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 ZNF697 0 genome.wustl.edu 37 1 120165891 120165891 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 120165891 120165891 C T SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known missense c.1075 p.G359S 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 16 0 0 2 7 77.7778 IFI16 0 genome.wustl.edu 37 1 159019266 159019266 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 159019266 159019266 G A SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.1542 p.M514I 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 60 0 0 17 9 34.6154 FASLG 0 genome.wustl.edu 37 1 172634912 172634912 + Missense_Mutation SNP C C A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 172634912 172634912 C A SNP FASLG ENST00000367721 human ensembl 74_37 +1 known missense c.602 p.S201Y 0.082 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_FASL,prints_TNF,prints_TNF_C - no_errors FASLG HGNC ENSG00000117560 148 0 0 68 76 52.7778 ZNF648 0 genome.wustl.edu 37 1 182026380 182026380 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 182026380 182026380 C T SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.766 p.G256R 0.321 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 16 0 0 14 8 36.3636 BRINP3 0 genome.wustl.edu 37 1 190067555 190067555 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 190067555 190067555 G A SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1894 p.R632C 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 354 1 0.28169 247 65 20.8333 CFHR5 0 genome.wustl.edu 37 1 196963269 196963269 + Missense_Mutation SNP A A G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 196963269 196963269 A G SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known missense c.562 p.S188G 0.005 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 209 0 0 132 22 14.2857 ASPM 0 genome.wustl.edu 37 1 197063269 197063269 + Missense_Mutation SNP T T A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 197063269 197063269 T A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.9029 p.K3010I 0.573 superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 24 0 0 9 11 55 GPR25 0 genome.wustl.edu 37 1 200842961 200842961 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 200842961 200842961 G A SNP GPR25 ENST00000304244 human ensembl 74_37 +1 known missense c.796 p.V266I 0.067 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR25 HGNC ENSG00000170128 53 0 0 70 9 11.3924 USH2A 0 genome.wustl.edu 37 1 216420148 216420148 + Missense_Mutation SNP T T C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 216420148 216420148 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.2588 p.K863R 0.998 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 295 0 0 192 42 17.9487 OBSCN 0 genome.wustl.edu 37 1 228509724 228509724 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 228509724 228509724 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.15182 p.R5061H 0.280 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 17 0 0 23 7 23.3333 SPRTN 0 genome.wustl.edu 37 1 231487108 231487108 + Missense_Mutation SNP A A G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 231487108 231487108 A G SNP SPRTN ENST00000295050 human ensembl 74_37 +1 known missense c.509 p.N170S 0.222 pfam_SprT-like_domain,smart_SprT-like_domain pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 124 0 0 49 53 51.9608 KMO 0 genome.wustl.edu 37 1 241728342 241728342 + Missense_Mutation SNP T T A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 241728342 241728342 T A SNP KMO ENST00000366559 human ensembl 74_37 +1 known missense c.671 p.I224N 1.000 pfam_mOase_FAD-bd pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 92 0 0 18 26 59.0909 OR2L3 0 genome.wustl.edu 37 1 248224871 248224871 + Silent SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 248224871 248224871 G T SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known silent c.888 p.V296 0.252 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 113 0 0 82 35 29.9145 AHDC1 0 genome.wustl.edu 37 1 27877815 27877815 + Missense_Mutation SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 27877815 27877815 G T SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.812 p.P271Q 0.997 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 65 0 0 31 2 6.06061 DNALI1 0 genome.wustl.edu 37 1 38032354 38032354 + RNA SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 38032354 38032354 C T SNP DNALI1 ENST00000497858 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors DNALI1 HGNC ENSG00000163879 57 0 0 4 17 80.9524 MAGOH 0 genome.wustl.edu 37 1 53692785 53692785 + Missense_Mutation SNP G G C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 1 53692785 53692785 G C SNP MAGOH ENST00000371470 human ensembl 74_37 -1 known missense c.373 p.L125V 1.000 pfam_Mago_nashi,superfamily_Mago_nashi pfam_Mago_nashi,superfamily_Mago_nashi - no_errors MAGOH HGNC ENSG00000162385 33 0 0 13 12 48 LBX1 0 genome.wustl.edu 37 10 102988411 102988411 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 10 102988411 102988411 G A SNP LBX1 ENST00000370193 human ensembl 74_37 -1 known silent c.162 p.C54 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 23 0 0 15 13 46.4286 ENKUR 0 genome.wustl.edu 37 10 25284711 25284711 + Missense_Mutation SNP T T A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 10 25284711 25284711 T A SNP ENKUR ENST00000331161 human ensembl 74_37 -1 known missense c.311 p.N104I 1.000 NULL NULL - no_errors ENKUR HGNC ENSG00000151023 139 0 0 55 4 6.77966 SEC24C 0 genome.wustl.edu 37 10 75528896 75528896 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 10 75528896 75528896 G A SNP SEC24C ENST00000339365 human ensembl 74_37 +1 known missense c.2410 p.G804R 1.000 pfam_Sec23_24_beta_S pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 54 0 0 34 2 5.55556 NUTM2E 0 genome.wustl.edu 37 10 81601834 81601834 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 10 81601834 81601834 C T SNP NUTM2E ENST00000429984 human ensembl 74_37 +1 known missense c.338 p.T113M 0.005 NULL NULL - no_errors NUTM2E HGNC ENSG00000228570 92 0 0 35 40 53.3333 LIPN 0 genome.wustl.edu 37 10 90522041 90522041 + Nonsense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 10 90522041 90522041 C T SNP LIPN ENST00000404459 human ensembl 74_37 +1 known nonsense c.205 p.R69* 0.006 pfam_AB_hydrolase_lipase pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPN HGNC ENSG00000204020 26 0 0 7 4 36.3636 KIAA1377 0 genome.wustl.edu 37 11 101833060 101833060 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 11 101833060 101833060 G A SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known missense c.1294 p.A432T 0.005 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 102 0 0 45 15 25 MUC2 0 genome.wustl.edu 37 11 1093512 1093512 + Silent SNP C C A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 11 1093512 1093512 C A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.5331 p.T1777 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 11 0 0 10 4 28.5714 APOA4 0 genome.wustl.edu 37 11 116691672 116691672 