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 ABCC9 0 genome.wustl.edu 37 12 22059129 22059129 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 22059129 22059129 T G SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.1549 p.S517R 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 63 0 0.00 35 11 23.91 ABCC9 0 genome.wustl.edu 37 12 22069971 22069971 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 22069971 22069971 G A SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.473 p.S158F 0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 64 0 0.00 35 9 20.45 ABI3BP 0 genome.wustl.edu 37 3 100508347 100508347 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 100508347 100508347 A C SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known missense c.1980 p.F660L 0.004 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 tier1 - - 60 0 0.00 15 20 57.14 ACAN 0 genome.wustl.edu 37 15 89401826 89401826 + Missense_Mutation SNP T T A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 15 89401826 89401826 T A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.6010 p.F2004I 0.481 NULL 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 tier1 - - 25 0 0.00 20 5 20.00 ACSM2A 0 genome.wustl.edu 37 16 20488699 20488699 + Silent SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 20488699 20488699 T G SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known silent c.1107 p.T369 0.032 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 86 0 0.00 65 4 5.80 ACSM2B 0 genome.wustl.edu 37 16 20557788 20557788 + Silent SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 20557788 20557788 A C SNP ACSM2B ENST00000329697 human ensembl 74_37 -1 known silent c.1107 p.T369 0.038 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 tier1 - - 47 0 0.00 46 18 28.12 ACTL7A 0 genome.wustl.edu 37 9 111624721 111624721 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 111624721 111624721 G A SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.119 p.R40Q 0.981 NULL pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 tier1 - - 64 0 0.00 30 12 27.91 ACTL9 0 genome.wustl.edu 37 19 8808052 8808052 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 8808052 8808052 A C SNP ACTL9 ENST00000324436 human ensembl 74_37 -1 known missense c.1000 p.L334V 0.012 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 tier1 - - 82 0 0.00 38 18 32.14 ADAMTS20 0 genome.wustl.edu 37 12 43886311 43886311 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 43886311 43886311 G T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.1073 p.T358N 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 61 0 0.00 30 4 11.76 ADCK5 0 genome.wustl.edu 37 8 145617857 145617857 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 8 145617857 145617857 G A SNP ADCK5 ENST00000308860 human ensembl 74_37 +1 known missense c.1465 p.A489T 0.972 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 32 0 0.00 13 4 23.53 AEBP1 0 genome.wustl.edu 37 7 44153778 44153780 + In_Frame_Del DEL AGA AGA - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 44153778 44153780 AGA - DEL AEBP1 ENST00000223357 human ensembl 74_37 +1 known in_frame_del c.3395_3397 p.K1133in_frame_del 0.009:0.011:0.010 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 tier1 43 0 0.00 16 2 11.11 AHSP 0 genome.wustl.edu 37 16 31539954 31539954 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 31539954 31539954 A C SNP AHSP ENST00000302312 human ensembl 74_37 +1 known missense c.251 p.K84T 0.877 pfam_A_Hb_stabilising_prot,superfamily_A_Hb_stabilising_prot pfam_A_Hb_stabilising_prot,superfamily_A_Hb_stabilising_prot - no_errors AHSP HGNC ENSG00000169877 tier1 - - 58 0 0.00 37 13 26.00 AIDA 0 genome.wustl.edu 37 1 222843058 222843059 + RNA DEL GT GT - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 222843058 222843059 GT - DEL AIDA ENST00000474863 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.002 - - - no_errors AIDA HGNC ENSG00000186063 tier1 14 0 0.00 3 3 50.00 ALDH1A1 0 genome.wustl.edu 37 9 75526890 75526890 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 75526890 75526890 C T SNP ALDH1A1 ENST00000297785 human ensembl 74_37 -1 known missense c.1184 p.R395H 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 55 0 0.00 46 3 6.12 ALG10B 0 genome.wustl.edu 37 12 38714844 38714844 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 38714844 38714844 C T SNP ALG10B ENST00000308742 human ensembl 74_37 +1 known silent c.1251 p.Y417 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10B HGNC ENSG00000175548 tier1 - - 82 0 0.00 13 30 69.77 ALKBH2 0 genome.wustl.edu 37 12 109526081 109526081 + Missense_Mutation SNP G G C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 109526081 109526081 G C SNP ALKBH2 ENST00000343075 human ensembl 74_37 -1 known missense c.716 p.P239R 1.000 pfam_Oxoglu/Fe-dep_dioxygenase pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH2 HGNC ENSG00000189046 tier1 - - 79 0 0.00 16 14 46.67 AMIGO3 0 genome.wustl.edu 37 3 49756121 49756121 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 49756121 49756121 G A SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known missense c.778 p.R260C 0.444 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 tier1 - - 36 0 0.00 25 15 37.50 ANKRA2 0 genome.wustl.edu 37 5 72849286 72849286 + Silent SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 72849286 72849286 T C SNP ANKRA2 ENST00000296785 human ensembl 74_37 -1 known silent c.831 p.E277 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRA2 HGNC ENSG00000164331 tier1 - - 23 0 0.00 21 4 16.00 ANKRA2 0 genome.wustl.edu 37 5 72857076 72857076 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 72857076 72857076 A C SNP ANKRA2 ENST00000296785 human ensembl 74_37 -1 known missense c.327 p.I109M 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRA2 HGNC ENSG00000164331 tier1 - - 83 0 0.00 50 14 21.88 ANKRD36 0 genome.wustl.edu 37 2 97866072 97866072 + Silent SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 97866072 97866072 G A SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known silent c.2757 p.V919 0.025 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 tier1 - - 167 0 0.00 88 19 17.76 APC2 0 genome.wustl.edu 37 19 1466955 1466955 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 1466955 1466955 G A SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.3655 p.A1219T 0.164 NULL pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 tier1 - - 23 0 0.00 4 6 60.00 ARHGAP5 0 genome.wustl.edu 37 14 32559920 32559920 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 14 32559920 32559920 C T SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known silent c.45 p.I15 1.000 superfamily_P-loop_NTPase pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 - - 73 0 0.00 47 17 26.56 ARID5B 0 genome.wustl.edu 37 10 63816992 63816992 + Silent SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 63816992 63816992 A G SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known silent c.963 p.E321 0.999 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 55 0 0.00 47 3 6.00 ASB17 0 genome.wustl.edu 37 1 76387872 76387872 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 76387872 76387872 C T SNP ASB17 ENST00000284142 human ensembl 74_37 -1 known missense c.574 p.V192I 1.000 NULL pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ENSG00000154007 tier1 - - 92 0 0.00 39 36 48.00 ATP10B 0 genome.wustl.edu 37 5 160033953 160033953 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 160033953 160033953 T G SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.2979 p.E993D 0.001 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 tier1 - - 85 0 0.00 42 12 22.22 ATP10D 0 genome.wustl.edu 37 4 47593309 47593309 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 4 47593309 47593309 T G SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.4192 p.L1398V 0.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 tier1 - - 35 0 0.00 12 8 40.00 ATP11C 0 genome.wustl.edu 37 X 138897121 138897121 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 138897121 138897121 G T SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known missense c.351 p.H117Q 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 tier1 - - 50 0 0.00 52 4 7.14 ATP6V1A 0 genome.wustl.edu 37 3 113499971 113499971 + Nonsense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 113499971 113499971 G T SNP ATP6V1A ENST00000273398 human ensembl 74_37 +1 known nonsense c.157 p.E53* 1.000 pfam_ATPase_F1_a/bsu_N,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ENSG00000114573 54 0 0.00 25 2 7.41 ATP8B5P 0 genome.wustl.edu 37 9 35449617 35449617 + Splice_Site SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 35449617 35449617 A G SNP ATP8B5P ENST00000430846 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors ATP8B5P HGNC ENSG00000179766 tier1 - - 19 0 0.00 20 11 35.48 ATRX 0 genome.wustl.edu 37 X 76763679 76763679 + RNA SNP T T A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 76763679 76763679 T A SNP ATRX ENST00000480283 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors ATRX HGNC ENSG00000085224 tier1 - - 30 0 0.00 14 4 22.22 AUTS2 0 genome.wustl.edu 37 7 70254984 70254984 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 70254984 70254984 G A SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.2782 p.A928T 0.002 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 tier1 - - 33 0 0.00 14 5 26.32 AZGP1P1 0 genome.wustl.edu 37 7 99580920 99580920 + RNA SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 99580920 99580920 C A SNP AZGP1P1 ENST00000425474 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors AZGP1P1 HGNC ENSG00000214313 tier1 - - 119 0 0.00 65 4 5.80 B4GALT1 0 genome.wustl.edu 37 9 33116035 33116035 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 33116035 33116035 T G SNP B4GALT1 ENST00000379731 human ensembl 74_37 -1 known missense c.913 p.N305H 1.000 pfam_Galactosyl_T_C,prints_Galactosyl_T pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT1 HGNC ENSG00000086062 tier1 - - 112 0 0.00 63 14 18.18 BANK1 0 genome.wustl.edu 37 4 102984282 102984282 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 4 102984282 102984282 A C SNP BANK1 ENST00000322953 human ensembl 74_37 +1 known missense c.2199 p.E733D 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 tier1 - - 72 0 0.00 25 25 50.00 BCHE 0 genome.wustl.edu 37 3 165547508 165547508 + Silent SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 165547508 165547508 T G SNP BCHE ENST00000264381 human ensembl 74_37 -1 known silent c.1314 p.S438 0.061 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 tier1 - - 45 0 0.00 17 48 73.85 BCHE 0 genome.wustl.edu 37 3 165548672 165548672 + Silent SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 165548672 165548672 A C SNP BCHE ENST00000264381 human ensembl 74_37 -1 known silent c.150 p.G50 0.449 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 tier1 - - 74 0 0.00 56 8 12.50 BCL10 0 genome.wustl.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 85736511 85736511 T - DEL BCL10 ENST00000370580 human ensembl 74_37 -1 known frame_shift_del c.136 p.I46fs 1.000 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors BCL10 HGNC ENSG00000142867 tier1 70 0 0.00 29 3 9.38 BCL2L12 0 genome.wustl.edu 37 19 50169243 50169243 + Missense_Mutation SNP G G C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 50169243 50169243 G C SNP BCL2L12 ENST00000246785 human ensembl 74_37 +1 known missense c.163 p.V55L 0.999 NULL NULL - no_errors BCL2L12 HGNC ENSG00000126453 tier1 - - 43 0 0.00 27 25 48.08 BDNF 0 genome.wustl.edu 37 11 27678626 27678627 + RNA INS - - T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 27678626 27678627 - T INS BDNF ENST00000584049 human ensembl 74_37 -1 known rna NULL NULL 0.024:0.026 - - - no_errors BDNF HGNC ENSG00000176697 tier1 11 0 0.00 3 6 66.67 BMS1P8 0 genome.wustl.edu 37 16 33489973 33489973 + RNA SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 33489973 33489973 T C SNP BMS1P8 ENST00000567036 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BMS1P8 HGNC ENSG00000260518 tier1 - - 40 0 0.00 20 5 20.00 BTBD2 0 genome.wustl.edu 37 19 1990135 1990135 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 1990135 1990135 C T SNP BTBD2 ENST00000255608 human ensembl 74_37 -1 known missense c.856 p.V286I 0.967 pfam_BACK,smart_BACK pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD2 HGNC ENSG00000133243 tier1 rs36020359 - 124 0 0.00 52 38 42.22 C10orf129 0 genome.wustl.edu 37 10 96971633 96971633 + Splice_Site SNP A A T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 96971633 96971633 A T SNP C10orf129 ENST00000341686 human ensembl 74_37 +1 known splice_site c.756-2 e5-2 0.965 - - - no_errors C10orf129 HGNC ENSG00000173124 tier1 - - 59 0 0.00 34 8 19.05 C10orf71 0 genome.wustl.edu 37 10 50530604 50530604 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 50530604 50530604 A C SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known missense c.14 p.N5T 0.983 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 tier1 - - 48 0 0.00 26 11 29.73 C3orf58 0 genome.wustl.edu 37 3 143697305 143697305 + RNA SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 143697305 143697305 C A SNP C3orf58 ENST00000491798 human ensembl 74_37 +1 putative rna NULL NULL 0.212 - - - no_errors C3orf58 HGNC ENSG00000181744 tier1 - - 33 0 0.00 10 13 56.52 CABIN1 0 genome.wustl.edu 37 22 24561508 24561508 + Nonsense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 22 24561508 24561508 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known nonsense c.4921 p.R1641* 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 26 0 0.00 20 2 9.09 CALCOCO2 0 genome.wustl.edu 37 17 46919216 46919216 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 46919216 46919216 C T SNP CALCOCO2 ENST00000258947 human ensembl 74_37 +1 known silent c.147 p.I49 0.111 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO2 HGNC ENSG00000136436 tier1 - - 66 0 0.00 49 13 20.97 CCDC154 0 genome.wustl.edu 37 16 1485995 1485995 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 1485995 1485995 G A SNP CCDC154 ENST00000389176 human ensembl 74_37 -1 known missense c.1607 p.A536V 0.696 NULL NULL - no_errors CCDC154 HGNC ENSG00000197599 tier1 - - 121 0 0.00 150 25 14.29 CCDC180 0 genome.wustl.edu 37 9 100071871 100071871 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 100071871 100071871 A C SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.377 p.N126T 1.000 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 tier1 - - 57 0 0.00 26 8 23.53 CCDC30 0 genome.wustl.edu 37 1 42948562 42948563 + RNA INS - - A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 42948562 42948563 - A INS CCDC30 ENST00000475614 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.003 - - - no_errors CCDC30 HGNC ENSG00000186409 tier1 22 0 0.00 15 4 21.05 CCDC38 0 genome.wustl.edu 37 12 96310928 96310928 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 96310928 96310928 G T SNP CCDC38 ENST00000344280 human ensembl 74_37 -1 known missense c.283 p.P95T 0.011 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 125 0 0.00 51 4 7.27 CCL20 0 genome.wustl.edu 37 2 228681989 228681989 + RNA SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 228681989 228681989 A C SNP CCL20 ENST00000473642 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CCL20 HGNC ENSG00000115009 tier1 - - 17 0 0.00 8 8 50.00 CD1E 0 genome.wustl.edu 37 1 158325955 158325955 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 158325955 158325955 G T SNP CD1E ENST00000434258 human ensembl 74_37 +1 known missense c.958 p.V320L 0.001 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 tier1 - - 74 0 0.00 74 4 5.13 CDH11 0 genome.wustl.edu 37 16 65022113 65022113 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 65022113 65022113 A C SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.946 p.F316V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 55 0 0.00 11 21 65.62 CDH11 0 genome.wustl.edu 37 16 65032509 65032509 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 65032509 65032509 A G SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.479 p.L160P 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 32 0 0.00 10 18 64.29 CDH23 0 genome.wustl.edu 37 10 73501725 73501725 + RNA SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 73501725 73501725 G T SNP CDH23 ENST00000398792 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 34 0 0.00 44 4 8.33 CDH6 0 genome.wustl.edu 37 5 31305342 31305342 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 31305342 31305342 T G SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known missense c.1061 p.V354G 0.016 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 tier1 - - 141 0 0.00 55 42 43.30 CDH9 0 genome.wustl.edu 37 5 26902779 26902779 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 26902779 26902779 G T SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1059 p.H353Q 0.890 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 59 0 0.00 37 3 7.32 CDPF1 0 genome.wustl.edu 37 22 46643007 46643007 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 22 46643007 46643007 C T SNP CDPF1 ENST00000381037 human ensembl 74_37 -1 known silent c.225 p.P75 1.000 pfam_Cys-rich_DPF,prints_Cys-rich_DPF pfam_Cys-rich_DPF,prints_Cys-rich_DPF - no_errors CDPF1 HGNC ENSG00000205643 tier1 - - 38 0 0.00 37 13 25.49 CELSR3 0 genome.wustl.edu 37 3 48697920 48697920 + Silent SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 48697920 48697920 A C SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known silent c.2148 p.R716 0.558 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 tier1 - - 52 0 0.00 14 5 26.32 CFHR4 0 genome.wustl.edu 37 1 196875999 196875999 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 196875999 196875999 G A SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known missense c.445 p.D149N 0.076 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 tier1 - - 83 0 0.00 72 13 15.12 CHST15 0 genome.wustl.edu 37 10 125805569 125805569 + Silent SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 125805569 125805569 A G SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known silent c.160 p.L54 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 tier1 - - 68 0 0.00 47 26 35.62 CHST9 0 genome.wustl.edu 37 18 24496569 24496569 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 18 24496569 24496569 T G SNP CHST9 ENST00000284224 human ensembl 74_37 -1 known missense c.986 p.K329T 0.769 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 tier1 - - 57 0 0.00 25 14 35.90 CHSY3 0 genome.wustl.edu 37 5 129520931 129520931 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 129520931 129520931 T G SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.2096 p.L699R 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 tier1 - - 28 0 0.00 10 5 33.33 CLEC6A 0 genome.wustl.edu 37 12 8629933 8629933 + Missense_Mutation SNP A A T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 8629933 8629933 A T SNP CLEC6A ENST00000382073 human ensembl 74_37 +1 known missense c.503 p.E168V 0.819 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 CLEC6A HGNC ENSG00000205846 tier1 - - 93 0 0.00 35 24 40.68 CNNM2 0 genome.wustl.edu 37 10 104828465 104828465 + Frame_Shift_Del DEL T T - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 104828465 104828465 T - DEL CNNM2 ENST00000369878 human ensembl 74_37 +1 known frame_shift_del c.2153 p.L718fs 1.000 superfamily_cNMP-bd-like pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 tier1 57 0 0.00 16 2 11.11 CNOT1 0 genome.wustl.edu 37 16 58585583 58585583 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 58585583 58585583 G T SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.3111 p.S1037R 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 49 0 0.00 31 3 8.82 COL21A1 0 genome.wustl.edu 37 6 55926451 55926451 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 55926451 55926451 C T SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known missense c.2201 p.G734E 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 97 0 0.00 39 3 7.14 COL5A1 0 genome.wustl.edu 37 9 137700837 137700837 + RNA SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 137700837 137700837 A C SNP COL5A1 ENST00000463925 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors COL5A1 HGNC ENSG00000130635 tier1 - - 15 0 0.00 6 10 62.50 COX20 0 genome.wustl.edu 37 1 245005261 245005261 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 245005261 245005261 G A SNP COX20 ENST00000411948 human ensembl 74_37 +1 known missense c.58 p.G20R 1.000 pfam_Cox20/FAM36A pfam_Cox20/FAM36A,prints_FAM36A - no_errors COX20 HGNC ENSG00000203667 tier1 - - 127 0 0.00 133 18 11.92 CPM 0 genome.wustl.edu 37 12 69252767 69252767 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 69252767 69252767 G A SNP CPM ENST00000338356 human ensembl 74_37 -1 known missense c.1025 p.P342L 1.000 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Aste_AspA,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPM HGNC ENSG00000135678 tier1 - - 101 0 0.00 536 52 8.84 CRAT 0 genome.wustl.edu 37 9 131860909 131860909 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 131860909 131860909 C T SNP CRAT ENST00000318080 human ensembl 74_37 -1 known missense c.1106 p.R369Q 0.740 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 tier1 - - 35 0 0.00 15 6 28.57 CSMD3 0 genome.wustl.edu 37 8 113358340 113358340 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 8 113358340 113358340 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.6428 p.L2143P 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 46 0 0.00 30 19 38.78 CTBP2 0 genome.wustl.edu 37 10 126682492 126682492 + Silent SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 126682492 126682492 T C SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known silent c.2463 p.L821 0.991 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 tier1 - - 34 0 0.00 18 12 40.00 CTNNA1 0 genome.wustl.edu 37 5 138221961 138221961 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 138221961 138221961 A G SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known missense c.1123 p.T375A 1.000 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 tier1 - - 62 0 0.00 41 15 26.79 CYLC1 0 genome.wustl.edu 37 X 83129079 83129079 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 83129079 83129079 A C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.1363 p.K455Q 0.054 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 35 0 0.00 5 17 77.27 CYTH2 0 genome.wustl.edu 37 19 48978119 48978119 + Nonsense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 48978119 48978119 G T SNP CYTH2 ENST00000427476 human ensembl 74_37 +1 known nonsense c.721 p.E241* 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH2 HGNC ENSG00000105443 tier1 - - 71 0 0.00 36 17 32.08 DACH1 0 genome.wustl.edu 37 13 72147054 72147054 + Missense_Mutation SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 13 72147054 72147054 T C SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known missense c.1379 p.N460S 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 tier1 - - 57 0 0.00 37 8 17.78 DCDC1 0 genome.wustl.edu 37 11 31263046 31263046 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 31263046 31263046 A C SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.1172 p.L391R 1.000 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 60 0 0.00 44 8 15.38 DCLK1 0 genome.wustl.edu 37 13 36429667 36429667 + RNA SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 13 36429667 36429667 G A SNP DCLK1 ENST00000460982 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 34 0 0.00 18 11 37.93 DDC 0 genome.wustl.edu 37 7 50596980 50596980 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 50596980 50596980 G A SNP DDC ENST00000357936 human ensembl 74_37 -1 known missense c.496 p.R166W 0.074 pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors DDC HGNC ENSG00000132437 tier1 - - 47 0 0.00 17 10 37.04 DDX1 0 genome.wustl.edu 37 2 15768947 15768947 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 15768947 15768947 C T SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known missense c.1859 p.A620V 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 53 0 0.00 31 2 6.06 DHX9 0 genome.wustl.edu 37 1 182844088 182844088 + Missense_Mutation SNP A A T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 182844088 182844088 A T SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.1814 p.D605V 1.000 superfamily_P-loop_NTPase pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 tier1 - - 81 0 0.00 27 72 72.00 DLG2 0 genome.wustl.edu 37 11 84245712 84245712 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 84245712 84245712 T G SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.420 p.E140D 1.000 pfam_MAGUK_PEST_N,pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 tier1 - - 72 0 0.00 26 11 29.73 DNAH10 0 genome.wustl.edu 37 12 124319972 124319972 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 124319972 124319972 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.4445 p.R1482I 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 92 0 0.00 32 3 8.57 DNAH12 0 genome.wustl.edu 37 3 57509603 57509603 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 57509603 57509603 C T SNP DNAH12 ENST00000351747 human ensembl 74_37 -1 known missense c.179 p.G60E 0.672 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 tier1 - - 66 0 0.00 58 16 21.62 DNAH14 0 genome.wustl.edu 37 1 225562479 225562479 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 225562479 225562479 C T SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known silent c.12129 p.Y4043 0.922 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 51 0 0.00 55 3 5.17 DNAH5 0 genome.wustl.edu 37 5 13824430 13824430 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 13824430 13824430 A C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.6457 p.F2153V 1.000 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,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 49 0 0.00 25 15 37.50 DNAH7 0 genome.wustl.edu 37 2 196737077 196737077 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 196737077 196737077 A G SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.6530 p.L2177S 0.967 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 99 0 0.00 44 4 8.33 DNAJC6 0 genome.wustl.edu 37 1 65878666 65878666 + Silent SNP C C G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 65878666 65878666 C G SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known silent c.2871 p.A957 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 tier1 - - 82 0 0.00 51 28 35.44 DOCK2 0 genome.wustl.edu 37 5 169423113 169423113 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 169423113 169423113 A C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.3017 p.K1006T 1.000 