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 MTOR 0 genome.wustl.edu 37 1 11181417 11181417 + Silent SNP C C A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 1 11181417 11181417 C A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known silent c.6819 p.P2273 0.939 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 195 0 0 71 6 7.79221 BCL2L15 0 genome.wustl.edu 37 1 114429946 114429946 + Silent SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 1 114429946 114429946 G A SNP BCL2L15 ENST00000393316 human ensembl 74_37 -1 known silent c.52 p.L18 0.022 NULL NULL - no_errors BCL2L15 HGNC ENSG00000188761 237 0 0 140 9 6.04027 FLG 0 genome.wustl.edu 37 1 152286817 152286817 + Missense_Mutation SNP T T G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 1 152286817 152286817 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.545 p.K182T 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 228 0 0 116 37 24.183 PVRL4 0 genome.wustl.edu 37 1 161043088 161043088 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 1 161043088 161043088 G A SNP PVRL4 ENST00000368012 human ensembl 74_37 -1 known missense c.1235 p.P412L 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PVRL4 HGNC ENSG00000143217 71 0 0 28 8 22.2222 PRDX6 0 genome.wustl.edu 37 1 173457025 173457025 + RNA SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 1 173457025 173457025 G A SNP PRDX6 ENST00000470017 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors PRDX6 HGNC ENSG00000117592 113 0 0 40 11 21.5686 MUL1 0 genome.wustl.edu 37 1 20827537 20827537 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 1 20827537 20827537 C T SNP MUL1 ENST00000264198 human ensembl 74_37 -1 known silent c.705 p.S235 0.017 pfam_MULAN pfam_MULAN,pfscan_Znf_RING - no_errors MUL1 HGNC ENSG00000090432 143 0 0 76 19 20 ACTN2 0 genome.wustl.edu 37 1 236850010 236850010 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 1 236850010 236850010 G A SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.37 p.V13M 1.000 superfamily_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 41 0 0 29 12 29.2683 EXO5 0 genome.wustl.edu 37 1 40981216 40981216 + Missense_Mutation SNP G G C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 1 40981216 40981216 G C SNP EXO5 ENST00000296380 human ensembl 74_37 +1 known missense c.1000 p.G334R 1.000 pfam_EXOV pfam_EXOV - no_errors EXO5 HGNC ENSG00000164002 110 0 0 65 4 5.7971 ZSWIM5 0 genome.wustl.edu 37 1 45501806 45501806 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 1 45501806 45501806 C T SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known missense c.2060 p.R687H 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 121 0 0 77 17 18.0851 LURAP1 0 genome.wustl.edu 37 1 46685674 46685674 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 1 46685674 46685674 G A SNP LURAP1 ENST00000371980 human ensembl 74_37 +1 known missense c.502 p.E168K 0.007 NULL NULL - no_errors LURAP1 HGNC ENSG00000171357 167 0 0 68 23 25.2747 UPF2 0 genome.wustl.edu 37 10 11971960 11971960 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 10 11971960 11971960 C T SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known missense c.3713 p.R1238H 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 245 0 0 111 27 19.5652 TIAL1 0 genome.wustl.edu 37 10 121339500 121339500 + Missense_Mutation SNP T T C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 10 121339500 121339500 T C SNP TIAL1 ENST00000369093 human ensembl 74_37 -1 known missense c.445 p.M149V 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIAL1 HGNC ENSG00000151923 129 0 0 82 15 15.4639 FGFR2 0 genome.wustl.edu 37 10 123274809 123274809 + Missense_Mutation SNP G G T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 10 123274809 123274809 G T SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known missense c.1112 p.T371K 0.008 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 179 0 0 110 24 17.9104 EIF3M 0 genome.wustl.edu 37 11 32610588 32610588 + Missense_Mutation SNP G G C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 11 32610588 32610588 G C SNP EIF3M ENST00000531120 human ensembl 74_37 +1 known missense c.345 p.K115N 1.000 superfamily_ARM-type_fold pfam_PCI_dom,superfamily_ARM-type_fold,smart_PCI_dom - no_errors EIF3M HGNC ENSG00000149100 165 0 0 51 13 20.3125 UBQLNL 0 genome.wustl.edu 37 11 5537612 5537612 + Silent SNP C C A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 11 5537612 5537612 C A SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative silent c.60 p.L20 0.001 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 213 0 0 89 34 27.6423 AMOTL1 0 genome.wustl.edu 37 11 94602566 94602566 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 11 94602566 94602566 C T SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known missense c.2692 p.R898W 0.845 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 20 0 0 13 4 23.5294 JRKL 0 genome.wustl.edu 37 11 96124155 96124155 + Silent SNP A A G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 11 96124155 96124155 A G SNP JRKL ENST00000332349 human ensembl 74_37 +1 known silent c.342 p.G114 0.901 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors JRKL HGNC ENSG00000183340 303 0 0 122 49 28.655 TMEM119 0 genome.wustl.edu 37 12 108985349 108985349 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 12 108985349 108985349 C T SNP TMEM119 ENST00000392806 human ensembl 74_37 -1 known missense c.811 p.E271K 0.001 NULL NULL - no_errors TMEM119 HGNC ENSG00000183160 278 0 0 157 30 16.0428 GOLGA3 0 genome.wustl.edu 37 12 133398686 133398686 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 12 133398686 133398686 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.29 p.G10D 0.012 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 123 0 0 54 16 22.8571 ARID2 0 genome.wustl.edu 37 12 46245192 46245192 + Nonsense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 12 46245192 46245192 C T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known nonsense c.3286 p.Q1096* 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 170 1 0.584795 93 27 22.5 ITGB7 0 genome.wustl.edu 37 12 53586645 53586645 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 12 53586645 53586645 C T SNP ITGB7 ENST00000267082 human ensembl 74_37 -1 known silent c.1776 p.T592 0.416 pirsf_Integrin_bsu,pfam_EGF_extracell 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 111 0 0 31 4 11.4286 MYF5 0 genome.wustl.edu 37 12 81111227 81111227 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 12 81111227 81111227 C T SNP MYF5 ENST00000228644 human ensembl 74_37 +1 known missense c.385 p.R129C 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF5 HGNC ENSG00000111049 280 1 0.355872 137 57 29.3814 UGGT2 0 genome.wustl.edu 37 13 96592282 96592282 + Nonsense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 13 96592282 96592282 G A SNP UGGT2 ENST00000376747 human ensembl 74_37 -1 known nonsense c.1741 p.Q581* 0.011 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 233 0 0 65 15 18.75 BNIP3P1 0 genome.wustl.edu 37 14 28734470 28734470 + RNA SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 14 28734470 28734470 G A SNP BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors BNIP3P1 HGNC ENSG00000197358 20 0 0 9 3 25 NPAS3 0 genome.wustl.edu 37 14 34270057 34270057 + Silent SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 14 34270057 34270057 G A SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known silent c.2544 p.A848 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 15 0 0 5 4 44.4444 PAX9 0 genome.wustl.edu 37 14 37132608 37132608 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 14 37132608 37132608 G A SNP PAX9 ENST00000361487 human ensembl 74_37 +1 known missense c.511 p.A171T 0.981 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 82 0 0 39 9 18.75 SERPINA1 0 genome.wustl.edu 37 14 94844974 94844974 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 14 94844974 94844974 C T SNP SERPINA1 ENST00000355814 human ensembl 74_37 -1 known missense c.1069 p.V357M 0.001 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA1 HGNC ENSG00000197249 73 0 0 27 5 15.625 HAPLN3 0 genome.wustl.edu 37 15 89424648 89424648 + Missense_Mutation SNP G G T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 15 89424648 89424648 G T SNP HAPLN3 ENST00000359595 human ensembl 74_37 -1 known missense c.433 p.R145S 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN3 HGNC ENSG00000140511 