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 11 116691672 116691672 G A SNP APOA4 ENST00000357780 human ensembl 74_37 -1 known missense c.1102 p.L368F 0.000 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 57 0 0 17 19 52.7778 VPS11 0 genome.wustl.edu 37 11 118947716 118947716 + Missense_Mutation SNP A A G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 11 118947716 118947716 A G SNP VPS11 ENST00000300793 human ensembl 74_37 +1 known missense c.1345 p.N449D 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,pirsf_VPS11 pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING - no_errors VPS11 HGNC ENSG00000160695 55 0 0 28 6 17.6471 ARHGEF12 0 genome.wustl.edu 37 11 120302617 120302617 + Silent SNP A A T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 11 120302617 120302617 A T SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known silent c.864 p.A288 0.899 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 92 0 0 37 21 36.2069 LDHA 0 genome.wustl.edu 37 11 18428747 18428747 + Silent SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 11 18428747 18428747 G T SNP LDHA ENST00000540430 human ensembl 74_37 +1 known silent c.1005 p.V335 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHA HGNC ENSG00000134333 97 0 0 38 23 37.7049 AGBL2 0 genome.wustl.edu 37 11 47711960 47711960 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 11 47711960 47711960 G A SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known silent c.1299 p.T433 0.126 pfam_Peptidase_M14 pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 172 0 0 57 47 45.1923 OR5J2 0 genome.wustl.edu 37 11 55944637 55944637 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 11 55944637 55944637 C T SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known missense c.544 p.P182S 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 131 0 0 49 42 46.1538 OR5M10 0 genome.wustl.edu 37 11 56345162 56345162 + Missense_Mutation SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 11 56345162 56345162 G T SNP OR5M10 ENST00000526812 human ensembl 74_37 -1 known missense c.36 p.F12L 0.398 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M10 HGNC ENSG00000254834 108 0 0 66 23 25.8427 MIR194-2 0 genome.wustl.edu 37 11 64658939 64658939 + RNA SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 11 64658939 64658939 C T SNP MIR194-2 ENST00000413053 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR194-2 HGNC ENSG00000229719 20 0 0 8 5 38.4615 RASAL1 0 genome.wustl.edu 37 12 113543594 113543594 + Silent SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 12 113543594 113543594 C T SNP RASAL1 ENST00000546530 human ensembl 74_37 -1 known silent c.1758 p.T586 0.051 pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 165 1 0.60241 27 69 71.875 PRB4 0 genome.wustl.edu 37 12 11461525 11461525 + Missense_Mutation SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 12 11461525 11461525 G T SNP PRB4 ENST00000279575 human ensembl 74_37 -1 known missense c.392 p.S131Y 0.000 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 633 0 0 1015 96 8.64086 ALG10B 0 genome.wustl.edu 37 12 38714307 38714307 + Missense_Mutation SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 12 38714307 38714307 G T SNP ALG10B ENST00000308742 human ensembl 74_37 +1 known missense c.714 p.L238F 0.003 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10B HGNC ENSG00000175548 283 0 0 308 72 18.9474 KCNA1 0 genome.wustl.edu 37 12 5020969 5020969 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 12 5020969 5020969 G A SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.425 p.R142H 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_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 128 0 0 215 56 20.6642 MBD6 0 genome.wustl.edu 37 12 57919589 57919589 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 12 57919589 57919589 G A SNP MBD6 ENST00000355673 human ensembl 74_37 +1 known missense c.838 p.A280T 0.973 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 207 1 0.480769 129 48 27.1186 DPY19L2 0 genome.wustl.edu 37 12 64020294 64020294 + Silent SNP C C G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 12 64020294 64020294 C G SNP DPY19L2 ENST00000324472 human ensembl 74_37 -1 known silent c.816 p.L272 0.995 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 29 0 0 17 7 29.1667 CPM 0 genome.wustl.edu 37 12 69265719 69265719 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 12 69265719 69265719 C T SNP CPM ENST00000547134 human ensembl 74_37 -1 known missense c.178 p.A60T 0.984 NULL NULL - no_errors CPM HGNC ENSG00000135678 104 0 0 95 41 30.1471 MYO16 0 genome.wustl.edu 37 13 109793302 109793302 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 13 109793302 109793302 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.4676 p.A1559V 0.001 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 15 0 0 10 5 33.3333 MAB21L1 0 genome.wustl.edu 37 13 36049332 36049332 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 13 36049332 36049332 C T SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known missense c.944 p.R315Q 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 185 0 0 177 123 41 DCLK1 0 genome.wustl.edu 37 13 36410222 36410222 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 13 36410222 36410222 C T SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.1177 p.G393R 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_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 241 0 0 195 98 33.4471 PIBF1 0 genome.wustl.edu 37 13 73505334 73505334 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 13 73505334 73505334 G A SNP PIBF1 ENST00000326291 human ensembl 74_37 +1 known missense c.1762 p.E588K 1.000 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 73 0 0 65 7 9.72222 RAP2A 0 genome.wustl.edu 37 13 98116679 98116679 + Missense_Mutation SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 13 98116679 98116679 G T SNP RAP2A ENST00000245304 human ensembl 74_37 +1 known missense c.535 p.A179S 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,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 RAP2A HGNC ENSG00000125249 207 1 0.480769 172 29 14.4279 ECRP 0 genome.wustl.edu 37 14 21388361 21388361 + RNA SNP C C A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 14 21388361 21388361 C A SNP ECRP ENST00000555624 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-84C10.2 Clone_based_vega_gene ENSG00000136315 122 0 0 73 34 31.7757 RAB2B 0 genome.wustl.edu 37 14 21936528 21936528 + Missense_Mutation SNP A A G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 14 21936528 21936528 A G SNP RAB2B ENST00000397762 human ensembl 74_37 -1 known missense c.350 p.I117T 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 RAB2B HGNC ENSG00000129472 62 0 0 35 21 37.5 TGM1 0 genome.wustl.edu 37 14 24731015 24731015 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 14 24731015 24731015 C T SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known missense c.394 p.D132N 0.954 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 154 0 0 152 28 15.5556 NOVA1 0 genome.wustl.edu 37 14 26917189 