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 KCNJ10 0 genome.wustl.edu 37 1 160011396 160011396 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 1 160011396 160011396 G A SNP KCNJ10 ENST00000368089 human ensembl 74_37 -1 known silent c.927 p.Y309 0.708 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 54 0 0 59 7 10.6061 EPHA2 0 genome.wustl.edu 37 1 16460017 16460017 + Missense_Mutation SNP A A C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 1 16460017 16460017 A C SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.1823 p.I608S 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_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,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 73 0 0 41 5 10.8696 C1orf112 0 genome.wustl.edu 37 1 169822808 169822808 + RNA SNP T T A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 1 169822808 169822808 T A SNP C1orf112 ENST00000459772 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C1orf112 HGNC ENSG00000000460 112 0 0 107 30 21.8978 COLGALT2 0 genome.wustl.edu 37 1 183938600 183938600 + Missense_Mutation SNP T T C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 1 183938600 183938600 T C SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known missense c.635 p.Y212C 1.000 NULL pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 73 0 0 64 4 5.88235 KLHDC7A 0 genome.wustl.edu 37 1 18807953 18807953 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 1 18807953 18807953 C A SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known missense c.478 p.R160S 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 71 0 0 36 4 10 CAMSAP2 0 genome.wustl.edu 37 1 200818182 200818182 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 1 200818182 200818182 G A SNP CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known missense c.2318 p.R773H 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 85 0 0 42 33 44 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 210 0 0 76 28 26.9231 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 227 0 0 92 55 37.415 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_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 115 1 0.862069 37 32 46.3768 HPCAL4 0 genome.wustl.edu 37 1 40150246 40150246 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 1 40150246 40150246 G A SNP HPCAL4 ENST00000372844 human ensembl 74_37 -1 known silent c.30 p.P10 0.059 prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 57 0 0 13 11 45.8333 CAMTA1 0 genome.wustl.edu 37 1 7725168 7725168 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 1 7725168 7725168 C A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.2561 p.A854D 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 69 0 0 32 37 53.6232 ANK3 0 genome.wustl.edu 37 10 61847969 61847969 + Missense_Mutation SNP A A G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 10 61847969 61847969 A G SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.3476 p.V1159A 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 118 0 0 73 60 45.1128 CCAR1 0 genome.wustl.edu 37 10 70496773 70496773 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 10 70496773 70496773 C A SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.214 p.Q72K 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 48 0 0 35 13 27.0833 TSPAN32 0 genome.wustl.edu 37 11 2334953 2334953 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 11 2334953 2334953 C T SNP TSPAN32 ENST00000182290 human ensembl 74_37 +1 known missense c.424 p.R142W 0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 - no_errors TSPAN32 HGNC ENSG00000064201 19 0 0 7 3 30 GLYATL1P2 0 genome.wustl.edu 37 11 58660360 58660360 + RNA SNP T T C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 11 58660360 58660360 T C SNP GLYATL1P2 ENST00000529451 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors GLYATL1P2 HGNC ENSG00000254717 8 0 0 13 7 35 LRP5 0 genome.wustl.edu 37 11 68179069 68179069 + Silent SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 11 68179069 68179069 C T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known silent c.2484 p.I828 0.990 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 49 0 0 31 2 6.06061 DLG2 0 genome.wustl.edu 37 11 83252774 83252774 + Missense_Mutation SNP T T C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 11 83252774 83252774 T C SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.2068 p.M690V 0.998 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pirsf_M-assoc_guanylate_kinase,pfscan_SH3_domain pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 71 0 0 77 12 13.4831 NOS1 0 genome.wustl.edu 37 12 117768839 117768839 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 12 117768839 