superfamily_ARM-type_fold,superfamily_Ferritin-like_SF pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 63 0 0.00 25 19 43.18 DOCK3 0 genome.wustl.edu 37 3 51317601 51317601 + Missense_Mutation SNP T T A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 51317601 51317601 T A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.2888 p.L963H 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 84 0 0.00 38 23 37.70 DOCK3 0 genome.wustl.edu 37 3 51387791 51387791 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 51387791 51387791 T G SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.4075 p.F1359V 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 67 0 0.00 36 30 45.45 DROSHA 0 genome.wustl.edu 37 5 31424571 31424571 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 31424571 31424571 C T SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.3224 p.R1075H 1.000 superfamily_RNase_III_dom,smart_RNase_III_dom pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 tier1 - - 57 0 0.00 26 4 13.33 DYM 0 genome.wustl.edu 37 18 46889556 46889556 + Nonsense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 18 46889556 46889556 G A SNP DYM ENST00000269445 human ensembl 74_37 -1 known nonsense c.469 p.Q157* 0.999 pfam_Dymeclin pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC ENSG00000141627 tier1 - - 26 0 0.00 21 4 16.00 E2F1 0 genome.wustl.edu 37 20 32265042 32265042 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 20 32265042 32265042 G T SNP E2F1 ENST00000343380 human ensembl 74_37 -1 known missense c.935 p.P312Q 0.081 NULL pfam_E2F_TDP - no_errors E2F1 HGNC ENSG00000101412 tier1 - - 68 0 0.00 46 4 8.00 EFCAB6 0 genome.wustl.edu 37 22 43936111 43936111 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 22 43936111 43936111 G T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.3775 p.Q1259K 0.999 pfam_EF_hand_Ca-bd_contain_6 pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 tier1 - - 42 0 0.00 35 4 10.26 EGFLAM 0 genome.wustl.edu 37 5 38406988 38406988 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 38406988 38406988 A C SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known missense c.887 p.K296T 0.002 NULL 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 tier1 - - 41 0 0.00 17 7 29.17 ELF4 0 genome.wustl.edu 37 X 129200949 129200949 + Frame_Shift_Del DEL G G - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 129200949 129200949 G - DEL ELF4 ENST00000308167 human ensembl 74_37 -1 known frame_shift_del c.1739 p.P580fs 1.000 NULL pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF4 HGNC ENSG00000102034 tier1 69 0 0.00 12 33 73.33 ELMO1 0 genome.wustl.edu 37 7 37243820 37243820 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 37243820 37243820 A C SNP ELMO1 ENST00000341056 human ensembl 74_37 -1 known missense c.86 p.L29R 0.060 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMO1 HGNC ENSG00000155849 tier1 - - 13 0 0.00 5 12 70.59 ELMO1 0 genome.wustl.edu 37 7 37382289 37382289 + Silent SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 37382289 37382289 C A SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known silent c.6 p.P2 0.929 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 tier1 - - 31 0 0.00 11 14 56.00 EML4 0 genome.wustl.edu 37 2 42508029 42508029 + Missense_Mutation SNP T T A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 42508029 42508029 T A SNP EML4 ENST00000318522 human ensembl 74_37 +1 known missense c.707 p.I236N 1.000 pfam_HELP pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 tier1 - - 48 0 0.00 29 12 29.27 EMR1 0 genome.wustl.edu 37 19 6906515 6906515 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 6906515 6906515 G T SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.1021 p.A341S 0.000 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 tier1 - - 137 0 0.00 62 29 31.87 EMR4P 0 genome.wustl.edu 37 19 6972314 6972314 + RNA SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 6972314 6972314 A C SNP EMR4P ENST00000600751 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EMR4P HGNC ENSG00000268758 tier1 - - 67 0 0.00 36 20 35.71 ENGASE 0 genome.wustl.edu 37 17 77078179 77078179 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 77078179 77078179 C T SNP ENGASE ENST00000539857 human ensembl 74_37 +1 known missense c.514 p.P172S 0.004 NULL pfam_Glyco_hydro_85 - no_errors ENGASE HGNC ENSG00000167280 tier1 - - 78 0 0.00 26 8 23.53 ENSG00000188971 0 genome.wustl.edu 37 2 69685840 69685841 + RNA DEL CA CA - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 69685840 69685841 CA - DEL ENSG00000188971 ENST00000606389 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-427H3.3 Clone_based_vega_gene ENSG00000188971 tier1 41 0 0.00 25 2 7.41 ENSG00000203849 0 genome.wustl.edu 37 1 142620750 142620750 + RNA SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 142620750 142620750 A G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 45 0 0.00 42 6 12.50 ENSG00000214581 0 genome.wustl.edu 37 16 34681602 34681602 + RNA SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 34681602 34681602 T G SNP ENSG00000214581 ENST00000568619 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000214581 tier1 - - 60 0 0.00 12 14 53.85 ENSG00000222670 0 genome.wustl.edu 37 GL000241.1 11536 11536 + RNA SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 GL000241.1 11536 11536 T G SNP ENSG00000222670 ENST00000410738 human ensembl 74_37 -1 known rna NULL NULL NULL - - - no_errors CU459211.1 Clone_based_ensembl_gene ENSG00000222670 tier1 - - 276 0 0.00 143 10 6.54 ENSG00000224631 0 genome.wustl.edu 37 16 61089587 61089587 + RNA SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 61089587 61089587 T G SNP ENSG00000224631 ENST00000591758 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-51O6.1 Clone_based_vega_gene ENSG00000224631 tier1 - - 35 0 0.00 4 10 71.43 ENSG00000228748 0 genome.wustl.edu 37 10 79551102 79551102 + RNA DEL A A - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 79551102 79551102 A - DEL ENSG00000228748 ENST00000601701 human ensembl 74_37 +1 known rna NULL NULL 0.981 - - - no_errors RP13-39P12.3 Clone_based_vega_gene ENSG00000228748 tier1 42 0 0.00 30 3 9.09 ENSG00000234864 0 genome.wustl.edu 37 10 43197667 43197667 + RNA SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 43197667 43197667 A C SNP ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 tier1 - - 40 0 0.00 28 14 33.33 ENSG00000239051 0 genome.wustl.edu 37 GL000224.1 166772 166772 + RNA SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 GL000224.1 166772 166772 T G SNP ENSG00000239051 ENST00000458962 human ensembl 74_37 +1 novel rna NULL NULL NULL - - - no_errors AL591856.2 Clone_based_ensembl_gene ENSG00000239051 tier1 - - 41 0 0.00 3 3 50.00 