26917189 + Silent SNP A A G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 14 26917189 26917189 A G SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known silent c.1500 p.A500 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 95 0 0 43 35 44.8718 AKAP6 0 genome.wustl.edu 37 14 33205031 33205031 + Nonsense_Mutation SNP T T A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 14 33205031 33205031 T A SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known nonsense c.3315 p.C1105* 1.000 smart_Spectrin/alpha-actinin smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 119 1 0.833333 45 52 53.6082 PTGDR 0 genome.wustl.edu 37 14 52734759 52734759 + Missense_Mutation SNP A A G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 14 52734759 52734759 A G SNP PTGDR ENST00000306051 human ensembl 74_37 +1 known missense c.227 p.K76R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 105 0 0 75 70 48.2759 SMOC1 0 genome.wustl.edu 37 14 70478205 70478205 + Silent SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 14 70478205 70478205 C T SNP SMOC1 ENST00000361956 human ensembl 74_37 +1 known silent c.861 p.Y287 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SMOC1 HGNC ENSG00000198732 135 0 0 55 20 26.6667 SYNDIG1L 0 genome.wustl.edu 37 14 74876111 74876111 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 14 74876111 74876111 C T SNP SYNDIG1L ENST00000331628 human ensembl 74_37 -1 known missense c.337 p.E113K 0.998 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1L HGNC ENSG00000183379 257 0 0 86 41 32.2835 TTC8 0 genome.wustl.edu 37 14 89300058 89300058 + Missense_Mutation SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 14 89300058 89300058 G T SNP TTC8 ENST00000380656 human ensembl 74_37 +1 known missense c.136 p.V46L 0.151 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC ENSG00000165533 94 0 0 28 14 33.3333 RYR3 0 genome.wustl.edu 37 15 33993251 33993251 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 15 33993251 33993251 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.6453 p.A2151 0.007 pfam_Ca-rel_channel pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 50 0 0 20 6 23.0769 FBN1 0 genome.wustl.edu 37 15 48807662 48807662 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 15 48807662 48807662 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.1390 p.R464C 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 155 0 0 35 20 36.3636 MYO9A 0 genome.wustl.edu 37 15 72189824 72189824 + Missense_Mutation SNP T T G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 15 72189824 72189824 T G SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.5020 p.K1674Q 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 118 0 0 31 14 31.1111 PML 0 genome.wustl.edu 37 15 74315710 74315710 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 15 74315710 74315710 C T SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.1144 p.R382C 0.358 pfam_DUF3583 pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 50 0 0 28 2 6.66667 ARNT2 0 genome.wustl.edu 37 15 80855457 80855457 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 15 80855457 80855457 C T SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.1193 p.S398L 1.000 pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAC,tigrfam_PAS 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,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 515 0 0 126 85 40.2844 GOLGA6L4 0 genome.wustl.edu 37 15 84911245 84911245 + Silent SNP A A G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 15 84911245 84911245 A G SNP GOLGA6L4 ENST00000422563 human ensembl 74_37 +1 known silent c.654 p.E218 0.988 NULL NULL - no_errors GOLGA6L4 HGNC ENSG00000184206 25 0 0 9 4 30.7692 ABCC6 0 genome.wustl.edu 37 16 16295962 16295962 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 16 16295962 16295962 G A SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known missense c.1072 p.L358F 0.997 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 117 0 0 64 36 36 PALB2 0 genome.wustl.edu 37 16 23647258 23647258 + Silent SNP T T C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 16 23647258 23647258 T C SNP PALB2 ENST00000261584 human ensembl 74_37 -1 known silent c.609 p.K203 0.000 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 306 0 0 119 41 25.625 ZFHX3 0 genome.wustl.edu 37 16 72992903 72992903 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 16 72992903 72992903 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.1142 p.A381V 1.000 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 214 1 0.465116 117 28 19.3103 PRR25 0 genome.wustl.edu 37 16 855813 855813 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 16 855813 855813 G A SNP PRR25 ENST00000301698 human ensembl 74_37 +1 known missense c.371 p.R124Q 0.020 NULL NULL - no_errors PRR25 HGNC ENSG00000167945 26 0 0 22 7 24.1379 ENSG00000266981 0 genome.wustl.edu 37 17 33518071 33518071 + RNA SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 17 33518071 33518071 C T SNP ENSG00000266981 ENST00000590144 human ensembl 74_37 +1 putative rna NULL NULL 0.095 - - - no_errors RP11-799D4.2 Clone_based_vega_gene ENSG00000266981 99 0 0 37 34 47.8873 MED24 0 genome.wustl.edu 37 17 38186032 38186032 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 17 38186032 38186032 C T SNP MED24 ENST00000394128 human ensembl 74_37 -1 known missense c.1235 p.R412Q 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 122 0 0 60 15 20 TANC2 0 genome.wustl.edu 37 17 61498102 61498102 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 17 61498102 61498102 C T SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.4759 p.R1587W 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 120 0 0 51 21 29.1667 KDM6B 0 genome.wustl.edu 37 17 7754452 7754452 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 17 7754452 7754452 C T SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.3787 p.R1263W 0.024 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 131 0 0 48 17 26.1538 MIR1238 0 genome.wustl.edu 37 19 10662814 10662814 + RNA SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 10662814 10662814 G A SNP MIR1238 ENST00000408483 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR1238 HGNC ENSG00000221410 139 0 0 94 27 22.314 DOCK6 0 genome.wustl.edu 37 19 11325064 11325064 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 11325064 11325064 G A SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.4225 p.R1409W 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 129 0 0 72 41 36.2832 RAD23A 0 genome.wustl.edu 37 19 13059068 13059068 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 13059068 13059068 G A SNP RAD23A ENST00000586534 human ensembl 74_37 +1 known silent c.312 p.P104 0.007 tigrfam_Rad23 pfam_XPC-bd,pfam_UBA/Ts_N,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 - no_errors RAD23A HGNC ENSG00000179262 107 0 0 47 16 25.3968 DNAJB1 0 genome.wustl.edu 37 19 14626879 14626879 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 14626879 14626879 C T SNP DNAJB1 ENST00000254322 human ensembl 74_37 -1 known missense c.896 p.G299E 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB1 HGNC ENSG00000132002 161 0 0 75 57 43.1818 CPAMD8 0 genome.wustl.edu 37 19 17085975 17085975 + Nonsense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 17085975 17085975 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known nonsense c.2143 p.R715* 0.280 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 25 0 0 14 7 33.3333 ZNF100 0 genome.wustl.edu 37 19 21927839 21927839 + Missense_Mutation SNP C C G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 21927839 21927839 C G SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known missense c.127 p.E43Q 0.942 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 ZNF100 HGNC ENSG00000197020 206 0 0 78 56 41.791 MIER2 0 genome.wustl.edu 37 19 334463 334463 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 334463 334463 G A SNP MIER2 ENST00000264819 human ensembl 74_37 -1 known silent c.180 p.C60 0.