37564679 37564679 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 37564679 37564679 G T SNP MED1 ENST00000300651 human ensembl 74_37 -1 known silent c.3795 p.S1265 0.998 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 106 0 0 91 6 6.18557 MED1 0 genome.wustl.edu 37 17 37565515 37565515 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 37565515 37565515 C T SNP MED1 ENST00000300651 human ensembl 74_37 -1 known missense c.2959 p.G987R 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 71 0 0 42 5 10.6383 CDK12 0 genome.wustl.edu 37 17 37687432 37687432 + Nonsense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 37687432 37687432 G T SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known nonsense c.4336 p.G1446* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 141 0 0 85 5 5.55556 CAMKK1 0 genome.wustl.edu 37 17 3787183 3787183 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 3787183 3787183 G A SNP CAMKK1 ENST00000381771 human ensembl 74_37 -1 known missense c.457 p.H153Y 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKK1 HGNC ENSG00000004660 85 0 0 29 6 17.1429 KLHL10 0 genome.wustl.edu 37 17 40001522 40001522 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 40001522 40001522 T C SNP KLHL10 ENST00000293303 human ensembl 74_37 +1 known missense c.829 p.S277P 0.998 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL10 HGNC ENSG00000161594 98 0 0 70 26 27.0833 FZD2 0 genome.wustl.edu 37 17 42635342 42635342 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 42635342 42635342 T C SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.286 p.Y96H 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 131 0 0 91 11 10.7843 ADAM11 0 genome.wustl.edu 37 17 42849123 42849123 + Splice_Site SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 42849123 42849123 G T SNP ADAM11 ENST00000200557 human ensembl 74_37 +1 known splice_site c.468-1 e6-1 1.000 - - - no_errors ADAM11 HGNC ENSG00000073670 76 0 0 48 12 20 KIF18B 0 genome.wustl.edu 37 17 43005672 43005672 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 43005672 43005672 G T SNP KIF18B ENST00000339151 human ensembl 74_37 -1 known silent c.2007 p.T669 0.001 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 28 0 0 18 4 18.1818 HOXB4 0 genome.wustl.edu 37 17 46654092 46654092 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 46654092 46654092 C T SNP HOXB4 ENST00000332503 human ensembl 74_37 -1 known missense c.748 p.A250T 0.151 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB4 HGNC ENSG00000182742 39 0 0 15 5 25 MINK1 0 genome.wustl.edu 37 17 4798752 4798752 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 4798752 4798752 G T SNP MINK1 ENST00000355280 human ensembl 74_37 +1 known missense c.3193 p.V1065L 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MINK1 HGNC ENSG00000141503 51 0 0 22 5 18.5185 UTP18 0 genome.wustl.edu 37 17 49346264 49346264 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 49346264 49346264 T A SNP UTP18 ENST00000225298 human ensembl 74_37 +1 known missense c.621 p.D207E 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP18 HGNC ENSG00000011260 69 0 0 47 6 11.3208 HLF 0 genome.wustl.edu 37 17 53398104 53398104 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 53398104 53398104 A G SNP HLF ENST00000226067 human ensembl 74_37 +1 known missense c.752 p.N251S 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors HLF HGNC ENSG00000108924 44 0 0 39 4 9.30233 NLRP1 0 genome.wustl.edu 37 17 5424952 5424952 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 5424952 5424952 G A SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known silent c.3675 p.A1225 0.000 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 79 0 0 52 5 8.77193 TRIM37 0 genome.wustl.edu 37 17 57168701 57168701 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 57168701 57168701 G A SNP TRIM37 ENST00000262294 human ensembl 74_37 -1 known missense c.124 p.R42C 1.000 pfscan_Znf_RING pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 89 0 0 46 31 40.2597 DHX40 0 genome.wustl.edu 37 17 57644096 57644096 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 57644096 57644096 T G SNP DHX40 ENST00000251241 human ensembl 74_37 +1 known missense c.221 p.V74G 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 47 0 0 49 3 5.76923 MED13 0 genome.wustl.edu 37 17 60107230 60107230 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 60107230 60107230 A G SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.1154 p.M385T 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 105 0 0 96 7 6.79612 PSMC5 0 genome.wustl.edu 37 17 61907726 61907726 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 61907726 61907726 G A SNP PSMC5 ENST00000310144 human ensembl 74_37 +1 known missense c.417 p.M139I 1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC5 HGNC ENSG00000087191 103 0 0 64 10 13.5135 PSMC5 0 genome.wustl.edu 37 17 61908549 61908549 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 61908549 61908549 A C SNP PSMC5 ENST00000310144 human ensembl 74_37 +1 known missense c.833 p.N278T 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC5 HGNC ENSG00000087191 169 0 0 126 8 5.97015 BCL6B 0 genome.wustl.edu 37 17 6930312 6930312 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 6930312 6930312 A C SNP BCL6B ENST00000293805 human ensembl 74_37 +1 known missense c.1229 p.K410T 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 90 0 0 66 7 9.58904 UNK 0 genome.wustl.edu 37 17 73806045 73806045 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 73806045 73806045 C T SNP UNK ENST00000293218 human ensembl 74_37 +1 known silent c.537 p.G179 1.000 smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 63 0 0 76 6 7.31707 FOXJ1 0 genome.wustl.edu 37 17 74136102 74136102 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 74136102 74136102 C T SNP FOXJ1 ENST00000322957 human ensembl 74_37 -1 known silent c.375 p.S125 0.481 pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ1 HGNC ENSG00000129654 60 0 0 46 7 13.2075 RHBDF2 0 genome.wustl.edu 37 17 74473803 74473803 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 74473803 74473803 G A SNP RHBDF2 ENST00000313080 human ensembl 74_37 -1 known missense c.824 p.P275L 1.000 pfam_Rhomboid_SP pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 152 0 0 108 15 12.1951 TP53 0 genome.wustl.edu 37 17 7577130 7577130 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 7577130 7577130 A G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.808 p.F270L 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 27 0 0 16 8 33.3333 USP36 0 genome.wustl.edu 37 17 76799589 76799589 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 76799589 76799589 C T SNP USP36 ENST00000312010 human ensembl 74_37 -1 known silent c.2688 p.V896 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 137 0 0 128 16 11.1111 DNAH2 0 genome.wustl.edu 37 17 7722644 7722644 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 7722644 7722644 A G SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.10933 p.S3645G 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 99 0 0 65 6 8.4507 CHD3 0 genome.wustl.edu 37 17 7810228 7810228 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 7810228 7810228 G A SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known silent c.4545 p.P1515 0.019 pfam_DUF1086 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 204 0 0 124 22 15.0685 BAHCC1 0 genome.wustl.edu 37 17 79429898 79429898 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 79429898 79429898 A G SNP BAHCC1 ENST00000307745 human ensembl 74_37 +1 known missense c.7516 p.I2506V 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 132 0 0 88 6 6.38298 SLC16A3 0 genome.wustl.edu 37 17 80195437 80195437 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 80195437 80195437 C T SNP SLC16A3 ENST00000392339 human ensembl 74_37 +1 known missense c.791 p.A264V 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A3 HGNC ENSG00000141526 66 0 0 46 20 30.303 WDR45B 0 genome.wustl.edu 37 17 80579670 80579670 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 80579670 80579670 A G SNP WDR45B ENST00000392325 human ensembl 74_37 -1 known missense c.433 p.C145R 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45B HGNC ENSG00000141580 39 0 0 25 9 26.4706 ANKRD20A5P 0 genome.wustl.edu 37 18 14219919 14219919 + RNA SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 18 14219919 14219919 T C SNP ANKRD20A5P ENST00000580995 human ensembl 74_37 +1 known rna NULL NULL 0.943 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 28 0 0 35 5 12.5 ROCK1 0 genome.wustl.edu 37 18 18629775 18629775 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 18 18629775 18629775 A G SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known missense c.242 p.V81A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 67 0 0 43 9 17.3077 ABHD3 0 genome.wustl.edu 37 18 19282376 19282376 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 18 19282376 19282376 C T SNP ABHD3 ENST00000289119 human ensembl 74_37 -1 known missense c.410 p.S137N 0.941 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD3 HGNC ENSG00000158201 56 0 0 59 6 9.23077 GATA6 0 genome.wustl.edu 37 18 19751448 19751448 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 18 19751448 19751448 T C SNP GATA6 ENST00000269216 human ensembl 74_37 +1 known missense c.343 p.F115L 1.000 NULL pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA6 HGNC ENSG00000141448 34 0 0 31 7 18.4211 C18orf8 0 genome.wustl.edu 37 18 21107837 21107837 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 18 21107837 21107837 A G SNP C18orf8 ENST00000269221 human ensembl 74_37 +1 known missense c.1268 p.Y423C 1.000 NULL pfam_Mic1,superfamily_WD40_repeat_dom - no_errors C18orf8 HGNC ENSG00000141452 54 0 0 35 4 10.2564 SMAD4 0 genome.wustl.edu 37 18 48591919 48591919 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 18 48591919 48591919 G A SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1082 p.R361H 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 76 0 0 52 14 21.2121 ZNF532 0 genome.wustl.edu 37 18 56620958 56620958 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 18 56620958 56620958 C T SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.3077 p.T1026M 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 171 0 0 116 14 10.7692 CBLN2 0 genome.wustl.edu 37 18 70209167 70209167 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 18 70209167 70209167 C T SNP CBLN2 ENST00000269503 human ensembl 74_37 -1 known missense c.229 p.A77T 1.000 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 20 0 0 9 6 40 YES1 0 genome.wustl.edu 37 18 747955 747955 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 18 747955 747955 A G SNP YES1 ENST00000314574 human ensembl 74_37 -1 known silent c.435 p.N145 1.000 pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 189 0 0 189 29 13.3028 VAPA 0 genome.wustl.edu 37 18 9944930 9944930 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 18 9944930 9944930 C A SNP VAPA ENST00000340541 human ensembl 74_37 +1 known missense c.427 p.P143T 0.837 pirsf_Vesicle-associated_membrane pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom - no_errors VAPA HGNC ENSG00000101558 58 0 0 29 8 21.6216 S1PR2 0 genome.wustl.edu 37 19 10335474 10335474 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 10335474 10335474 G A SNP S1PR2 ENST00000590320 human ensembl 74_37 -1 known silent c.108 p.A36 0.980 prints_EDG5_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG5_rcpt,prints_GPCR_Rhodpsn,prints_S1P_rcpt,prints_Melcrt_ACTH_rcpt - no_errors S1PR2 HGNC ENSG00000267534 291 0 0 173 23 11.7347 SMARCA4 0 genome.wustl.edu 37 19 11097671 11097671 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 11097671 11097671 G T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.851 p.W284L 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 43 0 0 37 8 17.7778 ZNF709 0 genome.wustl.edu 37 19 12576221 12576221 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 12576221 12576221 T C SNP ZNF709 ENST00000397732 human ensembl 74_37 -1 known missense c.515 p.Q172R 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF709 HGNC ENSG00000242852 93 0 0 65 5 7.14286 ZNF490 0 genome.wustl.edu 37 19 12692000 12692000 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 12692000 12692000 C T SNP ZNF490 ENST00000311437 human ensembl 74_37 -1 known missense c.889 p.E297K 0.953 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 ZNF490 HGNC ENSG00000188033 110 0 0 64 10 13.5135 HOOK2 0 genome.wustl.edu 37 19 12883842 12883842 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 12883842 12883842 A G SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known missense c.221 p.M74T 0.879 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 124 0 0 88 6 6.38298 NOTCH3 0 genome.wustl.edu 37 19 15300208 15300208 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 15300208 15300208 G T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.1068 p.V356 1.000 pirsf_Notch,pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 107 0 0 64 4 5.88235 COPE 0 genome.wustl.edu 37 19 19030060 19030060 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 19030060 19030060 T C SNP COPE ENST00000262812 human ensembl 74_37 -1 known missense c.98 p.Q33R 1.000 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC ENSG00000105669 90 0 0 55 8 12.6984 SUGP2 0 genome.wustl.edu 37 19 19136068 19136068 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 19136068 19136068 A G SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known silent c.1089 p.A363 0.389 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 90 0 0 62 10 13.8889 ZNF729 0 genome.wustl.edu 37 19 22498715 22498715 + Silent SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 22498715 22498715 T G SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel silent c.2496 p.A832 0.952 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 ZNF729 HGNC ENSG00000196350 58 0 0 46 10 17.8571 ZNF98 0 genome.wustl.edu 37 19 22585671 22585671 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 22585671 22585671 T G SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.173 p.K58T 0.839 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF98 HGNC ENSG00000197360 90 0 0 67 15 18.2927 ZNF536 0 genome.wustl.edu 37 19 30934931 30934931 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 30934931 30934931 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.462 p.G154 0.936 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 62 0 0 54 5 8.47458 ZNF599 0 genome.wustl.edu 37 19 35251333 35251333 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 35251333 35251333 C T SNP ZNF599 ENST00000329285 human ensembl 74_37 -1 known missense c.373 p.E125K 0.960 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 ZNF599 HGNC ENSG00000153896 143 0 0 113 24 17.5182 MAG 0 genome.wustl.edu 37 19 35786697 35786697 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 35786697 35786697 G A SNP MAG ENST00000392213 human ensembl 74_37 +1 known silent c.228 p.S76 0.985 smart_Ig_sub pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 224 0 0 132 36 21.4286 FFAR2 0 genome.wustl.edu 37 19 35940885 35940885 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 35940885 35940885 A G SNP FFAR2 ENST00000246549 human ensembl 74_37 +1 known missense c.269 p.Y90C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR2 HGNC ENSG00000126262 48 0 0 20 3 13.0435 TJP3 0 genome.wustl.edu 37 19 3738575 3738575 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 3738575 3738575 A G SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known missense c.1406 p.N469S 0.971 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 177 0 0 120 9 6.97674 ZNF829 0 genome.wustl.edu 37 19 37398892 37398892 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 37398892 37398892 T C SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known silent c.501 p.L167 0.997 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF829 HGNC ENSG00000185869 66 0 0 42 8 16 ENSG00000269445 0 genome.wustl.edu 37 19 39018254 39018254 + RNA SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 39018254 39018254 C A SNP ENSG00000269445 ENST00000597015 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors AC067969.1 Clone_based_vega_gene ENSG00000269445 15 0 0 10 4 28.5714 EEF2 0 genome.wustl.edu 37 19 3976713 3976713 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 3976713 3976713 C T SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.2416 p.G806S 0.999 pfam_EFG_V,superfamily_EFG_III-V,smart_EFG_V pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 23 0 0 7 3 30 ZNF180 0 genome.wustl.edu 37 19 44981523 44981523 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 44981523 44981523 C T SNP ZNF180 ENST00000221327 human ensembl 74_37 -1 known missense c.1175 p.R392Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF180 HGNC ENSG00000167384 93 0 0 63 14 18.1818 OPA3 0 genome.wustl.edu 37 19 46056830 46056830 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 46056830 46056830 G A SNP OPA3 ENST00000263275 human ensembl 74_37 -1 known missense c.482 p.A161V 0.249 NULL pfam_OPA3-like - no_errors OPA3 HGNC ENSG00000125741 94 0 0 73 10 12.0482 FBXO46 0 genome.wustl.edu 37 19 46215158 46215158 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 46215158 46215158 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known silent c.1596 p.Q532 1.000 superfamily_F-box_dom superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 40 0 0 32 6 15.7895 RSPH6A 0 genome.wustl.edu 37 19 46318382 46318382 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 46318382 46318382 C T SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known missense c.53 p.R18Q 0.001 NULL pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 42 0 0 31 7 18.4211 MYPOP 0 genome.wustl.edu 37 19 46393902 46393902 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 46393902 46393902 G A SNP MYPOP ENST00000322217 human ensembl 74_37 -1 known silent c.1179 p.R393 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYPOP HGNC ENSG00000176182 76 0 0 57 9 13.6364 PTGIR 0 genome.wustl.edu 37 19 47124717 47124717 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 47124717 47124717 G T SNP PTGIR ENST00000291294 human ensembl 74_37 -1 known silent c.981 p.A327 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_IP_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt - no_errors PTGIR HGNC ENSG00000160013 82 0 0 56 4 6.66667 EHD2 0 genome.wustl.edu 37 19 48244374 48244374 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 48244374 48244374 C T SNP EHD2 ENST00000263277 human ensembl 74_37 +1 known silent c.1317 p.D439 0.069 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 83 0 0 56 11 16.4179 CCDC114 0 genome.wustl.edu 37 19 48801351 48801351 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 48801351 48801351 A G SNP CCDC114 ENST00000315396 human ensembl 74_37 -1 known missense c.1297 p.F433L 0.000 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 82 0 0 50 5 9.09091 PPFIA3 0 genome.wustl.edu 37 19 49651942 49651942 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 49651942 49651942 A C SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.3031 p.I1011L 1.000 pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 40 0 0 26 6 18.75 SLC17A7 0 genome.wustl.edu 37 19 49934368 49934368 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 49934368 49934368 C T SNP SLC17A7 ENST00000221485 human ensembl 74_37 -1 known silent c.1293 p.P431 0.906 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 33 0 0 24 3 11.1111 SPIB 0 genome.wustl.edu 37 19 50925742 50925742 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 50925742 50925742 G A SNP SPIB ENST00000595883 human ensembl 74_37 +1 known missense c.64 p.V22I 0.018 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPIB HGNC ENSG00000269404 50 0 0 41 9 18 KLK8 0 genome.wustl.edu 37 19 51499377 51499377 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 51499377 51499377 C T SNP KLK8 ENST00000391806 human ensembl 74_37 -1 known missense c.856 p.V286I 0.962 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK8 HGNC ENSG00000129455 185 0 0 133 26 16.3522 ZNF264 0 genome.wustl.edu 37 19 57724326 57724326 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 57724326 57724326 A C SNP ZNF264 ENST00000263095 human ensembl 74_37 +1 known missense c.1861 p.T621P 0.194 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 ZNF264 HGNC ENSG00000083844 124 0 0 80 9 10.1124 ZNF544 0 genome.wustl.edu 37 19 58757689 58757689 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 58757689 58757689 T C SNP ZNF544 ENST00000269829 human ensembl 74_37 +1 known missense c.56 p.V19A 0.989 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF544 HGNC ENSG00000198131 247 0 0 164 37 18.408 TUBB4A 0 genome.wustl.edu 37 19 6495703 6495703 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 6495703 6495703 G A SNP TUBB4A ENST00000264071 human ensembl 74_37 -1 known silent c.807 p.G269 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 113 0 0 76 4 5 SH2D3A 0 genome.wustl.edu 37 19 6754871 6754871 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 6754871 6754871 C T SNP SH2D3A ENST00000245908 human ensembl 74_37 -1 known missense c.952 p.A318T 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC ENSG00000125731 97 0 0 71 7 8.97436 CAMSAP3 0 genome.wustl.edu 37 19 7676871 7676871 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 7676871 7676871 T C SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known missense c.1573 p.S525P 0.002 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 68 0 0 50 3 5.66038 OR7E24 0 genome.wustl.edu 37 19 9362606 9362606 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 9362606 9362606 A G SNP OR7E24 ENST00000456448 human ensembl 74_37 +1 known missense c.887 p.Y296C 0.474 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 67 0 0 50 7 12.2807 GPR45 0 genome.wustl.edu 37 2 105858502 105858502 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 105858502 105858502 C T SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known