117768839 C A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.36 p.Q12H 0.997 superfamily_PDZ,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 127 0 0 94 26 21.6667 SFSWAP 0 genome.wustl.edu 37 12 132195869 132195869 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 12 132195869 132195869 G A SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.95 p.R32Q 1.000 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 52 0 0 35 5 12.5 ABCC9 0 genome.wustl.edu 37 12 21958215 21958215 + Missense_Mutation SNP G G C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 12 21958215 21958215 G C SNP ABCC9 ENST00000261201 human ensembl 74_37 -1 known missense c.4543 p.L1515V 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC9 HGNC ENSG00000069431 44 0 0 34 17 33.3333 LRRK2 0 genome.wustl.edu 37 12 40618972 40618972 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 12 40618972 40618972 G A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.39 p.E13 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 43 0 0 31 5 13.8889 ITGB7 0 genome.wustl.edu 37 12 53585371 53585371 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 12 53585371 53585371 C T SNP ITGB7 ENST00000267082 human ensembl 74_37 -1 known missense c.2366 p.R789H 0.002 pirsf_Integrin_bsu,pfam_Integrin_bsu_cyt_dom pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 104 0 0 66 14 17.5 SLC6A15 0 genome.wustl.edu 37 12 85277582 85277582 + Missense_Mutation SNP G G T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 12 85277582 85277582 G T SNP SLC6A15 ENST00000450363 human ensembl 74_37 -1 known missense c.812 p.P271H 0.000 pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A15 HGNC ENSG00000072041 83 0 0 69 12 14.8148 PABPC3 0 genome.wustl.edu 37 13 25670907 25670907 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 13 25670907 25670907 C T SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.571 p.P191S 1.000 pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 111 0 0 101 36 26.2774 MTUS2 0 genome.wustl.edu 37 13 30077317 30077317 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 13 30077317 30077317 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.4114 p.A1372T 0.999 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 67 0 0 55 4 6.77966 CBLN3 0 genome.wustl.edu 37 14 24897156 24897156 + Missense_Mutation SNP C C G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 14 24897156 24897156 C G SNP CBLN3 ENST00000267406 human ensembl 74_37 -1 known missense c.457 p.A153P 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN3 HGNC ENSG00000139899 63 0 0 77 6 7.22892 SNHG14 0 genome.wustl.edu 37 15 25227090 25227090 + RNA SNP T T C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 15 25227090 25227090 T C SNP SNHG14 ENST00000551631 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors SNHG14 HGNC ENSG00000224078 241 0 0 184 13 6.59898 ZSCAN29 0 genome.wustl.edu 37 15 43661186 43661186 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 15 43661186 43661186 C A SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known missense c.458 p.S153I 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 301 0 0 223 27 10.8 SQRDL 0 genome.wustl.edu 37 15 45968443 45968443 + Missense_Mutation SNP C C G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 15 45968443 45968443 C G SNP SQRDL ENST00000260324 human ensembl 74_37 +1 known missense c.799 p.R267G 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors SQRDL HGNC ENSG00000137767 206 0 0 126 19 13.1034 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 74 0 0 30 38 55.8824 OTOA 0 genome.wustl.edu 37 16 21698948 21698948 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 16 21698948 21698948 G A SNP OTOA ENST00000286149 human ensembl 74_37 +1 known missense c.614 p.R205H 0.045 NULL NULL - no_errors OTOA HGNC ENSG00000155719 42 0 0 33 14 29.7872 MT1JP 0 genome.wustl.edu 37 16 56670226 56670226 + RNA SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 16 56670226 56670226 C A SNP MT1JP ENST00000564564 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MT1JP HGNC ENSG00000255986 11 0 0 15 13 46.4286 SF3B3 0 genome.wustl.edu 37 16 70563087 70563087 + Missense_Mutation SNP C C G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 16 70563087 70563087 C G SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.382 p.R128G 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 101 1 0.980392 75 32 29.9065 MYH4 0 genome.wustl.edu 37 17 10368834 10368834 + Nonsense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 17 10368834 10368834 G A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known nonsense c.430 p.R144* 0.864 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 179 1 0.555556 66 60 47.619 DNAH9 0 