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 157 0 0 74 45 37.8151 RYR1 0 genome.wustl.edu 37 19 39005693 39005693 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 39005693 39005693 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.9500 p.R3167Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 52 0 0 40 16 28.5714 CEACAM5 0 genome.wustl.edu 37 19 42224897 42224897 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 42224897 42224897 G A SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known silent c.1827 p.A609 0.024 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 258 0 0 109 84 43.5233 SEMA6B 0 genome.wustl.edu 37 19 4543641 4543641 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 4543641 4543641 G A SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known missense c.2639 p.A880V 0.037 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 10 0 0 7 4 36.3636 FOSB 0 genome.wustl.edu 37 19 45974176 45974176 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 45974176 45974176 G A SNP FOSB ENST00000353609 human ensembl 74_37 +1 known missense c.416 p.R139Q 0.996 superfamily_TF_DNA-bd pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC ENSG00000125740 107 0 0 63 47 42.7273 DHX34 0 genome.wustl.edu 37 19 47884092 47884092 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 47884092 47884092 G A SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.3002 p.R1001Q 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 101 0 0 56 31 35.6322 ACSBG2 0 genome.wustl.edu 37 19 6187752 6187752 + Missense_Mutation SNP A A C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 6187752 6187752 A C SNP ACSBG2 ENST00000252669 human ensembl 74_37 +1 known missense c.1823 p.Q608P 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ENSG00000130377 168 0 0 78 54 40.9091 DENND1C 0 genome.wustl.edu 37 19 6471429 6471429 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 6471429 6471429 C T SNP DENND1C ENST00000381480 human ensembl 74_37 -1 known missense c.1237 p.G413R 0.097 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 30 0 0 10 4 28.5714 RNF126 0 genome.wustl.edu 37 19 648886 648886 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 648886 648886 G A SNP RNF126 ENST00000292363 human ensembl 74_37 -1 known silent c.666 p.H222 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF126 HGNC ENSG00000070423 15 0 0 9 10 52.6316 CNTNAP5 0 genome.wustl.edu 37 2 125204395 125204395 + Missense_Mutation SNP C C A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 125204395 125204395 C A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.799 p.Q267K 1.000 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 CNTNAP5 HGNC ENSG00000155052 95 0 0 74 15 16.8539 NXPH2 0 genome.wustl.edu 37 2 139429072 139429072 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 139429072 139429072 G A SNP NXPH2 ENST00000272641 human ensembl 74_37 -1 known missense c.215 p.A72V 0.972 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH2 HGNC ENSG00000144227 257 0 0 121 49 28.8235 CYTIP 0 genome.wustl.edu 37 2 158272339 158272339 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 158272339 158272339 G A SNP CYTIP ENST00000264192 human ensembl 74_37 -1 known silent c.930 p.S310 0.992 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors CYTIP HGNC ENSG00000115165 151 0 0 68 50 42.3729 DYNC1I2 0 genome.wustl.edu 37 2 172585298 172585298 + Silent SNP T T C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 172585298 172585298 T C SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.1329 p.D443 0.997 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 36 0 0 18 2 10 CIR1 0 genome.wustl.edu 37 2 175216446 175216446 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 175216446 175216446 C T SNP CIR1 ENST00000362053 human ensembl 74_37 -1 known missense c.520 p.D174N 1.000 NULL pfam_CIR_N_dom,superfamily_Znf_CCHC - no_errors CIR1 HGNC ENSG00000138433 91 0 0 44 25 36.2319 TTN 0 genome.wustl.edu 37 2 179457001 179457001 + Missense_Mutation SNP T T G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 179457001 179457001 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.51926 p.K17309T 1.000 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-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 10 21 67.7419 TTN 0 genome.wustl.edu 37 2 179479416 179479416 + Missense_Mutation SNP C C G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 179479416 179479416 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.41121 p.K13707N 1.000 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 52 0 0 29 9 23.6842 PPP1R1C 0 genome.wustl.edu 37 2 182826890 182826890 + RNA SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 182826890 182826890 G A SNP PPP1R1C ENST00000486067 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors PPP1R1C HGNC ENSG00000150722 83 0 0 31 27 46.5517 PPP1R1C 0 genome.wustl.edu 37 2 182850873 182850873 + Silent SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 182850873 182850873 C T SNP PPP1R1C ENST00000409137 human ensembl 74_37 +1 known silent c.36 p.A12 0.999 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1C HGNC ENSG00000150722 196 0 0 108 23 17.5573 FSIP2 0 genome.wustl.edu 37 2 186670994 186670994 + Missense_Mutation SNP A A T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 186670994 186670994 A T SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.17228 p.N5743I 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 63 0 0 21 38 64.4068 FSIP2 0 genome.wustl.edu 37 2 186689164 186689164 + Missense_Mutation SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 186689164 186689164 G T SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.20697 p.E6899D 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 112 0 0 47 11 18.9655 EPHA4 0 genome.wustl.edu 37 2 222429003 222429003 + Nonsense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 222429003 222429003 G A SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known nonsense c.271 p.R91* 0.993 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom 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,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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 