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 DENND2C 0 genome.wustl.edu 37 1 115168270 115168270 + Silent SNP T T G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 115168270 115168270 T G SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known silent c.336 p.S112 0.013 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 84 0 0 24 16 40 PRDM2 0 genome.wustl.edu 37 1 14057566 14057566 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 14057566 14057566 G A SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known silent c.81 p.P27 0.001 pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 119 1 0.833333 101 43 29.8611 HFE2 0 genome.wustl.edu 37 1 145415460 145415460 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 145415460 145415460 C T SNP HFE2 ENST00000336751 human ensembl 74_37 +1 known silent c.279 p.T93 0.031 pfam_RGM_N pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 89 0 0 51 47 47.9592 FLG 0 genome.wustl.edu 37 1 152282081 152282081 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 152282081 152282081 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.5281 p.R1761C 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 311 0 0 240 107 30.8357 ASH1L 0 genome.wustl.edu 37 1 155307502 155307502 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 155307502 155307502 C T SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known silent c.8859 p.R2953 0.997 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 151 0 0 116 30 20.5479 IQGAP3 0 genome.wustl.edu 37 1 156521536 156521536 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 156521536 156521536 G A SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known silent c.1695 p.Y565 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 44 0 0 17 24 58.5366 HAPLN2 0 genome.wustl.edu 37 1 156593630 156593630 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 156593630 156593630 C T SNP HAPLN2 ENST00000255039 human ensembl 74_37 +1 known silent c.117 p.P39 1.000 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 HAPLN2 HGNC ENSG00000132702 20 0 0 14 7 33.3333 NES 0 genome.wustl.edu 37 1 156646946 156646946 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 156646946 156646946 G A SNP NES ENST00000368223 human ensembl 74_37 -1 known silent c.111 p.S37 0.014 pfam_IF pfam_IF - no_errors NES HGNC ENSG00000132688 15 0 0 15 10 40 ETV3L 0 genome.wustl.edu 37 1 157069094 157069094 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 157069094 157069094 G A SNP ETV3L ENST00000454449 human ensembl 74_37 -1 known silent c.135 p.I45 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV3L HGNC ENSG00000253831 62 0 0 21 30 58.8235 OR6Y1 0 genome.wustl.edu 37 1 158517014 158517014 + Missense_Mutation SNP A A C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 158517014 158517014 A C SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.882 p.I294M 0.981 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 150 0 0 92 27 22.6891 OR6K3 0 genome.wustl.edu 37 1 158687639 158687639 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 158687639 158687639 C A SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known missense c.315 p.K105N 0.449 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 199 1 0.5 67 105 61.0465 CD247 0 genome.wustl.edu 37 1 167400933 167400933 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 167400933 167400933 G A SNP CD247 ENST00000362089 human ensembl 74_37 -1 known silent c.480 p.A160 0.738 NULL pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD247 HGNC ENSG00000198821 147 0 0 119 23 16.1972 ESPNP 0 genome.wustl.edu 37 1 17030454 17030454 + RNA SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 17030454 17030454 G A SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 0.718 - - - no_errors ESPNP HGNC ENSG00000268869 238 0 0 273 26 8.69565 TNN 0 genome.wustl.edu 37 1 175086196 175086196 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 175086196 175086196 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known silent c.2241 p.D747 0.030 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 123 0 0 64 53 45.2991 FAM20B 0 genome.wustl.edu 37 1 179019498 179019498 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 179019498 179019498 C T SNP FAM20B ENST00000263733 human ensembl 74_37 +1 known silent c.462 p.D154 1.000 NULL pfam_DUF1193 - no_errors FAM20B HGNC ENSG00000116199 125 0 0 53 74 58.2677 ASPM 0 genome.wustl.edu 37 1 197093437 197093437 + Nonsense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 197093437 197093437 G A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known nonsense c.3193 p.Q1065* 0.943 superfamily_CH-domain,superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 25 0 0 10 5 33.3333 KIF21B 0 genome.wustl.edu 37 1 200956132 200956132 + Silent SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 200956132 200956132 G T SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known silent c.3606 p.G1202 0.994 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 107 0 0 78 34 30.3571 PPP1R12B 0 genome.wustl.edu 37 1 202318221 202318221 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 202318221 202318221 G T SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known missense c.242 p.G81V 0.996 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 34 0 0 28 10 26.3158 FAM71A 0 genome.wustl.edu 37 1 212799147 212799147 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 212799147 212799147 G A SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known missense c.928 p.A310T 0.000 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 27 0 0 30 5 14.2857 GPATCH2 0 genome.wustl.edu 37 1 217671689 217671689 + RNA SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 217671689 217671689 G A SNP GPATCH2 ENST00000485274 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GPATCH2 HGNC ENSG00000092978 305 0 0 136 115 45.8167 SUSD4 0 genome.wustl.edu 37 1 223396725 223396725 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 223396725 223396725 G T SNP SUSD4 ENST00000343846 human ensembl 74_37 -1 known missense c.1310 p.S437Y 0.934 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 62 0 0 36 15 29.4118 ZP4 0 genome.wustl.edu 37 1 238048755 238048755 + Nonsense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 238048755 238048755 G A SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known nonsense c.1096 p.Q366* 0.557 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 77 0 0 67 22 24.7191 FMN2 0 genome.wustl.edu 37 1 240256749 240256749 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 240256749 240256749 C T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.1340 p.P447L 0.094 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 94 0 0 59 16 21.3333 CEP170 0 genome.wustl.edu 37 1 243385112 243385112 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 243385112 243385112 G A SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known missense c.109 p.R37C 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 35 0 0 16 8 33.3333 OR2C3 0 genome.wustl.edu 37 1 247695102 247695102 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 247695102 247695102 C A SNP OR2C3 ENST00000366487 human ensembl 74_37 -1 known missense c.712 p.A238S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C3 HGNC ENSG00000196242 127 1 0.78125 102 20 16.3934 OR2T6 0 genome.wustl.edu 37 1 248551279 248551279 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 248551279 248551279 G A SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known missense c.370 p.V124M 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 102 0 0 59 37 38.5417 OR2G6 0 genome.wustl.edu 37 1 248685675 248685675 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 248685675 248685675 C A SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.728 p.S243Y 0.972 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 91 0 0 24 44 64.7059 CLIC4 0 genome.wustl.edu 37 1 25167282 25167282 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 25167282 25167282 C T SNP CLIC4 ENST00000374379 human ensembl 74_37 +1 known missense c.616 p.R206C 1.000 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC4 HGNC ENSG00000169504 134 0 0 69 46 40 PHACTR4 0 genome.wustl.edu 37 1 28800582 28800582 + Missense_Mutation SNP A A T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 28800582 28800582 A T SNP PHACTR4 ENST00000373836 human ensembl 74_37 +1 known missense c.1370 p.E457V 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 122 0 0 97 53 35.3333 SRSF4 0 genome.wustl.edu 37 1 29481422 29481422 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 29481422 29481422 C T SNP SRSF4 ENST00000373795 human ensembl 74_37 -1 known missense c.364 p.D122N 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF4 HGNC ENSG00000116350 49 0 0 18 27 60 GRIK3 0 genome.wustl.edu 37 1 37291214 37291214 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 37291214 37291214 C A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.1744 p.V582F 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 27 0 0 26 9 25.7143 MTF1 0 genome.wustl.edu 37 1 38289411 38289411 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 38289411 38289411 G A SNP MTF1 ENST00000373036 human ensembl 74_37 -1 known missense c.1142 p.T381M 0.020 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC ENSG00000188786 89 0 0 48 16 25 TIE1 0 genome.wustl.edu 37 1 43770806 43770806 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 43770806 43770806 C T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.343 p.R115C 0.041 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 36 0 0 21 13 38.2353 ELAVL4 0 genome.wustl.edu 37 1 50610646 50610646 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 50610646 50610646 G T SNP ELAVL4 ENST00000371821 human ensembl 74_37 +1 known missense c.42 p.E14D 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000162374 35 0 0 30 10 25 ELAVL4 0 genome.wustl.edu 37 1 50642827 50642827 + Missense_Mutation SNP C C G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 50642827 50642827 C G SNP ELAVL4 ENST00000371821 human ensembl 74_37 +1 known missense c.332 p.T111S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000162374 77 0 0 36 28 43.75 NPHP4 0 genome.wustl.edu 37 1 5925294 5925294 + Silent SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 5925294 5925294 G T SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known silent c.3684 p.V1228 0.790 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 15 0 0 17 5 22.7273 DOCK7 0 genome.wustl.edu 37 1 62941002 62941002 + Missense_Mutation SNP T T G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 62941002 62941002 T G SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.5949 p.E1983D 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 103 0 0 76 10 11.6279 DNAJC6 0 genome.wustl.edu 37 1 65730534 65730534 + RNA SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 65730534 65730534 C T SNP DNAJC6 ENST00000483402 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNAJC6 HGNC ENSG00000116675 19 0 0 24 2 7.69231 C1orf173 0 genome.wustl.edu 37 1 75097440 75097440 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 75097440 75097440 C T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.776 p.R259H 0.999 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 111 0 0 49 10 16.9492 CPN1 0 genome.wustl.edu 37 10 101825124 101825124 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 101825124 101825124 C