138 0 0 97 34 25.9542 SCNN1B 0 genome.wustl.edu 37 16 23382763 23382763 + Missense_Mutation SNP A A G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 16 23382763 23382763 A G SNP SCNN1B ENST00000307331 human ensembl 74_37 +1 known missense c.1159 p.T387A 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 76 0 0 28 4 12.5 CDH1 0 genome.wustl.edu 37 16 68842627 68842627 + Missense_Mutation SNP T T A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 16 68842627 68842627 T A SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.563 p.V188D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 97 0 0 33 18 35.2941 RBFOX1 0 genome.wustl.edu 37 16 7759122 7759122 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 16 7759122 7759122 G A SNP RBFOX1 ENST00000311745 human ensembl 74_37 +1 known missense c.1123 p.V375I 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 218 1 0.456621 97 29 23.0159 FAM27L 0 genome.wustl.edu 37 17 21826201 21826201 + RNA SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 17 21826201 21826201 C T SNP FAM27L ENST00000426869 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors FAM27L HGNC ENSG00000178130 145 0 0 58 15 20.5479 TNS4 0 genome.wustl.edu 37 17 38652436 38652436 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 17 38652436 38652436 G A SNP TNS4 ENST00000254051 human ensembl 74_37 -1 known missense c.242 p.P81L 0.000 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 223 0 0 112 34 23.2877 ATP6V0A1 0 genome.wustl.edu 37 17 40639324 40639324 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 17 40639324 40639324 C T SNP ATP6V0A1 ENST00000264649 human ensembl 74_37 +1 known missense c.983 p.A328V 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A1 HGNC ENSG00000033627 220 0 0 118 16 11.9403 HOXB2 0 genome.wustl.edu 37 17 46621062 46621062 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 17 46621062 46621062 G A SNP HOXB2 ENST00000330070 human ensembl 74_37 -1 known missense c.439 p.R147C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB2 HGNC ENSG00000173917 47 0 0 34 5 12.8205 KCNH6 0 genome.wustl.edu 37 17 61621612 61621612 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 17 61621612 61621612 G A SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.2344 p.A782T 0.166 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 72 0 0 46 12 20.6897 SEC14L1 0 genome.wustl.edu 37 17 75209548 75209548 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 17 75209548 75209548 C T SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known silent c.2016 p.T672 0.068 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 80 0 0 53 4 7.01754 RPTOR 0 genome.wustl.edu 37 17 78854264 78854264 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 17 78854264 78854264 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.1559 p.S520L 0.962 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 103 0 0 36 4 10 SMARCA4 0 genome.wustl.edu 37 19 11123694 11123694 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 19 11123694 11123694 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.2344 p.G782S 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 98 0 0 61 10 14.0845 PCSK4 0 genome.wustl.edu 37 19 1481952 1481952 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 19 1481952 1481952 G A SNP PCSK4 ENST00000300954 human ensembl 74_37 -1 known missense c.2074 p.R692C 0.003 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC ENSG00000115257 86 0 0 6 5 45.4545 MAST3 0 genome.wustl.edu 37 19 18218412 18218412 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 19 18218412 18218412 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.55 p.P19S 0.999 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 553 0 0 247 16 6.08365 MAST3 0 genome.wustl.edu 37 19 18255980 18255980 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 19 18255980 18255980 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.2893 p.R965W 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 197 1 0.505051 162 32 16.4948 HOMER3 0 genome.wustl.edu 37 19 19049214 19049214 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 19 19049214 19049214 C T SNP HOMER3 ENST00000392351 human ensembl 74_37 -1 known missense c.251 p.R84H 