ENSG00000244227 0 genome.wustl.edu 37 3 167621203 167621203 + RNA SNP T T A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 167621203 167621203 T A SNP ENSG00000244227 ENST00000459923 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-298O21.5 Clone_based_vega_gene ENSG00000244227 tier1 - - 33 0 0.00 52 4 7.14 ENSG00000259618 0 genome.wustl.edu 37 15 50789208 50789208 + RNA SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 15 50789208 50789208 G A SNP ENSG00000259618 ENST00000560159 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-562A8.5 Clone_based_vega_gene ENSG00000259618 tier1 - - 37 0 0.00 40 11 21.57 ENSG00000261519 0 genome.wustl.edu 37 16 66584128 66584129 + RNA INS - - T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 66584128 66584129 - T INS ENSG00000261519 ENST00000563151 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors Y_RNA RFAM ENSG00000261519 tier1 79 0 0.00 17 16 48.48 EPHA3 0 genome.wustl.edu 37 3 89448604 89448604 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 89448604 89448604 A C SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1568 p.K523T 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 tier1 - - 51 0 0.00 18 12 40.00 ESF1 0 genome.wustl.edu 37 20 13740342 13740342 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 20 13740342 13740342 G T SNP ESF1 ENST00000202816 human ensembl 74_37 -1 known missense c.1825 p.P609T 1.000 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 tier1 - - 47 0 0.00 43 4 8.51 EVL 0 genome.wustl.edu 37 14 100594927 100594927 + Frame_Shift_Del DEL C C - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 14 100594927 100594927 C - DEL EVL ENST00000392920 human ensembl 74_37 +1 known frame_shift_del c.559 p.P189fs 1.000 pirsf_Vasodilator_phosphoprotein pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1 - no_errors EVL HGNC ENSG00000196405 tier1 77 0 0.00 45 12 21.05 EXOC2 0 genome.wustl.edu 37 6 572547 572547 + Silent SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 572547 572547 G T SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known silent c.1416 p.S472 0.095 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 tier1 - - 72 0 0.00 71 4 5.33 EXOC2 0 genome.wustl.edu 37 6 497386 497386 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 497386 497386 C T SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known missense c.2540 p.S847N 1.000 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 56 0 0.00 36 3 7.69 FAM104B 0 genome.wustl.edu 37 X 55172586 55172586 + Silent SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 55172586 55172586 G A SNP FAM104B ENST00000425133 human ensembl 74_37 -1 known silent c.282 p.S94 0.008 NULL NULL - no_errors FAM104B HGNC ENSG00000182518 42 0 0.00 36 3 7.69 FAM117A 0 genome.wustl.edu 37 17 47810056 47810056 + Nonsense_Mutation SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 47810056 47810056 C A SNP FAM117A ENST00000240364 human ensembl 74_37 -1 known nonsense c.223 p.E75* 1.000 NULL NULL - no_errors FAM117A HGNC ENSG00000121104 tier1 - - 39 0 0.00 19 11 36.67 FAM193B 0 genome.wustl.edu 37 5 176951252 176951252 + Missense_Mutation SNP A A T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 176951252 176951252 A T SNP FAM193B ENST00000443375 human ensembl 74_37 -1 known missense c.2131 p.L711M 0.037 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 tier1 - - 68 0 0.00 72 22 23.40 FAM217B 0 genome.wustl.edu 37 20 58519165 58519165 + Missense_Mutation SNP C C G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 20 58519165 58519165 C G SNP FAM217B ENST00000358293 human ensembl 74_37 +1 known missense c.167 p.A56G 0.000 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 tier1 - - 40 0 0.00 34 11 24.44 FAM47C 0 genome.wustl.edu 37 X 37026951 37026951 + Missense_Mutation SNP G G C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 37026951 37026951 G C SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.468 p.E156D 0.067 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 91 0 0.00 21 60 74.07 FAM63B 0 genome.wustl.edu 37 15 59064332 59064332 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 15 59064332 59064332 G T SNP FAM63B ENST00000559228 human ensembl 74_37 +1 known missense c.738 p.K246N 1.000 NULL pfam_DUF544 - no_errors FAM63B HGNC ENSG00000128923 tier1 - - 60 0 0.00 46 4 8.00 FAM71B 0 genome.wustl.edu 37 5 156590064 156590064 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 156590064 156590064 G T SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.1212 p.S404R 0.916 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 47 0 0.00 50 3 5.66 FBN2 0 genome.wustl.edu 37 5 127642855 127642855 + Silent SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 127642855 127642855 G T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.5394 p.T1798 1.000 pirsf_FBN,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 81 0 0.00 60 4 6.25 FBXL7 0 genome.wustl.edu 37 5 15936643 15936643 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 15936643 15936643 G A SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.824 p.R275H 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 41 0 0.00 32 2 5.88 FBXO21 0 genome.wustl.edu 37 12 117604812 117604812 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 117604812 117604812 C T SNP FBXO21 ENST00000330622 human ensembl 74_37 -1 known missense c.1084 p.E362K 1.000 superfamily_F-box_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 tier1 - - 81 0 0.00 6 13 68.42 FER1L6 0 genome.wustl.edu 37 8 125033831 125033831 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 8 125033831 125033831 G T SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.2055 p.Q685H 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 tier1 - - 62 0 0.00 67 4 5.63 FGD3 0 genome.wustl.edu 37 9 95772661 95772661 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 95772661 95772661 C T SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.971 p.A324V 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 43 0 0.00 36 2 5.26 FGFR4 0 genome.wustl.edu 37 5 176523718 176523718 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 176523718 176523718 G A SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.2129 p.R710Q 1.000 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 tier1 rs140492176 - 93 0 0.00 23 47 67.14 FIGNL1 0 genome.wustl.edu 37 7 50514642 50514642 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 50514642 50514642 A G SNP FIGNL1 ENST00000356889 human ensembl 74_37 -1 known missense c.344 p.V115A 0.952 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 tier1 - - 36 0 0.00 26 10 27.78 FIP1L1 0 genome.wustl.