T SNP CPN1 ENST00000370418 human ensembl 74_37 -1 known missense c.580 p.E194K 1.000 pfam_Peptidase_M14,pfam_DUF2817,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 58 0 0 18 10 35.7143 SORCS1 0 genome.wustl.edu 37 10 108389086 108389086 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 108389086 108389086 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.2536 p.V846I 0.990 pfam_PKD_dom,superfamily_PKD_dom,pfscan_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 62 0 0 41 13 24.0741 HSPA12A 0 genome.wustl.edu 37 10 118434850 118434850 + Silent SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 118434850 118434850 C A SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known silent c.1470 p.L490 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 24 0 0 20 7 25.9259 TACC2 0 genome.wustl.edu 37 10 123844926 123844926 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 123844926 123844926 G T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.2911 p.D971Y 0.002 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 98 0 0 41 56 57.732 DMBT1 0 genome.wustl.edu 37 10 124339248 124339248 + Silent SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 124339248 124339248 C A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known silent c.834 p.G278 0.004 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 394 0 0 275 88 24.2424 EBF3 0 genome.wustl.edu 37 10 131671794 131671794 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 131671794 131671794 G A SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.703 p.H235Y 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 51 0 0 27 23 46 TTC40 0 genome.wustl.edu 37 10 134755211 134755211 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 134755211 134755211 C T SNP TTC40 ENST00000368582 human ensembl 74_37 -1 known missense c.190 p.V64M 0.001 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 54 0 0 31 17 35.4167 NEBL 0 genome.wustl.edu 37 10 21104554 21104554 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 21104554 21104554 C T SNP NEBL ENST00000377122 human ensembl 74_37 -1 known silent c.2241 p.S747 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 71 0 0 16 19 54.2857 ABI1 0 genome.wustl.edu 37 10 27057879 27057879 + Silent SNP T T C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 27057879 27057879 T C SNP ABI1 ENST00000355394 human ensembl 74_37 -1 known silent c.624 p.P208 1.000 NULL pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI1 HGNC ENSG00000136754 225 1 0.442478 45 100 68.9655 KIF5B 0 genome.wustl.edu 37 10 32326272 32326272 + Missense_Mutation SNP T T C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 32326272 32326272 T C SNP KIF5B ENST00000302418 human ensembl 74_37 -1 known missense c.621 p.I207M 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_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 KIF5B HGNC ENSG00000170759 59 0 0 40 3 6.97674 TMEM72 0 genome.wustl.edu 37 10 45427458 45427458 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 45427458 45427458 C T SNP TMEM72 ENST00000389583 human ensembl 74_37 +1 novel silent c.150 p.A50 0.023 NULL NULL - no_errors TMEM72 HGNC ENSG00000187783 20 0 0 24 3 11.1111 CHAT 0 genome.wustl.edu 37 10 50854647 50854647 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 50854647 50854647 G T SNP CHAT ENST00000337653 human ensembl 74_37 +1 known missense c.1208 p.R403M 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 63 0 0 48 17 26.1538 ZNF365 0 genome.wustl.edu 37 10 64415217 64415217 + Missense_Mutation SNP A A C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 64415217 64415217 A C SNP ZNF365 ENST00000395251 human ensembl 74_37 +1 known missense c.217 p.T73P 0.194 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 75 0 0 25 21 45.6522 LRRTM3 0 genome.wustl.edu 37 10 68687350 68687350 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 68687350 68687350 C A SNP LRRTM3 ENST00000361320 human ensembl 74_37 +1 known missense c.676 p.P226T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 106 0 0 41 27 39.7059 CNTN5 0 genome.wustl.edu 37 11 100221534 100221534 + Missense_Mutation SNP A A C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 11 100221534 100221534 A C SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.3132 p.E1044D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN5 HGNC ENSG00000149972 96 0 0 15 61 80.2632 UBE4A 0 genome.wustl.edu 37 11 118253350 118253350 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 11 118253350 118253350 G A SNP UBE4A ENST00000431736 human ensembl 74_37 +1 known missense c.2077 p.A693T 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 285 0 0 43 199 82.2314 ARCN1 0 genome.wustl.edu 37 11 118454629 118454629 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 11 118454629 118454629 G A SNP ARCN1 ENST00000264028 human ensembl 74_37 +1 known missense c.553 p.G185R 1.000 NULL pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 101 0 0 18 70 79.5455 OR8B3 0 genome.wustl.edu 37 11 124267190 124267190 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 11 124267190 124267190 G T SNP OR8B3 ENST00000354597 human ensembl 74_37 -1 known missense c.58 p.H20N 0.004 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B3 HGNC ENSG00000196661 65 0 0 10 97 90.6542 MUC5B 0 genome.wustl.edu 37 11 1272662 1272662 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 11 1272662 1272662 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.14561 p.P4854L 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 148 0 0 121 33 21.4286 APLP2 0 genome.wustl.edu 37 11 130011402 130011402 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 11 130011402 130011402 G A SNP APLP2 ENST00000263574 human ensembl 74_37 +1 known missense c.1969 p.E657K 1.000 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ENSG00000084234 74 0 0 13 45 77.5862 OR4C13 0 genome.wustl.edu 37 11 49974600 49974600 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 11 49974600 49974600 G T SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known missense c.626 p.C209F 0.026 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 143 0 0 62 53 46.087 OR52H1 0 genome.wustl.edu 37 11 5566174 5566174 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 11 5566174 5566174 G T SNP OR52H1 ENST00000322653 human ensembl 74_37 -1 known missense c.580 p.Q194K 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52H1 HGNC ENSG00000181616 91 0 0 67 20 22.9885 OR56A1 0 genome.wustl.edu 37 11 6048513 6048513 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 11 6048513 6048513 G A SNP OR56A1 ENST00000316650 human ensembl 74_37 -1 known missense c.422 p.S141F 0.988 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 116 0 0 62 19 23.4568 DDB1 0 genome.wustl.edu 37 11 61081144 61081144 + Silent SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 11 61081144 61081144 G T SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known silent c.1896 p.G632 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 15 0 0 13 5 27.7778 BEST1 0 genome.wustl.edu 37 11 61729788 61729788 + Missense_Mutation SNP G G C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 11 61729788 61729788 G C SNP BEST1 ENST00000449131 human ensembl 74_37 +1 known missense c.982 p.G328R 0.992 NULL pfam_Bestrophin/UPF0187 - no_errors BEST1 HGNC ENSG00000167995 62 0 0 51 15 22.7273 PCNXL3 0 genome.wustl.edu 37 11 65402868 65402868 + Missense_Mutation SNP G G C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 11 65402868 65402868 G C SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.5133 p.E1711D 1.000 pfam_Pecanex pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 28 0 0 17 5 22.7273 EPS8L2 0 genome.wustl.edu 37 11 709560 709560 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 11 709560 709560 C T SNP EPS8L2 ENST00000318562 human ensembl 74_37 +1 known silent c.52 p.L18 1.000 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 35 0 0 7 26 78.7879 FAM181B 0 genome.wustl.edu 37 11 82444664 82444664 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 11 82444664 82444664 G A SNP FAM181B ENST00000329203 human ensembl 74_37 -1 known silent c.108 p.C36 1.000 NULL NULL - no_errors FAM181B HGNC ENSG00000182103 13 0 0 4 6 60 DHX37 0 genome.wustl.edu 37 12 125453471 125453471 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 12 125453471 125453471 C A SNP DHX37 ENST00000308736 human ensembl 74_37 -1 known missense c.1235 p.R412L 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 37 0 0 10 2 16.6667 KIF21A 0 genome.wustl.edu 37 12 39735371 39735371 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 12 39735371 39735371 C T SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known silent c.1857 p.E619 0.988 superfamily_ARM-type_fold pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 50 0 0 39 8 17.0213 CLEC4E 0 genome.wustl.edu 37 12 8687405 8687405 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 12 8687405 8687405 G A SNP CLEC4E ENST00000299663 human ensembl 74_37 -1 known silent c.489 p.S163 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4E HGNC ENSG00000166523 52 0 0 32 9 21.9512 EPYC 0 genome.wustl.edu 37 12 91371944 91371944 + Missense_Mutation SNP T T A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 12 91371944 91371944 T A SNP EPYC ENST00000261172 human ensembl 74_37 -1 known missense c.261 p.E87D 0.988 NULL pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors EPYC HGNC ENSG00000083782 118 0 0 16 35 68.6275 BIVM 0 genome.wustl.edu 37 13 103492133 103492133 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 13 103492133 103492133 C T SNP BIVM ENST00000257336 human ensembl 74_37 +1 known missense c.1430 p.S477L 0.004 NULL NULL - no_errors BIVM HGNC ENSG00000134897 169 0 0 237 41 14.7482 IRS2 0 genome.wustl.edu 37 13 110436796 110436796 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 13 110436796 110436796 G A SNP IRS2 ENST00000375856 human ensembl 74_37 -1 known silent c.1605 p.G535 0.074 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 30 0 0 38 7 15.5556 SOX1 0 genome.wustl.edu 37 13 112722276 112722276 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 13 112722276 112722276 G A SNP SOX1 ENST00000330949 human ensembl 74_37 +1 known missense c.304 p.D102N 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX1 HGNC ENSG00000182968 39 0 0 45 15 25 RASA3 0 genome.wustl.edu 37 13 114781717 114781717 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 13 114781717 114781717 C T SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known missense c.1237 p.D413N 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 63 0 0 23 53 69.7368 SLC7A1 0 genome.wustl.edu 37 13 30110029 30110029 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 13 30110029 30110029 G A SNP SLC7A1 ENST00000380752 human ensembl 74_37 -1 known silent c.297 p.L99 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 55 0 0 62 9 12.6761 DCLK1 0 genome.wustl.edu 37 13 36699928 36699928 + Missense_Mutation SNP T T C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 13 36699928 36699928 T C SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.347 p.K116R 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 78 0 0 73 16 17.9775 ALG11 0 genome.wustl.edu 37 13 52598571 52598571 + Silent SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 13 52598571 52598571 C A SNP ALG11 ENST00000521508 human ensembl 74_37 +1 known silent c.705 p.I235 1.000 NULL pfam_Glyco_trans_1 - no_errors ALG11 HGNC ENSG00000253710 