missense c.187 p.P63S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 185 0 0 149 17 10.241 RANBP2 0 genome.wustl.edu 37 2 109383234 109383234 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 109383234 109383234 T C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.6239 p.V2080A 0.997 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 440 0 0 393 54 12.0805 KCNF1 0 genome.wustl.edu 37 2 11053714 11053714 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 11053714 11053714 G A SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.1162 p.A388T 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 64 0 0 52 8 13.3333 BUB1 0 genome.wustl.edu 37 2 111423901 111423901 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 111423901 111423901 T G SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known missense c.896 p.K299T 0.956 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 39 0 0 34 9 20.9302 CLASP1 0 genome.wustl.edu 37 2 122125256 122125256 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 122125256 122125256 T C SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known missense c.3794 p.N1265S 0.955 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 115 0 0 101 13 11.4035 LCT 0 genome.wustl.edu 37 2 136566638 136566638 + Silent SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 136566638 136566638 T G SNP LCT ENST00000264162 human ensembl 74_37 -1 known silent c.3279 p.I1093 0.589 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 82 0 0 54 14 20.5882 LCT 0 genome.wustl.edu 37 2 136567189 136567189 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 136567189 136567189 C T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.2728 p.G910S 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 111 0 0 86 12 12.2449 NXPH2 0 genome.wustl.edu 37 2 139428686 139428686 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 139428686 139428686 C T SNP NXPH2 ENST00000272641 human ensembl 74_37 -1 known missense c.601 p.A201T 0.999 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH2 HGNC ENSG00000144227 41 0 0 28 6 17.6471 LRP1B 0 genome.wustl.edu 37 2 141232835 141232835 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 141232835 141232835 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9497 p.S3166N 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 93 0 0 80 9 10.1124 LRP1B 0 genome.wustl.edu 37 2 141253204 141253204 + Silent SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 141253204 141253204 A C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.8964 p.T2988 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 112 0 0 100 11 9.90991 LRP1B 0 genome.wustl.edu 37 2 141641534 141641534 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 141641534 141641534 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4021 p.T1341A 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 140 0 0 126 23 15.4362 MMADHC 0 genome.wustl.edu 37 2 150433001 150433001 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 150433001 150433001 C T SNP MMADHC ENST00000303319 human ensembl 74_37 -1 known missense c.428 p.S143N 0.999 pfam_MMADHC pfam_MMADHC - no_errors MMADHC HGNC ENSG00000168288 109 0 0 117 9 7.14286 DDX1 0 genome.wustl.edu 37 2 15760451 15760451 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 15760451 15760451 C A SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known missense c.1326 p.H442Q 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 80 0 0 61 5 7.57576 GALNT5 0 genome.wustl.edu 37 2 158114806 158114806 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 158114806 158114806 T C SNP GALNT5 ENST00000259056 human ensembl 74_37 +1 known missense c.212 p.I71T 0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 191 0 0 162 10 5.81395 GRB14 0 genome.wustl.edu 37 2 165349470 165349470 + RNA SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 165349470 165349470 G A SNP GRB14 ENST00000497306 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GRB14 HGNC ENSG00000115290 32 0 0 20 5 20 SCN2A 0 genome.wustl.edu 37 2 166152444 166152444 + Silent SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 166152444 166152444 C A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known silent c.111 p.P37 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 40 0 0 21 4 16 SCN9A 0 genome.wustl.edu 37 2 167056026 167056026 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 167056026 167056026 A G SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.5126 p.L1709P 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 265 0 0 240 38 13.6691 XIRP2 0 genome.wustl.edu 37 2 168107435 168107435 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 168107435 168107435 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.9533 p.R3178H 0.993 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 122 0 0 100 19 15.9664 TTN 0 genome.wustl.edu 37 2 179400073 179400073 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 179400073 179400073 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.93565 p.S31189R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 124 0 0 108 20 15.625 TTN 0 genome.wustl.edu 37 2 179442835 179442835 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 179442835 179442835 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.60703 p.F20235V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 98 0 0 86 13 13.1313 TTN 0 genome.wustl.edu 37 2 179466741 179466741 + Missense_Mutation SNP C C G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 179466741 179466741 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.47553 p.K15851N 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 118 0 0 117 10 7.87402 TTN 0 genome.wustl.edu 37 2 179584494 179584494 + Nonsense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 179584494 179584494 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.19993 p.E6665* 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 50 0 0 64 5 7.24638 TTN 0 genome.wustl.edu 37 2 179614274 179614274 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 179614274 179614274 G A SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.12853 p.H4285Y 0.232 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 78 0 0 60 10 14.2857 TTN 0 genome.wustl.edu 37 2 179616598 179616598 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 179616598 179616598 A C SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.10529 p.L3510R 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 159 0 0 135 23 14.557 GEN1 0 genome.wustl.edu 37 2 17961984 17961984 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 17961984 17961984 A G SNP GEN1 ENST00000317402 human ensembl 74_37 +1 known missense c.1505 p.K502R 0.009 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors GEN1 HGNC ENSG00000178295 49 0 0 53 11 17.1875 TTN 0 genome.wustl.edu 37 2 179643977 179643977 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 179643977 179643977 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3942 p.M1314I 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 72 0 0 58 5 7.93651 MYT1L 0 genome.wustl.edu 37 2 1893203 1893203 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 1893203 1893203 A G SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.2330 p.M777T 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 86 0 0 67 5 6.94444 GULP1 0 genome.wustl.edu 37 2 189406013 189406013 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 189406013 189406013 C T SNP GULP1 ENST00000359135 human ensembl 74_37 +1 known missense c.367 p.H123Y 1.000 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors GULP1 HGNC ENSG00000144366 87 0 0 68 13 16.0494 MFSD6 0 genome.wustl.edu 37 2 191353530 191353530 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 191353530 191353530 T C SNP MFSD6 ENST00000281416 human ensembl 74_37 +1 known missense c.1778 p.L593S 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 112 0 0 108 14 11.4754 GLS 0 genome.wustl.edu 37 2 191775034 191775034 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 191775034 191775034 C A SNP GLS ENST00000320717 human ensembl 74_37 +1 known missense c.1025 p.T342N 1.000 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC ENSG00000115419 33 0 0 32 3 8.57143 TMEFF2 0 genome.wustl.edu 37 2 192818505 192818505 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 192818505 192818505 C T SNP TMEFF2 ENST00000272771 human ensembl 74_37 -1 known missense c.928 p.V310I 1.000 NULL pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 83 0 0 67 10 12.987 DNAH7 0 genome.wustl.edu 37 2 196837116 196837116 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 196837116 196837116 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.1908 p.L636 0.049 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 111 0 0 96 15 13.5135 PGAP1 0 genome.wustl.edu 37 2 197763087 197763087 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 197763087 197763087 C T SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known missense c.814 p.A272T 1.000 pfam_PGAP1-like pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 59 0 0 58 9 13.4328 ORC2 0 genome.wustl.edu 37 2 201785740 201785740 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 201785740 201785740 T C SNP ORC2 ENST00000234296 human ensembl 74_37 -1 known missense c.1270 p.I424V 1.000 pfam_ORC2 pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 65 0 0 49 4 7.54717 MATN3 0 genome.wustl.edu 37 2 20196998 20196998 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 20196998 20196998 G T SNP MATN3 ENST00000407540 human ensembl 74_37 -1 known silent c.1191 p.G397 0.257 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN3 HGNC ENSG00000132031 21 0 0 23 5 17.8571 PTH2R 0 genome.wustl.edu 37 2 209302278 209302278 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 209302278 209302278 T C SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known silent c.195 p.P65 0.930 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 71 0 0 61 4 6.15385 TTLL4 0 genome.wustl.edu 37 2 219602968 219602968 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 219602968 219602968 A G SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known missense c.569 p.E190G 0.996 NULL pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 130 0 0 133 7 5 TTLL4 0 genome.wustl.edu 37 2 219617886 219617886 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 219617886 219617886 T C SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known missense c.3236 p.V1079A 0.032 NULL pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 308 0 0 267 35 11.5894 SPEG 0 genome.wustl.edu 37 2 220337027 220337027 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 220337027 220337027 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.3914 p.P1305L 0.988 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 77 0 0 51 10 16.3934 OBSL1 0 genome.wustl.edu 37 2 220435255 220435255 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 220435255 220435255 G T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.700 p.P234T 0.944 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 38 0 0 23 2 8 NYAP2 0 genome.wustl.edu 37 2 226446682 226446682 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 226446682 226446682 C T SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known silent c.549 p.S183 0.995 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 170 0 0 138 21 13.2075 PID1 0 genome.wustl.edu 37 2 229890417 229890417 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 229890417 229890417 G A SNP PID1 ENST00000354069 human ensembl 74_37 -1 known silent c.684 p.S228 0.931 smart_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors PID1 HGNC ENSG00000153823 131 1 0.757576 74 53 41.7323 IQCA1 0 genome.wustl.edu 37 2 237285818 237285818 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 237285818 237285818 A G SNP IQCA1 ENST00000409907 human ensembl 74_37 -1 known missense c.1489 p.S497P 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 60 0 0 70 4 5.40541 COL6A3 0 genome.wustl.edu 37 2 238289663 238289663 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 238289663 238289663 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.1792 p.D598N 0.706 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 72 0 0 60 8 11.7647 HDLBP 0 genome.wustl.edu 37 2 242194542 242194542 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 242194542 242194542 G A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.1112 p.A371V 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 247 0 0 196 36 15.5172 GAL3ST2 0 genome.wustl.edu 37 2 242741350 242741350 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 242741350 242741350 C A SNP GAL3ST2 ENST00000192314 human ensembl 74_37 +1 known missense c.274 p.L92M 1.000 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST2 HGNC ENSG00000154252 78 0 0 52 14 21.2121 DRC1 0 genome.wustl.edu 37 2 26672938 26672938 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 26672938 26672938 G T SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known silent c.1584 p.L528 1.000 NULL NULL - no_errors DRC1 HGNC ENSG00000157856 28 0 0 22 4 15.3846 TCF23 0 genome.wustl.edu 37 2 27373194 27373194 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 27373194 27373194 G A SNP TCF23 ENST00000296096 human ensembl 74_37 +1 known silent c.426 p.P142 0.370 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF23 HGNC ENSG00000163792 291 0 0 269 30 10.0334 MPV17 0 genome.wustl.edu 37 2 27535602 27535602 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 27535602 27535602 C T SNP MPV17 ENST00000233545 human ensembl 74_37 -1 known missense c.224 p.R75Q 0.994 NULL pfam_Mpv17_PMP22 - no_errors MPV17 HGNC ENSG00000115204 73 0 0 60 13 17.8082 IFT172 0 genome.wustl.edu 37 2 27681051 27681051 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 27681051 27681051 G A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known silent c.2917 p.L973 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 133 0 0 114 19 14.2857 IFT172 0 genome.wustl.edu 37 2 27684212 27684212 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 27684212 27684212 C T SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.2366 p.R789Q 0.995 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 124 0 0 87 9 9.375 FAM179A 0 genome.wustl.edu 37 2 29240782 29240782 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 29240782 29240782 C T SNP FAM179A ENST00000379558 human ensembl 74_37 +1 known silent c.1320 p.P440 0.070 NULL pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 37 0 0 19 5 20.8333 CLIP4 0 genome.wustl.edu 37 2 29404451 29404451 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 29404451 29404451 T C SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known silent c.1810 p.L604 0.001 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 68 0 0 65 9 12.1622 SPAST 0 genome.wustl.edu 37 2 32339883 32339883 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 32339883 32339883 A G SNP SPAST ENST00000315285 human ensembl 74_37 +1 known missense c.859 p.T287A 0.893 pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 89 0 0 71 7 8.97436 YIPF4 0 genome.wustl.edu 37 2 32515676 32515676 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 32515676 32515676 T C SNP YIPF4 ENST00000238831 human ensembl 74_37 +1 known silent c.204 p.D68 1.000 NULL pfam_Yip1 - no_errors YIPF4 HGNC ENSG00000119820 67 0 0 69 19 21.5909 BIRC6 0 genome.wustl.edu 37 2 32668623 32668623 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 32668623 32668623 A G SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.4303 p.N1435D 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 22 0 0 9 3 25 STRN 0 genome.wustl.edu 37 2 37088308 37088308 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 37088308 37088308 T A SNP STRN ENST00000263918 human ensembl 74_37 -1 known missense c.1636 p.T546S 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC ENSG00000115808 88 0 0 96 11 10.2804 STRN 0 genome.wustl.edu 37 2 37126678 37126678 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 37126678 37126678 A G SNP STRN ENST00000263918 human ensembl 74_37 -1 known silent c.783 p.I261 0.997 NULL pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC ENSG00000115808 29 0 0 38 4 9.52381 CEBPZ 0 genome.wustl.edu 37 2 37441037 37441037 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 37441037 37441037 C T SNP CEBPZ ENST00000234170 human ensembl 74_37 -1 known missense c.2515 p.V839M 1.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 25 0 0 20 3 13.0435 CEBPZ 0 genome.wustl.edu 37 2 37454737 37454737 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 37454737 37454737 T C SNP CEBPZ ENST00000234170 human ensembl 74_37 -1 known silent c.1599 p.V533 0.352 pfam_CCAAT-binding_factor,superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 148 0 0 122 21 14.6853 PRKD3 0 genome.wustl.edu 37 2 37513366 37513366 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 37513366 37513366 G A SNP PRKD3 ENST00000234179 human ensembl 74_37 -1 known silent c.864 p.C288 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 65 0 0 64 10 13.5135 PREPL 0 genome.wustl.edu 37 2 44586851 44586851 + Nonsense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 44586851 44586851 G A SNP PREPL ENST00000260648 human ensembl 74_37 -1 known nonsense c.4 p.Q2* 1.000 NULL pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 66 0 0 56 7 11.1111 NRXN1 0 genome.wustl.edu 37 2 51253569 51253569 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 51253569 51253569 A C SNP NRXN1 ENST00000404971 human ensembl 74_37 -1 novel missense c.811 p.L271V 0.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 18 0 0 7 3 30 PNPT1 0 genome.wustl.edu 37 2 55908054 55908054 + Splice_Site SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 55908054 55908054 C A SNP PNPT1 ENST00000415374 human ensembl 74_37 -1 known splice_site c.454-1 e6-1 1.000 - - - no_errors PNPT1 HGNC ENSG00000138035 81 0 0 73 4 5.19481 BCL11A 0 genome.wustl.edu 37 2 60688122 60688122 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 60688122 60688122 A G SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1925 p.F642S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 49 0 0 51 4 7.27273 B3GNT2 0 genome.wustl.edu 37 2 62450292 62450292 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 62450292 62450292 G A SNP B3GNT2 ENST00000301998 human ensembl 74_37 +1 known missense c.937 p.G313S 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT2 HGNC ENSG00000170340 108 0 0 88 13 12.8713 EHBP1 0 genome.wustl.edu 37 2 63091876 63091876 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 63091876 63091876 T C SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known silent c.873 p.T291 0.998 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 77 0 0 61 18 22.7848 ATP6V1B1 0 genome.wustl.edu 37 2 71185198 71185198 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 71185198 71185198 T C SNP ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known missense c.197 p.V66A 1.000 pfam_ATPase_F1_a/bsu_N,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 38 0 0 23 7 23.3333 CYP26B1 0 genome.wustl.edu 37 2 72371240 72371240 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 72371240 72371240 G A SNP CYP26B1 ENST00000001146 human ensembl 74_37 -1 known missense c.307 p.R103C 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC ENSG00000003137 108 0 0 88 18 16.9811 ALMS1 0 genome.wustl.edu 37 2 73777450 73777450 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 73777450 73777450 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.9961 p.D3321N 0.992 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 111 0 0 92 6 6.12245 SEMA4F 0 genome.wustl.edu 37 2 74884987 74884987 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 74884987 74884987 G A SNP SEMA4F ENST00000357877 human ensembl 74_37 +1 known missense c.365 p.C122Y 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4F HGNC ENSG00000135622 154 0 0 142 10 6.57895 HK2 0 genome.wustl.edu 37 2 75100464 75100464 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 75100464 75100464 T C SNP HK2 ENST00000290573 human ensembl 74_37 +1 known missense c.557 p.V186A 0.997 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 165 0 0 103 13 11.2069 HK2 0 genome.wustl.edu 37 2 75112659 75112659 + Silent SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 75112659 75112659 T G SNP HK2 ENST00000290573 human ensembl 74_37 +1 known silent c.1878 p.S626 0.934 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 68 0 0 72 13 15.2941 USP39 0 genome.wustl.edu 37 2 85848665 85848665 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 85848665 85848665 T C SNP USP39 ENST00000409470 human ensembl 74_37 +1 known silent c.396 p.N132 1.000 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP39 HGNC ENSG00000168883 102 0 0 74 20 21.2766 ASAP2 0 genome.wustl.edu 37 2 9437519 9437519 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 9437519 9437519 C T SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known missense c.290 p.A97V 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 84 0 0 56 6 9.67742 ASTL 0 genome.wustl.edu 37 2 96798424 96798424 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 96798424 96798424 C A SNP ASTL ENST00000342380 human ensembl 74_37 -1 known missense c.492 p.Q164H 1.000 pfam_Peptidase_M12A,smart_Peptidase_Metallo pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 145 0 0 90 8 8.16327 ZAP70 0 genome.wustl.edu 37 2 98340736 98340736 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 98340736 98340736 A G SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known silent c.237 p.G79 0.996 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 17 0 0 13 3 18.75 SEL1L2 0 genome.wustl.edu 37 20 13856754 13856754 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 13856754 13856754 A G SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known missense c.1034 p.L345S 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 117 0 0 183 10 5.18135 KIF16B 0 genome.wustl.edu 37 20 16360254 16360254 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 16360254 16360254 C A SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.2393 