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER3 HGNC ENSG00000051128 268 0 0 108 51 32.0755 HDGFRP2 0 genome.wustl.edu 37 19 4499495 4499495 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 19 4499495 4499495 G A SNP HDGFRP2 ENST00000301284 human ensembl 74_37 +1 known missense c.1583 p.R528H 1.000 pfam_LEDGF pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFRP2 Uniprot_gn ENSG00000167674 33 0 0 11 9 45 IL4I1 0 genome.wustl.edu 37 19 50398344 50398344 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 19 50398344 50398344 G A SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known missense c.412 p.R138C 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 81 0 0 54 3 5.26316 TTN 0 genome.wustl.edu 37 2 179604668 179604668 + Missense_Mutation SNP T T G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 2 179604668 179604668 T G SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.12779 p.N4260T 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 231 0 0 122 34 21.7949 MPP4 0 genome.wustl.edu 37 2 202558645 202558645 + Silent SNP T T G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 2 202558645 202558645 T G SNP MPP4 ENST00000359962 human ensembl 74_37 -1 known silent c.33 p.P11 0.000 NULL pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP4 HGNC ENSG00000082126 844 1 0.118343 440 33 6.97674 ADAM23 0 genome.wustl.edu 37 2 207424813 207424813 + Missense_Mutation SNP G G T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 2 207424813 207424813 G T SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known missense c.1140 p.K380N 0.993 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 90 0 0 60 21 25.9259 MSL3P1 0 genome.wustl.edu 37 2 234775774 234775774 + RNA SNP T T C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 2 234775774 234775774 T C SNP MSL3P1 ENST00000438684 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors MSL3P1 HGNC ENSG00000224287 87 0 0 44 8 15.3846 ANO7 0 genome.wustl.edu 37 2 242141701 242141701 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 2 242141701 242141701 C T SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known silent c.867 p.A289 0.001 NULL pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 105 0 0 51 12 19.0476 GALM 0 genome.wustl.edu 37 2 38908455 38908455 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 2 38908455 38908455 G A SNP GALM ENST00000272252 human ensembl 74_37 +1 known missense c.379 p.V127I 0.923 pfam_Aldose_1/G6P_1-epimerase,superfamily_Gal_mutarotase_SF_dom pfam_Aldose_1/G6P_1-epimerase,superfamily_Gal_mutarotase_SF_dom - no_errors GALM HGNC ENSG00000143891 299 0 0 186 56 23.1405 KIAA1211L 0 genome.wustl.edu 37 2 99449454 99449454 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 2 99449454 99449454 C T SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known silent c.246 p.S82 0.178 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 255 0 0 155 28 15.3005 SLC24A3 0 genome.wustl.edu 37 20 19662610 19662610 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 20 19662610 19662610 C T SNP SLC24A3 ENST00000328041 human ensembl 74_37 +1 known silent c.876 p.D292 0.628 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 104 0 0 40 7 14.8936 TM9SF4 0 genome.wustl.edu 37 20 30742950 30742950 + Silent SNP A A G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 20 30742950 30742950 A G SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known silent c.1290 p.V430 0.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 174 0 0 108 11 9.2437 SLC4A11 0 genome.wustl.edu 37 20 3214843 3214843 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 20 3214843 3214843 G A SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.538 p.R180W 0.462 superfamily_PTrfase/Anion_transptr pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 208 1 0.478469 117 27 18.75 ACSS2 0 genome.wustl.edu 37 20 33508432 33508432 + Missense_Mutation SNP T T A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 20 33508432 33508432 T A SNP ACSS2 ENST00000253382 human ensembl 74_37 +1 known missense c.1102 p.C368S 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS2 HGNC ENSG00000131069 198 0 0 96 7 6.79612 ZBTB46 0 genome.wustl.edu 37 20 62421407 62421407 