160 0 0 148 32 17.7778 EDNRB 0 genome.wustl.edu 37 13 78493633 78493633 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 13 78493633 78493633 C T SNP EDNRB ENST00000377211 human ensembl 74_37 -1 putative missense c.118 p.A40T 0.997 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 45 0 0 45 10 18.1818 DCT 0 genome.wustl.edu 37 13 95131262 95131262 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 13 95131262 95131262 C T SNP DCT ENST00000446125 human ensembl 74_37 -1 known missense c.248 p.R83H 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 109 0 0 95 45 32.1429 C14orf93 0 genome.wustl.edu 37 14 23468274 23468274 + RNA SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 14 23468274 23468274 G A SNP C14orf93 ENST00000554536 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C14orf93 HGNC ENSG00000100802 86 0 0 54 24 30.7692 CDH24 0 genome.wustl.edu 37 14 23519192 23519192 + RNA SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 14 23519192 23519192 C A SNP CDH24 ENST00000485922 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CDH24 HGNC ENSG00000139880 124 0 0 58 54 48.2143 NPAS3 0 genome.wustl.edu 37 14 34269090 34269090 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 14 34269090 34269090 G A SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.1577 p.R526H 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 53 0 0 21 12 36.3636 CFL2 0 genome.wustl.edu 37 14 35182762 35182762 + Silent SNP A A C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 14 35182762 35182762 A C SNP CFL2 ENST00000298159 human ensembl 74_37 -1 known silent c.9 p.S3 1.000 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors CFL2 HGNC ENSG00000165410 34 0 0 19 8 29.6296 POLE2 0 genome.wustl.edu 37 14 50154897 50154897 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 14 50154897 50154897 G A SNP POLE2 ENST00000216367 human ensembl 74_37 -1 known missense c.25 p.R9W 0.665 pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu - no_errors POLE2 HGNC ENSG00000100479 11 0 0 3 5 62.5 PYGL 0 genome.wustl.edu 37 14 51401876 51401876 + Nonsense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 14 51401876 51401876 C A SNP PYGL ENST00000216392 human ensembl 74_37 -1 known nonsense c.373 p.E125* 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGL HGNC ENSG00000100504 76 0 0 47 33 41.25 SLC38A6 0 genome.wustl.edu 37 14 61512843 61512843 + Missense_Mutation SNP A A G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 14 61512843 61512843 A G SNP SLC38A6 ENST00000354886 human ensembl 74_37 +1 known missense c.883 p.I295V 0.990 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A6 HGNC ENSG00000139974 32 0 0 15 17 53.125 NRXN3 0 genome.wustl.edu 37 14 79433625 79433625 + Missense_Mutation SNP A A G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 14 79433625 79433625 A G SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.2819 p.D940G 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 68 0 0 48 8 14.2857 RIN3 0 genome.wustl.edu 37 14 93118805 93118805 + Missense_Mutation SNP G G C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 14 93118805 93118805 G C SNP RIN3 ENST00000216487 human ensembl 74_37 +1 known missense c.1411 p.A471P 0.012 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 122 0 0 73 62 45.9259 SERPINA9 0 genome.wustl.edu 37 14 94933667 94933667 + Missense_Mutation SNP G G C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 14 94933667 94933667 G C SNP SERPINA9 ENST00000337425 human ensembl 74_37 -1 known missense c.735 p.F245L 0.080 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA9 HGNC ENSG00000170054 41 0 0 37 2 5.12821 NPAP1 0 genome.wustl.edu 37 15 24921694 24921694 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 15 24921694 24921694 C T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.680 p.A227V 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 49 0 0 18 20 52.6316 ATP10A 0 genome.wustl.edu 37 15 25925073 25925073 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 15 25925073 25925073 C A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.3915 p.Q1305H 0.997 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 ATP10A HGNC ENSG00000206190 109 0 0 46 47 50.5376 ZNF106 0 genome.wustl.edu 37 15 42742247 42742247 + Missense_Mutation SNP T T G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 15 42742247 42742247 T G SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.2154 p.E718D 0.946 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 95 0 0 46 38 45.2381 PPIP5K1 0 genome.wustl.edu 37 15 43826988 43826988 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 15 43826988 43826988 C T SNP PPIP5K1 ENST00000420765 human ensembl 74_37 -1 known missense c.4186 p.E1396K 0.310 NULL pfam_His_Pase_superF_clade-2,superfamily_Cys_alpha_HP_mot_SF - no_errors PPIP5K1 HGNC ENSG00000168781 106 0 0 47 52 52.5253 DUOX2 0 genome.wustl.edu 37 15 45386852 45386852 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 15 45386852 45386852 C T SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.4433 p.R1478Q 1.000 pfam_Fe_red_NAD-bd_6 pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 45 0 0 28 26 48.1481 UNC13C 0 genome.wustl.edu 37 15 54306946 54306946 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 15 54306946 54306946 C A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.1846 p.Q616K 0.339 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 109 0 0 92 20 17.8571 UNC13C 0 genome.wustl.edu 37 15 54307612 54307612 + Missense_Mutation SNP C C G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 15 54307612 54307612 C G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.2512 p.Q838E 0.991 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 56 0 0 38 7 15.5556 USP3 0 genome.wustl.edu 37 15 63866244 63866244 + Splice_Site SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 15 63866244 63866244 G A SNP USP3 ENST00000380324 human ensembl 74_37 +1 known splice_site c.909-1 e10-1 1.000 - - - no_errors USP3 HGNC ENSG00000140455 74 0 0 45 21 31.8182 SKOR1 0 genome.wustl.edu 37 15 68120229 68120229 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 15 68120229 68120229 G T SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known missense c.2063 p.G688V 0.677 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 14 0 0 10 5 33.3333 TBC1D21 0 genome.wustl.edu 37 15 74174028 74174028 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 15 74174028 74174028 C T SNP TBC1D21 ENST00000300504 human ensembl 74_37 +1 known missense c.212 p.T71M 0.983 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D21 HGNC ENSG00000167139 52 0 0 29 11 27.5 ISLR 0 genome.wustl.edu 37 15 74467329 74467329 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 15 74467329 74467329 G A SNP ISLR ENST00000249842 human ensembl 74_37 +1 known missense c.130 p.V44M 0.980 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ISLR HGNC ENSG00000129009 67 0 0 37 31 45.5882 ADAMTSL3 0 genome.wustl.edu 37 15 84582130 84582130 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 15 84582130 84582130 G A SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.1987 p.G663S 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 43 0 0 38 9 19.1489 ACAN 0 genome.wustl.edu 37 15 89392905 89392905 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 15 89392905 89392905 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.1969 p.P657S 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_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 ACAN HGNC ENSG00000157766 52 0 0 41 16 28.0702 CACNA1H 0 genome.wustl.edu 37 16 1259359 1259359 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 16 1259359 1259359 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.3691 p.R1231C 0.983 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 52 0 0 24 30 55.5556 FLYWCH1 0 genome.wustl.edu 37 16 2983164 2983164 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 16 2983164 2983164 G A SNP FLYWCH1 ENST00000399667 human ensembl 74_37 +1 known missense c.830 p.C277Y 0.041 pfam_Znf_FLYWCH pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 58 0 0 19 23 54.7619 ITGAL 0 genome.wustl.edu 37 16 30505559 30505559 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 16 30505559 30505559 C T SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.1240 p.R414W 0.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 133 0 0 93 48 34.0426 TRIM72 0 genome.wustl.edu 37 16 31230619 31230619 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 16 31230619 31230619 C T SNP TRIM72 ENST00000322122 human ensembl 74_37 +1 known missense c.496 p.R166C 0.636 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC ENSG00000177238 111 0 0 124 33 21.0191 ENSG00000224631 0 genome.wustl.edu 37 16 61089575 61089575 + RNA SNP T T C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 16 61089575 61089575 T C SNP ENSG00000224631 ENST00000591758 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-51O6.1 Clone_based_vega_gene ENSG00000224631 31 0 0 14 11 44 ZFHX3 0 genome.wustl.edu 37 16 72828910 72828910 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 16 72828910 72828910 C A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.7671 p.Q2557H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 95 0 0 72 25 25.7732 MYH13 0 genome.wustl.edu 37 17 10265478 10265478 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 10265478 10265478 G T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.462 p.H154Q 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 248 0 0 153 91 37.2951 MYH4 0 genome.wustl.edu 37 17 10366655 10366655 + Missense_Mutation SNP A A G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 10366655 10366655 A G SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.805 p.Y269H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,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 52 0 0 44 22 33.3333 MYH2 0 genome.wustl.edu 37 17 10426631 10426631 + Silent SNP A A C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 10426631 10426631 A C SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.5571 p.T1857 0.338 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 113 0 0 63 39 38.2353 RNF112 0 genome.wustl.edu 37 17 19318132 19318132 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 19318132 19318132 G A SNP RNF112 ENST00000461366 human ensembl 74_37 +1 novel missense c.1058 p.R353Q 0.680 NULL pfam_Guanylate-bd_N,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC ENSG00000128482 51 0 0 44 3 6.38298 HIC1 0 genome.wustl.edu 37 17 1961548 1961548 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 1961548 1961548 G A SNP HIC1 ENST00000322941 human ensembl 74_37 +1 known missense c.1621 p.G541R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 28 0 0 27 2 6.89655 ZZEF1 0 genome.wustl.edu 37 17 3937348 3937348 + Missense_Mutation SNP G G C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 3937348 3937348 G C SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.6545 p.T2182S 0.979 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 203 0 0 134 91 40.4444 ZZEF1 0 genome.wustl.edu 37 17 3954207 3954207 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 3954207 3954207 C T SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.5731 p.A1911T 0.943 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 62 0 0 56 32 36.3636 KIF2B 0 genome.wustl.edu 37 17 51901904 51901904 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 51901904 51901904 C T SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1510 p.R504W 0.971 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 57 0 0 24 21 46.6667 VPS53 0 genome.wustl.edu 37 17 559155 559155 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 559155 559155 G A SNP VPS53 ENST00000437048 human ensembl 74_37 -1 known silent c.411 p.H137 0.557 pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 67 0 0 52 13 20 INTS2 0 genome.wustl.edu 37 17 59949691 59949691 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 59949691 59949691 C T SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known missense c.2737 p.V913I 0.999 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 59 0 0 38 15 28.3019 METTL2A 0 genome.wustl.edu 37 17 60518011 60518011 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 60518011 60518011 G T SNP METTL2A ENST00000311506 human ensembl 74_37 +1 known missense c.703 p.A235S 1.000 pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase - no_errors METTL2A HGNC ENSG00000087995 92 0 0 60 21 25.9259 HELZ 0 genome.wustl.edu 37 17 65082948 65082948 + Missense_Mutation SNP T T A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 65082948 65082948 T A SNP HELZ ENST00000358691 human ensembl 74_37 -1 known missense c.5491 p.I1831L 1.000 NULL pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 129 0 0 83 33 28.4483 SLC39A11 0 genome.wustl.edu 37 17 70732815 70732815 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 70732815 70732815 C T SNP SLC39A11 ENST00000542342 human ensembl 74_37 -1 known silent c.666 p.T222 0.766 pfam_ZIP pfam_ZIP - no_errors SLC39A11 HGNC ENSG00000133195 112 0 0 47 51 52.0408 DNAI2 0 genome.wustl.edu 37 17 72308221 72308221 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 72308221 72308221 C T SNP DNAI2 ENST00000311014 human ensembl 74_37 +1 known missense c.1574 p.A525V 0.441 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 46 0 0 27 21 43.75 ATP1B2 0 genome.wustl.edu 37 17 7554931 7554931 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 7554931 7554931 G A SNP ATP1B2 ENST00000250111 human ensembl 74_37 +1 known missense c.95 p.R32H 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B2 HGNC ENSG00000129244 16 0 0 5 5 50 TP53 0 genome.wustl.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 7578403 7578403 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.527 p.C176F 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 75 0 0 14 32 69.5652 DNAH17 0 genome.wustl.edu 37 17 76475574 76475574 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 76475574 76475574 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.7851 p.A2617 0.002 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 40 0 0 29 9 23.6842 SLC25A10 0 genome.wustl.edu 37 17 79683076 79683076 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 79683076 79683076 C T SNP SLC25A10 ENST00000541223 human ensembl 74_37 +1 known missense c.880 p.R294C 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A10 HGNC ENSG00000183048 11 0 0 9 3 25 MYH10 0 genome.wustl.edu 37 17 8383470 8383470 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 8383470 8383470 G A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.5525 p.A1842V 1.000 pfam_Myosin_tail,superfamily_HR1_rho-bd pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 110 0 0 106 28 20.8955 PIK3R5 0 genome.wustl.edu 37 17 8814786 8814786 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 8814786 8814786 G A SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known missense c.26 p.T9M 0.998 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 75 0 0 51 30 37.037 GLP2R 0 genome.wustl.edu 37 17 9764495 9764495 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 17 9764495 9764495 G A SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known missense c.965 p.R322H 0.049 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 169 0 0 116 83 41.7085 DSG3 0 genome.wustl.edu 37 18 29037082 29037082 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 18 29037082 29037082 G T SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.211 p.A71S 1.000 pfam_Cadherin,smart_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 58 0 0 37 13 26 NOL4 0 genome.wustl.edu 37 18 31709844 31709844 + Silent SNP A A G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 18 31709844 31709844 A G SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known silent c.405 p.T135 0.996 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 63 0 0 11 26 70.2703 FHOD3 0 genome.wustl.edu 37 18 34205579 34205579 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 18 34205579 34205579 C T SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.1063 p.R355W 0.858 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 64 0 0 15 35 70 SMAD4 0 genome.wustl.edu 37 18 48591904 48591904 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 18 48591904 48591904 C T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1067 p.P356L 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 95 0 0 10 18 64.2857 RAX 0 genome.wustl.edu 37 18 56939701 56939701 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 18 56939701 56939701 C T SNP RAX ENST00000334889 human ensembl 74_37 -1 known silent c.435 p.T145 0.469 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors RAX HGNC ENSG00000134438 147 0 0 32 29 47.541 RBFA 0 genome.wustl.edu 37 18 77805864 77805864 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 18 77805864 77805864 G T SNP RBFA ENST00000306735 human ensembl 74_37 +1 known missense c.741 p.Q247H 0.846 NULL pfam_Ribosome-bd_facA,superfamily_Ribosome-bd_facA_dom - no_errors RBFA HGNC ENSG00000101546 91 0 0 15 23 60.5263 RDH8 0 genome.wustl.edu 37 19 10132297 10132297 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 10132297 10132297 G A SNP RDH8 ENST00000591589 human ensembl 74_37 +1 known missense c.868 p.V290M 0.928 pirsf_17beta_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH8 HGNC ENSG00000080511 98 0 0 63 37 37 NWD1 0 genome.wustl.edu 37 19 16860348 16860348 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 16860348 16860348 C T SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.895 p.R299C 0.916 superfamily_P-loop_NTPase pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 46 0 0 31 8 20.5128 ATP8B3 0 genome.wustl.edu 37 19 1802601 1802601 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 1802601 1802601 G A SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known silent c.948 p.F316 0.997 pfam_ATPase_P-typ_transduc_dom_A,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 ATP8B3 HGNC ENSG00000130270 33 0 0 16 13 44.8276 MEF2BNB-MEF2B 0 genome.wustl.edu 37 19 19261546 19261546 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 19261546 19261546 G A SNP MEF2BNB-MEF2B ENST00000514819 human ensembl 74_37 -1 putative missense c.50 p.T17M 0.017 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2BNB-MEF2B HGNC ENSG00000064489 80 0 0 56 20 26.3158 CILP2 0 genome.wustl.edu 37 19 19654586 19654586 + Missense_Mutation SNP A A G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 19654586 19654586 A G SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.1232 p.D411G 0.992 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 165 0 0 110 55 33.3333 ZNF90 0 genome.wustl.edu 37 19 20236018 20236018 + RNA SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 20236018 20236018 C A SNP ZNF90 ENST00000474284 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF90 HGNC ENSG00000213988 32 0 0 9 23 71.875 ZNF429 0 genome.wustl.edu 37 19 21719370 21719370 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 21719370 21719370 C A SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel missense c.515 p.P172H 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 ZNF429 HGNC ENSG00000197013 59 0 0 17 25 59.5238 ZNF729 0 genome.wustl.edu 37 19 22497344 22497344 + Silent SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 22497344 22497344 C A SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel silent c.1125 p.P375 0.270 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 80 0 0 40 7 14.8936 GNG7 0 genome.wustl.edu 37 19 2515067 2515067 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 2515067 2515067 C T SNP GNG7 ENST00000382159 human ensembl 74_37 -1 known missense c.160 p.A54T 0.998 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG7 HGNC ENSG00000176533 111 0 0 79 28 26.1682 TSHZ3 0 genome.wustl.edu 37 19 31769276 31769276 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 31769276 31769276 C T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.1423 p.D475N 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 208 1 0.478469 90 84 48.2759 ZNF781 0 genome.wustl.edu 37 19 38160615 38160615 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 38160615 38160615 C T SNP ZNF781 ENST00000358582 human ensembl 74_37 -1 known silent c.435 p.T145 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF781 HGNC ENSG00000196381 136 0 0 96 36 27.2727 PSG10P 0 genome.wustl.edu 37 19 43349256 43349256 + RNA SNP G G C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 43349256 43349256 G C SNP PSG10P ENST00000597171 human ensembl 74_37 -1 known rna NULL NULL 0.789 - - - no_errors PSG10P HGNC ENSG00000248257 283 0 0 116 131 53.0364 SMG9 0 genome.wustl.edu 37 19 44244320 44244320 + Missense_Mutation SNP T T A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 44244320 44244320 T A SNP SMG9 ENST00000270066 human ensembl 74_37 -1 known missense c.752 p.N251I 1.000 pfam_Smg8/Smg9,superfamily_P-loop_NTPase pfam_Smg8/Smg9,superfamily_P-loop_NTPase - no_errors SMG9 HGNC ENSG00000105771 161 1 0.617284 70 74 51.3889 FBXO46 0 genome.wustl.edu 37 19 46215975 46215975 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 46215975 46215975 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known missense c.779 p.R260H 1.000 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 38 0 0 33 9 21.4286 LIG1 0 genome.wustl.edu 37 19 48636295 48636295 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 48636295 48636295 G A SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known missense c.1669 p.R557C 1.000 pfam_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 277 0 0 192 70 26.7176 LMTK3 0 genome.wustl.edu 37 19 48994447 48994447 + Silent SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 48994447 48994447 C A SNP LMTK3 ENST00000270238 human ensembl 74_37 -1 known silent c.4371 p.P1457 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 48 0 0 29 5 14.7059 TEAD2 0 genome.wustl.edu 37 19 49854564 49854564 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 49854564 49854564 G T SNP TEAD2 ENST00000311227 human ensembl 74_37 -1 known missense c.586 p.L196I 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 21 0 0 14 6 30 SLC17A7 0 genome.wustl.edu 37 19 49936185 49936185 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 49936185 49936185 C T SNP SLC17A7 ENST00000221485 human ensembl 74_37 -1 known silent c.900 p.T300 0.996 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 16 0 0 5 5 50 ACPT 0 genome.wustl.edu 37 19 51293690 51293690 + Missense_Mutation SNP T T G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 51293690 51293690 T G SNP ACPT ENST00000270594 human ensembl 74_37 +1 known missense c.19 p.W7G 0.000 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 17 0 0 6 6 50 KDM4B 0 genome.wustl.edu 37 19 5131234 5131234 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 5131234 5131234 C T SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.1463 p.P488L 0.006 NULL 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 11 0 0 2 6 75 ZNF880 0 genome.wustl.edu 37 19 52887920 52887920 + Nonsense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 52887920 52887920 C T SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known nonsense c.1087 p.R363* 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 35 0 0 16 13 44.8276 KIR2DL4 0 genome.wustl.edu 37 19 55316320 55316320 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 55316320 55316320 G A SNP KIR2DL4 ENST00000396284 human ensembl 74_37 +1 known missense c.143 p.R48Q 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL4 HGNC ENSG00000189013 106 0 0 63 46 42.2018 PPP6R1 0 genome.wustl.edu 37 19 55750801 55750801 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 55750801 55750801 C T SNP PPP6R1 ENST00000412770 human ensembl 74_37 -1 known missense c.1723 p.E575K 1.000 superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 45 0 0 37 6 13.9535 ZFP28 0 genome.wustl.edu 37 19 57066450 57066450 + Missense_Mutation SNP T T A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 57066450 57066450 T A SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known missense c.2296 p.F766I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 84 0 0 60 23 27.7108 ZSCAN18 0 genome.wustl.edu 37 19 58596724 58596724 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 58596724 58596724 G A SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known silent c.1029 p.S343 0.001 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 16 0 0 8 8 50 DENND1C 0 genome.wustl.edu 37 19 6476976 6476976 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 6476976 6476976 C T SNP DENND1C ENST00000381480 human ensembl 74_37 -1 known silent c.570 p.R190 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 48 0 0 47 9 16.0714 STXBP2 0 genome.wustl.edu 37 19 7703623 7703623 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 7703623 7703623 G A SNP STXBP2 ENST00000221283 human ensembl 74_37 +1 known missense c.49 p.G17R 0.998 superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP2 HGNC ENSG00000076944 123 0 0 55 20 26.6667 LRRC8E 0 genome.wustl.edu 37 19 7963948 7963948 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 7963948 7963948 G A SNP LRRC8E ENST00000306708 human ensembl 74_37 +1 known missense c.541 p.E181K 0.038 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 59 0 0 32 17 34.6939 MUC16 0 genome.wustl.edu 37 19 9015369 9015369 + Missense_Mutation SNP T T A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 9015369 9015369 T A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38219 p.K12740M 0.000 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 200 0 0 92 39 29.771 OR7G1 0 genome.wustl.edu 37 19 9225581 9225581 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 9225581 9225581 G A SNP OR7G1 ENST00000293614 human ensembl 74_37 -1 known missense c.859 p.P287S 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC ENSG00000161807 96 0 0 63 19 23.1707 ZNF699 0 genome.wustl.edu 37 19 9407101 9407101 + Silent SNP T T G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 9407101 9407101 T G SNP ZNF699 ENST00000308650 human ensembl 74_37 -1 known silent c.979 p.R327 0.383 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF699 HGNC ENSG00000196110 113 0 0 50 58 53.7037 PQLC3 0 genome.wustl.edu 37 2 11300802 11300802 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 11300802 11300802 C T SNP PQLC3 ENST00000295083 human ensembl 74_37 +1 known missense c.278 p.A93V 0.893 pirsf_MannP-dilichol_defect-1 pirsf_MannP-dilichol_defect-1 - no_errors PQLC3 HGNC ENSG00000162976 123 0 0 54 50 48.0769 STEAP3 0 genome.wustl.edu 37 2 120005614 120005614 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 120005614 120005614 C T SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known silent c.882 p.R294 0.014 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 40 0 0 58 19 24.6753 SNTG2 0 genome.wustl.edu 37 2 1241788 1241788 + Missense_Mutation SNP A A G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 1241788 1241788 A G SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.848 p.N283S 0.899 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 22 0 0 11 5 31.25 CNTNAP5 0 genome.wustl.edu 37 2 125521594 125521594 + Silent SNP T T A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 125521594 125521594 T A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known silent c.2400 p.S800 0.992 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 66 0 0 42 34 44.7368 LRP1B 0 genome.wustl.edu 37 2 142888247 142888247 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 142888247 142888247 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.52 p.A18S 0.986 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 38 0 0 37 6 13.9535 LYPD6B 0 genome.wustl.edu 37 2 150064896 150064896 + Nonsense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 150064896 150064896 C T SNP LYPD6B ENST00000280115 human ensembl 74_37 +1 known nonsense c.298 p.R100* 0.972 NULL NULL - no_errors LYPD6B HGNC ENSG00000150556 113 0 0 102 7 6.42202 KCNH7 0 genome.wustl.edu 37 2 163374466 163374466 + Silent SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 163374466 163374466 G T SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known silent c.666 p.P222 0.979 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 119 0 0 65 19 22.619 TTN 0 genome.wustl.edu 37 2 179438077 179438077 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 179438077 179438077 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.65078 p.R21693Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 56 0 0 52 12 18.75 COL5A2 0 genome.wustl.edu 37 2 189899659 189899659 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 189899659 189899659 G T SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.4336 p.L1446I 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 78 0 0 69 14 16.8675 PLCL1 0 genome.wustl.edu 37 2 198953756 198953756 + Nonsense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 198953756 198953756 C T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known nonsense c.2890 p.Q964* 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 91 0 0 60 39 39.3939 MPP4 0 genome.wustl.edu 37 2 202519634 202519634 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 202519634 202519634 G A SNP MPP4 ENST00000359962 human ensembl 74_37 -1 known missense c.1307 p.S436F 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like 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 24 0 0 9 3 25 ADAM23 0 genome.wustl.edu 37 2 207459514 207459514 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 207459514 207459514 G T SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known missense c.2132 p.G711V 1.000 smart_ADAM_Cys-rich 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 96 0 0 82 23 21.9048 MAP2 0 genome.wustl.edu 37 2 210560529 210560529 + Missense_Mutation SNP T T C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 210560529 210560529 T C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.3635 p.I1212T 0.002 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 46 0 0 31 10 24.3902 SLC23A3 0 genome.wustl.edu 37 2 220026747 220026747 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 220026747 220026747 C A SNP SLC23A3 ENST00000455516 human ensembl 74_37 -1 known missense c.1741 p.D581Y 0.983 NULL pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC ENSG00000213901 34 0 0 37 9 19.5652 COL6A3 0 genome.wustl.edu 37 2 238234360 238234360 + Nonsense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 238234360 238234360 G T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known nonsense c.9336 p.C3112* 0.982 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 35 0 0 35 12 25.5319 PEX13 0 genome.wustl.edu 37 2 61275819 61275819 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 61275819 61275819 G T SNP PEX13 ENST00000295030 human ensembl 74_37 +1 known missense c.1126 p.A376S 1.000 NULL pfam_Peroxin-13_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PEX13 HGNC ENSG00000162928 93 0 0 82 14 14.5833 SIRPB2 0 genome.wustl.edu 37 20 1456815 1456815 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 20 1456815 1456815 C T SNP SIRPB2 ENST00000359801 human ensembl 74_37 -1 known silent c.1026 p.E342 0.023 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIRPB2 HGNC ENSG00000196209 114 0 0 72 44 37.931 ZNF341 0 genome.wustl.edu 37 20 32336741 32336741 + Missense_Mutation SNP A A G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 20 32336741 32336741 A G SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known missense c.352 p.I118V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 103 0 0 58 44 43.1373 GDF5 0 genome.wustl.edu 37 20 34022548 34022548 + Missense_Mutation SNP T T C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 20 34022548 34022548 T C SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known missense c.665 p.Y222C 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 241 0 0 201 48 19.2771 NEURL2 0 genome.wustl.edu 37 20 44519401 44519401 + Nonsense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 20 44519401 44519401 C T SNP NEURL2 ENST00000372518 human ensembl 74_37 -1 known nonsense c.230 p.W77* 1.000 pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C - no_errors NEURL2 HGNC ENSG00000124257 36 0 0 25 26 50.9804 MMP9 0 genome.wustl.edu 37 20 44642407 44642407 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 20 44642407 44642407 G A SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known silent c.1722 p.R574 0.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 19 0 0 23 14 37.8378 ARFGEF2 0 genome.wustl.edu 37 20 47602105 47602105 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 20 47602105 47602105 G A SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.2231 p.R744Q 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 61 0 0 80 16 16.6667 CASS4 0 genome.wustl.edu 37 20 55033513 55033513 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 20 55033513 55033513 C T SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.2071 p.H691Y 0.000 pfam_CAS_DUF3513 pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 104 0 0 156 41 20.8122 HELZ2 0 genome.wustl.edu 37 20 62200093 62200093 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 20 62200093 62200093 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.1348 p.P450S 1.000 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 16 0 0 19 3 13.6364 GMEB2 0 genome.wustl.edu 37 20 62234354 62234354 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 20 62234354 62234354 C T SNP GMEB2 ENST00000266068 human ensembl 74_37 -1 known silent c.321 p.K107 1.