p.R798L 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 78 0 0 109 9 7.62712 PYGB 0 genome.wustl.edu 37 20 25259058 25259058 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 25259058 25259058 G A SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.959 p.R320Q 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 83 0 0 95 13 12.037 NINL 0 genome.wustl.edu 37 20 25485646 25485646 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 25485646 25485646 T C SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.586 p.T196A 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 40 0 0 34 6 15 VPS16 0 genome.wustl.edu 37 20 2841689 2841689 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 2841689 2841689 C T SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known missense c.704 p.A235V 0.996 pfam_Vps16_N,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 175 0 0 161 12 6.93642 MYH7B 0 genome.wustl.edu 37 20 33575629 33575629 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 33575629 33575629 T C SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.1454 p.V485A 0.997 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 97 0 0 124 11 8.14815 CHD6 0 genome.wustl.edu 37 20 40118621 40118621 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 40118621 40118621 T C SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.1477 p.T493A 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 186 0 0 183 16 8.0402 HNF4A 0 genome.wustl.edu 37 20 43034862 43034862 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 43034862 43034862 T C SNP HNF4A ENST00000316099 human ensembl 74_37 +1 known missense c.280 p.Y94H 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 42 0 0 31 5 13.8889 ADA 0 genome.wustl.edu 37 20 43249007 43249007 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 43249007 43249007 T G SNP ADA ENST00000372874 human ensembl 74_37 -1 known missense c.1011 p.E337D 0.532 pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase - no_errors ADA HGNC ENSG00000196839 120 0 0 109 11 9.16667 ADA 0 genome.wustl.edu 37 20 43251662 43251662 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 43251662 43251662 C T SNP ADA ENST00000372874 human ensembl 74_37 -1 known missense c.664 p.E222K 0.000 pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase - no_errors ADA HGNC ENSG00000196839 127 0 0 130 18 12.1622 KCNS1 0 genome.wustl.edu 37 20 43726423 43726423 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 43726423 43726423 G A SNP KCNS1 ENST00000306117 human ensembl 74_37 -1 known silent c.990 p.G330 0.076 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC ENSG00000124134 38 0 0 28 13 31.7073 NCOA3 0 genome.wustl.edu 37 20 46276073 46276073 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 46276073 46276073 T A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known missense c.3509 p.L1170H 0.998 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 74 0 0 73 4 5.19481 ARFGEF2 0 genome.wustl.edu 37 20 47570216 47570216 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 47570216 47570216 A G SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.727 p.T243A 0.007 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 87 0 0 90 5 5.26316 SALL4 0 genome.wustl.edu 37 20 50407791 50407791 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 50407791 50407791 C T SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.1231 p.V411M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 77 0 0 65 7 9.72222 TSHZ2 0 genome.wustl.edu 37 20 51870590 51870590 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 51870590 51870590 A G SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.593 p.Y198C 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 52 0 0 56 6 9.67742 PROKR2 0 genome.wustl.edu 37 20 5294808 5294808 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 5294808 5294808 C A SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.208 p.G70C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 116 0 0 102 20 16.3934 DOK5 0 genome.wustl.edu 37 20 53205314 53205314 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 53205314 53205314 A C SNP DOK5 ENST00000262593 human ensembl 74_37 +1 known missense c.378 p.L126F 0.970 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK5 HGNC ENSG00000101134 95 0 0 91 12 11.6505 GPCPD1 0 genome.wustl.edu 37 20 5528262 5528262 + RNA SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 5528262 5528262 A G SNP GPCPD1 ENST00000462080 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors GPCPD1 HGNC ENSG00000125772 68 0 0 47 3 6 CDH4 0 genome.wustl.edu 37 20 60485530 60485530 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 60485530 60485530 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.1241 p.T414M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 69 0 0 44 16 26.6667 LAMA5 0 genome.wustl.edu 37 20 60892041 60892041 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 60892041 60892041 C A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.7550 p.R2517M 0.824 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 26 0 0 20 2 9.09091 SLC17A9 0 genome.wustl.edu 37 20 61588850 61588850 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 61588850 61588850 C T SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known silent c.315 p.A105 0.014 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 56 0 0 54 6 10 KCNQ2 0 genome.wustl.edu 37 20 62046342 62046342 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 62046342 62046342 A G SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.1355 p.V452A 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 113 0 0 89 7 7.29167 DNAJC5 0 genome.wustl.edu 37 20 62559774 62559774 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 62559774 62559774 G A SNP DNAJC5 ENST00000360864 human ensembl 74_37 +1 known missense c.76 p.A26T 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5 HGNC ENSG00000101152 80 0 0 70 9 11.3924 NCAM2 0 genome.wustl.edu 37 21 22910175 22910175 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 21 22910175 22910175 C T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.2411 p.P804L 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 53 0 0 66 6 8.33333 JAM2 0 genome.wustl.edu 37 21 27084687 27084687 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 21 27084687 27084687 G A SNP JAM2 ENST00000312957 human ensembl 74_37 +1 known missense c.857 p.S286N 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors JAM2 HGNC ENSG00000154721 71 0 0 69 10 12.6582 LTN1 0 genome.wustl.edu 37 21 30309004 30309004 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 21 30309004 30309004 A G SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known missense c.4636 p.S1546P 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 280 0 0 187 48 20.4255 B3GALT5 0 genome.wustl.edu 37 21 41033164 41033164 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 21 41033164 41033164 G A SNP B3GALT5 ENST00000343118 human ensembl 74_37 +1 known silent c.678 p.A226 0.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT5 HGNC ENSG00000183778 127 0 0 66 24 26.6667 DSCAM 0 genome.wustl.edu 37 21 41719765 41719765 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 21 41719765 41719765 A G SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.1042 p.Y348H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 161 0 0 97 10 9.34579 NDUFV3 0 genome.wustl.edu 37 21 44323544 44323544 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 21 44323544 44323544 C A SNP NDUFV3 ENST00000354250 human ensembl 74_37 +1 known missense c.422 p.A141D 0.001 NULL NULL - no_errors NDUFV3 HGNC ENSG00000160194 226 0 0 137 29 17.4699 KRTAP10-2 0 genome.wustl.edu 37 21 45971299 45971299 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 21 45971299 45971299 T C SNP KRTAP10-2 ENST00000391621 human ensembl 74_37 -1 known missense c.43 p.N15D 0.198 NULL NULL - no_errors KRTAP10-2 HGNC ENSG00000205445 150 0 0 88 6 6.38298 PCNT 0 genome.wustl.edu 37 21 47848452 47848452 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 21 47848452 47848452 G T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known silent c.7638 p.L2546 0.986 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 24 0 0 19 2 9.52381 PCNT 0 genome.wustl.edu 37 21 47848469 47848469 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 21 47848469 47848469 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.7655 p.R2552H 0.408 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 24 0 0 11 4 26.6667 DIP2A 0 genome.wustl.edu 37 21 47961668 47961668 + Splice_Site SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 21 47961668 47961668 G T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known splice_site c.2040-1 e18-1 1.000 - - - no_errors DIP2A HGNC ENSG00000160305 50 0 0 33 6 15.3846 MYO18B 0 genome.wustl.edu 37 22 26423589 26423589 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 22 26423589 26423589 C T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.7649 p.T2550M 0.005 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 35 0 0 17 6 26.087 NEFH 0 genome.wustl.edu 37 22 29886141 29886141 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 22 29886141 29886141 C T SNP NEFH ENST00000310624 human ensembl 74_37 +1 known missense c.2512 p.P838S 1.000 NULL pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 34 0 0 24 7 22.5806 MTMR3 0 genome.wustl.edu 37 22 30415734 30415734 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 22 30415734 30415734 G A SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known missense c.2086 p.A696T 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 107 0 0 77 8 9.41176 MB 0 genome.wustl.edu 37 22 36006983 36006983 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 22 36006983 36006983 G A SNP MB ENST00000359787 human ensembl 74_37 -1 known missense c.266 p.P89L 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Myoglobin - no_errors MB HGNC ENSG00000198125 52 0 0 29 3 9.375 XRCC6 0 genome.wustl.edu 37 22 42052906 42052906 + Splice_Site SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 22 42052906 42052906 G T SNP XRCC6 ENST00000359308 human ensembl 74_37 +1 known splice_site c.1292-1 e9-1 1.000 - - - no_errors XRCC6 HGNC ENSG00000196419 61 0 0 46 5 9.80392 ATXN10 0 genome.wustl.edu 37 22 46114329 46114329 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 22 46114329 46114329 G A SNP ATXN10 ENST00000252934 human ensembl 74_37 +1 known silent c.684 p.P228 0.996 superfamily_ARM-type_fold pfam_Ataxin-10_domain,superfamily_ARM-type_fold - no_errors ATXN10 HGNC ENSG00000130638 160 0 0 106 23 17.8295 PLXNB2 0 genome.wustl.edu 37 22 50718919 50718919 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 22 50718919 50718919 T C SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.4174 p.R1392G 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 111 0 0 54 11 16.9231 CEP97 0 genome.wustl.edu 37 3 101475941 101475941 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 101475941 101475941 A G SNP CEP97 ENST00000327230 human ensembl 74_37 +1 known missense c.928 p.N310D 0.996 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 110 0 0 50 13 20.6349 NFKBIZ 0 genome.wustl.edu 37 3 101574022 101574022 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 101574022 101574022 T C SNP NFKBIZ ENST00000326172 human ensembl 74_37 +1 known silent c.1560 p.C520 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIZ HGNC ENSG00000144802 101 0 0 60 16 21.0526 DZIP3 0 genome.wustl.edu 37 3 108363596 108363596 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 108363596 108363596 T C SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known missense c.1727 p.I576T 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 109 0 0 104 10 8.77193 PRR23A 0 genome.wustl.edu 37 3 138724615 138724615 + Missense_Mutation SNP C C G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 138724615 138724615 C G SNP PRR23A ENST00000383163 human ensembl 74_37 -1 known missense c.496 p.E166Q 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23A HGNC ENSG00000206260 29 0 0 26 18 40.9091 PRR23A 0 genome.wustl.edu 37 3 138724709 138724709 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 138724709 138724709 G A SNP PRR23A ENST00000383163 human ensembl 74_37 -1 known silent c.402 p.D134 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23A HGNC ENSG00000206260 30 0 0 27 5 15.625 CLSTN2 0 genome.wustl.edu 37 3 140122478 140122478 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 140122478 140122478 C T SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known silent c.240 p.I80 0.995 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 199 0 0 183 30 14.0845 ZBTB38 0 genome.wustl.edu 37 3 141164211 141164211 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 141164211 141164211 G A SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known missense c.2984 p.G995E 0.001 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 44 0 0 23 10 30.303 TMEM43 0 genome.wustl.edu 37 3 14174093 14174093 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 14174093 14174093 A G SNP TMEM43 ENST00000306077 human ensembl 74_37 +1 known missense c.440 p.Y147C 1.000 pfam_TMEM43_fam pfam_TMEM43_fam - no_errors TMEM43 HGNC ENSG00000170876 71 0 0 45 8 15.0943 MED12L 0 genome.wustl.edu 37 3 151083753 151083753 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 151083753 151083753 T G SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.3196 p.F1066V 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 118 0 0 85 68 44.4444 GPR149 0 genome.wustl.edu 37 3 154147110 154147110 + Missense_Mutation SNP C C G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 154147110 154147110 C G SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known missense c.295 p.G99R 0.083 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 142 0 0 146 15 9.31677 KCNAB1 0 genome.wustl.edu 37 3 156009837 156009837 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 156009837 156009837 G A SNP KCNAB1 ENST00000302490 human ensembl 74_37 +1 known silent c.141 p.A47 0.856 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 88 0 0 100 7 6.54206 MIR720 0 genome.wustl.edu 37 3 164059186 164059186 + RNA SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 164059186 164059186 G T SNP MIR720 ENST00000408828 human ensembl 74_37 +1 known rna NULL NULL 0.088 - - - no_errors MIR720 HGNC ENSG00000221755 8 0 0 9 3 25 SI 0 genome.wustl.edu 37 3 164755788 164755788 + Nonsense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 164755788 164755788 G A SNP SI ENST00000264382 human ensembl 74_37 -1 known nonsense c.2326 p.Q776* 0.982 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 48 0 0 74 6 7.5 WDR49 0 genome.wustl.edu 37 3 167277983 167277983 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 167277983 167277983 A G SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.520 p.F174L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 81 0 0 75 22 22.6804 ACTRT3 0 genome.wustl.edu 37 3 169485673 169485673 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 169485673 169485673 G A SNP ACTRT3 ENST00000330368 human ensembl 74_37 -1 known silent c.666 p.Y222 0.693 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT3 HGNC ENSG00000184378 145 0 0 129 13 9.15493 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 89 0 0 96 26 21.3115 KLHL6 0 genome.wustl.edu 37 3 183225953 183225953 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 183225953 183225953 G T SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known missense c.803 p.P268Q 0.999 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 124 0 0 139 10 6.71141 KLHL6 0 genome.wustl.edu 37 3 183245660 183245660 + Silent SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 183245660 183245660 C A SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known silent c.432 p.R144 0.999 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 69 0 0 85 9 9.57447 ABCC5 0 genome.wustl.edu 37 3 183643441 183643441 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 183643441 183643441 T C SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known missense c.4114 p.I1372V 0.985 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 103 0 0 95 7 6.86275 EIF2B5 0 genome.wustl.edu 37 3 183860111 183860111 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 183860111 183860111 C T SNP EIF2B5 ENST00000273783 human ensembl 74_37 +1 known silent c.1389 p.G463 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 79 0 0 77 9 10.4651 DVL3 0 genome.wustl.edu 37 3 183885371 183885371 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 183885371 183885371 T C SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known missense c.1202 p.L401P 1.000 NULL pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 63 0 0 65 8 10.9589 ECE2 0 genome.wustl.edu 37 3 184009927 184009927 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 184009927 184009927 C T SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known silent c.2553 p.R851 0.008 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 76 0 0 87 22 20.1835 MB21D2 0 genome.wustl.edu 37 3 192516473 192516473 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 192516473 192516473 A G SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known missense c.1178 p.V393A 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 50 0 0 69 4 5.47945 OPA1 0 genome.wustl.edu 37 3 193343943 193343943 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 193343943 193343943 C T SNP OPA1 ENST00000361510 human ensembl 74_37 +1 known silent c.741 p.R247 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF - no_errors OPA1 HGNC ENSG00000198836 81 0 0 96 6 5.88235 ATP13A3 0 genome.wustl.edu 37 3 194158139 194158139 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 194158139 194158139 G A SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known missense c.1900 p.R634C 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 95 0 0 87 20 18.6916 XXYLT1 0 genome.wustl.edu 37 3 194790641 194790641 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 194790641 194790641 C T SNP XXYLT1 ENST00000310380 human ensembl 74_37 -1 known missense c.985 p.G329R 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 58 0 0 72 12 14.2857 SDHAP1 0 genome.wustl.edu 37 3 195701416 195701416 + RNA SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 195701416 195701416 G A SNP SDHAP1 ENST00000427841 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors SDHAP1 HGNC ENSG00000185485 65 0 0 69 12 14.8148 EFHB 0 genome.wustl.edu 37 3 19930097 19930097 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 19930097 19930097 T C SNP EFHB ENST00000295824 human ensembl 74_37 -1 known missense c.1772 p.D591G 0.002 pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHB HGNC ENSG00000163576 23 0 0 13 3 18.75 NR1D2 0 genome.wustl.edu 37 3 24006563 24006563 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 24006563 24006563 A C SNP NR1D2 ENST00000312521 human ensembl 74_37 +1 known missense c.1242 p.K414N 0.994 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D2 HGNC ENSG00000174738 168 0 0 138 12 8 ZNF860 0 genome.wustl.edu 37 3 32031859 32031859 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 32031859 32031859 A G SNP ZNF860 ENST00000360311 human ensembl 74_37 +1 known missense c.1288 p.K430E 0.912 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF860 HGNC ENSG00000197385 55 0 0 29 6 17.1429 ZNF860 0 genome.wustl.edu 37 3 32032011 32032011 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 32032011 32032011 A C SNP ZNF860 ENST00000360311 human ensembl 74_37 +1 known missense c.1440 p.K480N 0.999 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 ZNF860 HGNC ENSG00000197385 97 0 0 71 6 7.79221 TRANK1 0 genome.wustl.edu 37 3 36887887 36887887 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 36887887 36887887 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known silent c.4911 p.N1637 0.994 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 33 0 0 34 3 8.10811 SCN10A 0 genome.wustl.edu 37 3 38739912 38739912 + Missense_Mutation SNP A A T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 38739912 38739912 A T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.4799 p.L1600H 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 163 0 0 95 17 15.1786 SCN11A 0 genome.wustl.edu 37 3 38889155 38889155 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 38889155 38889155 C T SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.4406 p.R1469Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 73 0 0 41 7 14.5833 ZKSCAN7 0 genome.wustl.edu 37 3 44598809 44598809 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 44598809 44598809 G T SNP ZKSCAN7 ENST00000273320 human ensembl 74_37 +1 known missense c.270 p.K90N 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN7 HGNC ENSG00000196345 92 0 0 59 16 21.3333 LTF 0 genome.wustl.edu 37 3 46491433 46491433 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 46491433 46491433 G A SNP LTF ENST00000231751 human ensembl 74_37 -1 known missense c.968 p.A323V 0.017 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC ENSG00000012223 78 0 0 72 7 8.86076 CSPG5 0 genome.wustl.edu 37 3 47619224 47619224 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 47619224 47619224 T C SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known missense c.292 p.T98A 0.002 pfam_Chon_Sulph_att pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 79 0 0 62 5 7.46269 DHX30 0 genome.wustl.edu 37 3 47890542 47890542 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 47890542 47890542 T C SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.2902 p.Y968H 0.958 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 109 0 0 63 10 13.6986 RBM6 0 genome.wustl.edu 37 3 50005505 50005505 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 50005505 50005505 G A SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.647 p.R216K 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 104 0 0 70 11 13.5802 WDR82 0 genome.wustl.edu 37 3 52312317 52312317 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 52312317 52312317 A C SNP WDR82 