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 4 54319248 54319249 AG - DEL FIP1L1 ENST00000337488 human ensembl 74_37 +1 known frame_shift_del c.1447_1448 p.E486fs 0.975:0.991 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 tier1 40 0 0.00 35 4 10.26 FLG 0 genome.wustl.edu 37 1 152282747 152282747 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 152282747 152282747 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.4615 p.S1539R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 199 0 0.00 129 28 17.72 FLG2 0 genome.wustl.edu 37 1 152327672 152327672 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 152327672 152327672 T G SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.2590 p.S864R 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 161 0 0.00 123 25 16.89 FLJ45139 0 genome.wustl.edu 37 21 40250362 40250362 + RNA DEL A A - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 21 40250362 40250362 A - DEL FLJ45139 ENST00000380931 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AF064858.6 Clone_based_vega_gene ENSG00000205622 tier1 14 0 0.00 22 11 33.33 FLJ46361 0 genome.wustl.edu 37 10 124539665 124539665 + RNA SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 124539665 124539665 C T SNP FLJ46361 ENST00000439464 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors RP11-318C4.2 Clone_based_vega_gene ENSG00000176584 tier1 - - 97 0 0.00 65 4 5.80 FLRT2 0 genome.wustl.edu 37 14 86089605 86089605 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 14 86089605 86089605 C T SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1747 p.R583W 1.000 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 28 0 0.00 15 7 31.82 FREM1 0 genome.wustl.edu 37 9 14846024 14846024 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 14846024 14846024 C T SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.1330 p.D444N 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 tier1 - - 43 0 0.00 15 18 54.55 FREM3 0 genome.wustl.edu 37 4 144616997 144616997 + Missense_Mutation SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 4 144616997 144616997 T C SNP FREM3 ENST00000329798 human ensembl 74_37 -1 putative missense c.4832 p.D1611G 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 tier1 - - 30 0 0.00 24 11 31.43 FREM3 0 genome.wustl.edu 37 4 144620168 144620168 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 4 144620168 144620168 A C SNP FREM3 ENST00000329798 human ensembl 74_37 -1 putative missense c.1661 p.L554R 0.078 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 tier1 - - 68 0 0.00 30 16 34.78 FSIP2 0 genome.wustl.edu 37 2 186665416 186665416 + Missense_Mutation SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 186665416 186665416 C A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.11650 p.Q3884K 0.796 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 22 0 0.00 12 6 33.33 FTLP10 0 genome.wustl.edu 37 4 69048154 69048154 + RNA SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 4 69048154 69048154 G A SNP FTLP10 ENST00000503647 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FTLP10 HGNC ENSG00000250426 tier1 - - 121 0 0.00 43 23 34.85 FURIN 0 genome.wustl.edu 37 15 91420846 91420846 + Splice_Site SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 15 91420846 91420846 G A SNP FURIN ENST00000268171 human ensembl 74_37 +1 known splice_site c.667+1 e6+1 1.000 - - - no_errors FURIN HGNC ENSG00000140564 tier1 - - 34 0 0.00 37 7 15.91 FZD2 0 genome.wustl.edu 37 17 42635388 42635388 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 42635388 42635388 G A SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known missense c.332 p.R111H 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 53 0 0.00 38 2 5.00 GABRA1 0 genome.wustl.edu 37 5 161277886 161277886 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 161277886 161277886 A G SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.70 p.R24G 1.000 prints_GABBAa1_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 tier1 - - 55 0 0.00 30 11 26.83 GALNT13 0 genome.wustl.edu 37 2 154801092 154801092 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 154801092 154801092 T G SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known missense c.82 p.F28V 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 tier1 - - 83 0 0.00 34 33 49.25 GALNT18 0 genome.wustl.edu 37 11 11362428 11362428 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 11362428 11362428 C T SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.1216 p.A406T 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 tier1 - - 49 0 0.00 18 18 50.00 GCH1 0 genome.wustl.edu 37 14 55309802 55309802 + RNA SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 14 55309802 55309802 C T SNP GCH1 ENST00000254299 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GCH1 HGNC ENSG00000131979 tier1 - - 46 0 0.00 30 4 11.76 GDPD5 0 genome.wustl.edu 37 11 75148017 75148017 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 75148017 75148017 C T SNP GDPD5 ENST00000336898 human ensembl 74_37 -1 known missense c.1633 p.D545N 1.000 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD5 HGNC ENSG00000158555 tier1 - - 40 0 0.00 20 4 16.67 GLIPR1 0 genome.wustl.edu 37 12 75884283 75884283 + Missense_Mutation SNP G G C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 75884283 75884283 G C SNP GLIPR1 ENST00000266659 human ensembl 74_37 +1 known missense c.518 p.C173S 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1 HGNC ENSG00000139278 tier1 - - 75 0 0.00 13 23 63.89 GNA15 0 genome.wustl.edu 37 19 3151744 3151744 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 3151744 3151744 C T SNP GNA15 ENST00000262958 human ensembl 74_37 +1 known silent c.525 p.Y175 0.938 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC ENSG00000060558 46 0 0.00 30 2 6.25 GOLGA8T 0 genome.wustl.edu 37 15 30434527 30434527 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 15 30434527 30434527 A C SNP GOLGA8T ENST00000569052 human ensembl 74_37 +1 novel missense c.1142 p.N381T 1.000 NULL NULL - no_errors GOLGA8T HGNC ENSG00000261247 tier1 - - 79 0 0.00 42 13 23.64 GPATCH1 0 genome.wustl.edu 37 19 33585137 33585137 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 33585137 33585137 G T SNP GPATCH1 ENST00000170564 human ensembl 74_37 +1 known missense c.515 p.G172V 1.000 pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 109 0 0.00 65 4 5.80 GPR37L1 0 genome.wustl.edu 37 1 202097525 202097527 + In_Frame_Del DEL CTG CTG - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 202097525 202097527 CTG 0 DEL GPR37L1 ENST00000367282 human ensembl 74_37 +1 known in_frame_del c.1287_1289 p.C433in_frame_del 0.998:0.998:0.996 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37L1 HGNC ENSG00000170075 49 0 0.00 80 7 8.05 GPR83 0 genome.wustl.edu 37 11 94113737 94113737 