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 20 62421407 62421407 G A SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known missense c.704 p.P235L 1.000 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 86 0 0 44 15 25.4237 SON 0 genome.wustl.edu 37 21 34918579 34918579 + Silent SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 21 34918579 34918579 G A SNP SON ENST00000356577 human ensembl 74_37 +1 known silent c.138 p.A46 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 154 0 0 72 26 26.5306 SON 0 genome.wustl.edu 37 21 34924325 34924325 + Silent SNP T T C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 21 34924325 34924325 T C SNP SON ENST00000356577 human ensembl 74_37 +1 known silent c.2788 p.L930 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 111 0 0 54 3 5.26316 MX1 0 genome.wustl.edu 37 21 42824698 42824698 + Missense_Mutation SNP A A C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 21 42824698 42824698 A C SNP MX1 ENST00000398598 human ensembl 74_37 +1 known missense c.1660 p.K554Q 0.000 pfam_Dynamin_central,superfamily_P-loop_NTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX1 HGNC ENSG00000157601 591 0 0 306 113 26.969 MYH9 0 genome.wustl.edu 37 22 36685273 36685273 + Missense_Mutation SNP C C G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 22 36685273 36685273 C G SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.4415 p.R1472P 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 65 0 0 32 6 15.7895 SEC13 0 genome.wustl.edu 37 3 10354288 10354288 + Silent SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 3 10354288 10354288 G A SNP SEC13 ENST00000350697 human ensembl 74_37 -1 known silent c.291 p.H97 0.350 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC13 HGNC ENSG00000157020 200 0 0 103 41 28.4722 GALNT15 0 genome.wustl.edu 37 3 16217180 16217180 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 3 16217180 16217180 C T SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known silent c.522 p.P174 0.443 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 78 0 0 36 8 18.1818 NLGN1 0 genome.wustl.edu 37 3 173525589 173525589 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 3 173525589 173525589 G A SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.733 p.V245I 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 211 0 0 66 29 30.5263 PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 109 0 0 42 15 26.3158 CPNE9 0 genome.wustl.edu 37 3 9757165 9757165 + Missense_Mutation SNP C C A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 3 9757165 9757165 C A SNP CPNE9 ENST00000383832 human ensembl 74_37 +1 known missense c.777 p.N259K 1.000 superfamily_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE9 HGNC ENSG00000144550 95 0 0 87 9 9.375 BOD1L1 0 genome.wustl.edu 37 4 13602962 13602962 + Silent SNP A A G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 4 13602962 13602962 A G SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known silent c.5562 p.I1854 0.989 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 187 1 0.531915 136 8 5.55556 FGA 0 genome.wustl.edu 37 4 155507659 155507659 + Nonsense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 4 155507659 155507659 G A SNP FGA ENST00000302053 human ensembl 74_37 -1 known nonsense c.922 p.R308* 0.000 NULL pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 279 0 0 181 50 21.645 EVC2 0 genome.wustl.edu 37 4 5564606 5564606 + Missense_Mutation SNP T T A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 4 5564606 5564606 T A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.3896 p.K1299I 0.946 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 358 1 0.278552 154 41 21.0256 ADAMTS3 0 genome.wustl.edu 37 4 73175207 73175207 + Missense_Mutation SNP T T A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 4 73175207 73175207 T A SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.2086 p.N696Y 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 162 0 0 90 35 28 MCC 0 genome.wustl.edu 37 5 112406814 112406814 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 5 112406814 112406814 C T SNP MCC ENST00000302475 human ensembl 74_37 -1 known silent c.1332 p.A444 0.950 pfam_USH1C-bd_PDZ_domain pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 