ENST00000296490 human ensembl 74_37 -1 known missense c.61 p.S21A 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR82 HGNC ENSG00000164091 42 0 0 43 4 8.51064 TKT 0 genome.wustl.edu 37 3 53289886 53289886 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 53289886 53289886 T C SNP TKT ENST00000423525 human ensembl 74_37 -1 known missense c.73 p.S25G 0.960 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKT HGNC ENSG00000163931 28 0 0 23 8 25.8065 TMF1 0 genome.wustl.edu 37 3 69077408 69077408 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 69077408 69077408 A G SNP TMF1 ENST00000543976 human ensembl 74_37 -1 known missense c.2642 p.V881A 0.863 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 58 0 0 50 4 7.40741 ROBO1 0 genome.wustl.edu 37 3 78663796 78663796 + Splice_Site SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 78663796 78663796 A G SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known splice_site c.4435+2 e27+2 1.000 - - - no_errors ROBO1 HGNC ENSG00000169855 29 0 0 22 5 18.5185 EPHA3 0 genome.wustl.edu 37 3 89445043 89445043 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 89445043 89445043 T G SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1363 p.L455V 0.982 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_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,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_dom - no_errors EPHA3 HGNC ENSG00000044524 175 0 0 119 22 15.6028 EPHA3 0 genome.wustl.edu 37 3 89528603 89528603 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 89528603 89528603 G A SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.2903 p.S968N 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,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_dom - no_errors EPHA3 HGNC ENSG00000044524 61 0 0 38 3 7.31707 OR5K3 0 genome.wustl.edu 37 3 98110108 98110108 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 98110108 98110108 T G SNP OR5K3 ENST00000383695 human ensembl 74_37 +1 known missense c.599 p.F200C 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K3 HGNC ENSG00000206536 72 0 0 47 6 11.3208 C4orf17 0 genome.wustl.edu 37 4 100460468 100460468 + Silent SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 100460468 100460468 A C SNP C4orf17 ENST00000326581 human ensembl 74_37 +1 known silent c.777 p.P259 0.000 NULL NULL - no_errors C4orf17 HGNC ENSG00000138813 125 0 0 67 32 32.3232 PPP3CA 0 genome.wustl.edu 37 4 101961640 101961640 + Nonsense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 101961640 101961640 T A SNP PPP3CA ENST00000394854 human ensembl 74_37 -1 known nonsense c.1240 p.R414* 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 59 0 0 61 12 16.4384 C4orf21 0 genome.wustl.edu 37 4 113524722 113524722 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 113524722 113524722 T C SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known silent c.2934 p.T978 0.000 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 87 0 0 62 7 10.1449 ANK2 0 genome.wustl.edu 37 4 114277281 114277281 + Missense_Mutation SNP G G C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 114277281 114277281 G C SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.7507 p.A2503P 0.983 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 126 0 0 75 14 15.7303 NDST4 0 genome.wustl.edu 37 4 115773957 115773957 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 115773957 115773957 T C SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known silent c.1740 p.R580 0.825 superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 48 0 0 40 4 9.09091 ADAD1 0 genome.wustl.edu 37 4 123342544 123342544 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 123342544 123342544 A C SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.1616 p.K539T 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 49 0 0 21 6 22.2222 NUDT6 0 genome.wustl.edu 37 4 123814250 123814250 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 123814250 123814250 G A SNP NUDT6 ENST00000304430 human ensembl 74_37 -1 known silent c.684 p.R228 0.998 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like - no_errors NUDT6 HGNC ENSG00000170917 187 0 0 121 9 6.92308 ANKRD50 0 genome.wustl.edu 37 4 125590260 125590260 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 125590260 125590260 T C SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.4172 p.Q1391R 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 107 0 0 95 7 6.86275 HHIP 0 genome.wustl.edu 37 4 145640026 145640026 + Splice_Site SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 145640026 145640026 G T SNP HHIP ENST00000296575 human ensembl 74_37 +1 known splice_site c.1679-1 e11-1 1.000 - - - no_errors HHIP HGNC ENSG00000164161 80 0 0 50 4 7.40741 ABCE1 0 genome.wustl.edu 37 4 146025624 146025624 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 146025624 146025624 A G SNP ABCE1 ENST00000296577 human ensembl 74_37 +1 known silent c.60 p.K20 1.000 pfam_RNaseL-inhib_metal-bd_dom pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 55 0 0 46 12 20.6897 FHDC1 0 genome.wustl.edu 37 4 153897212 153897212 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 153897212 153897212 A G SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known silent c.2769 p.S923 0.000 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 53 0 0 30 5 14.2857 KIAA0922 0 genome.wustl.edu 37 4 154525458 154525458 + Silent SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 154525458 154525458 C A SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known silent c.3294 p.A1098 0.011 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 71 0 0 57 6 9.52381 GUCY1A3 0 genome.wustl.edu 37 4 156618035 156618035 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 156618035 156618035 C T SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.16 p.L6F 1.000 NULL pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 66 0 0 40 5 11.1111 MSMO1 0 genome.wustl.edu 37 4 166254723 166254723 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 166254723 166254723 A G SNP MSMO1 ENST00000261507 human ensembl 74_37 +1 known silent c.201 p.L67 1.000 NULL pfam_Fatty_acid_hydroxylase - no_errors MSMO1 HGNC ENSG00000052802 52 0 0 29 2 6.45161 SH3RF1 0 genome.wustl.edu 37 4 170028302 170028302 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 170028302 170028302 G A SNP SH3RF1 ENST00000284637 human ensembl 74_37 -1 known missense c.2194 p.P732S 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 54 0 0 66 7 9.58904 CDKN2AIP 0 genome.wustl.edu 37 4 184367704 184367704 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 184367704 184367704 G T SNP CDKN2AIP ENST00000504169 human ensembl 74_37 +1 known missense c.867 p.E289D 0.941 NULL pfam_DUF3469,pfscan_dsRNA-bd_dom - no_errors CDKN2AIP HGNC ENSG00000168564 56 0 0 38 3 7.31707 MTNR1A 0 genome.wustl.edu 37 4 187454870 187454870 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 187454870 187454870 A G SNP MTNR1A ENST00000307161 human ensembl 74_37 -1 known silent c.1026 p.N342 0.999 prints_Mel_1A_rcpt,prints_Mel_rcpt_1C pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 147 0 0 62 21 25.3012 SLIT2 0 genome.wustl.edu 37 4 20525651 20525651 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 20525651 20525651 A C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.1289 p.N430T 1.000 smart_Cys-rich_flank_reg_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 176 0 0 105 24 18.6047 SLIT2 0 genome.wustl.edu 37 4 20568977 20568977 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 20568977 20568977 T G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.2818 p.F940V 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 189 0 0 114 21 15.5556 HTT 0 genome.wustl.edu 37 4 3146957 3146957 + Splice_Site SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 3146957 3146957 T C SNP HTT ENST00000355072 human ensembl 74_37 +1 known splice_site c.3143+2 e24+2 1.000 - - - no_errors HTT HGNC ENSG00000197386 100 1 0.990099 75 6 7.40741 UGT2B28 0 genome.wustl.edu 37 4 70160477 70160477 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 70160477 70160477 T G SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known missense c.1540 p.F514V 0.192 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 105 0 0 75 6 7.40741 GRSF1 0 genome.wustl.edu 37 4 71701916 71701916 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 71701916 71701916 G T SNP GRSF1 ENST00000254799 human ensembl 74_37 -1 known missense c.473 p.P158H 0.996 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors GRSF1 HGNC ENSG00000132463 52 0 0 23 4 14.8148 FRAS1 0 genome.wustl.edu 37 4 79429907 79429907 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 79429907 79429907 A C SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.9527 p.D3176A 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 44 0 0 27 3 10 WDFY3 0 genome.wustl.edu 37 4 85654581 85654581 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 85654581 85654581 T C SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.7175 p.N2392S 1.000 superfamily_Cyclin-like pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 332 0 0 227 37 14.0152 WDFY3 0 genome.wustl.edu 37 4 85707266 85707266 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 85707266 85707266 C A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.3928 p.V1310L 0.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 87 0 0 54 12 18.1818 PTPN13 0 genome.wustl.edu 37 4 87735668 87735668 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 87735668 87735668 A G SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known silent c.7437 p.E2479 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 57 0 0 34 8 19.0476 GRID2 0 genome.wustl.edu 37 4 94690430 94690430 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 94690430 94690430 G A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known silent c.2430 p.Q810 1.000 pfam_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 118 0 0 59 34 36.5591 SLCO6A1 0 genome.wustl.edu 37 5 101834355 101834355 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 101834355 101834355 C T SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.194 p.R65Q 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 268 0 0 136 75 35.545 WDR36 0 genome.wustl.edu 37 5 110436294 110436294 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 110436294 110436294 A G SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.584 p.Y195C 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 11 0 0 11 4 26.6667 APC 0 genome.wustl.edu 37 5 112174057 112174057 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 112174057 112174057 T C SNP APC ENST00000257430 human ensembl 74_37 +1 known silent c.2766 p.L922 0.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 60 0 0 31 9 22.5 FTMT 0 genome.wustl.edu 37 5 121187884 121187884 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 121187884 121187884 T C SNP FTMT ENST00000321339 human ensembl 74_37 +1 known missense c.226 p.S76P 0.906 superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 45 0 0 44 3 6.38298 CYSTM1 0 genome.wustl.edu 37 5 139574218 139574218 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 139574218 139574218 G T SNP CYSTM1 ENST00000261811 human ensembl 74_37 +1 known missense c.168 p.Q56H 1.000 NULL NULL - no_errors CYSTM1 HGNC ENSG00000120306 53 0 0 47 5 9.61538 PCDHA9 0 genome.wustl.edu 37 5 140229950 140229950 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 140229950 140229950 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1870 p.V624M 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 129 0 0 121 11 8.33333 PCDHA11 0 genome.wustl.edu 37 5 140249772 140249772 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 140249772 140249772 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1084 p.A362T 0.545 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 102 0 0 91 7 7.14286 PCDHB5 0 genome.wustl.edu 37 5 140516810 140516810 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 140516810 140516810 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.1794 p.N598 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 126 0 0 106 21 16.5354 PCDHB7 0 genome.wustl.edu 37 5 140552971 140552971 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 140552971 140552971 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.555 p.S185 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 68 0 0 61 9 12.8571 PCDHB11 0 genome.wustl.edu 37 5 140580496 140580496 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 140580496 140580496 T C SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known silent c.1149 p.C383 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 169 0 0 139 14 9.15033 PCDHGA1 0 genome.wustl.edu 37 5 140711907 140711907 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 140711907 140711907 G A SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known silent c.1656 p.L552 0.409 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 326 0 0 277 55 16.5663 PCDHGA10 0 genome.wustl.edu 37 5 140794641 140794641 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 140794641 140794641 G A SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known silent c.1899 p.A633 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 115 1 0.862069 80 40 33.3333 KIAA0141 0 genome.wustl.edu 37 5 141318154 141318154 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 141318154 141318154 A G SNP KIAA0141 ENST00000194118 human ensembl 74_37 +1 known missense c.1378 p.N460D 0.969 NULL pfam_Sel1-like,smart_Sel1-like - no_errors KIAA0141 HGNC ENSG00000081791 155 0 0 149 17 10.241 RBM27 0 genome.wustl.edu 37 5 145664188 145664188 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 145664188 145664188 G A SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known missense c.2992 p.A998T 0.998 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 101 1 0.980392 65 41 38.6792 JAKMIP2 0 genome.wustl.edu 37 5 147016541 147016541 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 147016541 147016541 G T SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.1601 p.A534D 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 246 0 0 121 119 49.5833 PDGFRB 0 genome.wustl.edu 37 5 149506146 149506146 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 149506146 149506146 G T SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known silent c.1611 p.A537 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 73 0 0 74 5 6.32911 TNIP1 0 genome.wustl.edu 37 5 150436498 150436498 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 150436498 150436498 A G SNP TNIP1 ENST00000315050 human ensembl 74_37 -1 known silent c.456 p.R152 0.000 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 46 0 0 43 16 27.1186 SLC36A1 0 genome.wustl.edu 37 5 150844683 150844683 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 150844683 150844683 A G SNP SLC36A1 ENST00000243389 human ensembl 74_37 +1 known silent c.372 p.L124 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 109 0 0 102 9 8.10811 THG1L 0 genome.wustl.edu 37 5 157166483 157166483 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 157166483 157166483 A G SNP THG1L ENST00000231198 human ensembl 74_37 +1 known missense c.890 p.D297G 1.000 pirsf_tRNAHis_GuaTrfase_Thg1 pfam_tRNAHis_GuaTrfase_cat,superfamily_Restrct_endonuc-II-like,pirsf_tRNAHis_GuaTrfase_Thg1 - no_errors THG1L HGNC ENSG00000113272 140 0 0 86 45 34.3511 SLIT3 0 genome.wustl.edu 37 5 168244441 168244441 + Nonsense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 168244441 168244441 G T SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known nonsense c.657 p.C219* 0.886 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 63 0 0 56 7 11.1111 FOXI1 0 genome.wustl.edu 37 5 169533358 169533358 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 169533358 169533358 G A SNP FOXI1 ENST00000306268 human ensembl 74_37 +1 known missense c.397 p.A133T 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 20 0 0 16 3 15.7895 KIAA1191 0 genome.wustl.edu 37 5 175777642 175777642 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 175777642 175777642 A C SNP KIAA1191 ENST00000298569 human ensembl 74_37 -1 known missense c.433 p.Y145D 1.000 NULL NULL - no_errors KIAA1191 HGNC ENSG00000122203 142 0 0 109 11 9.16667 PFN3 0 genome.wustl.edu 37 5 176827261 176827261 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 176827261 176827261 G A SNP PFN3 ENST00000358571 human ensembl 74_37 -1 known missense c.317 p.A106V 0.974 pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates - no_errors PFN3 HGNC ENSG00000196570 24 0 0 19 7 26.9231 DBN1 0 genome.wustl.edu 37 5 176885054 176885054 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 176885054 176885054 C T SNP DBN1 ENST00000512501 human ensembl 74_37 -1 putative missense c.977 p.R326Q 0.998 NULL NULL - no_errors DBN1 HGNC ENSG00000113758 130 0 0 102 15 12.8205 FLT4 0 genome.wustl.edu 37 5 180039544 180039544 + Nonsense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 180039544 180039544 C A SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known nonsense c.3499 p.E1167* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 146 1 0.680272 124 16 11.4286 CDH18 0 genome.wustl.edu 37 5 19503152 19503152 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 19503152 19503152 G A SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.1579 p.L527F 1.000 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 CDH18 HGNC ENSG00000145526 67 0 0 55 11 16.6667 IRX2 0 genome.wustl.edu 37 5 2749639 2749639 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 2749639 2749639 C T SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known missense c.512 p.R171H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 168 0 0 100 22 18.0328 RXFP3 0 genome.wustl.edu 37 5 33938167 33938167 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 33938167 33938167 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.1322 p.A441V 0.009 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 42 0 0 38 9 19.1489 SPEF2 0 genome.wustl.edu 37 5 35641676 35641676 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 35641676 35641676 T G SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.305 p.I102S 1.000 pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 85 0 0 67 6 8.21918 SPEF2 0 genome.wustl.edu 37 5 35641743 35641743 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 35641743 35641743 A G SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known silent c.372 p.T124 0.000 pfam_DUF1042 pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 62 0 0 51 3 5.55556 WDR70 0 genome.wustl.edu 37 5 37516665 37516665 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 37516665 37516665 G A SNP WDR70 ENST00000265107 human ensembl 74_37 +1 known missense c.890 p.G297E 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC ENSG00000082068 81 0 0 62 7 10.1449 CARD6 0 genome.wustl.edu 37 5 40853351 40853351 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 40853351 40853351 A G SNP CARD6 ENST00000254691 human ensembl 74_37 +1 known silent c.1917 p.R639 0.107 NULL pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 287 0 0 204 37 15.3527 RASGRF2 0 genome.wustl.edu 37 5 80388671 80388671 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 80388671 80388671 G A SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.1442 p.R481H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 129 0 0 89 19 17.5926 SEMA5A 0 genome.wustl.edu 37 5 9108296 9108296 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 9108296 9108296 G A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.2029 p.R677C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 33 0 0 26 4 13.3333 FAM81B 0 genome.wustl.edu 37 5 94749808 94749808 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 94749808 94749808 A G SNP FAM81B ENST00000283357 human ensembl 74_37 +1 known missense c.451 p.K151E 0.678 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 109 0 0 78 7 8.23529 SIM1 0 genome.wustl.edu 37 6 100838312 100838312 + Silent SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 100838312 100838312 A C SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known silent c.2226 p.T742 1.000 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 182 0 0 113 27 19.2857 GCM2 0 genome.wustl.edu 37 6 10874777 10874777 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 10874777 10874777 A G SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known silent c.972 p.F324 0.964 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 181 0 0 147 35 19.2308 NEDD9 0 genome.wustl.edu 37 6 11191400 11191400 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 11191400 11191400 T C SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known silent c.702 p.A234 0.000 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 88 0 0 78 8 9.30233 NEDD9 0 genome.wustl.edu 37 6 11213531 11213531 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 11213531 11213531 G A SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.442 p.P148S 0.088 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 59 0 0 59 5 7.8125 HIVEP1 0 genome.wustl.edu 37 6 12122666 12122666 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 12122666 12122666 G A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.2638 p.V880I 0.987 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 134 0 0 145 16 9.93789 TBC1D32 0 genome.wustl.edu 37 6 121452898 121452898 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 121452898 121452898 T A SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative missense c.2897 p.D966V 0.999 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 15 0 0 9 4 30.7692 HIVEP1 0 genome.wustl.edu 37 6 12164142 12164142 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 12164142 12164142 C T SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known silent c.7605 p.P2535 0.148 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 78 0 0 92 14 13.2075 HIVEP1 0 genome.wustl.edu 37 6 12164656 12164656 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 12164656 12164656 A G SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.8119 