genome.wustl.edu 37 17 11865462 11865462 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 17 11865462 11865462 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.13122 p.M4374I 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 86 0 0 24 4 14.2857 GRAP 0 genome.wustl.edu 37 17 18925179 18925179 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 17 18925179 18925179 C T SNP GRAP ENST00000573099 human ensembl 74_37 -1 novel missense c.578 p.R193Q 0.000 NULL pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH3_domain,prints_SH2 - no_errors GRAP HGNC ENSG00000154016 8 0 0 1 5 83.3333 WNK4 0 genome.wustl.edu 37 17 40936102 40936102 + Silent SNP T T C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 17 40936102 40936102 T C SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known silent c.939 p.P313 0.973 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 218 0 0 176 16 8.33333 KIF2B 0 genome.wustl.edu 37 17 51901905 51901905 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 17 51901905 51901905 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1511 p.R504Q 0.999 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_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 KIF2B HGNC ENSG00000141200 49 0 0 45 26 36.6197 SEC14L1 0 genome.wustl.edu 37 17 75209432 75209432 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 17 75209432 75209432 C A SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.1900 p.L634M 1.000 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 36 0 0 33 2 5.71429 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273C 0.830 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 37 0 0 11 20 64.5161 EPG5 0 genome.wustl.edu 37 18 43490580 43490580 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 18 43490580 43490580 G A SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.4111 p.R1371C 0.823 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 102 0 0 31 33 51.5625 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,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 ATP9B HGNC ENSG00000166377 42 0 0 7 10 58.8235 UNC13A 0 genome.wustl.edu 37 19 17756598 17756598 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 19 17756598 17756598 G A SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known silent c.2505 p.D835 0.989 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 26 0 0 17 15 46.875 ZNF556 0 genome.wustl.edu 37 19 2877321 2877321 + Missense_Mutation SNP G G T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 19 2877321 2877321 G T SNP ZNF556 ENST00000307635 human ensembl 74_37 +1 known missense c.365 p.R122L 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF556 HGNC ENSG00000172000 74 0 0 64 22 25.5814 TSHZ3 0 genome.wustl.edu 37 19 31767753 31767753 + Silent SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 19 31767753 31767753 C T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.2946 p.A982 0.012 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 84 0 0 49 22 30.9859 KDM4B 0 genome.wustl.edu 37 19 5033012 5033012 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 19 5033012 5033012 G A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known silent c.111 p.S37 0.942 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 223 0 0 128 84 39.6226 TMC4 0 genome.wustl.edu 37 19 54676754 54676754 + Missense_Mutation SNP G G C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 19 54676754 54676754 G C SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.59 p.A20G 0.989 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 282 1 0.353357 170 22 11.4583 LILRA2 0 genome.wustl.edu 37 19 55086958 55086958 + Silent SNP T T C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 19 55086958 55086958 T C SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known silent c.891 p.S297 0.133 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 142 1 0.699301 77 5 6.09756 MARCH4 0 genome.wustl.edu 37 2 217142429 217142429 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 2 217142429 217142429 G A SNP MARCH4 ENST00000273067 human ensembl 74_37 -1 known silent c.831 p.Y277 0.082 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 212 0 0 88 86 49.4253 EHD3 0 genome.wustl.edu 37 2 31489161 31489161 + Missense_Mutation SNP A A G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 2 31489161 31489161 A G SNP EHD3 ENST00000322054 human ensembl 74_37 +1 known missense c.1199 p.E400G 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 44 0 0 32 3 8.57143 LRRTM4 0 genome.wustl.edu 37 2 77746894 77746894 + Missense_Mutation SNP C C G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 2 77746894 77746894 C G SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.104 p.C35S 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 48 0 0 16 21 56.7568 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 20 5948171 5948171 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.965 p.S322N 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 100 0 0 40 32 44.4444 MYT1 0 genome.wustl.