209 0 0 106 34 24.2857 PAX3 0 genome.wustl.edu 37 2 223158908 223158908 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 223158908 223158908 G A SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known silent c.564 p.I188 1.000 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 202 0 0 117 34 22.5166 FAM98A 0 genome.wustl.edu 37 2 33817166 33817166 + Silent SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 33817166 33817166 C T SNP FAM98A ENST00000238823 human ensembl 74_37 -1 known silent c.318 p.K106 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 218 0 0 141 34 19.4286 FAM110C 0 genome.wustl.edu 37 2 46085 46085 + Missense_Mutation SNP T T A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 46085 46085 T A SNP FAM110C ENST00000327669 human ensembl 74_37 -1 known missense c.301 p.I101F 1.000 NULL NULL - no_errors FAM110C HGNC ENSG00000184731 54 0 0 49 7 12.5 USP34 0 genome.wustl.edu 37 2 61607324 61607324 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 2 61607324 61607324 C T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.994 p.A332T 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 59 0 0 30 12 28.5714 ASXL1 0 genome.wustl.edu 37 20 31024757 31024757 + Silent SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 20 31024757 31024757 C T SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known silent c.4242 p.P1414 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 216 0 0 183 49 21.1207 EYA2 0 genome.wustl.edu 37 20 45771717 45771717 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 20 45771717 45771717 G A SNP EYA2 ENST00000327619 human ensembl 74_37 +1 known missense c.908 p.R303H 1.000 pfam_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC ENSG00000064655 93 0 0 83 33 28.4483 ZFP64 0 genome.wustl.edu 37 20 50701434 50701434 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 20 50701434 50701434 G A SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known missense c.1600 p.R534W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 96 0 0 96 30 23.8095 PRPF6 0 genome.wustl.edu 37 20 62630983 62630983 + Silent SNP C C G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 20 62630983 62630983 C G SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known silent c.894 p.L298 1.000 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 193 0 0 201 39 16.25 GRIK1 0 genome.wustl.edu 37 21 31045320 31045320 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 21 31045320 31045320 C T SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.709 p.A237T 0.996 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 320 0 0 30 100 76.9231 KRTAP21-1 0 genome.wustl.edu 37 21 32127679 32127679 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 21 32127679 32127679 G A SNP KRTAP21-1 ENST00000335093 human ensembl 74_37 -1 known silent c.18 p.Y6 0.130 NULL NULL - no_errors KRTAP21-1 HGNC ENSG00000187005 313 0 0 45 152 77.1574 LCA5L 0 genome.wustl.edu 37 21 40778371 40778371 + Missense_Mutation SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 21 40778371 40778371 G T SNP LCA5L ENST00000288350 human ensembl 74_37 -1 known missense c.1450 p.Q484K 0.001 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 71 0 0 25 2 7.40741 POM121L9P 0 genome.wustl.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 22 24659734 24659734 T C SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POM121L9P HGNC ENSG00000128262 22 0 0 16 4 20 EFCAB6 0 genome.wustl.edu 37 22 43996139 43996139 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 22 43996139 43996139 C T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.2686 p.D896N 0.995 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 217 0 0 100 37 27.0073 SENP7 0 genome.wustl.edu 37 3 101062717 101062717 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 101062717 101062717 G A SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known missense c.1919 p.T640M 0.986 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 38 0 0 6 12 66.6667 TMPRSS7 0 genome.wustl.edu 37 3 111782387 111782387 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 111782387 111782387 C T SNP TMPRSS7 ENST00000419127 human ensembl 74_37 +1 known missense c.1085 p.S362F 0.981 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS7 HGNC ENSG00000176040 353 0 0 159 49 23.5577 ZBTB38 0 genome.wustl.edu 37 3 141162147 141162147 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 141162147 141162147 G A SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known missense c.920 p.R307H 0.000 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 215 0 0 87 34 28.0992 TNFSF10 0 genome.wustl.edu 37 3 172224683 172224683 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 172224683 172224683 G A SNP TNFSF10 ENST00000241261 human ensembl 74_37 -1 known missense c.445 p.R149C 0.912 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom - no_errors TNFSF10 HGNC ENSG00000121858 46 0 0 5 6 54.5455 PIGZ 0 genome.wustl.edu 37 3 196675164 196675164 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 196675164 196675164 G A SNP PIGZ ENST00000412723 human ensembl 74_37 -1 known missense c.604 p.R202C 0.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 119 0 0 90 23 20.354 HMGB1P5 0 genome.wustl.edu 37 3 22424090 22424090 + RNA SNP A A T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 22424090 22424090 A T SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 25 0 0 4 4 50 STT3B 0 genome.wustl.edu 37 3 31658494 31658494 + Missense_Mutation SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 31658494 31658494 G T SNP STT3B ENST00000295770 human ensembl 74_37 +1 known missense c.1050 p.Q350H 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 279 0 0 66 33 33.3333 MYRIP 0 genome.wustl.edu 37 3 39942407 39942407 + Missense_Mutation SNP G G C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 39942407 39942407 G C SNP MYRIP ENST00000302541 human ensembl 74_37 +1 known missense c.100 p.E34Q 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MYRIP HGNC ENSG00000170011 115 0 0 23 15 39.4737 PTPN23 0 genome.wustl.edu 37 3 47451047 47451047 + Silent SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 47451047 47451047 C T SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known silent c.1938 p.D646 0.048 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 36 0 0 16 11 40.7407 RNF123 0 genome.wustl.edu 37 3 49738938 49738938 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 49738938 49738938 G A SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.1292 p.R431H 0.998 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 111 0 0 38 26 40.625 UBA7 0 genome.wustl.edu 37 3 49845248 49845248 + Missense_Mutation SNP C C A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 49845248 49845248 C A SNP UBA7 ENST00000333486 human ensembl 74_37 -1 known missense c.2636 p.S879I 0.039 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 108 0 0 21 16 43.2432 GRM2 0 genome.wustl.edu 37 3 51750017 51750017 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 51750017 51750017 C T SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.2228 