p.S2707G 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 88 0 0 73 9 10.9756 SERINC1 0 genome.wustl.edu 37 6 122768310 122768310 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 122768310 122768310 T C SNP SERINC1 ENST00000339697 human ensembl 74_37 -1 known silent c.951 p.G317 0.994 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC1 HGNC ENSG00000111897 168 0 0 119 21 15 NCOA7 0 genome.wustl.edu 37 6 126199499 126199499 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 126199499 126199499 A G SNP NCOA7 ENST00000368357 human ensembl 74_37 +1 known missense c.442 p.T148A 1.000 pfam_LysM_dom,smart_LysM_dom pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 38 0 0 33 6 15.3846 HBS1L 0 genome.wustl.edu 37 6 135360709 135360709 + Splice_Site SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 135360709 135360709 A G SNP HBS1L ENST00000367837 human ensembl 74_37 -1 known splice_site c.430+2 e4+2 1.000 - - - no_errors HBS1L HGNC ENSG00000112339 127 0 0 116 11 8.66142 MIR548A2 0 genome.wustl.edu 37 6 135560314 135560314 + RNA SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 135560314 135560314 T A SNP MIR548A2 ENST00000384956 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors MIR548A2 HGNC ENSG00000207689 75 0 0 53 6 10.1695 HIVEP2 0 genome.wustl.edu 37 6 143091156 143091156 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 143091156 143091156 T C SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.4720 p.T1574A 0.999 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 160 1 0.621118 113 16 12.4031 UTRN 0 genome.wustl.edu 37 6 145115062 145115062 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 145115062 145115062 C A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.9013 p.L3005I 1.000 pfam_EF-hand_dom_typ2,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 90 0 0 70 10 12.5 SYNE1 0 genome.wustl.edu 37 6 152686081 152686081 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 152686081 152686081 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.10046 p.Q3349P 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 92 0 0 58 13 18.3099 QKI 0 genome.wustl.edu 37 6 163986984 163986984 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 163986984 163986984 C A SNP QKI ENST00000361758 human ensembl 74_37 +1 known missense c.941 p.A314D 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 68 0 0 36 5 12.1951 MLLT4 0 genome.wustl.edu 37 6 168325765 168325765 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 168325765 168325765 A G SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known silent c.3072 p.A1024 0.403 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 59 0 0 50 6 10.7143 NUP153 0 genome.wustl.edu 37 6 17665556 17665556 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 17665556 17665556 T C SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.1129 p.T377A 0.787 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 103 0 0 105 6 5.40541 MBOAT1 0 genome.wustl.edu 37 6 20212446 20212446 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 20212446 20212446 G A SNP MBOAT1 ENST00000324607 human ensembl 74_37 -1 known missense c.20 p.P7L 0.068 NULL pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 44 0 0 31 3 8.82353 SCGN 0 genome.wustl.edu 37 6 25689706 25689706 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 25689706 25689706 T C SNP SCGN ENST00000377961 human ensembl 74_37 +1 known silent c.579 p.C193 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SCGN HGNC ENSG00000079689 142 0 0 132 11 7.69231 BTN3A1 0 genome.wustl.edu 37 6 26411795 26411795 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 26411795 26411795 C T SNP BTN3A1 ENST00000289361 human ensembl 74_37 +1 known missense c.1004 p.A335V 0.012 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN3A1 HGNC ENSG00000026950 116 0 0 89 17 16.0377 HIST1H2BJ 0 genome.wustl.edu 37 6 27100511 27100511 + Missense_Mutation SNP A A T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 27100511 27100511 A T SNP HIST1H2BJ ENST00000339812 human ensembl 74_37 -1 known missense c.19 p.S7T 0.947 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BJ HGNC ENSG00000124635 87 0 0 115 9 7.25806 ZNF184 0 genome.wustl.edu 37 6 27420527 27420527 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 27420527 27420527 T A SNP ZNF184 ENST00000211936 human ensembl 74_37 -1 known missense c.811 p.I271F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF184 HGNC ENSG00000096654 103 0 0 107 17 13.7097 NKAPL 0 genome.wustl.edu 37 6 28227462 28227462 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 28227462 28227462 C T SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known missense c.313 p.R105W 0.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 111 0 0 94 18 16.0714 OR2H1 0 genome.wustl.edu 37 6 29430469 29430469 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 29430469 29430469 A G SNP OR2H1 ENST00000377132 human ensembl 74_37 +1 known missense c.923 p.D308G 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2H1 HGNC ENSG00000204688 55 0 0 66 4 5.71429 LY6G5C 0 genome.wustl.edu 37 6 31644790 31644790 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 31644790 31644790 A G SNP LY6G5C ENST00000383237 human ensembl 74_37 -1 known missense c.397 p.Y133H 0.954 NULL NULL - no_errors LY6G5C HGNC ENSG00000204428 144 0 0 139 13 8.55263 VARS 0 genome.wustl.edu 37 6 31749699 31749699 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 31749699 31749699 G A SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.2272 p.R758C 0.973 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 226 1 0.440529 227 14 5.80913 GPSM3 0 genome.wustl.edu 37 6 32159673 32159673 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 32159673 32159673 C T SNP GPSM3 ENST00000375040 human ensembl 74_37 -1 known missense c.158 p.R53H 1.000 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors GPSM3 HGNC ENSG00000213654 57 0 0 49 7 12.5 NOTCH4 0 genome.wustl.edu 37 6 32184962 32184962 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 32184962 32184962 T C SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.1706 p.Q569R 1.000 pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 53 0 0 50 6 10.7143 HLA-DRA 0 genome.wustl.edu 37 6 32410459 32410459 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 32410459 32410459 C T SNP HLA-DRA ENST00000395388 human ensembl 74_37 +1 known missense c.317 p.P106L 0.145 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DRA HGNC ENSG00000204287 150 0 0 164 20 10.8696 DAXX 0 genome.wustl.edu 37 6 33289197 33289197 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 33289197 33289197 G A SNP DAXX ENST00000266000 human ensembl 74_37 -1 known missense c.355 p.R119W 1.000 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 138 0 0 129 9 6.52174 GRM4 0 genome.wustl.edu 37 6 34004301 34004301 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 34004301 34004301 C T SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.1586 p.R529Q 1.000 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 103 0 0 58 25 30.1205 C6orf106 0 genome.wustl.edu 37 6 34664302 34664302 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 34664302 34664302 G T SNP C6orf106 ENST00000374023 human ensembl 74_37 -1 known missense c.79 p.L27I 1.000 superfamily_UBA-like superfamily_UBA-like - no_errors C6orf106 HGNC ENSG00000196821 48 0 0 36 2 5.26316 UHRF1BP1 0 genome.wustl.edu 37 6 34826293 34826293 + Silent SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 34826293 34826293 C A SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known silent c.2160 p.A720 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 70 0 0 76 5 6.17284 ANKS1A 0 genome.wustl.edu 37 6 35048916 35048916 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 35048916 35048916 C T SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known missense c.2690 p.A897V 0.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 42 0 0 45 7 13.4615 CLPSL1 0 genome.wustl.edu 37 6 35754893 35754893 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 35754893 35754893 C T SNP CLPSL1 ENST00000373861 human ensembl 74_37 +1 known missense c.218 p.T73M 0.000 smart_Colipase,prints_Colipase smart_Colipase,prints_Colipase - no_errors CLPSL1 HGNC ENSG00000204140 27 0 0 33 2 5.71429 LHFPL5 0 genome.wustl.edu 37 6 35782436 35782436 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 35782436 35782436 C T SNP LHFPL5 ENST00000360215 human ensembl 74_37 +1 known missense c.526 p.R176C 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC ENSG00000197753 93 0 0 68 10 12.8205 SRPK1 0 genome.wustl.edu 37 6 35806549 35806549 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 35806549 35806549 T A SNP SRPK1 ENST00000373822 human ensembl 74_37 -1 known missense c.1393 p.I465L 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SRPK1 HGNC ENSG00000096063 146 0 0 166 19 10.2703 DNAH8 0 genome.wustl.edu 37 6 38998037 38998037 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 38998037 38998037 T C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.13342 p.Y4448H 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 107 0 0 102 15 12.8205 CUL7 0 genome.wustl.edu 37 6 43020479 43020479 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 43020479 43020479 G A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known silent c.204 p.P68 0.001 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 65 0 0 57 5 8.06452 PTK7 0 genome.wustl.edu 37 6 43098289 43098289 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 43098289 43098289 G A SNP PTK7 ENST00000230419 human ensembl 74_37 +1 known silent c.702 p.V234 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK7 HGNC ENSG00000112655 43 0 0 31 5 13.8889 MEP1A 0 genome.wustl.edu 37 6 46777201 46777201 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 46777201 46777201 C T SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known missense c.307 p.R103C 1.000 pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 158 1 0.628931 104 70 40.2299 GPR111 0 genome.wustl.edu 37 6 47649925 47649925 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 47649925 47649925 C A SNP GPR111 ENST00000296862 human ensembl 74_37 +1 known missense c.1630 p.L544I 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 59 0 0 65 7 9.72222 PAQR8 0 genome.wustl.edu 37 6 52268177 52268177 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 52268177 52268177 C T SNP PAQR8 ENST00000360726 human ensembl 74_37 +1 known missense c.166 p.R56C 1.000 NULL pfam_HlyIII-related,superfamily_C-type_lectin_fold - no_errors PAQR8 HGNC ENSG00000170915 107 0 0 124 11 8.14815 EFHC1 0 genome.wustl.edu 37 6 52343854 52343854 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 52343854 52343854 A G SNP EFHC1 ENST00000371068 human ensembl 74_37 +1 known missense c.1298 p.D433G 1.000 smart_Uncharacterised_DM10 pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC1 HGNC ENSG00000096093 99 0 0 85 15 15 FBXO9 0 genome.wustl.edu 37 6 52957292 52957292 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 52957292 52957292 C T SNP FBXO9 ENST00000244426 human ensembl 74_37 +1 known missense c.749 p.P250L 1.000 superfamily_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO9 HGNC ENSG00000112146 145 0 0 75 49 39.5161 DST 0 genome.wustl.edu 37 6 56469397 56469397 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 56469397 56469397 C A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.9930 p.Q3310H 0.007 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 191 0 0 178 19 9.64467 PHF3 0 genome.wustl.edu 37 6 64404538 64404538 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 64404538 64404538 C T SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.2564 p.P855L 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 204 0 0 147 17 10.3659 DOPEY1 0 genome.wustl.edu 37 6 83848666 83848666 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 83848666 83848666 A G SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known silent c.4905 p.T1635 0.990 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 88 0 0 80 7 8.04598 DOPEY1 0 genome.wustl.edu 37 6 83848693 83848693 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 83848693 83848693 G A SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known silent c.4932 p.V1644 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 92 0 0 82 12 12.766 C6orf165 0 genome.wustl.edu 37 6 88125515 88125515 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 88125515 88125515 G A SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.395 p.R132Q 1.000 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 86 0 0 51 7 12.069 EPHA7 0 genome.wustl.edu 37 6 94120211 94120211 + Nonstop_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 94120211 94120211 T G SNP EPHA7 ENST00000369297 human ensembl 74_37 -1 known nonstop c.840 p.*280Y 0.515 NULL pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom - no_errors EPHA7 HGNC ENSG00000135333 71 0 0 48 5 9.43396 DLD 0 genome.wustl.edu 37 7 107545454 107545454 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 107545454 107545454 C A SNP DLD ENST00000205402 human ensembl 74_37 +1 known missense c.389 p.A130E 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,tigrfam_Lipoamide_DH pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH - no_errors DLD HGNC ENSG00000091140 41 0 0 39 6 13.3333 NRCAM 0 genome.wustl.edu 37 7 107832191 107832191 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 107832191 107832191 C T SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known missense c.1885 p.A629T 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom 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_dom - no_errors NRCAM HGNC ENSG00000091129 62 0 0 47 7 12.963 THAP5 0 genome.wustl.edu 37 7 108205298 108205298 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 108205298 108205298 T C SNP THAP5 ENST00000415914 human ensembl 74_37 -1 known silent c.525 p.K175 0.004 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP5 HGNC ENSG00000177683 26 0 0 25 2 7.40741 PAX4 0 genome.wustl.edu 37 7 127254551 127254551 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 127254551 127254551 G A SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known missense c.397 p.R133W 0.176 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 12 0 0 14 3 17.6471 TMEM209 0 genome.wustl.edu 37 7 129832581 129832581 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 129832581 129832581 T C SNP TMEM209 ENST00000397622 human ensembl 74_37 -1 known missense c.656 p.Y219C 1.000 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC ENSG00000146842 61 0 0 56 4 6.66667 EXOC4 0 genome.wustl.edu 37 7 133622681 133622681 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 133622681 133622681 A G SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known missense c.2065 p.N689D 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 210 0 0 139 21 13.125 UBN2 0 genome.wustl.edu 37 7 138968847 138968847 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 138968847 138968847 T A SNP UBN2 ENST00000473989 human ensembl 74_37 +1 known missense c.3196 p.S1066T 1.000 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 130 0 0 112 8 6.66667 MGAM 0 genome.wustl.edu 37 7 141778780 141778780 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 141778780 141778780 A G SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative missense c.5819 p.Y1940C 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 43 0 0 27 4 12.9032 CASP2 0 genome.wustl.edu 37 7 143001855 143001855 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 143001855 143001855 C T SNP CASP2 ENST00000310447 human ensembl 74_37 +1 known silent c.1206 p.H402 0.842 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_p10 pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP2 HGNC ENSG00000106144 112 1 0.884956 75 4 5.06329 ZNF398 0 genome.wustl.edu 37 7 148863337 148863337 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 148863337 148863337 A G SNP ZNF398 ENST00000540950 human ensembl 74_37 +1 known missense c.523 p.N175D 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ENSG00000197024 98 0 0 66 6 8.33333 ASIC3 0 genome.wustl.edu 37 7 150746007 150746007 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 150746007 150746007 G A SNP ASIC3 ENST00000297512 human ensembl 74_37 +1 known missense c.35 p.R12Q 0.403 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 114 0 0 66 10 13.1579 PTPRN2 0 genome.wustl.edu 37 7 157985105 157985105 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 157985105 157985105 G T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.532 p.L178M 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 93 0 0 64 15 18.9873 AHR 0 genome.wustl.edu 37 7 17373617 17373617 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 17373617 17373617 T C SNP AHR ENST00000242057 human ensembl 74_37 +1 known silent c.787 p.L263 0.951 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors AHR HGNC ENSG00000106546 91 0 0 92 12 11.5385 EIF3B 0 genome.wustl.edu 37 7 2412376 2412376 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 2412376 2412376 C T SNP EIF3B ENST00000360876 human ensembl 74_37 +1 known missense c.1756 p.R586W 0.649 pfam_TIF_beta_prop-like,pirsf_EIF3B pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 97 0 0 72 10 12.1951 CREB5 0 genome.wustl.edu 37 7 28858731 28858731 + Splice_Site SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 28858731 28858731 A G SNP CREB5 ENST00000357727 human ensembl 74_37 +1 known splice_site c.1364-2 e11-2 1.000 - - - no_errors CREB5 HGNC ENSG00000146592 157 0 0 160 10 5.88235 POU6F2 0 genome.wustl.edu 37 7 39247128 39247128 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 39247128 39247128 A G SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known silent c.420 p.T140 0.998 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 88 0 0 120 15 11.1111 POU6F2 0 genome.wustl.edu 37 7 39472723 39472723 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 39472723 39472723 A C SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known missense c.1074 p.Q358H 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 81 0 0 77 12 13.4831 CDK13 0 genome.wustl.edu 37 7 39991418 39991418 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 39991418 39991418 G A SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.1178 p.R393H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 88 0 0 78 8 9.30233 CDK13 0 genome.wustl.edu 37 7 40027229 40027229 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 40027229 40027229 T C SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.1243 p.Y415H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 106 0 0 76 9 10.5882 DBNL 0 genome.wustl.edu 37 7 44091531 44091531 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 44091531 44091531 T C SNP DBNL ENST00000468694 human ensembl 74_37 +1 known missense c.242 p.L81P 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain - no_errors DBNL HGNC ENSG00000136279 72 0 0 61 11 15.2778 RNF216P1 0 genome.wustl.edu 37 7 5036611 5036611 + RNA SNP C C G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 5036611 5036611 C G SNP RNF216P1 ENST00000403969 human ensembl 74_37 +1 known rna NULL NULL 0.787 - - - no_errors RNF216P1 HGNC ENSG00000196204 11 0 0 8 7 46.6667 RBAK 0 genome.wustl.edu 37 7 5105149 5105149 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 5105149 5105149 T A SNP RBAK ENST00000353796 human ensembl 74_37 +1 known missense c.2062 p.F688I 0.999 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 RBAK HGNC ENSG00000146587 135 0 0 118 14 10.6061 POM121L12 0 genome.wustl.edu 37 7 53103594 53103594 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 53103594 53103594 T G SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.230 p.L77R 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 47 0 0 52 8 13.3333 TNRC18 0 genome.wustl.edu 37 7 5355614 5355614 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 5355614 5355614 G T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.6835 p.L2279I 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 48 0 0 43 4 8.51064 ACTB 0 genome.wustl.edu 37 7 5567657 5567657 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 5567657 5567657 G A SNP ACTB ENST00000331789 human ensembl 74_37 -1 known missense c.962 p.A321V 0.999 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTB HGNC ENSG00000075624 136 0 0 124 13 9.48905 PCLO 0 genome.wustl.edu 37 7 82389956 82389956 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 82389956 82389956 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.15287 p.Q5096R 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 90 0 0 65 6 8.4507 PCLO 0 genome.wustl.edu 37 7 82578809 82578809 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 82578809 82578809 A G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11095 p.Y3699H 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 215 0 0 193 21 9.81308 SAMD9 0 genome.wustl.edu 37 7 92732286 92732286 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 92732286 92732286 T C SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.3125 p.E1042G 0.994 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 75 0 0 47 12 20.339 SAMD9L 0 genome.wustl.edu 37 7 92764562 92764562 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 92764562 92764562 G A SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known silent c.723 p.V241 0.281 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 116 0 0 76 13 14.6067 CCDC132 0 genome.wustl.edu 37 7 92970845 92970845 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 92970845 92970845 C T SNP CCDC132 ENST00000305866 human ensembl 74_37 +1 known missense c.2165 p.T722M 0.998 NULL pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 90 0 0 56 12 17.6471 CALCR 0 genome.wustl.edu 37 7 93072923 93072923 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 93072923 93072923 C A SNP CALCR ENST00000359558 human ensembl 74_37 -1 known missense c.897 p.L299F 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCR HGNC ENSG00000004948 65 0 0 62 4 6.06061 GET4 0 genome.wustl.edu 37 7 935043 935043 