276 0 0 153 33 17.7419 RAB24 0 genome.wustl.edu 37 5 176730061 176730061 + Silent SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 5 176730061 176730061 G A SNP RAB24 ENST00000303251 human ensembl 74_37 -1 known silent c.135 p.F45 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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,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 RAB24 HGNC ENSG00000169228 83 0 0 55 6 9.83607 FLT4 0 genome.wustl.edu 37 5 180038423 180038423 + Missense_Mutation SNP G G C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 5 180038423 180038423 G C SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.3594 p.S1198R 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 214 0 0 100 39 28.0576 MAST4 0 genome.wustl.edu 37 5 66430465 66430465 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 5 66430465 66430465 G A SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.2350 p.V784M 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 415 0 0 172 41 19.2488 VCAN 0 genome.wustl.edu 37 5 82816386 82816386 + Missense_Mutation SNP C C A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 5 82816386 82816386 C A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.2261 p.T754K 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 128 1 0.775194 72 16 18.1818 GPR98 0 genome.wustl.edu 37 5 89923174 89923174 + Silent SNP T T C TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 5 89923174 89923174 T C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known silent c.819 p.P273 0.505 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 311 0 0 162 15 8.47458 RIOK2 0 genome.wustl.edu 37 5 96503524 96503524 + Silent SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 5 96503524 96503524 G A SNP RIOK2 ENST00000283109 human ensembl 74_37 -1 known silent c.1044 p.Y348 0.000 NULL pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase - no_errors RIOK2 HGNC ENSG00000058729 567 1 0.176056 384 66 14.6667 HIVEP1 0 genome.wustl.edu 37 6 12123037 12123037 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 6 12123037 12123037 C T SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known silent c.3009 p.P1003 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 420 1 0.23753 185 38 17.0404 CENPW 0 genome.wustl.edu 37 6 126661513 126661513 + Nonsense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 6 126661513 126661513 C T SNP CENPW ENST00000368325 human ensembl 74_37 +1 known nonsense c.94 p.Q32* 0.975 NULL NULL - no_errors CENPW HGNC ENSG00000203760 182 0 0 65 16 19.7531 PRRC2A 0 genome.wustl.edu 37 6 31600597 31600597 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 6 31600597 31600597 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.4147 p.R1383W 0.999 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 306 0 0 181 38 17.3516 RWDD2A 0 genome.wustl.edu 37 6 83905791 83905791 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 6 83905791 83905791 G A SNP RWDD2A ENST00000369724 human ensembl 74_37 +1 known missense c.679 p.V227M 0.000 pfam_DUF1115,pirsf_UCP038021_RWD pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2A HGNC ENSG00000013392 245 0 0 113 31 21.5278 TBX18 0 genome.wustl.edu 37 6 85446536 85446536 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 6 85446536 85446536 G A SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.1691 p.T564M 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 227 0 0 88 20 18.5185 TRPV6 0 genome.wustl.edu 37 7 142573294 142573294 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 7 142573294 142573294 C T SNP TRPV6 ENST00000359396 human ensembl 74_37 -1 known missense c.1049 p.R350H 1.000 prints_TRPV5/TRPV6,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 308 0 0 171 16 8.55615 FASTK 0 genome.wustl.edu 37 7 150775728 150775728 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 7 150775728 150775728 C T SNP FASTK ENST00000297532 human ensembl 74_37 -1 known missense c.746 p.R249Q 1.