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 20 62839353 62839353 A G SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known silent c.804 p.E268 0.106 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 21 0 0 43 3 6.52174 KRTAP26-1 0 genome.wustl.edu 37 21 31691973 31691973 + Silent SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 21 31691973 31691973 C T SNP KRTAP26-1 ENST00000360542 human ensembl 74_37 -1 known silent c.381 p.P127 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP26-1 HGNC ENSG00000197683 231 1 0.431034 58 34 36.9565 MICAL3 0 genome.wustl.edu 37 22 18347703 18347703 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 22 18347703 18347703 C T SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.2567 p.R856Q 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 116 1 0.854701 68 20 22.7273 HIRA 0 genome.wustl.edu 37 22 19341023 19341023 + Missense_Mutation SNP G G C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 22 19341023 19341023 G C SNP HIRA ENST00000263208 human ensembl 74_37 -1 known missense c.2704 p.R902G 1.000 pfam_Hira pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 33 0 0 7 16 69.5652 COL7A1 0 genome.wustl.edu 37 3 48630223 48630223 + Silent SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 3 48630223 48630223 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.831 p.P277 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 82 0 0 51 13 20.3125 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 123 0 0 57 23 28.75 WDR6 0 genome.wustl.edu 37 3 49049728 49049728 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 3 49049728 49049728 G A SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known missense c.851 p.C284Y 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 128 1 0.775194 81 23 22.1154 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 166 0 0 50 38 43.1818 GRM2 0 genome.wustl.edu 37 3 51747088 51747088 + Missense_Mutation SNP G G C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 3 51747088 51747088 G C SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.1050 p.E350D 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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 66 0 0 18 10 35.7143 SEC24B 0 genome.wustl.edu 37 4 110460756 110460756 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 4 110460756 110460756 G A SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known silent c.3732 p.L1244 1.000 NULL 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 SEC24B HGNC ENSG00000138802 82 0 0 52 11 17.4603 SPON2 0 genome.wustl.edu 37 4 1164196 1164196 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 4 1164196 1164196 C T SNP SPON2 ENST00000290902 human ensembl 74_37 -1 known missense c.805 p.A269T 0.145 NULL pfam_Spondin_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Spondin_N,pfscan_Thrombospondin_1_rpt - no_errors SPON2 HGNC ENSG00000159674 233 0 0 124 54 30.3371 TTC29 0 genome.wustl.edu 37 4 147755035 147755035 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 4 147755035 147755035 G A SNP TTC29 ENST00000398886 human ensembl 74_37 -1 known silent c.978 p.Y326 0.001 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC29 HGNC ENSG00000137473 23 0 0 30 6 16.6667 TMEM192 0 genome.wustl.edu 37 4 166000864 166000864 + Silent SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 4 166000864 166000864 C T SNP TMEM192 ENST00000306480 human ensembl 74_37 -1 known silent c.762 p.K254 0.711 NULL NULL - no_errors TMEM192 HGNC ENSG00000170088 37 0 0 35 3 7.89474 WDFY3 0 genome.wustl.edu 37 4 85617299 85617299 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 4 85617299 85617299 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.8725 p.E2909K 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 136 0 0 121 15 11.0294 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 161 0 0 70 42 37.5 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 160 0 0 62 63 50.4 PCDHA9 0 genome.wustl.edu 37 5 140229393 140229393 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 5 140229393 140229393 C T SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1313 p.T438M 0.011 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 160 0 0 116 62 34.8315 PLEKHG4B 0 genome.wustl.edu 37 5 140749 140749 + Silent SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 5 140749 140749 G A SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known silent c.327 