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 935043 935043 C A SNP GET4 ENST00000265857 human ensembl 74_37 +1 known missense c.968 p.P323H 1.000 NULL pfam_UPF0363 - no_errors GET4 HGNC ENSG00000239857 76 0 0 85 5 5.55556 PPP1R9A 0 genome.wustl.edu 37 7 94791244 94791244 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 94791244 94791244 T G SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.1715 p.F572C 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 44 0 0 37 6 13.9535 MBLAC1 0 genome.wustl.edu 37 7 99725164 99725164 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 99725164 99725164 C T SNP MBLAC1 ENST00000398075 human ensembl 74_37 +1 known missense c.146 p.P49L 0.967 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors MBLAC1 HGNC ENSG00000214309 22 0 0 13 3 18.75 GPC2 0 genome.wustl.edu 37 7 99771477 99771477 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 99771477 99771477 A G SNP GPC2 ENST00000292377 human ensembl 74_37 -1 known silent c.873 p.P291 0.978 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 448 0 0 299 17 5.37975 SOX7 0 genome.wustl.edu 37 8 10583650 10583650 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 10583650 10583650 G T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.921 p.H307Q 0.980 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 53 0 0 33 6 15.3846 PKHD1L1 0 genome.wustl.edu 37 8 110523098 110523098 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 110523098 110523098 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.11488 p.V3830I 0.997 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 162 0 0 145 27 15.6977 KCNQ3 0 genome.wustl.edu 37 8 133146587 133146587 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 133146587 133146587 C A SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.1749 p.K583N 1.000 pfam_K_chnl_volt-dep_KCNQ_C,prints_K_chnl_volt-dep_KCNQ3 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 90 0 0 63 13 17.1053 TG 0 genome.wustl.edu 37 8 133919106 133919106 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 133919106 133919106 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.3808 p.R1270C 0.226 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 41 0 0 29 8 21.6216 TG 0 genome.wustl.edu 37 8 133945896 133945896 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 133945896 133945896 A G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.4907 p.N1636S 0.003 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 137 0 0 123 10 7.5188 AGO2 0 genome.wustl.edu 37 8 141551408 141551408 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 141551408 141551408 C T SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.1889 p.R630H 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 28 0 0 24 2 7.69231 ZC3H3 0 genome.wustl.edu 37 8 144522356 144522356 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 144522356 144522356 T C SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known silent c.2670 p.A890 0.003 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 25 0 0 13 2 13.3333 ZNF707 0 genome.wustl.edu 37 8 144776211 144776211 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 144776211 144776211 C T SNP ZNF707 ENST00000358656 human ensembl 74_37 +1 known silent c.627 p.C209 0.910 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF707 HGNC ENSG00000181135 31 0 0 19 3 13.6364 SPATC1 0 genome.wustl.edu 37 8 145095792 145095792 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 145095792 145095792 C A SNP SPATC1 ENST00000377470 human ensembl 74_37 +1 known missense c.1090 p.P364T 0.000 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 37 0 0 40 10 20 CPSF1 0 genome.wustl.edu 37 8 145623307 145623307 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 145623307 145623307 G T SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known silent c.1935 p.P645 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 66 0 0 47 8 14.5455 MIR596 0 genome.wustl.edu 37 8 1765460 1765460 + RNA SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 1765460 1765460 C T SNP MIR596 ENST00000385091 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR596 HGNC ENSG00000207826 50 0 0 42 5 10.6383 INTS10 0 genome.wustl.edu 37 8 19675752 19675752 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 19675752 19675752 G A SNP INTS10 ENST00000522114 human ensembl 74_37 +1 known silent c.177 p.G59 0.000 NULL NULL - no_errors INTS10 HGNC ENSG00000104613 114 0 0 101 17 14.4068 MYOM2 0 genome.wustl.edu 37 8 2033439 2033439 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 2033439 2033439 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.1561 p.E521K 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 72 0 0 64 8 11.1111 GFRA2 0 genome.wustl.edu 37 8 21560366 21560366 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 21560366 21560366 T C SNP GFRA2 ENST00000517328 human ensembl 74_37 -1 known missense c.1169 p.D390G 1.000 pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt_a2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC ENSG00000168546 46 0 0 34 7 17.0732 DMTN 0 genome.wustl.edu 37 8 21925174 21925174 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 21925174 21925174 A G SNP DMTN ENST00000265800 human ensembl 74_37 +1 known missense c.230 p.E77G 1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 90 0 0 74 4 5.12821 NUDT18 0 genome.wustl.edu 37 8 21965115 21965115 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 21965115 21965115 G T SNP NUDT18 ENST00000309188 human ensembl 74_37 -1 known missense c.668 p.P223H 0.125 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase - no_errors NUDT18 HGNC ENSG00000173566 97 0 0 89 6 6.31579 DCTN6 0 genome.wustl.edu 37 8 30040606 30040606 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 30040606 30040606 C A SNP DCTN6 ENST00000221114 human ensembl 74_37 +1 known missense c.490 p.L164M 1.000 superfamily_Trimer_LpxA-like superfamily_Trimer_LpxA-like - no_errors DCTN6 HGNC ENSG00000104671 84 0 0 78 7 8.23529 TEX15 0 genome.wustl.edu 37 8 30695503 30695503 + Nonsense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 30695503 30695503 A C SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known nonsense c.7148 p.L2383* 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 162 0 0 140 19 11.9497 TEX15 0 genome.wustl.edu 37 8 30703164 30703164 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 30703164 30703164 C T SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.3370 p.G1124R 0.018 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 86 0 0 79 5 5.95238 SFRP1 0 genome.wustl.edu 37 8 41164302 41164302 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 41164302 41164302 C T SNP SFRP1 ENST00000379845 human ensembl 74_37 -1 putative silent c.75 p.A25 0.000 NULL pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain - no_errors SFRP1 HGNC ENSG00000104332 35 0 0 19 4 17.3913 KAT6A 0 genome.wustl.edu 37 8 41801380 41801380 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 41801380 41801380 T G SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.2114 p.H705P 1.000 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 95 0 0 88 10 10.2041 UBE2V2 0 genome.wustl.edu 37 8 48962467 48962467 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 48962467 48962467 C A SNP UBE2V2 ENST00000523111 human ensembl 74_37 +1 known missense c.220 p.P74T 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2V2 HGNC ENSG00000169139 62 0 0 74 5 6.32911 RP1 0 genome.wustl.edu 37 8 55537275 55537275 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 55537275 55537275 T C SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.833 p.V278A 0.943 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 78 0 0 56 10 15.1515 PDE7A 0 genome.wustl.edu 37 8 66659908 66659908 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 66659908 66659908 A G SNP PDE7A ENST00000401827 human ensembl 74_37 -1 known silent c.414 p.D138 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7A HGNC ENSG00000205268 38 0 0 41 10 19.6078 CSPP1 0 genome.wustl.edu 37 8 68092151 68092151 + Missense_Mutation SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 68092151 68092151 T G SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known missense c.3195 p.S1065R 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 77 0 0 39 19 32.7586 PREX2 0 genome.wustl.edu 37 8 68931905 68931905 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 68931905 68931905 T C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.335 p.F112S 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 51 0 0 49 6 10.9091 LOC100132891 0 genome.wustl.edu 37 8 72967578 72967578 + RNA SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 72967578 72967578 A C SNP LOC100132891 ENST00000457356 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 17 0 0 8 4 33.3333 ZNF189 0 genome.wustl.edu 37 9 104170334 104170334 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 104170334 104170334 C A SNP ZNF189 ENST00000339664 human ensembl 74_37 +1 known missense c.284 p.P95H 0.996 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 ZNF189 HGNC ENSG00000136870 55 0 0 55 3 5.17241 OR13C2 0 genome.wustl.edu 37 9 107367621 107367621 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 107367621 107367621 G T SNP OR13C2 ENST00000542196 human ensembl 74_37 -1 known silent c.288 p.G96 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC ENSG00000257019 156 0 0 124 7 5.34351 ABCA1 0 genome.wustl.edu 37 9 107591376 107591376 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 107591376 107591376 G A SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known silent c.1936 p.L646 0.882 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 62 0 0 37 9 19.5652 ZNF883 0 genome.wustl.edu 37 9 115759835 115759835 + RNA SNP T T G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 115759835 115759835 T G SNP ZNF883 ENST00000427548 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF883 HGNC ENSG00000228623 40 0 0 44 4 8.33333 RGS3 0 genome.wustl.edu 37 9 116279845 116279845 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 116279845 116279845 C T SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.1699 p.R567W 1.000 NULL pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 135 0 0 96 15 13.5135 COL27A1 0 genome.wustl.edu 37 9 116930295 116930295 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 116930295 116930295 G A SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.460 p.G154R 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 48 0 0 49 10 16.9492 DFNB31 0 genome.wustl.edu 37 9 117266634 117266634 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 117266634 117266634 C T SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.448 p.E150K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 93 0 0 89 15 14.4231 PAPPA 0 genome.wustl.edu 37 9 118989725 118989725 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 118989725 118989725 A G SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known silent c.2127 p.A709 1.000 superfamily_Fibronectin_type3 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 178 0 0 137 25 15.4321 ASTN2 0 genome.wustl.edu 37 9 119737575 119737575 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 119737575 119737575 A C SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.1801 p.F601V 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 116 0 0 93 9 8.82353 TLR4 0 genome.wustl.edu 37 9 120475722 120475722 + Missense_Mutation SNP A A T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 120475722 120475722 A T SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.1316 p.E439V 0.001 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp 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,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 112 0 0 85 30 26.087 DAB2IP 0 genome.wustl.edu 37 9 124543823 124543823 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 124543823 124543823 A G SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.3395 p.D1132G 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 94 0 0 57 17 22.973 MORN5 0 genome.wustl.edu 37 9 124936902 124936902 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 124936902 124936902 C T SNP MORN5 ENST00000536616 human ensembl 74_37 +1 known silent c.435 p.N145 0.972 NULL pfam_MORN,smart_MORN - no_errors MORN5 HGNC ENSG00000185681 121 0 0 88 13 12.8713 OR1L8 0 genome.wustl.edu 37 9 125330470 125330470 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 125330470 125330470 G A SNP OR1L8 ENST00000304865 human ensembl 74_37 -1 known missense c.287 p.A96V 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L8 HGNC ENSG00000171496 72 0 0 74 9 10.8434 GAPVD1 0 genome.wustl.edu 37 9 128064717 128064717 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 128064717 128064717 A G SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known missense c.641 p.H214R 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,pfscan_RasGAP pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 52 0 0 38 9 19.1489 GAPVD1 0 genome.wustl.edu 37 9 128099344 128099344 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 128099344 128099344 G A SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known missense c.2557 p.A853T 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 79 0 0 78 11 12.3596 PIP5KL1 0 genome.wustl.edu 37 9 130689470 130689470 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 130689470 130689470 C T SNP PIP5KL1 ENST00000300432 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5KL1 HGNC ENSG00000167103 35 0 0 30 2 6.25 ASB6 0 genome.wustl.edu 37 9 132401727 132401727 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 132401727 132401727 A G SNP ASB6 ENST00000277458 human ensembl 74_37 -1 known missense c.356 p.V119A 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB6 HGNC ENSG00000148331 47 0 0 31 7 18.4211 MED22 0 genome.wustl.edu 37 9 136208461 136208461 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 136208461 136208461 A G SNP MED22 ENST00000343730 human ensembl 74_37 -1 known missense c.497 p.L166P 0.998 NULL pfam_Mediator_Med22 - no_errors MED22 HGNC ENSG00000148297 42 0 0 28 5 15.1515 BRD3 0 genome.wustl.edu 37 9 136913497 136913497 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 136913497 136913497 G A SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known missense c.794 p.P265L 0.996 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 110 0 0 83 15 15.3061 COL5A1 0 genome.wustl.edu 37 9 137726910 137726910 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 137726910 137726910 T C SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.5230 p.Y1744H 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 40 0 0 32 3 8.57143 KCNT1 0 genome.wustl.edu 37 9 138651627 138651627 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 138651627 138651627 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known silent c.957 p.D319 0.992 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 63 0 0 50 8 13.7931 LCN8 0 genome.wustl.edu 37 9 139651016 139651016 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 139651016 139651016 C T SNP LCN8 ENST00000371688 human ensembl 74_37 -1 known missense c.184 p.V62M 0.042 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_errors LCN8 HGNC ENSG00000204001 147 0 0 122 18 12.8571 TUBB4B 0 genome.wustl.edu 37 9 140137547 140137547 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 140137547 140137547 A G SNP TUBB4B ENST00000340384 human ensembl 74_37 +1 known missense c.877 p.M293V 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB4B HGNC ENSG00000188229 86 0 0 77 17 18.0851 PSIP1 0 genome.wustl.edu 37 9 15510205 15510205 + RNA SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 15510205 15510205 G A SNP PSIP1 ENST00000463712 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors PSIP1 HGNC ENSG00000164985 113 0 0 90 14 13.4615 LINGO2 0 genome.wustl.edu 37 9 27948864 27948864 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 27948864 27948864 G T SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.1806 p.N602K 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 123 0 0 95 18 15.9292 RFX3 0 genome.wustl.edu 37 9 3330369 3330369 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 3330369 3330369 C T SNP RFX3 ENST00000382004 human ensembl 74_37 -1 known missense c.364 p.V122I 1.000 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 80 0 0 65 21 24.4186 AQP7 0 genome.wustl.edu 37 9 33386990 33386990 + Missense_Mutation SNP A A C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 33386990 33386990 A C SNP AQP7 ENST00000297988 human ensembl 74_37 -1 known missense c.245 p.V82G 0.518 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP7 HGNC ENSG00000165269 185 0 0 156 10 6.0241 RUSC2 0 genome.wustl.edu 37 9 35547010 35547010 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 35547010 35547010 T A SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.492 p.S164R 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 64 0 0 58 6 9.375 OR13J1 0 genome.wustl.edu 37 9 35869594 35869594 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 35869594 35869594 T C SNP OR13J1 ENST00000377981 human ensembl 74_37 -1 known missense c.805 p.I269V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13J1 HGNC ENSG00000168828 60 0 0 56 6 9.67742 CNTNAP3 0 genome.wustl.edu 37 9 39103747 39103747 + Missense_Mutation SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 39103747 39103747 G T SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known missense c.2530 p.L844M 0.997 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 40 0 0 39 7 15.2174 PRKACG 0 genome.wustl.edu 37 9 71628021 71628021 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 71628021 71628021 C T SNP PRKACG ENST00000377276 human ensembl 74_37 -1 known missense c.988 p.D330N 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 135 0 0 87 9 9.375 NMRK1 0 genome.wustl.edu 37 9 77684723 77684723 + Silent SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 77684723 77684723 A G SNP NMRK1 ENST00000361092 human ensembl 74_37 -1 known silent c.324 p.L108 0.071 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,prints_Uridine_kinase - no_errors NMRK1 HGNC ENSG00000106733 81 0 0 49 13 20.9677 PTPRD 0 genome.wustl.edu 37 9 8339045 8339045 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 8339045 8339045 C A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.5256 p.E1752D 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 41 0 0 33 8 19.5122 GOLM1 0 genome.wustl.edu 37 9 88655669 88655669 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 88655669 88655669 G A SNP GOLM1 ENST00000388711 human ensembl 74_37 -1 known silent c.582 p.N194 0.000 NULL NULL - no_errors GOLM1 HGNC ENSG00000135052 75 0 0 60 14 18.9189 PHF2 0 genome.wustl.edu 37 9 96425855 96425855 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 96425855 96425855 G A SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known silent c.1875 p.S625 0.053 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 80 0 0 58 16 21.6216 NUTM2G 0 genome.wustl.edu 37 9 99697671 99697671 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 99697671 99697671 C T SNP NUTM2G ENST00000372322 human ensembl 74_37 +1 known missense c.775 p.R259W 0.030 NULL NULL - no_errors NUTM2G HGNC ENSG00000188152 119 0 0 78 15 16.129 TRMT2B 0 genome.wustl.edu 37 X 100297270 100297270 + Silent SNP G G T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 100297270 100297270 G T SNP TRMT2B ENST00000372935 human ensembl 74_37 -1 known silent c.9 p.G3 0.000 NULL pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC ENSG00000188917 109 0 0 57 8 12.3077 TAF7L 0 genome.wustl.edu 37 X 100536708 100536708 + Silent SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 100536708 100536708 C T SNP TAF7L ENST00000372907 human ensembl 74_37 -1 known silent c.720 p.K240 1.000 pfam_TAFII55_prot_cons_reg pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 204 0 0 156 23 12.8492 GPRASP1 0 genome.wustl.edu 37 X 101910109 101910109 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 101910109 101910109 T C SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.1268 p.I423T 0.001 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 131 0 0 88 17 16.1905 GPRASP2 0 genome.wustl.edu 37 X 101970627 101970627 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 101970627 101970627 A G SNP GPRASP2 ENST00000332262 human ensembl 74_37 +1 known missense c.830 p.Y277C 0.058 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 214 0 0 152 25 14.1243 TCEAL1 0 genome.wustl.edu 37 X 102885195 102885195 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 102885195 102885195 A G SNP TCEAL1 ENST00000372624 human ensembl 74_37 +1 known missense c.351 p.I117M 0.963 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL1 HGNC ENSG00000172465 100 0 0 63 4 5.97015 CHRDL1 0 genome.wustl.edu 37 X 109922617 109922617 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 109922617 109922617 T C SNP CHRDL1 ENST00000372042 human ensembl 74_37 -1 known missense c.1193 p.K398R 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 104 0 0 79 11 12.2222 TRPC5 0 genome.wustl.edu 37 X 111020035 111020035 + Missense_Mutation SNP C C A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 111020035 111020035 C A SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.2428 p.G810W 0.307 prints_TRPC5_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 274 0 0 177 36 16.9014 HS6ST2 0 genome.wustl.edu 37 X 131762948 131762948 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 131762948 131762948 G A SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known missense c.1241 p.P414L 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 65 0 0 42 6 12.5 GPR112 0 genome.wustl.edu 37 X 135427817 135427817 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 135427817 135427817 G A SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.1952 p.S651N 0.016 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 112 0 0 76 6 7.31707 PLXNB3 0 genome.wustl.edu 37 X 153039391 153039391 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 153039391 153039391 G A SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known silent c.3426 p.P1142 0.000 superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 157 0 0 105 7 6.25 IRAK1 0 genome.wustl.edu 37 X 153282031 153282031 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 153282031 153282031 T C SNP IRAK1 ENST00000369980 human ensembl 74_37 -1 known missense c.1093 p.S365G 0.992 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK1 HGNC ENSG00000184216 69 0 0 58 4 6.45161 MAP3K15 0 genome.wustl.edu 37 X 19391803 19391803 + Silent SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 19391803 19391803 G A SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known silent c.2784 p.R928 0.