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 154 0 0 118 127 51.8367 CLDN17 0 genome.wustl.edu 37 21 31538438 31538438 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 21 31538438 31538438 G T SNP CLDN17 ENST00000286808 human ensembl 74_37 -1 known missense c.498 p.F166L 0.898 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8 - no_errors CLDN17 HGNC ENSG00000156282 32 0 0 10 24 70.5882 C21orf62 0 genome.wustl.edu 37 21 34166251 34166251 + Nonsense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 21 34166251 34166251 C T SNP C21orf62 ENST00000479548 human ensembl 74_37 -1 known nonsense c.482 p.W161* 0.398 NULL NULL - no_errors C21orf62 HGNC ENSG00000205929 56 0 0 29 10 25.641 MKL1 0 genome.wustl.edu 37 22 40814951 40814951 + Silent SNP G G C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 22 40814951 40814951 G C SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known silent c.1491 p.L497 0.942 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 57 0 0 46 17 26.9841 MEI1 0 genome.wustl.edu 37 22 42189872 42189872 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 22 42189872 42189872 G A SNP MEI1 ENST00000401548 human ensembl 74_37 +1 known missense c.3385 p.E1129K 1.000 NULL superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 25 0 0 12 4 25 IMPG2 0 genome.wustl.edu 37 3 100976610 100976610 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 100976610 100976610 C T SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.916 p.D306N 1.000 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 88 0 0 63 18 22.2222 IRAK2 0 genome.wustl.edu 37 3 10276201 10276201 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 10276201 10276201 C T SNP IRAK2 ENST00000256458 human ensembl 74_37 +1 known missense c.1331 p.T444M 0.001 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK2 HGNC ENSG00000134070 96 0 0 66 19 22.3529 C3orf30 0 genome.wustl.edu 37 3 118865646 118865646 + Nonsense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 118865646 118865646 C T SNP C3orf30 ENST00000295622 human ensembl 74_37 +1 known nonsense c.610 p.R204* 0.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 190 0 0 120 29 19.4631 POLQ 0 genome.wustl.edu 37 3 121178916 121178916 + Missense_Mutation SNP A A G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 121178916 121178916 A G SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.7133 p.L2378P 0.984 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 144 1 0.689655 99 40 28.777 TF 0 genome.wustl.edu 37 3 133465294 133465294 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 133465294 133465294 G A SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.10 p.A4T 0.083 pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 22 0 0 9 2 18.1818 AMOTL2 0 genome.wustl.edu 37 3 134090185 134090185 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 134090185 134090185 G A SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known silent c.91 p.L31 0.996 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 48 0 0 21 25 54.3478 TMEM43 0 genome.wustl.edu 37 3 14176343 14176343 + Silent SNP T T A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 14176343 14176343 T A SNP TMEM43 ENST00000306077 human ensembl 74_37 +1 known silent c.657 p.I219 0.465 pfam_TMEM43_fam pfam_TMEM43_fam - no_errors TMEM43 HGNC ENSG00000170876 64 0 0 43 12 21.8182 CNTN6 0 genome.wustl.edu 37 3 1427425 1427425 + Missense_Mutation SNP A A C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 1427425 1427425 A C SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.2648 p.N883T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 182 0 0 36 60 62.5 PLOD2 0 genome.wustl.edu 37 3 145790418 145790418 + Missense_Mutation SNP G G C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 145790418 145790418 G C SNP PLOD2 ENST00000282903 human ensembl 74_37 -1 known missense c.1778 p.S593C 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 63 0 0 38 10 20.8333 GPR171 0 genome.wustl.edu 37 3 150916462 150916462 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 150916462 150916462 G T SNP GPR171 ENST00000309180 human ensembl 74_37 -1 known missense c.712 p.P238T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR171 HGNC ENSG00000174946 126 0 0 65 26 28.5714 ZBBX 0 genome.wustl.edu 37 3 167023731 167023731 + Silent SNP A A C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 167023731 167023731 A C SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known silent c.1425 p.T475 0.003 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 24 0 0 12 5 29.4118 ZBBX 0 genome.wustl.edu 37 3 167039914 167039914 + Missense_Mutation SNP T T G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 167039914 167039914 T G SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.974 p.K325T 0.988 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 71 0 0 49 15 23.4375 DVL3 0 genome.wustl.edu 37 3 183882634 183882634 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 183882634 183882634 G A SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known missense c.514 p.G172S 0.993 pfam_Dishevelled_protein_dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 117 0 0 63 24 27.5862 XXYLT1 0 genome.wustl.edu 37 3 194790800 194790800 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 194790800 194790800 G A SNP XXYLT1 ENST00000310380 human ensembl 74_37 -1 known missense c.826 p.R276W 0.475 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 99 0 0 57 33 36.6667 CHL1 0 genome.wustl.edu 37 3 384687 384687 + Missense_Mutation SNP A A C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 384687 384687 A C SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.700 p.S234R 0.997 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 77 0 0 41 14 25.4545 SLC25A20 0 genome.wustl.edu 37 3 48916844 48916844 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 48916844 48916844 C T SNP SLC25A20 ENST00000319017 human ensembl 74_37 -1 known missense c.364 p.V122I 0.994 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A20 HGNC ENSG00000178537 194 0 0 88 51 36.6906 PRKCD 0 genome.wustl.edu 37 3 53218979 53218979 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 53218979 53218979 C A SNP PRKCD ENST00000330452 human ensembl 74_37 +1 known missense c.877 p.Q293K 1.000 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCD HGNC ENSG00000163932 81 0 0 47 14 22.9508 CAV3 0 genome.wustl.edu 37 3 8787374 8787374 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 8787374 8787374 G A SNP CAV3 ENST00000343849 human ensembl 74_37 +1 known missense c.277 p.A93T 1.000 pfam_Caveolin pfam_Caveolin - no_errors CAV3 HGNC ENSG00000182533 30 0 0 19 11 36.6667 SEC24D 0 genome.wustl.edu 37 4 119652578 119652578 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 4 119652578 119652578 G A SNP SEC24D ENST00000379735 human ensembl 74_37 -1 known silent c.2764 p.L922 0.794 pfam_Gelsolin_dom 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 - no_errors SEC24D HGNC ENSG00000150961 104 0 0 36 27 42.8571 FAT1 0 genome.wustl.edu 37 4 187628514 187628514 + Nonsense_Mutation SNP A A T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 4 187628514 187628514 A T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known nonsense c.2468 p.L823* 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 154 0 0 64 48 42.8571 NAT8L 0 genome.wustl.edu 37 4 2062773 2062773 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 4 2062773 2062773 C T SNP NAT8L ENST00000423729 human ensembl 74_37 +1 known missense c.425 p.P142L 0.999 superfamily_Acyl_CoA_acyltransferase pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8L HGNC ENSG00000185818 13 0 0 5 30 85.7143 KLB 0 genome.wustl.edu 37 4 39448186 39448186 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 4 39448186 39448186 G A SNP KLB ENST00000257408 human ensembl 74_37 +1 known missense c.1840 p.A614T 0.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 86 0 0 40 43 51.8072 EXOC1 0 genome.wustl.edu 37 4 56736993 56736993 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 4 56736993 56736993 G A SNP EXOC1 ENST00000346134 human ensembl 74_37 +1 known silent c.753 p.Q251 1.000 pfam_Exocyst_Exoc1/SEC3 pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 120 0 0 37 23 38.3333 JAKMIP1 0 genome.wustl.edu 37 4 6064098 6064098 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 4 6064098 6064098 C T SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.1501 p.A501T 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 75 0 0 81 34 29.5652 CENPC 0 genome.wustl.edu 37 4 68379942 68379942 + Missense_Mutation SNP C C G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 4 68379942 68379942 C G SNP CENPC ENST00000273853 human ensembl 74_37 -1 known missense c.1294 p.E432Q 0.133 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 33 0 0 15 2 11.7647 UBA6-AS1 0 genome.wustl.edu 37 4 68928501 68928501 + RNA SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 4 68928501 68928501 C T SNP UBA6-AS1 ENST00000500538 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UBA6-AS1 HGNC ENSG00000248049 94 0 0 95 18 15.9292 HELQ 0 genome.wustl.edu 37 4 84350749 84350749 + Missense_Mutation SNP T T A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 4 84350749 84350749 T A SNP HELQ ENST00000295488 human ensembl 74_37 -1 known missense c.2446 p.T816S 0.001 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 46 0 0 6 55 90.1639 SLC27A6 0 genome.wustl.edu 37 5 128302292 128302292 + Silent SNP A A G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 128302292 128302292 A G SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known silent c.462 p.R154 0.001 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 31 0 0 3 13 81.25 PCDHA3 0 genome.wustl.edu 37 5 140182706 140182706 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 140182706 140182706 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.1924 p.A642T 0.008 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 91 0 0 47 52 52.5253 PCDHB12 0 genome.wustl.edu 37 5 140588663 140588663 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 140588663 140588663 C T SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.184 p.R62W 0.017 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 129 0 0 64 49 43.3628 PCDHGA6 0 genome.wustl.edu 37 5 140755048 140755048 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 140755048 140755048 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.1398 p.P466 0.529 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 189 0 0 143 43 23.1183 PCDHGA8 0 genome.wustl.edu 37 5 140773250 140773250 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 140773250 140773250 G A SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known silent c.870 p.P290 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 106 0 0 42 49 53.8462 FBXL7 0 genome.wustl.edu 37 5 15936756 15936756 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 15936756 15936756 G A SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.937 p.D313N 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 28 0 0 13 31 70.4545 GABRA1 0 genome.wustl.edu 37 5 161324205 161324205 + Missense_Mutation SNP A A C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 161324205 161324205 A C SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.1148 p.D383A 1.000 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 146 0 0 78 26 25 PLEKHG4B 0 genome.wustl.edu 37 5 161981 161981 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 161981 161981 G A SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known silent c.1503 p.L501 0.181 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 70 0 0 26 49 65.3333 NSD1 0 genome.wustl.edu 37 5 176638327 176638327 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 176638327 176638327 C A SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.2927 p.A976D 0.