p.R109 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 44 0 0 9 6 40 PCDHGA9 0 genome.wustl.edu 37 5 140782934 140782934 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 5 140782934 140782934 G A SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known missense c.415 p.E139K 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 172 0 0 94 49 34.2657 PCDHGA9 0 genome.wustl.edu 37 5 140782949 140782949 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 5 140782949 140782949 G A SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known missense c.430 p.E144K 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 164 0 0 94 45 32.3741 AMACR 0 genome.wustl.edu 37 5 33989517 33989517 + Missense_Mutation SNP T T G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 5 33989517 33989517 T G SNP AMACR ENST00000335606 human ensembl 74_37 -1 known missense c.830 p.E277A 1.000 superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 61 0 0 60 4 6.25 ADAMTS16 0 genome.wustl.edu 37 5 5237184 5237184 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 5 5237184 5237184 G A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2126 p.R709H 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 72 0 0 73 24 24.7423 PTPRK 0 genome.wustl.edu 37 6 128643430 128643430 + Silent SNP T T G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 6 128643430 128643430 T G SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known silent c.249 p.S83 0.095 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 147 0 0 117 14 10.687 CLPSL1 0 genome.wustl.edu 37 6 35754860 35754860 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 6 35754860 35754860 C T SNP CLPSL1 ENST00000373861 human ensembl 74_37 +1 known missense c.185 p.A62V 0.000 smart_Colipase,prints_Colipase smart_Colipase,prints_Colipase - no_errors CLPSL1 HGNC ENSG00000204140 37 0 0 12 6 33.3333 PKHD1 0 genome.wustl.edu 37 6 51875133 51875133 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 6 51875133 51875133 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.5725 p.R1909W 1.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 52 0 0 69 10 12.6582 AHR 0 genome.wustl.edu 37 7 17379566 17379566 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 7 17379566 17379566 C T SNP AHR ENST00000242057 human ensembl 74_37 +1 known missense c.2117 p.P706L 0.075 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors AHR HGNC ENSG00000106546 93 0 0 115 44 27.673 HDAC9 0 genome.wustl.edu 37 7 18705931 18705931 + Silent SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 7 18705931 18705931 C T SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known silent c.1563 p.D521 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 162 0 0 76 37 32.7434 SDK1 0 genome.wustl.edu 37 7 4188947 4188947 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 7 4188947 4188947 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.4477 p.R1493C 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 31 0 0 18 3 14.2857 FAM86B1 0 genome.wustl.edu 37 8 12049320 12049320 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 8 12049320 12049320 C A SNP FAM86B1 ENST00000448228 human ensembl 74_37 -1 known missense c.127 p.D43Y 0.202 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86B1 HGNC ENSG00000186523 21 0 0 37 7 15.9091 DEPTOR 0 genome.wustl.edu 37 8 120942125 120942125 + Missense_Mutation SNP C C G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 8 120942125 120942125 C G SNP DEPTOR ENST00000286234 human ensembl 74_37 +1 known missense c.372 p.F124L 1.000 NULL pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 109 0 0 97 65 40.1235 WRN 0 genome.wustl.edu 37 8 30977918 30977918 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 8 30977918 30977918 C T SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.2608 p.P870S 0.998 superfamily_P-loop_NTPase,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 57 0 0 92 29 23.9669 FUT10 0 genome.wustl.edu 37 8 33230241 33230241 + Missense_Mutation SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 8 33230241 33230241 G A SNP FUT10 ENST00000327671 human ensembl 74_37 -1 known missense c.1294 p.R432W 0.032 pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC ENSG00000172728 57 0 0 56 21 27.2727 TRPM6 0 genome.wustl.edu 37 9 77403574 77403574 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 9 77403574 77403574 C A SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.2623 p.V875F 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 112 0 0 57 19 25 TRMT2B 0 genome.wustl.edu 37 X 100274308 100274308 + Missense_Mutation SNP A A G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d X 100274308 100274308 A G SNP TRMT2B ENST00000372935 human ensembl 74_37 -1 known