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K15 HGNC ENSG00000180815 27 0 0 18 3 14.2857 DMD 0 genome.wustl.edu 37 X 31893303 31893303 + Splice_Site SNP A A T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 31893303 31893303 A T SNP DMD ENST00000357033 human ensembl 74_37 -1 known splice_site c.7098+2 e48+2 0.986 - - - no_errors DMD HGNC ENSG00000198947 31 0 0 20 4 16.6667 DMD 0 genome.wustl.edu 37 X 32328290 32328290 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 32328290 32328290 T C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.6026 p.Q2009R 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 98 0 0 72 4 5.26316 MAGEB16 0 genome.wustl.edu 37 X 35820536 35820536 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 35820536 35820536 G A SNP MAGEB16 ENST00000399992 human ensembl 74_37 +1 known missense c.319 p.V107I 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC ENSG00000189023 23 0 0 16 8 33.3333 AKAP4 0 genome.wustl.edu 37 X 49957452 49957452 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 49957452 49957452 G A SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known missense c.1912 p.L638F 0.782 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 225 0 0 127 19 13.0137 CCNB3 0 genome.wustl.edu 37 X 50055619 50055619 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 50055619 50055619 T C SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.3410 p.M1137T 1.000 pfam_Cyclin_N,superfamily_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 126 0 0 85 8 8.60215 BMP15 0 genome.wustl.edu 37 X 50659507 50659507 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 50659507 50659507 A G SNP BMP15 ENST00000252677 human ensembl 74_37 +1 known missense c.1079 p.Y360C 0.978 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP15 HGNC ENSG00000130385 134 0 0 87 6 6.45161 ITIH6 0 genome.wustl.edu 37 X 54784484 54784484 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 54784484 54784484 T C SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known missense c.2023 p.T675A 0.000 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 109 0 0 76 15 16.4835 LAS1L 0 genome.wustl.edu 37 X 64738227 64738227 + Missense_Mutation SNP A A G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 64738227 64738227 A G SNP LAS1L ENST00000374811 human ensembl 74_37 -1 known missense c.1567 p.S523P 0.003 NULL pfam_Las1 - no_errors LAS1L HGNC ENSG00000001497 141 0 0 104 6 5.45455 STARD8 0 genome.wustl.edu 37 X 67941391 67941391 + Missense_Mutation SNP T T A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 67941391 67941391 T A SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.2262 p.D754E 0.397 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 106 0 0 56 5 8.19672 P2RY4 0 genome.wustl.edu 37 X 69478742 69478742 + Missense_Mutation SNP G G A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 69478742 69478742 G A SNP P2RY4 ENST00000374519 human ensembl 74_37 -1 known missense c.733 p.R245C 0.935 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 47 0 0 38 4 9.52381 KIAA2022 0 genome.wustl.edu 37 X 73960013 73960013 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 73960013 73960013 T C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.4379 p.E1460G 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 123 0 0 81 6 6.89655 POF1B 0 genome.wustl.edu 37 X 84562199 84562199 + Silent SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 84562199 84562199 T C SNP POF1B ENST00000373145 human ensembl 74_37 -1 known silent c.1134 p.A378 1.000 NULL NULL - no_errors POF1B HGNC ENSG00000124429 37 0 0 35 3 7.89474 CHM 0 genome.wustl.edu 37 X 85166342 85166342 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 85166342 85166342 T C SNP CHM ENST00000357749 human ensembl 74_37 -1 known missense c.1168 p.M390V 1.000 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 37 0 0 24 2 7.69231 PCDH11X 0 genome.wustl.edu 37 X 91133620 91133620 + Missense_Mutation SNP T T C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 91133620 91133620 T C SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.2381 p.V794A 0.384 pfam_Protocadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 143 1 0.694444 101 24 19.2 GPR143 0 genome.wustl.edu 37 X 9716642 9716642 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 9716642 9716642 C T SNP GPR143 ENST00000380929 human ensembl 74_37 -1 known missense c.580 p.A194T 0.009 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC ENSG00000101850 61 0 0 46 9 16.3636 PCDH19 0 genome.wustl.edu 37 X 99551676 99551676 + Missense_Mutation SNP C C T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 99551676 99551676 C T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.3046 p.A1016T 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 88 0 0 71 8 10.1266 SPAG17 0 genome.wustl.edu 37 1 118693198 118693199 + Frame_Shift_Ins INS - - T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 118693198 118693199 - T INS SPAG17 ENST00000336338 human ensembl 74_37 -1 known frame_shift_ins c.283_282 p.P94fs 0.000:0.043 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 126 0 0 100 10 9.09091 LCE2B 0 genome.wustl.edu 37 1 152659476 152659476 + Frame_Shift_Del DEL G G - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 152659476 152659476 G - DEL LCE2B ENST00000368780 human ensembl 74_37 +1 known frame_shift_del c.157 p.G54fs 0.994 NULL NULL - no_errors LCE2B HGNC ENSG00000159455 275 0 0 279 15 5.10204 KIRREL 0 genome.wustl.edu 37 1 158058203 158058203 + Frame_Shift_Del DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 158058203 158058203 C - DEL KIRREL ENST00000368173 human ensembl 74_37 +1 known frame_shift_del c.1003 p.L337fs 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 155 0 0 96 13 11.9266 AIM2 0 genome.wustl.edu 37 1 159032487 159032487 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 159032487 159032487 T - DEL AIM2 ENST00000368130 human ensembl 74_37 -1 known frame_shift_del c.1027 p.T343fs 0.001 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 55 0 0 39 9 18.75 EPHA2 0 genome.wustl.edu 37 1 16456043 16456044 + Frame_Shift_Ins INS - - C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 16456043 16456044 - C INS EPHA2 ENST00000358432 human ensembl 74_37 -1 known frame_shift_ins c.2711_2710 p.V904fs 0.994:0.873 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_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_N_dom,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_dom - no_errors EPHA2 HGNC ENSG00000142627 74 0 0 54 5 8.47458 LAMC1 0 genome.wustl.edu 37 1 183083734 183083734 + Frame_Shift_Del DEL G G - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 183083734 183083734 G - DEL LAMC1 ENST00000258341 human ensembl 74_37 +1 known frame_shift_del c.1090 p.G365fs 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 197 0 0 171 27 13.6364 KMO 0 genome.wustl.edu 37 1 241753558 241753558 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 241753558 241753558 A - DEL KMO ENST00000366559 human ensembl 74_37 +1 known frame_shift_del c.1253 p.K420fs 1.000 NULL pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 143 0 0 118 24 16.9014 AHCTF1 0 genome.wustl.edu 37 1 247007222 247007222 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 247007222 247007222 T - DEL AHCTF1 ENST00000326225 human ensembl 74_37 -1 known frame_shift_del c.6427 p.I2143fs 0.539 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 39 0 0 40 7 14.8936 UBXN11 0 genome.wustl.edu 37 1 26610655 26610655 + Frame_Shift_Del DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 26610655 26610655 C - DEL UBXN11 ENST00000374221 human ensembl 74_37 -1 known frame_shift_del c.1055 p.G352fs 1.000 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 268 0 0 183 13 6.63265 ARID1A 0 genome.wustl.edu 37 1 27097622 27097622 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 27097622 27097622 A - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.3211 p.K1072fs 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 68 0 0 48 8 14.2857 RERE 0 genome.wustl.edu 37 1 8716211 8716211 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 8716211 8716211 T - DEL RERE ENST00000337907 human ensembl 74_37 -1 known frame_shift_del c.146 p.N49fs 1.000 NULL pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 525 0 0 403 41 9.23423 CDC7 0 genome.wustl.edu 37 1 91967357 91967357 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 1 91967357 91967357 A - DEL CDC7 ENST00000234626 human ensembl 74_37 +1 known frame_shift_del c.84 p.N31fs 0.083 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDC7 HGNC ENSG00000097046 117 0 0 97 8 7.61905 KIAA1598 0 genome.wustl.edu 37 10 118719757 118719757 + RNA DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 118719757 118719757 A - DEL KIAA1598 ENST00000490615 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA1598 HGNC ENSG00000187164 41 0 0 38 4 9.52381 WDR11 0 genome.wustl.edu 37 10 122668353 122668354 + RNA INS - - AAGA TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 122668353 122668354 - AAGA INS WDR11 ENST00000604509 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WDR11 HGNC ENSG00000120008 12 0 0 7 4 36.3636 RET 0 genome.wustl.edu 37 10 43619164 43619164 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 43619164 43619164 A - DEL RET ENST00000355710 human ensembl 74_37 +1 known frame_shift_del c.2847 p.N950fs 0.996 pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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_dom pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 191 0 0 157 15 8.72093 GDF10 0 genome.wustl.edu 37 10 48429026 48429027 + Frame_Shift_Ins INS - - G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 48429026 48429027 - G INS GDF10 ENST00000224605 human ensembl 74_37 -1 known frame_shift_ins c.860_859 p.R287fs 0.991:0.991 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC ENSG00000107623 21 0 0 16 5 23.8095 PSAP 0 genome.wustl.edu 37 10 73579295 73579295 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 10 73579295 73579295 T - DEL PSAP ENST00000394934 human ensembl 74_37 -1 known frame_shift_del c.1283 p.N428fs 1.000 pirsf_Saposin_chordata,pfam_SapB_1,superfamily_Saposin-like,smart_SaposinB,prints_Saposin,pfscan_SaposinB pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAP HGNC ENSG00000197746 107 0 0 89 11 11 CCDC153 0 genome.wustl.edu 37 11 119061042 119061043 + Frame_Shift_Ins INS - - G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 119061042 119061043 - G INS CCDC153 ENST00000415318 human ensembl 74_37 -1 known frame_shift_ins c.600_599 p.G201fs 1.000:1.000 NULL superfamily_t-SNARE - no_errors CCDC153 HGNC ENSG00000248712 223 0 0 205 21 9.29204 NTM 0 genome.wustl.edu 37 11 131240691 131240692 + RNA INS - - A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 131240691 131240692 - A INS NTM ENST00000477098 human ensembl 74_37 +1 putative rna NULL NULL 0.607:0.619 - - - no_errors NTM HGNC ENSG00000182667 58 0 0 54 8 12.9032 SLC22A20 0 genome.wustl.edu 37 11 64981480 64981481 + RNA INS - - C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 64981480 64981481 - C INS SLC22A20 ENST00000525264 human ensembl 74_37 +1 known rna NULL NULL 0.964:0.963 - - - no_errors SLC22A20 HGNC ENSG00000197847 30 0 0 25 2 7.40741 RIC3 0 genome.wustl.edu 37 11 8160039 8160039 + RNA DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 11 8160039 8160039 A - DEL RIC3 ENST00000524799 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RIC3 HGNC ENSG00000166405 9 0 0 6 3 33.3333 TAS2R8 0 genome.wustl.edu 37 12 10958846 10958846 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 10958846 10958846 A - DEL TAS2R8 ENST00000240615 human ensembl 74_37 -1 known frame_shift_del c.734 p.F245fs 0.001 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R8 HGNC ENSG00000121314 51 0 0 26 7 21.2121 PLEKHA5 0 genome.wustl.edu 37 12 19410381 19410381 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 19410381 19410381 A - DEL PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known frame_shift_del c.447 p.V152fs 0.510 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 103 0 0 66 11 14.2857 KIF21A 0 genome.wustl.edu 37 12 39745580 39745580 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 39745580 39745580 T - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.1672 p.R558fs 1.000 superfamily_ARM-type_fold pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 35 0 0 44 9 16.9811 PUS7L 0 genome.wustl.edu 37 12 44142361 44142361 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 44142361 44142361 A - DEL PUS7L ENST00000344862 human ensembl 74_37 -1 known frame_shift_del c.962 p.L321fs 1.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,tigrfam_PsdUridine_synth_TruD pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7L HGNC ENSG00000129317 100 0 0 95 5 5 COL2A1 0 genome.wustl.edu 37 12 48371411 48371411 + Frame_Shift_Del DEL G G - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 48371411 48371411 G - DEL COL2A1 ENST00000380518 human ensembl 74_37 -1 known frame_shift_del c.3137 p.P1046fs 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 82 0 0 58 6 9.375 OR6C76 0 genome.wustl.edu 37 12 55820958 55820959 + Frame_Shift_Ins INS - - A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 55820958 55820959 - A INS OR6C76 ENST00000328314 human ensembl 74_37 +1 known frame_shift_ins c.921_922 p.K311fs 0.003:0.016 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC ENSG00000185821 41 0 0 37 3 7.5 STAT2 0 genome.wustl.edu 37 12 56742816 56742817 + Frame_Shift_Ins INS - - G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 56742816 56742817 - G INS STAT2 ENST00000314128 human ensembl 74_37 -1 known frame_shift_ins c.1468_1467 p.K489fs 0.000:0.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 130 0 0 106 16 13.1148 GLI1 0 genome.wustl.edu 37 12 57864125 57864125 + Frame_Shift_Del DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 57864125 57864125 C - DEL GLI1 ENST00000228682 human ensembl 74_37 +1 known frame_shift_del c.1602 p.P536fs 0.977 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 226 0 0 211 16 7.04846 USP15 0 genome.wustl.edu 37 12 62794954 62794954 + RNA DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 12 62794954 62794954 T - DEL USP15 ENST00000549101 human ensembl 74_37 +1 putative rna NULL NULL 0.041 - - - no_errors USP15 HGNC ENSG00000135655 21 0 0 22 5 18.5185 KDELC1 0 genome.wustl.edu 37 13 103443722 103443722 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 103443722 103443722 T - DEL KDELC1 ENST00000376004 human ensembl 74_37 -1 known frame_shift_del c.731 p.K244fs 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 367 0 0 370 24 6.09137 MICU2 0 genome.wustl.edu 37 13 22077129 22077129 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 22077129 22077129 A - DEL MICU2 ENST00000382374 human ensembl 74_37 -1 known frame_shift_del c.869 p.F290fs 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 67 0 0 66 11 14.2857 EXOSC8 0 genome.wustl.edu 37 13 37581201 37581201 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 37581201 37581201 A - DEL EXOSC8 ENST00000389704 human ensembl 74_37 +1 known frame_shift_del c.480 p.N162fs 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC8 HGNC ENSG00000120699 58 0 0 43 10 18.8679 MYCBP2 0 genome.wustl.edu 37 13 77632477 77632477 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 13 77632477 77632477 T - DEL MYCBP2 ENST00000407578 human ensembl 74_37 -1 known frame_shift_del c.13205 p.N4402fs 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 113 0 0 94 7 6.93069 ENSG00000259648 0 genome.wustl.edu 37 14 68082896 68082896 + RNA DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 68082896 68082896 T - DEL ENSG00000259648 ENST00000559968 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 64 0 0 35 4 10.2564 BCL11B 0 genome.wustl.edu 37 14 99641679 99641679 + Frame_Shift_Del DEL G G - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 14 99641679 99641679 G - DEL BCL11B ENST00000357195 human ensembl 74_37 -1 known frame_shift_del c.1494 p.E499fs 0.068 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 10 0 0 5 3 37.5 FANCI 0 genome.wustl.edu 37 15 89826401 89826401 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 15 89826401 89826401 T - DEL FANCI ENST00000310775 human ensembl 74_37 +1 known frame_shift_del c.1618 p.L541fs 1.000 NULL NULL - no_errors FANCI HGNC ENSG00000140525 168 0 0 119 20 14.3885 CNOT1 0 genome.wustl.edu 37 16 58589340 58589340 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 16 58589340 58589340 A - DEL CNOT1 ENST00000317147 human ensembl 74_37 -1 known frame_shift_del c.2706 p.Q904fs 0.995 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 169 0 0 144 20 12.1951 ULK2 0 genome.wustl.edu 37 17 19729453 19729453 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 19729453 19729453 T - DEL ULK2 ENST00000361658 human ensembl 74_37 -1 known frame_shift_del c.834 p.K278fs 1.000 superfamily_Kinase-like_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 115 0 0 93 8 7.92079 SGSM2 0 genome.wustl.edu 37 17 2279518 2279518 + Frame_Shift_Del DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 2279518 2279518 C - DEL SGSM2 ENST00000268989 human ensembl 74_37 +1 known frame_shift_del c.2572 p.N860fs 0.001 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 87 0 0 50 12 19.3548 BLMH 0 genome.wustl.edu 37 17 28616399 28616399 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 28616399 28616399 A - DEL BLMH ENST00000261714 human ensembl 74_37 -1 known frame_shift_del c.313 p.W105fs 1.000 pfam_Peptidase_C1B,pirsf_Peptidase_C1B pfam_Peptidase_C1B,pirsf_Peptidase_C1B - no_errors BLMH HGNC ENSG00000108578 41 0 0 33 8 19.5122 LSM12 0 genome.wustl.edu 37 17 42114877 42114877 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 42114877 42114877 T - DEL LSM12 ENST00000293406 human ensembl 74_37 -1 known frame_shift_del c.398 p.N133fs 1.000 pfam_Anticodon-binding_dom pfam_Anticodon-binding_dom - no_errors LSM12 HGNC ENSG00000161654 93 0 0 79 6 7.05882 LUC7L3 0 genome.wustl.edu 37 17 48827881 48827882 + Frame_Shift_Ins INS - - A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 48827881 48827882 - A INS LUC7L3 ENST00000240304 human ensembl 74_37 +1 known frame_shift_ins c.1158_1159 p.S388fs 1.000:1.000 NULL pfam_Luc7-rel - no_errors LUC7L3 HGNC ENSG00000108848 107 0 0 95 13 12.037 RNF43 0 genome.wustl.edu 37 17 56435160 56435161 + Frame_Shift_Ins INS - - C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 56435160 56435161 - C INS RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_ins c.1977_1976 p.P660fs 0.724:0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 206 0 0 147 18 10.9091 YBX2 0 genome.wustl.edu 37 17 7193637 7193637 + Frame_Shift_Del DEL G G - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 7193637 7193637 G - DEL YBX2 ENST00000007699 human ensembl 74_37 -1 known frame_shift_del c.677 p.P226fs 0.892 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX2 HGNC ENSG00000006047 318 1 0.31348 213 31 12.7049 EFNB3 0 genome.wustl.edu 37 17 7608923 7608923 + Frame_Shift_Del DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 17 7608923 7608923 C - DEL EFNB3 ENST00000226091 human ensembl 74_37 +1 known frame_shift_del c.7 p.H5fs 0.965 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 14 0 0 11 4 26.6667 ZNF521 0 genome.wustl.edu 37 18 22902077 22902077 + Frame_Shift_Del DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 18 22902077 22902077 C - DEL ZNF521 ENST00000361524 human ensembl 74_37 -1 known frame_shift_del c.115 p.E39fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 142 0 0 75 17 18.4783 SETBP1 0 genome.wustl.edu 37 18 42530560 42530560 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 18 42530560 42530560 A - DEL SETBP1 ENST00000282030 human ensembl 74_37 +1 known frame_shift_del c.1255 p.R421fs 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 96 0 0 32 11 25.5814 BCKDHA 0 genome.wustl.edu 37 19 41884396 41884397 + Frame_Shift_Ins INS - - G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 41884396 41884397 - G INS BCKDHA ENST00000595085 human ensembl 74_37 +1 known frame_shift_ins c.182_183 p.E63fs 0.482:0.384 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 80 0 0 59 8 11.9403 ZNF221 0 genome.wustl.edu 37 19 44471162 44471162 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 44471162 44471162 A - DEL ZNF221 ENST00000251269 human ensembl 74_37 +1 known frame_shift_del c.1508 p.K504fs 1.000 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 ZNF221 HGNC ENSG00000159905 133 0 0 83 18 17.8218 ZNF468 0 genome.wustl.edu 37 19 53344851 53344851 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 53344851 53344851 T - DEL ZNF468 ENST00000595646 human ensembl 74_37 -1 known frame_shift_del c.696 p.K232fs 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 ZNF468 HGNC ENSG00000204604 108 0 0 77 12 13.4831 LILRB5 0 genome.wustl.edu 37 19 54754664 54754664 + Frame_Shift_Del DEL G G - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 54754664 54754664 G - DEL LILRB5 ENST00000449561 human ensembl 74_37 -1 known frame_shift_del c.1762 p.L588fs 0.002 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 90 0 0 72 14 16.2791 OR7E24 0 genome.wustl.