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 77 0 0 54 13 19.403 PDZD2 0 genome.wustl.edu 37 5 32090272 32090272 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 32090272 32090272 C A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.6718 p.P2240T 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 417 0 0 376 88 18.9655 IRX1 0 genome.wustl.edu 37 5 3599588 3599588 + Missense_Mutation SNP A A G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 3599588 3599588 A G SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.526 p.T176A 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 119 0 0 133 24 15.2866 EGFLAM 0 genome.wustl.edu 37 5 38427162 38427162 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 38427162 38427162 C A SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.1862 p.A621E 0.002 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 170 0 0 136 30 18.0723 PAIP1 0 genome.wustl.edu 37 5 43536983 43536983 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 43536983 43536983 G A SNP PAIP1 ENST00000306846 human ensembl 74_37 -1 known silent c.910 p.L304 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Ataxin-2_C,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors PAIP1 HGNC ENSG00000172239 79 0 0 30 172 85.1485 CMYA5 0 genome.wustl.edu 37 5 79057703 79057703 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 79057703 79057703 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.11330 p.R3777Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 31 0 0 2 15 88.2353 QRSL1 0 genome.wustl.edu 37 6 107111010 107111010 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 107111010 107111010 G T SNP QRSL1 ENST00000369046 human ensembl 74_37 +1 known missense c.1316 p.R439I 1.000 pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA - no_errors QRSL1 HGNC ENSG00000130348 67 0 0 28 15 34.8837 TCF21 0 genome.wustl.edu 37 6 134210769 134210769 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 134210769 134210769 G T SNP TCF21 ENST00000237316 human ensembl 74_37 +1 known missense c.234 p.Q78H 1.000 superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF21 HGNC ENSG00000118526 55 0 0 41 15 26.7857 GRM1 0 genome.wustl.edu 37 6 146351157 146351157 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 146351157 146351157 C T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.504 p.A168 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 142 0 0 85 30 26.087 LATS1 0 genome.wustl.edu 37 6 150005125 150005125 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 150005125 150005125 G A SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.1100 p.T367I 0.121 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 83 0 0 55 22 28.5714 SLC17A1 0 genome.wustl.edu 37 6 25819768 25819768 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 25819768 25819768 C T SNP SLC17A1 ENST00000244527 human ensembl 74_37 -1 known missense c.500 p.R167Q 0.029 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt - no_errors SLC17A1 HGNC ENSG00000124568 102 0 0 64 16 20 RIPK1 0 genome.wustl.edu 37 6 3078166 3078166 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 3078166 3078166 C T SNP RIPK1 ENST00000259808 human ensembl 74_37 +1 known silent c.318 p.A106 0.050 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death_domain,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC ENSG00000137275 49 0 0 45 14 23.7288 HLA-DPA1 0 genome.wustl.edu 37 6 33041378 33041378 + RNA SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 33041378 33041378 C A SNP HLA-DPA1 ENST00000463066 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HLA-DPA1 HGNC ENSG00000231389 40 0 0 26 20 43.4783 ZNF76 0 genome.wustl.edu 37 6 35262953 35262953 + Silent SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 35262953 35262953 C A SNP ZNF76 ENST00000373953 human ensembl 74_37 +1 known silent c.1641 p.I547 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC ENSG00000065029 22 0 0 19 6 24 XPO5 0 genome.wustl.edu 37 6 43543539 43543539 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 43543539 43543539 C T SNP XPO5 ENST00000265351 human ensembl 74_37 -1 known missense c.63 p.M21I 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 136 0 0 226 72 24.1611 RUNX2 0 genome.wustl.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 45390466 45390466 A G SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known silent c.399 p.Q133 0.937 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 15 0 0 37 4 9.7561 LGSN 0 genome.wustl.edu 37 6 63990178 63990178 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 63990178 63990178 G A SNP LGSN ENST00000370657 human ensembl 74_37 -1 known silent c.1278 p.A426 0.103 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors LGSN HGNC ENSG00000146166 66 0 0 224 13 5.48523 EYS 0 genome.wustl.edu 37 6 66063353 66063353 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 66063353 66063353 G T SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1457 p.A486E 0.225 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 64 0 0 54 13 19.403 RIMS1 0 genome.wustl.edu 37 6 73001696 73001696 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 73001696 73001696 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.3797 p.R1266H 0.633 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 8 0 0 4 3 42.8571 SLC17A5 0 genome.wustl.edu 37 6 74346391 74346391 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 74346391 74346391 C A SNP SLC17A5 ENST00000355773 human ensembl 74_37 -1 known missense c.653 p.G218V 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 117 0 0 77 30 28.0374 FEZF1 0 genome.wustl.edu 37 7 121944205 121944205 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 121944205 121944205 C T SNP FEZF1 ENST00000442488 human ensembl 74_37 -1 known missense c.287 p.R96Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF1 HGNC ENSG00000128610 24 0 0 3 15 83.3333 GRM8 0 genome.wustl.edu 37 7 126882944 126882944 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 126882944 126882944 C T SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known silent c.315 p.T105 0.003 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 54 0 0 19 19 50 MRPS33 0 genome.wustl.edu 37 7 140706300 140706300 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 140706300 140706300 C T SNP MRPS33 ENST00000324787 human ensembl 74_37 -1 known missense c.251 p.R84Q 0.993 pfam_Ribosomal_S27/S33_mit pfam_Ribosomal_S27/S33_mit - no_errors MRPS33 HGNC ENSG00000090263 116 1 0.854701 22 50 69.4444 NOS3 0 genome.wustl.edu 37 7 150703991 150703991 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 150703991 150703991 G A SNP NOS3 ENST00000297494 human ensembl 74_37 +1 known missense c.1835 p.R612H 1.000 pfam_Flavodoxin/NO_synth,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 87 0 0 15 57 79.1667 RBM33 0 genome.wustl.edu 37 7 155530820 155530820 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 155530820 155530820 C T SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.1460 p.P487L 0.998 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 173 0 0 24 73 75.2577 HDAC9 0 genome.wustl.edu 37 7 19035693 19035693 + RNA SNP A A C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 19035693 19035693 A C SNP HDAC9 ENST00000496026 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HDAC9 HGNC ENSG00000048052 23 0 0 22 11 33.3333 DNAH11 0 genome.wustl.edu 37 7 21598515 21598515 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 21598515 21598515 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.591 p.K197 0.408 NULL 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 DNAH11 HGNC ENSG00000105877 24 0 0 15 4 21.0526 PAPOLB 0 genome.wustl.edu 37 7 4900521 4900521 + Silent SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 4900521 4900521 G T SNP PAPOLB ENST00000404991 human ensembl 74_37 -1 known silent c.918 p.P306 0.996 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 116 0 0 125 23 15.5405 EGFR 0 genome.wustl.edu 37 7 55223604 55223604 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 55223604 55223604 G A SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.971 p.R324H 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 31 0 0 22 18 45 KCTD7 0 genome.wustl.edu 37 7 66103848 66103848 + Missense_Mutation SNP T T A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 66103848 66103848 T A SNP KCTD7 ENST00000275532 human ensembl 74_37 +1 known missense c.499 p.L167M 0.307 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD7 HGNC ENSG00000243335 68 0 0 35 16 31.3725 WBSCR17 0 genome.wustl.edu 37 7 71036345 71036345 + Silent SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 71036345 71036345 C A SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.1038 p.G346 0.812 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 114 0 0 119 22 15.6028 NSUN5P2 0 genome.wustl.edu 37 7 72420625 72420625 + RNA SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 72420625 72420625 C T SNP NSUN5P2 ENST00000388955 human ensembl 74_37 -1 known rna NULL NULL 0.528 - - - no_errors NSUN5P2 HGNC ENSG00000106133 38 0 0 19 11 36.6667 PCLO 0 genome.wustl.edu 37 7 82543963 82543963 + Missense_Mutation SNP A A C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 82543963 82543963 A C SNP PCLO ENST00000437081 human ensembl 74_37 -1 putative missense c.3499 p.S1167A 1.000 NULL NULL - no_errors PCLO HGNC ENSG00000186472 20 0 0 11 9 45 STEAP2 0 genome.wustl.edu 37 7 89861667 89861667 + Missense_Mutation SNP T T G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 89861667 89861667 T G SNP STEAP2 ENST00000287908 human ensembl 74_37 +1 known missense c.1202 p.V401G 0.984 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP2 HGNC ENSG00000157214 29 0 0 14 10 41.6667 GAL3ST4 0 genome.wustl.edu 37 7 99757923 99757923 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 7 99757923 99757923 G T SNP GAL3ST4 ENST00000360039 human ensembl 74_37 -1 known missense c.1089 p.N363K 0.998 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST4 HGNC ENSG00000197093 106 0 0 52 21 28.7671 RP1L1 0 genome.wustl.edu 37 8 10469956 10469956 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 10469956 10469956 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.1652 p.R551Q 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 114 0 0 83 85 50.5952 ZFPM2 0 genome.wustl.edu 37 8 106813641 106813641 + Missense_Mutation SNP A A C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 106813641 106813641 A C SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.1331 p.K444T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 19 0 0 9 21 70 ANGPT1 0 genome.wustl.edu 37 8 108359227 108359227 + Silent SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 108359227 108359227 G T SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known silent c.396 p.T132 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 122 0 0 51 90 63.8298 TRPS1 0 genome.wustl.edu 37 8 116427108 116427108 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 116427108 116427108 G A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.3028 p.P1010S 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 128 0 0 129 47 26.7045 MTSS1 0 genome.wustl.edu 37 8 125565369 125565369 + Missense_Mutation SNP T T C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 125565369 125565369 T C SNP MTSS1 ENST00000518547 human ensembl 74_37 -1 known missense c.2132 p.Q711R 0.569 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 341 0 0 319 94 22.7603 LRRC6 0 genome.wustl.edu 37 8 133687678 133687678 + RNA SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 133687678 133687678 G T SNP LRRC6 ENST00000521430 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LRRC6 HGNC ENSG00000129295 127 0 0 128 