missense c.1253 p.I418T 0.018 pfam_U5_MeTrfase pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC ENSG00000188917 114 0 0 55 11 16.6667 KCNE1L 0 genome.wustl.edu 37 X 108868162 108868162 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d X 108868162 108868162 C A SNP KCNE1L ENST00000372101 human ensembl 74_37 -1 known missense c.88 p.G30C 0.334 NULL NULL - no_errors KCNE1L HGNC ENSG00000176076 36 0 0 6 7 53.8462 F9 0 genome.wustl.edu 37 X 138633424 138633424 + Splice_Site SNP G G A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d X 138633424 138633424 G A SNP F9 ENST00000218099 human ensembl 74_37 +1 known splice_site c.723+1 e6+1 1.000 - - - no_errors F9 HGNC ENSG00000101981 68 0 0 31 28 47.4576 MAGEC3 0 genome.wustl.edu 37 X 140984592 140984592 + Missense_Mutation SNP C C A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d X 140984592 140984592 C A SNP MAGEC3 ENST00000536088 human ensembl 74_37 +1 known missense c.154 p.P52T 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 55 0 0 30 7 18.9189 FAM47B 0 genome.wustl.edu 37 X 34962140 34962140 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d X 34962140 34962140 C T SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.1192 p.R398C 0.794 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 59 0 0 66 7 9.58904 SHROOM4 0 genome.wustl.edu 37 X 50376816 50376816 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d X 50376816 50376816 C T SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known missense c.2257 p.E753K 0.987 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 77 0 0 88 11 11.1111 CXorf67 0 genome.wustl.edu 37 X 51150325 51150325 + Missense_Mutation SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d X 51150325 51150325 C T SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.457 p.R153C 0.005 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 14 0 0 3 3 50 P2RY4 0 genome.wustl.edu 37 X 69478801 69478801 + Missense_Mutation SNP C C G TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d X 69478801 69478801 C G SNP P2RY4 ENST00000374519 human ensembl 74_37 -1 known missense c.674 p.R225P 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 43 0 0 20 13 39.3939 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037867 10037867 + RNA SNP C C T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d Y 10037867 10037867 C T SNP RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 18 0 0 22 5 18.5185 OTOGL 0 genome.wustl.edu 37 12 80717514 80717514 + Frame_Shift_Del DEL G G - TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 12 80717514 80717514 G - DEL OTOGL ENST00000458043 human ensembl 74_37 +1 known frame_shift_del c.4066 p.A1356fs 0.998 superfamily_AbfB pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 40 0 0 31 17 35.4167 ENSG00000259479 0 genome.wustl.edu 37 15 45123755 45123756 + RNA INS - - C TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 15 45123755 45123756 - C INS ENSG00000259479 ENST00000561384 human ensembl 74_37 -1 putative rna NULL NULL 0.632:0.983 - - - no_errors CTD-2008A1.2 Clone_based_vega_gene ENSG00000259479 14 0 0 3 4 57.1429 CWC27 0 genome.wustl.edu 37 5 64181325 64181326 + Frame_Shift_Ins INS - - A TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 5 64181325 64181326 - A INS CWC27 ENST00000381070 human ensembl 74_37 +1 known frame_shift_ins c.994_995 p.V335fs 1.000:1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors CWC27 HGNC ENSG00000153015 31 0 0 24 3 11.1111 NACAP1 0 genome.wustl.edu 37 8 102381883 102381883 + RNA DEL A A - TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 8 102381883 102381883 A - DEL NACAP1 ENST00000419462 human ensembl 74_37 +1 known rna NULL NULL 0.879 - - - no_errors NACAP1 HGNC ENSG00000228224 31 0 0 41 6 12.766 CHRNA6 0 genome.wustl.edu 37 8 42611731 42611732 + Frame_Shift_Del DEL CT CT - TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d 8 42611731 42611732 CT - DEL CHRNA6 ENST00000276410 human ensembl 74_37 -1 known frame_shift_del c.611_610 p.S204fs 1.000:1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 111 0 0 134 47 25.9669 F8 0 genome.wustl.edu 37 X 154157239 154157240 + Frame_Shift_Ins INS - - T TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d X 154157239 154157240 - T INS F8 ENST00000360256 human ensembl 74_37 -1 known frame_shift_ins c.4826_4825 p.T1609fs 0.000:0.001 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 285 0 0 226 64 22.069 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-D7-8576-01A-11D-2340-08 TCGA-D7-8576-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 55fb5533-c4fb-4868-8763-265bb849e87e d42e8bcc-afc8-4482-aae0-94de92c6d54d Y 10037863 10037863 C - DEL RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 24 0 0 28 4 12.5