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 65 0 0 47 5 9.61538 ACTB 0 genome.wustl.edu 37 7 5568970 5568970 + Missense_Mutation SNP C C G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 7 5568970 5568970 C G SNP ACTB ENST00000331789 human ensembl 74_37 -1 known missense c.185 p.R62T 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTB HGNC ENSG00000075624 202 0 0 131 30 18.6335 HGF 0 genome.wustl.edu 37 7 81381520 81381520 + Nonsense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 7 81381520 81381520 G A SNP HGF ENST00000222390 human ensembl 74_37 -1 known nonsense c.541 p.R181* 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 162 0 0 97 14 12.6126 KIAA1324L 0 genome.wustl.edu 37 7 86526893 86526893 + Missense_Mutation SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 7 86526893 86526893 C T SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.2614 p.A872T 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 96 0 0 105 13 11.0169 SOX7 0 genome.wustl.edu 37 8 10583557 10583557 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 8 10583557 10583557 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known silent c.1014 p.P338 0.003 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 232 0 0 40 9 18.3673 DLC1 0 genome.wustl.edu 37 8 13259102 13259102 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 8 13259102 13259102 C T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.1050 p.A350 0.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 207 0 0 104 18 14.7541 TACC1 0 genome.wustl.edu 37 8 38693782 38693782 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 8 38693782 38693782 G A SNP TACC1 ENST00000379931 human ensembl 74_37 +1 known missense c.1852 p.V618M 0.998 pfam_TACC pfam_TACC - no_errors TACC1 HGNC ENSG00000147526 131 0 0 79 12 13.1868 CHRNB3 0 genome.wustl.edu 37 8 42586889 42586889 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 8 42586889 42586889 G A SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known missense c.439 p.A147T 0.994 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 65 0 0 36 14 28 MCM4 0 genome.wustl.edu 37 8 48874864 48874864 + Splice_Site SNP G G T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 8 48874864 48874864 G T SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known splice_site c.400-1 e4-1 1.000 - - - no_errors MCM4 HGNC ENSG00000104738 118 0 0 64 6 8.57143 MCPH1 0 genome.wustl.edu 37 8 6500543 6500543 + Silent SNP C C T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 8 6500543 6500543 C T SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known silent c.2481 p.A827 0.365 superfamily_BRCT_dom,pfscan_BRCT_dom pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 67 0 0 44 3 6.38298 NUP214 0 genome.wustl.edu 37 9 134049567 134049567 + Missense_Mutation SNP G G A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 9 134049567 134049567 G A SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.3022 p.E1008K 0.975 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 296 0 0 147 24 14.0351 XPNPEP2 0 genome.wustl.edu 37 X 128878049 128878049 + Splice_Site SNP T T G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 X 128878049 128878049 T G SNP XPNPEP2 ENST00000371106 human ensembl 74_37 +1 known splice_site c.234+2 e3+2 0.999 - - - no_errors XPNPEP2 HGNC ENSG00000122121 225 0 0 147 36 19.6721 G6PD 0 genome.wustl.edu 37 X 153763395 153763395 + Missense_Mutation SNP C C A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 X 153763395 153763395 C A SNP G6PD ENST00000369620 human ensembl 74_37 -1 known missense c.473 p.C158F 1.000 pfam_G6P_DH_NAD-bd,pirsf_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH - no_errors G6PD HGNC ENSG00000160211 310 0 0 119 27 18.4932 TMLHE 0 genome.wustl.edu 37 X 154736649 154736649 + Missense_Mutation SNP A A G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 X 154736649 154736649 A G SNP TMLHE ENST00000334398 human ensembl 74_37 -1 known missense c.905 p.I302T 1.000 pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase - no_errors TMLHE HGNC ENSG00000185973 400 0 0 179 54 23.176 DMD 0 genome.wustl.edu 37 X 31854892 31854892 + Missense_Mutation SNP C C A TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 X 31854892 31854892 C A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.7143 p.E2381D 0.999 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 279 0 0 153 28 15.4696 CYSLTR1 0 genome.wustl.edu 37 X 77529189 77529189 + Missense_Mutation SNP C C G TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 X 77529189 77529189 C G SNP CYSLTR1 ENST00000373304 human ensembl 74_37 -1 known missense c.55 p.D19H 1.000 prints_Cyst_leuk_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors CYSLTR1 HGNC ENSG00000173198 305 0 0 109 25 18.6567 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 93 0 0 71 7 8.97436 BAG3 0 genome.wustl.edu 37 10 121431795 121431796 + In_Frame_Ins INS - - CTCATC TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 10 121431795 121431796 - CTCATC INS BAG3 ENST00000369085 human ensembl 74_37 +1 known in_frame_ins c.536_537 p.183in_frame_insSS 0.997:0.998 NULL pfam_BAG_domain,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_BAG_domain,pfscan_BAG_domain,pfscan_WW_dom - no_errors BAG3 HGNC ENSG00000151929 126 0 0 80 11 12.0879 ARID2 0 genome.wustl.edu 37 12 46246525 46246528 + Frame_Shift_Del DEL CAAT CAAT - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 CAAT CAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 12 46246525 46246528 CAAT - DEL ARID2 ENST00000334344 human ensembl 74_37 +1 known frame_shift_del c.4619_4622 p.I1541fs 1.000:1.000:1.000:1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 127 0 0 60 24 28.5714 CHD4 0 genome.wustl.edu 37 12 6680117 6680118 + Frame_Shift_Del DEL GG GG - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 12 6680117 6680118 GG - DEL CHD4 ENST00000309577 human ensembl 74_37 -1 known frame_shift_del c.5723_5722 p.P1908fs 1.000:1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 795 0 0 381 86 18.4154 THSD1 0 genome.wustl.edu 37 13 52971746 52971747 + Frame_Shift_Del DEL AT AT - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 13 52971746 52971747 AT - DEL THSD1 ENST00000258613 human ensembl 74_37 -1 known frame_shift_del c.642_641 p.Y214fs 0.981:0.984 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 127 0 0 66 18 21.4286 RHPN2 0 genome.wustl.edu 37 19 33486993 33486994 + Frame_Shift_Del DEL CG CG - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 CG CG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 19 33486993 33486994 CG - DEL RHPN2 ENST00000254260 human ensembl 74_37 -1 known frame_shift_del c.1359_1358 p.T453fs 0.993:1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 153 0 0 100 18 15.2542 EIF2AK3 0 genome.wustl.edu 37 2 88890489 88890489 + Frame_Shift_Del DEL A A - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 2 88890489 88890489 A - DEL EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known frame_shift_del c.849 p.F283fs 0.984 superfamily_Quinonprotein_ADH-like_supfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 256 0 0 163 30 15.544 UPK1B 0 genome.wustl.edu 37 3 118917988 118917991 + Splice_Site DEL GTGA GTGA - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 GTGA GTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 3 118917988 118917991 GTGA - DEL UPK1B ENST00000264234 human ensembl 74_37 +1 known splice_site_del c.732+1_732+1 e6+1 0.999:1.000:1.000:1.000 - - - no_errors UPK1B HGNC ENSG00000114638 91 0 0 65 5 7.14286 ATXN7L1 0 genome.wustl.edu 37 7 105254802 105254804 + In_Frame_Del DEL GAG GAG - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 7 105254802 105254804 GAG - DEL ATXN7L1 ENST00000419735 human ensembl 74_37 -1 known in_frame_del c.1979_1977 p.S661in_frame_del 0.098:0.098:0.097 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ENSG00000146776 13 0 0 4 2 33.3333 ZDHHC4 0 genome.wustl.edu 37 7 6621848 6621849 + Frame_Shift_Ins INS - - T TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 7 6621848 6621849 - T INS ZDHHC4 ENST00000335965 human ensembl 74_37 +1 known frame_shift_ins c.336_337 p.T115fs 0.935:0.001 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC4 HGNC ENSG00000136247 407 0 0 362 20 5.2356 AFF2 0 genome.wustl.edu 37 X 148062319 148062322 + Frame_Shift_Del DEL AAGT AAGT - TCGA-CG-4474-01A-02D-1158-08 TCGA-CG-4474-10A-01D-1158-08 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76ca314e-8af8-4dd2-a136-9df8e9bd052d 4db705ef-e1e4-4403-8ba3-e8bed2fe3e22 X 148062319 148062322 AAGT - DEL AFF2 ENST00000370460 human ensembl 74_37 +1 known frame_shift_del c.3622_3623 p.K1208fs 1.000:1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 218 0 0 90 15 14.2857