47 26.8571 GPAA1 0 genome.wustl.edu 37 8 145139196 145139196 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 145139196 145139196 G T SNP GPAA1 ENST00000355091 human ensembl 74_37 +1 known missense c.776 p.C259F 1.000 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 99 0 0 104 23 18.1102 MYOM2 0 genome.wustl.edu 37 8 2054185 2054185 + Missense_Mutation SNP A A T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 2054185 2054185 A T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.2888 p.D963V 0.989 smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 80 0 0 84 31 26.9565 LGI3 0 genome.wustl.edu 37 8 22005847 22005847 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 22005847 22005847 C A SNP LGI3 ENST00000306317 human ensembl 74_37 -1 known missense c.1473 p.Q491H 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC ENSG00000168481 37 0 0 27 30 52.6316 SORBS3 0 genome.wustl.edu 37 8 22414348 22414348 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 22414348 22414348 G A SNP SORBS3 ENST00000240123 human ensembl 74_37 +1 known missense c.341 p.R114Q 0.235 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 80 0 0 92 17 15.5963 RHOBTB2 0 genome.wustl.edu 37 8 22864247 22864247 + Silent SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 22864247 22864247 C A SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known silent c.489 p.I163 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 69 0 0 89 12 11.8812 SCARA3 0 genome.wustl.edu 37 8 27516465 27516465 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 27516465 27516465 C T SNP SCARA3 ENST00000301904 human ensembl 74_37 +1 known missense c.778 p.R260W 0.999 NULL pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 53 0 0 45 27 37.5 SNAI2 0 genome.wustl.edu 37 8 49832925 49832925 + Missense_Mutation SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 49832925 49832925 G T SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.155 p.A52E 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 242 0 0 246 40 13.986 MYBL1 0 genome.wustl.edu 37 8 67492545 67492545 + Silent SNP A A C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 67492545 67492545 A C SNP MYBL1 ENST00000522677 human ensembl 74_37 -1 known silent c.924 p.S308 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 26 0 0 27 25 48.0769 OR1L3 0 genome.wustl.edu 37 9 125437502 125437502 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 9 125437502 125437502 C A SNP OR1L3 ENST00000304820 human ensembl 74_37 +1 known missense c.94 p.L32I 0.347 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L3 HGNC ENSG00000171481 128 0 0 96 34 26.1538 CIZ1 0 genome.wustl.edu 37 9 130940034 130940034 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 9 130940034 130940034 G A SNP CIZ1 ENST00000538431 human ensembl 74_37 -1 known silent c.1629 p.G543 0.982 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 24 0 0 6 6 50 SNAPC3 0 genome.wustl.edu 37 9 15433644 15433644 + RNA SNP A A G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 9 15433644 15433644 A G SNP SNAPC3 ENST00000461041 human ensembl 74_37 +1 known rna NULL NULL 0.194 - - - no_errors SNAPC3 HGNC ENSG00000164975 53 0 0 9 37 80.4348 ELAVL2 0 genome.wustl.edu 37 9 23692860 23692860 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 9 23692860 23692860 C T SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known missense c.775 p.G259R 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 55 0 0 30 22 42.3077 LINGO2 0 genome.wustl.edu 37 9 27949498 27949498 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 9 27949498 27949498 C T SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.1172 p.R391K 0.907 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 69 0 0 53 28 34.5679 ZNF658 0 genome.wustl.edu 37 9 40773269 40773269 + Missense_Mutation SNP T T C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 9 40773269 40773269 T C SNP ZNF658 ENST00000377626 human ensembl 74_37 -1 known missense c.2006 p.Y669C 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF658 HGNC ENSG00000196409 182 0 0 116 43 27.044 DAPK1 0 genome.wustl.edu 37 9 90266561 90266561 + Missense_Mutation SNP T T A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 9 90266561 90266561 T A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.1746 p.H582Q 0.946 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 75 0 0 47 17 26.5625 FBP2 0 genome.wustl.edu 37 9 97333768 97333768 + Silent SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 9 97333768 97333768 G A SNP FBP2 ENST00000375337 human ensembl 74_37 -1 known silent c.543 p.G181 0.909 pfam_FBPase_class-1/SBPase pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase - no_errors FBP2 HGNC ENSG00000130957 63 0 0 48 17 26.1538 TCEAL6 0 genome.wustl.edu 37 X 101396191 101396191 + Missense_Mutation SNP G G A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 X 101396191 101396191 G A SNP TCEAL6 ENST00000372773 human ensembl 74_37 -1 known missense c.113 p.A38V 0.000 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL6 HGNC ENSG00000204071 20 0 0 17 9 34.6154 TBC1D8B 0 genome.wustl.edu 37 X 106069425 106069425 + Silent SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 X 106069425 106069425 C T SNP TBC1D8B ENST00000357242 human ensembl 74_37 +1 known silent c.993 p.S331 1.000 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 58 0 0 43 24 35.8209 COL4A6 0 genome.wustl.edu 37 X 107400416 107400416 + Silent SNP G G T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 X 107400416 107400416 G T SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known silent c.4890 p.A1630 0.985 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 38 0 0 48 23 32.3944 TKTL1 0 genome.wustl.edu 37 X 153524217 153524217 + Missense_Mutation SNP C C T TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 X 153524217 153524217 C T SNP TKTL1 ENST00000369915 human ensembl 74_37 +1 known missense c.5 p.A2V 0.015 NULL pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 44 0 0 9 50 84.7458 MXRA5 0 genome.wustl.edu 37 X 3229022 3229022 + Missense_Mutation SNP C C A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 X 3229022 3229022 C A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.7222 p.A2408S 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 54 0 0 31 23 42.5926 KLF8 0 genome.wustl.edu 37 X 56295828 56295828 + Missense_Mutation SNP T T C TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 X 56295828 56295828 T C SNP KLF8 ENST00000468660 human ensembl 74_37 +1 known missense c.664 p.S222P 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF8 HGNC ENSG00000102349 17 0 0 8 10 55.5556 MED12 0 genome.wustl.edu 37 X 70360608 70360608 + Silent SNP A A G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 X 70360608 70360608 A G SNP MED12 ENST00000333646 human ensembl 74_37 +1 known silent c.6177 p.Q2059 0.291 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 53 0 0 44 4 8.33333 USP48 0 genome.wustl.edu 37 1 22007310 22007312 + In_Frame_Del DEL CTT CTT - TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 1 22007310 22007312 CTT - DEL USP48 ENST00000308271 human ensembl 74_37 -1 known in_frame_del c.3076_3074 p.E1025in_frame_del 1.000:1.000:1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 69 0 0 66 4 5.71429 CUBN 0 genome.wustl.edu 37 10 17165610 17165610 + Frame_Shift_Del DEL A A - TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 17165610 17165610 A - DEL CUBN ENST00000377833 human ensembl 74_37 -1 known frame_shift_del c.466 p.C156fs 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 46 0 0 34 2 5.55556 ANKRD30A 0 genome.wustl.edu 37 10 37506754 37506754 + Frame_Shift_Del DEL C C - TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 10 37506754 37506754 C - DEL ANKRD30A ENST00000361713 human ensembl 74_37 +1 known frame_shift_del c.3047 p.A1016fs 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 74 0 0 47 18 27.6923 TMEM87A 0 genome.wustl.edu 37 15 42564289 42564291 + In_Frame_Del DEL GAG GAG - TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 15 42564289 42564291 GAG - DEL TMEM87A ENST00000389834 human ensembl 74_37 -1 known in_frame_del c.177_175 p.L59in_frame_del 0.997:1.000:1.000 NULL pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 93 0 0 55 9 14.0625 CC2D1A 0 genome.wustl.edu 37 19 14037367 14037368 + Frame_Shift_Ins INS - - TCATC TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 14037367 14037368 - TCATC INS CC2D1A ENST00000318003 human ensembl 74_37 +1 known frame_shift_ins c.1978_1979 p.V662fs 0.987:0.998 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1A HGNC ENSG00000132024 51 0 0 30 19 38.7755 ZNF536 0 genome.wustl.edu 37 19 31039309 31039309 + Frame_Shift_Del DEL G G - TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 31039309 31039309 G - DEL ZNF536 ENST00000355537 human ensembl 74_37 +1 known frame_shift_del c.2783 p.S928fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 318 0 0 203 58 22.2222 NUP62 0 genome.wustl.edu 37 19 50411805 50411806 + Frame_Shift_Del DEL GG GG - TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 19 50411805 50411806 GG - DEL NUP62 ENST00000352066 human ensembl 74_37 -1 known frame_shift_del c.1260_1259 p.T420fs 1.000:1.000 pfam_Nucleoporin_NSP1_C pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 134 1 0.740741 89 21 19.0909 REV1 0 genome.wustl.edu 37 2 100055102 100055102 + Frame_Shift_Del DEL T T - TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 2 100055102 100055102 T - DEL REV1 ENST00000258428 human ensembl 74_37 -1 known frame_shift_del c.1174 p.M392fs 1.000 pirsf_REV1 pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 129 0 0 122 7 5.42636 ZBTB47 0 genome.wustl.edu 37 3 42700697 42700699 + In_Frame_Del DEL GAG GAG - TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 3 42700697 42700699 GAG - DEL ZBTB47 ENST00000232974 human ensembl 74_37 +1 known in_frame_del c.850_852 p.E287in_frame_del 0.744:0.724:0.667 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ENSG00000114853 13 0 0 5 2 28.5714 UTP3 0 genome.wustl.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 4 71554620 71554622 GAG - DEL UTP3 ENST00000254803 human ensembl 74_37 +1 known in_frame_del c.226_228 p.E79in_frame_del 0.044:0.001:0.001 NULL pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC ENSG00000132467 52 0 0 113 7 5.83333 FAT2 0 genome.wustl.edu 37 5 150905451 150905452 + Frame_Shift_Ins INS - - G TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 5 150905451 150905452 - G INS FAT2 ENST00000261800 human ensembl 74_37 -1 known frame_shift_ins c.10384_10383 p.Y3461fs 1.000:0.841 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 77 0 0 59 18 23.3766 SLC2A12 0 genome.wustl.edu 37 6 134350098 134350099 + Frame_Shift_Ins INS - - A TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 6 134350098 134350099 - A INS SLC2A12 ENST00000275230 human ensembl 74_37 -1 known frame_shift_ins c.865_864 p.V288fs 1.000:1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 137 0 0 59 32 35.1648 TSNARE1 0 genome.wustl.edu 37 8 143425409 143425410 + Frame_Shift_Del DEL GA GA - TCGA-FP-7829-01A-11D-2053-08 TCGA-FP-7829-10A-01D-2053-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27986151-673b-48a6-91de-e53a8fc0b5f7 0711b9a6-40cf-4b14-b63e-b6e4ff5f9069 8 143425409 143425410 GA - DEL TSNARE1 ENST00000307180 human ensembl 74_37 -1 known frame_shift_del c.663_662 p.L221fs 0.124:0.076 NULL pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 43 0 0 45 4 8.16327