p.T743M 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 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_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 121 0 0 48 21 30.4348 IQCF3 0 genome.wustl.edu 37 3 51864501 51864501 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 51864501 51864501 G A SNP IQCF3 ENST00000437810 human ensembl 74_37 +1 known missense c.149 p.R50H 0.883 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF3 HGNC ENSG00000229972 95 0 0 34 24 41.3793 CACNA2D3 0 genome.wustl.edu 37 3 54798283 54798283 + Nonsense_Mutation SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 54798283 54798283 G T SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known nonsense c.1285 p.E429* 1.000 smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 249 0 0 58 34 36.9565 LRTM1 0 genome.wustl.edu 37 3 54958856 54958856 + Missense_Mutation SNP T T C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 54958856 54958856 T C SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.394 p.N132D 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 92 0 0 22 14 38.8889 FAM208A 0 genome.wustl.edu 37 3 56667109 56667109 + Missense_Mutation SNP T T C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 56667109 56667109 T C SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known missense c.3527 p.H1176R 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 64 0 0 15 11 42.3077 MAGI1 0 genome.wustl.edu 37 3 65415678 65415678 + Missense_Mutation SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 65415678 65415678 G T SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.1684 p.P562T 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 101 0 0 35 2 5.40541 ROBO2 0 genome.wustl.edu 37 3 77572049 77572049 + Silent SNP C C G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 77572049 77572049 C G SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known silent c.930 p.V310 1.000 pfam_Ig_I-set,smart_Ig_sub 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 - no_errors ROBO2 HGNC ENSG00000185008 140 0 0 32 18 36 PPP3CA 0 genome.wustl.edu 37 4 102004367 102004367 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 4 102004367 102004367 C T SNP PPP3CA ENST00000394854 human ensembl 74_37 -1 known missense c.836 p.R279Q 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 633 0 0 227 141 38.3152 ANXA5 0 genome.wustl.edu 37 4 122607448 122607448 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 4 122607448 122607448 C T SNP ANXA5 ENST00000296511 human ensembl 74_37 -1 known missense c.89 p.G30D 1.000 pfam_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV - no_errors ANXA5 HGNC ENSG00000164111 91 0 0 34 29 46.0317 KIAA1109 0 genome.wustl.edu 37 4 123268832 123268832 + Missense_Mutation SNP A A G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 4 123268832 123268832 A G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.13027 p.M4343V 0.896 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 100 0 0 35 37 51.3889 NEK1 0 genome.wustl.edu 37 4 170483003 170483003 + Missense_Mutation SNP C C G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 4 170483003 170483003 C G SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known missense c.1120 p.E374Q 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 55 0 0 19 14 42.4242 GPM6A 0 genome.wustl.edu 37 4 176594963 176594963 + Silent SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 4 176594963 176594963 G T SNP GPM6A ENST00000280187 human ensembl 74_37 -1 known silent c.255 p.I85 1.000 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6A HGNC ENSG00000150625 54 0 0 22 13 37.1429 KCNIP4 0 genome.wustl.edu 37 4 21305486 21305486 + Missense_Mutation SNP A A G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 4 21305486 21305486 A G SNP KCNIP4 ENST00000382150 human ensembl 74_37 -1 known missense c.44 p.I15T 1.000 NULL pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP4 HGNC ENSG00000185774 126 0 0 55 8 12.6984 ATP10D 0 genome.wustl.edu 37 4 47570926 47570926 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 4 47570926 47570926 G A SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.2926 p.V976M 0.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 146 1 0.680272 73 28 27.7228 EPHA5 0 genome.wustl.edu 37 4 66361149 66361149 + Missense_Mutation SNP A A T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 4 66361149 66361149 A T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.1023 p.D341E 1.000 superfamily_Growth_fac_rcpt_N_dom,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,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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 291 0 0 86 65 43.0464 PCDHA2 0 genome.wustl.edu 37 5 140176666 140176666 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 5 140176666 140176666 C T SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.2117 p.A706V 0.932 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 264 0 0 31 160 83.7696 PCDHA10 0 genome.wustl.edu 37 5 140235681 140235681 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 5 140235681 140235681 G A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known silent c.48 p.S16 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 76 0 0 83 6 6.74157 FAT2 0 genome.wustl.edu 37 5 150932811 150932811 + Silent SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 5 150932811 150932811 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.4083 p.T1361 0.417 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 107 0 0 97 27 21.7742 CDHR2 0 genome.wustl.edu 37 5 176003123 176003123 + Silent SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 5 176003123 176003123 C T SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known silent c.1131 p.D377 0.011 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 103 0 0 101 10 9.00901 CDH18 0 genome.wustl.edu 37 5 19747254 19747254 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 5 19747254 19747254 G A SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.320 p.T107M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 122 0 0 58 32 35.5556 RXFP3 0 genome.wustl.edu 37 5 33937024 33937024 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 5 33937024 33937024 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.179 p.A60V 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 144 0 0 80 66 45.2055 C6 0 genome.wustl.edu 37 5 41149449 41149449 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 5 41149449 41149449 G A SNP C6 ENST00000263413 human ensembl 74_37 -1 known silent c.2517 p.D839 0.026 smart_FacI_MAC pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 271 0 0 107 64 37.4269 TTC37 0 genome.wustl.edu 37 5 94803591 94803591 + Missense_Mutation SNP T T G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 5 94803591 94803591 T G SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.4599 p.K1533N 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 65 0 0 9 41 82 SIM1 0 genome.wustl.edu 37 6 100895235 100895235 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 6 100895235 100895235 C T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.907 p.G303S 1.000 pfam_PAS_fold_3,superfamily_PAS,smart_PAC 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 69 0 0 38 22 36.6667 LAMA4 0 genome.wustl.edu 37 6 112460383 112460383 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 6 112460383 112460383 C T SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.3221 p.R1074H 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 258 0 0 106 69 39.4286 HSF2 0 genome.wustl.edu 37 6 122733900 122733900 + Missense_Mutation SNP T T G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 6 122733900 122733900 T G SNP HSF2 ENST00000368455 human ensembl 74_37 +1 known missense c.321 p.I107M 1.000 pfam_HSF_DNA-bd,smart_HSF_DNA-bd pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF2 HGNC ENSG00000025156 193 0 0 91 46 33.5766 TMEM200A 0 genome.wustl.edu 37 6 130762455 130762455 + Missense_Mutation SNP T T G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 6 130762455 130762455 T G SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known missense c.888 p.N296K 1.