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 19 9361741 9361741 T - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.22 p.F11fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 14 0 0 7 5 41.6667 POTEI 0 genome.wustl.edu 37 2 131266488 131266488 + Frame_Shift_Del DEL G G - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 131266488 131266488 G - DEL POTEI ENST00000451531 human ensembl 74_37 -1 novel frame_shift_del c.321 p.C108fs 0.002 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEI HGNC ENSG00000196834 252 0 0 272 17 5.88235 KYNU 0 genome.wustl.edu 37 2 143798029 143798030 + Frame_Shift_Ins INS - - A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 143798029 143798030 - A INS KYNU ENST00000264170 human ensembl 74_37 +1 known frame_shift_ins c.1074_1075 p.S360fs 0.924:1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 72 0 0 86 8 8.51064 RBM45 0 genome.wustl.edu 37 2 178988920 178988920 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 178988920 178988920 A - DEL RBM45 ENST00000286070 human ensembl 74_37 +1 known frame_shift_del c.1135 p.A382fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC ENSG00000155636 114 1 0.869565 96 16 14.2857 TTN 0 genome.wustl.edu 37 2 179398169 179398170 + Frame_Shift_Ins INS - - G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 179398169 179398170 - G INS TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_ins c.95469_95468 p.P31824fs 0.010:0.013 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 101 0 0 58 8 12.1212 SGOL2 0 genome.wustl.edu 37 2 201436992 201436992 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 201436992 201436992 A - DEL SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_del c.1923 p.G644fs 0.002 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 139 0 0 148 19 11.3772 PUM2 0 genome.wustl.edu 37 2 20511377 20511377 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 20511377 20511377 T - DEL PUM2 ENST00000361078 human ensembl 74_37 -1 known frame_shift_del c.396 p.G133fs 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 69 0 0 57 9 13.6364 MAP2 0 genome.wustl.edu 37 2 210557835 210557836 + Frame_Shift_Ins INS - - A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 210557835 210557836 - A INS MAP2 ENST00000360351 human ensembl 74_37 +1 known frame_shift_ins c.941_942 p.S315fs 0.997:0.460 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 104 0 0 106 17 13.8211 COL4A3 0 genome.wustl.edu 37 2 228169767 228169767 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 228169767 228169767 A - DEL COL4A3 ENST00000396578 human ensembl 74_37 +1 known frame_shift_del c.4220 p.G1409fs 0.881 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 44 0 0 41 12 22.6415 TRIP12 0 genome.wustl.edu 37 2 230679822 230679823 + Frame_Shift_Del DEL AA AA - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 230679822 230679823 AA - DEL TRIP12 ENST00000283943 human ensembl 74_37 -1 known frame_shift_del c.1580_1579 p.L527fs 1.000:1.000 superfamily_ARM-type_fold pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 231 0 0 183 14 7.1066 MAPRE3 0 genome.wustl.edu 37 2 27248517 27248517 + Frame_Shift_Del DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 27248517 27248517 C - DEL MAPRE3 ENST00000233121 human ensembl 74_37 +1 known frame_shift_del c.536 p.C182fs 1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 97 0 0 70 12 14.6341 MTIF2 0 genome.wustl.edu 37 2 55470632 55470632 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 55470632 55470632 A - DEL MTIF2 ENST00000263629 human ensembl 74_37 -1 known frame_shift_del c.1484 p.L495fs 1.000 superfamily_TIF_IF2_dom3 pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 138 0 0 130 7 5.10949 KIAA1841 0 genome.wustl.edu 37 2 61310316 61310316 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 61310316 61310316 A - DEL KIAA1841 ENST00000356719 human ensembl 74_37 +1 known frame_shift_del c.757 p.N254fs 1.000 pfam_DUF3342,superfamily_BTB/POZ_fold pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC ENSG00000162929 60 0 0 80 9 10.1124 USP34 0 genome.wustl.edu 37 2 61571086 61571087 + Frame_Shift_Ins INS - - T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 61571086 61571087 - T INS USP34 ENST00000398571 human ensembl 74_37 -1 known frame_shift_ins c.2364_2363 p.N788fs 1.000:1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 106 0 0 68 11 13.9241 TPRKB 0 genome.wustl.edu 37 2 73957880 73957881 + RNA INS - - A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 73957880 73957881 - A INS TPRKB ENST00000485758 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.004 - - - no_errors TPRKB HGNC ENSG00000144034 53 0 0 32 4 11.1111 WBP1 0 genome.wustl.edu 37 2 74687542 74687543 + Frame_Shift_Ins INS - - C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 74687542 74687543 - C INS WBP1 ENST00000233615 human ensembl 74_37 +1 known frame_shift_ins c.544_545 p.H185fs 0.963:0.962 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 144 0 0 151 11 6.79012 TAF1B 0 genome.wustl.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 2 9989571 9989571 A - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187 p.N66fs 0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 12 0 0 24 4 14.2857 ENTPD6 0 genome.wustl.edu 37 20 25187894 25187894 + Frame_Shift_Del DEL G G - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 25187894 25187894 G - DEL ENTPD6 ENST00000376652 human ensembl 74_37 +1 known frame_shift_del c.237 p.A81fs 0.000 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD6 HGNC ENSG00000197586 98 0 0 90 8 8.16327 CDK5RAP1 0 genome.wustl.edu 37 20 31960473 31960476 + Frame_Shift_Del DEL AACT AACT - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 AACT AACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 31960473 31960476 AACT - DEL CDK5RAP1 ENST00000357886 human ensembl 74_37 -1 known frame_shift_del c.1278_1275 p.L425fs 0.999:0.995:0.188:0.197 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC ENSG00000101391 166 0 0 140 8 5.40541 CEP250 0 genome.wustl.edu 37 20 34078524 34078524 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 34078524 34078524 A - DEL CEP250 ENST00000397527 human ensembl 74_37 +1 known frame_shift_del c.2648 p.M885fs 0.967 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 64 0 0 76 8 9.52381 ADAM33 0 genome.wustl.edu 37 20 3653477 3653477 + Frame_Shift_Del DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 3653477 3653477 C - DEL ADAM33 ENST00000356518 human ensembl 74_37 -1 known frame_shift_del c.1202 p.G401fs 0.993 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM33 HGNC ENSG00000149451 33 0 0 44 7 13.7255 TOX2 0 genome.wustl.edu 37 20 42635228 42635228 + Frame_Shift_Del DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 42635228 42635228 C - DEL TOX2 ENST00000341197 human ensembl 74_37 +1 known frame_shift_del c.207 p.P71fs 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX2 HGNC ENSG00000124191 102 0 0 106 11 9.40171 SYCP2 0 genome.wustl.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 58467047 58467047 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.2362 p.M788fs 0.029 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 42 0 0 66 13 16.4557 COL9A3 0 genome.wustl.edu 37 20 61467795 61467795 + RNA DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 20 61467795 61467795 C - DEL COL9A3 ENST00000467819 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL9A3 HGNC ENSG00000092758 27 0 0 22 3 12 SON 0 genome.wustl.edu 37 21 34921914 34921914 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 21 34921914 34921914 A - DEL SON ENST00000356577 human ensembl 74_37 +1 known frame_shift_del c.377 p.K128fs 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 31 0 0 29 10 25.641 SMTN 0 genome.wustl.edu 37 22 31487798 31487799 + Frame_Shift_Ins INS - - C TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 22 31487798 31487799 - C INS SMTN ENST00000347557 human ensembl 74_37 +1 known frame_shift_ins c.1597_1598 p.S536fs 1.000:0.994 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 18 0 0 12 2 14.2857 SFI1 0 genome.wustl.edu 37 22 32007786 32007787 + Frame_Shift_Del DEL AG AG - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 22 32007786 32007787 AG - DEL SFI1 ENST00000400288 human ensembl 74_37 +1 known frame_shift_del c.2450_2451 p.R818fs 0.997:0.998 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 60 0 0 48 5 9.43396 MYH15 0 genome.wustl.edu 37 3 108229398 108229398 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 108229398 108229398 A - DEL MYH15 ENST00000273353 human ensembl 74_37 -1 known frame_shift_del c.40 p.W14fs 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 91 0 0 62 18 22.5 PVRL3 0 genome.wustl.edu 37 3 110830860 110830860 + RNA DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 110830860 110830860 T - DEL PVRL3 ENST00000478327 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors PVRL3 HGNC ENSG00000177707 19 0 0 14 11 44 UROC1 0 genome.wustl.edu 37 3 126220106 126220106 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 126220106 126220106 T - DEL UROC1 ENST00000290868 human ensembl 74_37 -1 known frame_shift_del c.920 p.K307fs 1.000 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 316 0 0 258 30 10.4167 FAM194A 0 genome.wustl.edu 37 3 150400040 150400040 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 150400040 150400040 A - DEL FAM194A ENST00000295910 human ensembl 74_37 -1 known frame_shift_del c.847 p.S283fs 0.858 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 109 0 0 144 12 7.69231 SERPINI1 0 genome.wustl.edu 37 3 167507159 167507159 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 167507159 167507159 A - DEL SERPINI1 ENST00000295777 human ensembl 74_37 +1 known frame_shift_del c.243 p.N83fs 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC ENSG00000163536 105 0 0 130 26 16.6667 MFN1 0 genome.wustl.edu 37 3 179069813 179069813 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 179069813 179069813 T - DEL MFN1 ENST00000263969 human ensembl 74_37 +1 known frame_shift_del c.238 p.F81fs 0.999 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 241 0 0 283 24 7.81759 FETUB 0 genome.wustl.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 186362544 186362544 A - DEL FETUB ENST00000265029 human ensembl 74_37 +1 known frame_shift_del c.429 p.K146fs 0.854 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 118 1 0.840336 130 23 15.0327 MB21D2 0 genome.wustl.edu 37 3 192516279 192516280 + Frame_Shift_Ins INS - - T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 192516279 192516280 - T INS MB21D2 ENST00000392452 human ensembl 74_37 -1 known frame_shift_ins c.1372_1371 p.L457fs 1.000:1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 211 0 0 186 31 14.2857 TOP2B 0 genome.wustl.edu 37 3 25686929 25686929 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 25686929 25686929 T - DEL TOP2B ENST00000264331 human ensembl 74_37 -1 known frame_shift_del c.102 p.E35fs 0.988 NULL pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 45 0 0 27 7 20.5882 PBRM1 0 genome.wustl.edu 37 3 52682399 52682400 + Frame_Shift_Ins INS - - T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 3 52682399 52682400 - T INS PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_ins c.774_773 p.N258fs 1.000:1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 132 0 0 112 13 10.4 LARP7 0 genome.wustl.edu 37 4 113578482 113578483 + Frame_Shift_Ins INS - - A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 113578482 113578483 - A INS LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_ins c.1748_1749 p.*584fs 0.998:1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 29 0 0 15 6 28.5714 OTUD4 0 genome.wustl.edu 37 4 146059009 146059010 + Frame_Shift_Del DEL TC TC - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 146059009 146059010 TC - DEL OTUD4 ENST00000447906 human ensembl 74_37 -1 known frame_shift_del c.2918_2917 p.E973fs 0.543:0.696 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 238 0 0 156 16 9.30233 PACRGL 0 genome.wustl.edu 37 4 20714416 20714417 + Frame_Shift_Del DEL GA GA - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 20714416 20714417 GA - DEL PACRGL ENST00000471979 human ensembl 74_37 +1 known frame_shift_del c.372_373 p.E126fs 1.000:1.000 pfam_Parkin_co-regulated_protein pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRGL HGNC ENSG00000163138 224 0 0 173 16 8.46561 DOK7 0 genome.wustl.edu 37 4 3494970 3494970 + Frame_Shift_Del DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 3494970 3494970 C - DEL DOK7 ENST00000389653 human ensembl 74_37 +1 known frame_shift_del c.1257 p.S422fs 0.007 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK7 HGNC ENSG00000175920 36 0 0 28 3 9.67742 ABLIM2 0 genome.wustl.edu 37 4 8089995 8089996 + Frame_Shift_Ins INS - - G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 4 8089995 8089996 - G INS ABLIM2 ENST00000447017 human ensembl 74_37 -1 known frame_shift_ins c.355_354 p.G118fs 1.000:0.001 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 35 0 0 15 4 21.0526 UBE2B 0 genome.wustl.edu 37 5 133707248 133707248 + RNA DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 133707248 133707248 T - DEL UBE2B ENST00000511807 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UBE2B HGNC ENSG00000119048 25 0 0 25 5 16.6667 RBM27 0 genome.wustl.edu 37 5 145647320 145647320 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 145647320 145647320 A - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2440 p.K816fs 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 78 0 0 86 12 12.2449 CSF1R 0 genome.wustl.edu 37 5 149457796 149457796 + Frame_Shift_Del DEL G G - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 149457796 149457796 G - DEL CSF1R ENST00000286301 human ensembl 74_37 -1 known frame_shift_del c.608 p.P203fs 0.041 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 62 0 0 32 12 27.2727 RAI14 0 genome.wustl.edu 37 5 34823297 34823298 + Frame_Shift_Del DEL AG AG - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 34823297 34823298 AG - DEL RAI14 ENST00000515799 human ensembl 74_37 +1 known frame_shift_del c.1359_1360 p.R455fs 0.142:0.908 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 102 0 0 84 11 11.5789 MROH2B 0 genome.wustl.edu 37 5 41004528 41004528 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 5 41004528 41004528 T - DEL MROH2B ENST00000399564 human ensembl 74_37 -1 known frame_shift_del c.4114 p.I1372fs 0.954 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 105 1 0.943396 82 8 8.88889 HIVEP1 0 genome.wustl.edu 37 6 12121228 12121228 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 12121228 12121228 A - DEL HIVEP1 ENST00000379388 human ensembl 74_37 +1 known frame_shift_del c.1200 p.K402fs 0.835 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 167 0 0 180 16 8.16327 SGK1 0 genome.wustl.edu 37 6 134583019 134583019 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 134583019 134583019 A - DEL SGK1 ENST00000524929 human ensembl 74_37 -1 putative frame_shift_del c.337 p.C113fs 0.027 NULL NULL - no_errors SGK1 HGNC ENSG00000118515 36 0 0 28 7 20 OR2J2 0 genome.wustl.edu 37 6 29141422 29141422 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 29141422 29141422 A - DEL OR2J2 ENST00000377167 human ensembl 74_37 +1 known frame_shift_del c.10 p.N6fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J2 HGNC ENSG00000204700 120 0 0 111 18 13.9535 NELFE 0 genome.wustl.edu 37 6 31926206 31926206 + Frame_Shift_Del DEL G G - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 31926206 31926206 G - DEL NELFE ENST00000375429 human ensembl 74_37 -1 known frame_shift_del c.18 p.G7fs 0.996 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NELFE HGNC ENSG00000204356 132 0 0 144 8 5.26316 UHRF1BP1 0 genome.wustl.edu 37 6 34826124 34826124 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 34826124 34826124 T - DEL UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known frame_shift_del c.1991 p.L666fs 0.974 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 153 0 0 171 12 6.55738 TEAD3 0 genome.wustl.edu 37 6 35443724 35443724 + Frame_Shift_Del DEL G G - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 35443724 35443724 G - DEL TEAD3 ENST00000402886 human ensembl 74_37 -1 novel frame_shift_del c.692 p.P231fs 0.908 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,pirsf_TEF - no_errors TEAD3 HGNC ENSG00000007866 72 0 0 61 7 10.2941 PEX6 0 genome.wustl.edu 37 6 42937706 42937707 + Frame_Shift_Ins INS - - A TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 42937706 42937707 - A INS PEX6 ENST00000304611 human ensembl 74_37 -1 known frame_shift_ins c.1150_1149 p.K383fs 1.000:1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 81 0 0 74 10 11.9048 COL9A1 0 genome.wustl.edu 37 6 70942385 70942386 + Frame_Shift_Ins INS - - G TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 6 70942385 70942386 - G INS COL9A1 ENST00000357250 human ensembl 74_37 -1 known frame_shift_ins c.2404_2403 p.G801fs 1.000:0.008 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 83 0 0 69 12 14.8148 CHPF2 0 genome.wustl.edu 37 7 150935383 150935383 + Frame_Shift_Del DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 150935383 150935383 C - DEL CHPF2 ENST00000035307 human ensembl 74_37 +1 known frame_shift_del c.1935 p.S648fs 0.983 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 53 0 0 46 9 16.3636 MPP6 0 genome.wustl.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 24705666 24705666 A - DEL MPP6 ENST00000222644 human ensembl 74_37 +1 known frame_shift_del c.910 p.K306fs 1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP6 HGNC ENSG00000105926 204 1 0.487805 216 19 8.08511 ANLN 0 genome.wustl.edu 37 7 36455394 36455394 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 36455394 36455394 A - DEL ANLN ENST00000265748 human ensembl 74_37 +1 known frame_shift_del c.1423 p.K476fs 0.936 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 203 0 0 234 20 7.87402 ZPBP 0 genome.wustl.edu 37 7 50057839 50057839 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 50057839 50057839 A - DEL ZPBP ENST00000046087 human ensembl 74_37 -1 known frame_shift_del c.780 p.F260fs 0.715 pfam_Sp38-bd pfam_Sp38-bd,pfscan_Ig-like_dom - no_errors ZPBP HGNC ENSG00000042813 109 0 0 115 10 8 C7orf26 0 genome.wustl.edu 37 7 6647676 6647676 + Frame_Shift_Del DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 6647676 6647676 C - DEL C7orf26 ENST00000344417 human ensembl 74_37 +1 known frame_shift_del c.1234 p.P413fs 0.995 NULL NULL - no_errors C7orf26 HGNC ENSG00000146576 41 0 0 59 9 13.2353 DTX2P1-UPK3BP1-PMS2P11 0 genome.wustl.edu 37 7 76610356 76610356 + RNA DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 76610356 76610356 C - DEL DTX2P1-UPK3BP1-PMS2P11 ENST00000584900 human ensembl 74_37 +1 known rna NULL NULL 0.847 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 145 1 0.684932 89 19 17.5926 ABCB4 0 genome.wustl.edu 37 7 87073068 87073068 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 7 87073068 87073068 A - DEL ABCB4 ENST00000265723 human ensembl 74_37 -1 known frame_shift_del c.1141 p.S381fs 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 91 0 0 70 7 9.09091 FER1L6 0 genome.wustl.edu 37 8 125061917 125061917 + Frame_Shift_Del DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 125061917 125061917 C - DEL FER1L6 ENST00000399018 human ensembl 74_37 +1 known frame_shift_del c.2794 p.R934fs 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 92 0 0 78 20 20.4082 CHD7 0 genome.wustl.edu 37 8 61735157 61735158 + Frame_Shift_Ins INS - - T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 8 61735157 61735158 - T INS CHD7 ENST00000423902 human ensembl 74_37 +1 known frame_shift_ins c.3053_3054 p.L1020fs 1.000:0.998 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 210 0 0 215 26 10.7884 ZNF462 0 genome.wustl.edu 37 9 109694678 109694678 + Frame_Shift_Del DEL G G - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 109694678 109694678 G - DEL ZNF462 ENST00000457913 human ensembl 74_37 +1 known frame_shift_del c.6144 p.G2050fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 30 0 0 15 6 28.5714 C9orf84 0 genome.wustl.edu 37 9 114454059 114454060 + Frame_Shift_Ins INS - - T TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 114454059 114454060 - T INS C9orf84 ENST00000318737 human ensembl 74_37 -1 known frame_shift_ins c.4006_4005 p.C1335fs 0.000:0.000 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 106 0 0 111 17 13.2812 PNPLA7 0 genome.wustl.edu 37 9 140400093 140400095 + In_Frame_Del DEL CTT CTT - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d 9 140400093 140400095 CTT - DEL PNPLA7 ENST00000406427 human ensembl 74_37 -1 known in_frame_del c.1446_1444 p.K482in_frame_del 1.000:1.000:1.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 93 0 0 70 9 11.3924 TBC1D8B 0 genome.wustl.edu 37 X 106070600 106070600 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 106070600 106070600 A - DEL TBC1D8B ENST00000481617 human ensembl 74_37 +1 putative frame_shift_del c.1236 p.G415fs 0.001 NULL pfam_GRAM,smart_GRAM - no_errors TBC1D8B HGNC ENSG00000133138 53 0 0 25 4 13.7931 DOCK11 0 genome.wustl.edu 37 X 117744238 117744238 + Frame_Shift_Del DEL C C - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 117744238 117744238 C - DEL DOCK11 ENST00000276202 human ensembl 74_37 +1 known frame_shift_del c.2953 p.R986fs 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 143 0 0 98 12 10.9091 TAF1 0 genome.wustl.edu 37 X 70603000 70603000 + Frame_Shift_Del DEL A A - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 70603000 70603000 A - DEL TAF1 ENST00000449580 human ensembl 74_37 +1 known frame_shift_del c.1930 p.K646fs 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 64 0 0 66 8 10.8108 ATRX 0 genome.wustl.edu 37 X 76920173 76920173 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 76920173 76920173 T - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_del c.3904 p.R1302fs 0.666 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 152 0 0 124 16 11.4286 P2RY10 0 genome.wustl.edu 37 X 78216881 78216881 + Frame_Shift_Del DEL T T - TCGA-HU-A4H4-01A-21D-A25D-08 TCGA-HU-A4H4-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 547ef3c8-0c69-47cb-831e-6345a197bc7e be800cd2-7e29-43cd-942a-d62c1297a71d X 78216881 78216881 T - DEL P2RY10 ENST00000171757 human ensembl 74_37 +1 known frame_shift_del c.864 p.C290fs 0.542 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 432 1 0.230947 326 33 9.1922