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 159 0 0 67 40 37.3832 THBS2 0 genome.wustl.edu 37 6 169637779 169637779 + Missense_Mutation SNP G G C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 6 169637779 169637779 G C SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.1241 p.T414S 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 65 0 0 43 35 44.8718 TNXB 0 genome.wustl.edu 37 6 32017144 32017144 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 6 32017144 32017144 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.9654 p.T3218 0.015 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 105 0 0 38 43 53.0864 KIFC1 0 genome.wustl.edu 37 6 33373998 33373998 + Missense_Mutation SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 6 33373998 33373998 G T SNP KIFC1 ENST00000428849 human ensembl 74_37 +1 known missense c.1562 p.R521L 0.176 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 261 1 0.381679 118 89 42.9952 DNAH8 0 genome.wustl.edu 37 6 38747759 38747759 + Missense_Mutation SNP T T A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 6 38747759 38747759 T A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.1406 p.I469N 0.998 pfam_Dynein_heavy_dom-1 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 90 0 0 42 17 28.8136 SLC35B2 0 genome.wustl.edu 37 6 44224424 44224424 + Missense_Mutation SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 6 44224424 44224424 G T SNP SLC35B2 ENST00000393812 human ensembl 74_37 -1 known missense c.203 p.T68N 1.000 NULL pfam_UAA,pfam_DMT - no_errors SLC35B2 HGNC ENSG00000157593 358 0 0 400 123 23.5182 TDRD6 0 genome.wustl.edu 37 6 46656738 46656738 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 6 46656738 46656738 G A SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known silent c.873 p.T291 0.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 58 0 0 95 21 18.1034 HTR1B 0 genome.wustl.edu 37 6 78172800 78172800 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 6 78172800 78172800 G A SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known silent c.321 p.T107 0.870 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADR_fam pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 186 1 0.534759 98 66 40.2439 MUC17 0 genome.wustl.edu 37 7 100685100 100685100 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 7 100685100 100685100 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.10403 p.T3468M 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 708 0 0 441 124 21.9469 PPP1R3A 0 genome.wustl.edu 37 7 113519431 113519431 + Silent SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 7 113519431 113519431 G T SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known silent c.1716 p.I572 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 164 1 0.606061 63 55 46.6102 CTTNBP2 0 genome.wustl.edu 37 7 117432339 117432339 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 7 117432339 117432339 G A SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.911 p.S304F 0.960 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 226 0 0 88 84 48.8372 CNTNAP2 0 genome.wustl.edu 37 7 146471395 146471395 + Missense_Mutation SNP C C A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 7 146471395 146471395 C A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.130 p.P44T 0.993 superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_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,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 60 0 0 24 10 29.4118 RBM33 0 genome.wustl.edu 37 7 155530991 155530991 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 7 155530991 155530991 G A SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.1631 p.S544N 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 132 0 0 64 68 51.5152 EFR3A 0 genome.wustl.edu 37 8 132962286 132962286 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 8 132962286 132962286 G A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.437 p.R146Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 21 0 0 18 2 10 VPS28 0 genome.wustl.edu 37 8 145652279 145652279 + RNA SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 8 145652279 145652279 C T SNP VPS28 ENST00000524521 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors VPS28 HGNC ENSG00000160948 33 0 0 19 17 47.2222 FAM110B 0 genome.wustl.edu 37 8 59059489 59059489 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 8 59059489 59059489 G A SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known missense c.700 p.A234T 0.000 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 239 0 0 110 103 48.3568 PKIA 0 genome.wustl.edu 37 8 79510750 79510750 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 8 79510750 79510750 G A SNP PKIA ENST00000352966 human ensembl 74_37 +1 known missense c.131 p.G44D 1.000 pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI - no_errors PKIA HGNC ENSG00000171033 209 0 0 103 28 21.374 CNGB3 0 genome.wustl.edu 37 8 87641191 87641191 + Missense_Mutation SNP A A G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 8 87641191 87641191 A G SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.1436 p.V479A 1.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 298 0 0 104 43 29.2517 FOXE1 0 genome.wustl.edu 37 9 100616561 100616561 + Missense_Mutation SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 9 100616561 100616561 G A SNP FOXE1 ENST00000375123 human ensembl 74_37 +1 known missense c.365 p.G122D 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXE1 HGNC ENSG00000178919 126 0 0 75 30 28.5714 SMC2 0 genome.wustl.edu 37 9 106874035 106874035 + Silent SNP T T C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 9 106874035 106874035 T C SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known silent c.1194 p.L398 0.991 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 98 0 0 34 11 24.4444 OR13C4 0 genome.wustl.edu 37 9 107289406 107289406 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 9 107289406 107289406 C T SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known missense c.85 p.A29T 0.005 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 141 0 0 59 16 21.3333 ZNF462 0 genome.wustl.edu 37 9 109688314 109688314 + Missense_Mutation SNP T T G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 9 109688314 109688314 T G SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.2121 p.I707M 0.441 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 210 0 0 66 71 51.8248 OR1L1 0 genome.wustl.edu 37 9 125424622 125424622 + Missense_Mutation SNP C C G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 9 125424622 125424622 C G SNP OR1L1 ENST00000373686 human ensembl 74_37 +1 known missense c.778 p.P260A 0.072 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 OR1L1 HGNC ENSG00000173679 326 0 0 185 33 15.1376 SPTAN1 0 genome.wustl.edu 37 9 131353779 131353779 + Silent SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 9 131353779 131353779 C T SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known silent c.3030 p.N1010 0.906 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 230 0 0 135 95 41.3043 NUP188 0 genome.wustl.edu 37 9 131764194 131764194 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 9 131764194 131764194 C T SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.4076 p.T1359I 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 111 0 0 81 33 28.9474 FOCAD 0 genome.wustl.edu 37 9 20885253 20885253 + RNA SNP T T C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 9 20885253 20885253 T C SNP FOCAD ENST00000603552 human ensembl 74_37 +1 known rna NULL NULL 0.403 - - - no_errors FOCAD HGNC ENSG00000188352 121 1 0.819672 64 13 16.8831 LINGO2 0 genome.wustl.edu 37 9 27950155 27950155 + Missense_Mutation SNP G G T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 9 27950155 27950155 G T SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.515 p.A172E 1.000 smart_Leu-rich_rpt_typical-subtyp 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 86 0 0 30 27 47.3684 TLN1 0 genome.wustl.edu 37 9 35697858 35697858 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 9 35697858 35697858 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.7556 p.R2519Q 1.000 pfam_ILWEQ_dom,smart_ILWEQ_dom,pfscan_ILWEQ_dom pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 116 0 0 41 26 38.806 OMD 0 genome.wustl.edu 37 9 95179787 95179787 + Silent SNP T T C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 9 95179787 95179787 T C SNP OMD ENST00000375550 human ensembl 74_37 -1 known silent c.54 p.V18 0.967 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMD HGNC ENSG00000127083 83 0 0 29 7 19.4444 COL4A6 0 genome.wustl.edu 37 X 107413932 107413932 + Missense_Mutation SNP C C A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 X 107413932 107413932 C A SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.3403 p.A1135S 0.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 159 0 0 24 95 79.8319 IGSF1 0 genome.wustl.edu 37 X 130410118 130410118 + Missense_Mutation SNP C C T TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 X 130410118 130410118 C T SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.2728 p.A910T 0.982 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 77 0 0 42 19 31.1475 SLITRK2 0 genome.wustl.edu 37 X 144904389 144904389 + Missense_Mutation SNP T T C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 X 144904389 144904389 T C SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.446 p.I149T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 96 0 0 9 41 82 PTCHD1 0 genome.wustl.edu 37 X 23411150 23411150 + Silent SNP T T A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 X 23411150 23411150 T A SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known silent c.1515 p.V505 0.962 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 129 0 0 17 85 83.3333 GLOD5 0 genome.wustl.edu 37 X 48631908 48631908 + RNA SNP C C A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 X 48631908 48631908 C A SNP GLOD5 ENST00000470676 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors GLOD5 HGNC ENSG00000171433 40 0 0 33 3 8.33333 HDAC6 0 genome.wustl.edu 37 X 48678618 48678618 + Missense_Mutation SNP C C A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 X 48678618 48678618 C A SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known missense c.2335 p.L779M 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 45 0 0 6 36 85.7143 KDM5C 0 genome.wustl.edu 37 X 53241008 53241008 + Silent SNP G G A TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 X 53241008 53241008 G A SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known silent c.1203 p.A401 0.477 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 25 0 0 3 15 83.3333 AR 0 genome.wustl.edu 37 X 66863123 66863123 + Missense_Mutation SNP T T G TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 X 66863123 66863123 T G SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.1642 p.L548V 0.992 NULL pfam_Andrgn_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_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 64 0 0 9 31 77.5 ATM 0 genome.wustl.edu 37 11 108216477 108216478 + Frame_Shift_Del DEL AA AA - TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 11 108216477 108216478 AA - DEL ATM ENST00000278616 human ensembl 74_37 +1 known frame_shift_del c.8426_8427 p.K2811fs 1.000:0.983 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 208 0 0 23 50 68.4932 ITPR2 0 genome.wustl.edu 37 12 26580960 26580961 + Frame_Shift_Ins INS - - AT TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 12 26580960 26580961 - AT INS ITPR2 ENST00000381340 human ensembl 74_37 -1 known frame_shift_ins c.6831_6830 p.M2277fs 0.982:0.937 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 76 0 0 54 74 57.8125 ZNF227 0 genome.wustl.edu 37 19 44740730 44740730 + Frame_Shift_Del DEL A A - TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 19 44740730 44740730 A - DEL ZNF227 ENST00000313040 human ensembl 74_37 +1 known frame_shift_del c.2147 p.H716fs 0.015 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 ZNF227 HGNC ENSG00000131115 185 0 0 102 47 31.5436 HMGB1P5 0 genome.wustl.edu 37 3 22424081 22424081 + RNA DEL T T - TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 3 22424081 22424081 T - DEL HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 36 0 0 6 4 40 CDH10 0 genome.wustl.edu 37 5 24492978 24492979 + Frame_Shift_Ins INS - - C TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 5 24492978 24492979 - C INS CDH10 ENST00000264463 human ensembl 74_37 -1 known frame_shift_ins c.1572_1571 p.F524fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 233 0 0 98 46 31.9444 CUL9 0 genome.wustl.edu 37 6 43183962 43183964 + In_Frame_Del DEL AGT AGT - TCGA-HU-8249-01A-11D-2340-08 TCGA-HU-8249-10A-01D-2341-08 AGT AGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dfc66601-8435-48f1-a89a-f3aeeb3f6781 ba8142ed-40ef-4968-a4d9-38e6f5a15008 6 43183962 43183964 AGT - DEL CUL9 ENST00000252050 human ensembl 74_37 +1 known in_frame_del c.6003_6005 p.V2002in_frame_del 1.000:1.000:0.999 superfamily_UBA-like pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 40 0 0 51 14 21.5385