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 94113737 94113737 G A SNP GPR83 ENST00000243673 human ensembl 74_37 -1 known missense c.850 p.R284W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC ENSG00000123901 tier1 rs200087801 - 36 0 0.00 12 10 45.45 GPRC5B 0 genome.wustl.edu 37 16 19873217 19873217 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 19873217 19873217 G A SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known missense c.1187 p.P396L 0.997 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 tier1 - - 48 0 0.00 29 12 29.27 GUCY1A2 0 genome.wustl.edu 37 11 106680878 106680878 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 106680878 106680878 T G SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known missense c.1533 p.Q511H 0.962 superfamily_A/G_cyclase,smart_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 tier1 - - 44 0 0.00 26 7 21.21 GYPB 0 genome.wustl.edu 37 4 144922415 144922415 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 4 144922415 144922415 A G SNP GYPB ENST00000283126 human ensembl 74_37 -1 known missense c.59 p.L20S 0.000 NULL pfam_Glycophorin - no_errors GYPB HGNC ENSG00000250361 tier1 - - 187 0 0.00 88 45 33.83 HBE1 0 genome.wustl.edu 37 11 5290750 5290750 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 5290750 5290750 C T SNP HBE1 ENST00000292896 human ensembl 74_37 -1 known silent c.249 p.K83 0.175 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBE1 HGNC ENSG00000213931 tier1 - - 121 0 0.00 27 44 61.97 HIP1R 0 genome.wustl.edu 37 12 123335423 123335423 + Frame_Shift_Del DEL A A - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 123335423 123335423 A - DEL HIP1R ENST00000253083 human ensembl 74_37 +1 known frame_shift_del c.480 p.L161fs 0.467 pfam_ANTH_dom pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1R HGNC ENSG00000130787 tier1 27 0 0.00 7 2 22.22 HIVEP2 0 genome.wustl.edu 37 6 143092548 143092548 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 143092548 143092548 G T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.3328 p.H1110N 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 55 0 0.00 73 4 5.19 HLA-G 0 genome.wustl.edu 37 6 29797279 29797279 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 29797279 29797279 C T SNP HLA-G ENST00000376828 human ensembl 74_37 +1 known missense c.719 p.A240V 0.292 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-G HGNC ENSG00000204632 tier1 rs147620137 - 107 0 0.00 26 93 78.15 HLA-J 0 genome.wustl.edu 37 6 29975966 29975967 + RNA INS - - C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 29975966 29975967 - C INS HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 0.073:0.011 - - - no_errors HLA-J HGNC ENSG00000204622 tier1 101 0 0.00 33 27 45.00 HMCN1 0 genome.wustl.edu 37 1 186086206 186086206 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 186086206 186086206 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.11642 p.G3881D 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 49 0 0.00 35 10 22.22 HMGB1P5 0 genome.wustl.edu 37 3 22423973 22423973 + RNA SNP T T A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 22423973 22423973 T A SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 tier1 - - 37 0 0.00 22 11 33.33 HMGB1P5 0 genome.wustl.edu 37 3 22424272 22424272 + RNA SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 22424272 22424272 T C SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors HMGB1P5 HGNC ENSG00000132967 31 0 0.00 22 3 12.00 HMGB1P5 0 genome.wustl.edu 37 3 22424293 22424293 + RNA SNP C C G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 22424293 22424293 C G SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors HMGB1P5 HGNC ENSG00000132967 27 0 0.00 22 3 12.00 HMGB4 0 genome.wustl.edu 37 1 34330011 34330011 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 34330011 34330011 A C SNP HMGB4 ENST00000519684 human ensembl 74_37 +1 known missense c.219 p.E73D 0.782 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB4 HGNC ENSG00000176256 tier1 - - 38 0 0.00 19 16 45.71 HMGB4 0 genome.wustl.edu 37 1 34330225 34330225 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 34330225 34330225 A G SNP HMGB4 ENST00000519684 human ensembl 74_37 +1 known missense c.433 p.R145G 0.881 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB4 HGNC ENSG00000176256 tier1 - - 34 0 0.00 25 7 21.88 HPGDS 0 genome.wustl.edu 37 4 95223334 95223334 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 4 95223334 95223334 G A SNP HPGDS ENST00000295256 human ensembl 74_37 -1 known missense c.398 p.T133I 0.092 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors HPGDS HGNC ENSG00000163106 tier1 - - 65 0 0.00 31 16 34.04 HS1BP3 0 genome.wustl.edu 37 2 20838373 20838373 + Missense_Mutation SNP T T A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 20838373 20838373 T A SNP HS1BP3 ENST00000304031 human ensembl 74_37 -1 known missense c.446 p.D149V 0.217 superfamily_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors HS1BP3 HGNC ENSG00000118960 tier1 - - 56 0 0.00 29 8 21.05 HS6ST2 0 genome.wustl.edu 37 X 132090940 132090940 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 132090940 132090940 G T SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known missense c.843 p.F281L 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 tier1 - - 28 0 0.00 7 29 80.56 IMPG2 0 genome.wustl.edu 37 3 100976494 100976494 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 100976494 100976494 T G SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.1032 p.K344N 0.968 smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 tier1 rs34375459 - 43 0 0.00 5 12 70.59 IPP 0 genome.wustl.edu 37 1 46193439 46193439 + Nonsense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 46193439 46193439 C T SNP IPP ENST00000396478 human ensembl 74_37 -1 known nonsense c.912 p.W304* 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IPP HGNC ENSG00000197429 tier1 - - 46 0 0.00 18 10 35.71 ITGAX 0 genome.wustl.edu 37 16 31374554 31374554 + Silent SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 31374554 31374554 G A SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.1569 p.A523 0.025 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 tier1 rs144979651 - 137 0 0.00 102 48 31.79 ITGAX 0 genome.wustl.edu 37 16 31391152 31391152 + Silent SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 31391152 31391152 T C SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.2943 p.A981 0.038 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 tier1 - - 57 0 0.00 37 15 28.85 ITK 0 genome.wustl.edu 37 5 156608051 156608051 + Silent SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 156608051 156608051 T G SNP ITK ENST00000422843 human ensembl 74_37 +1 known silent c.63 p.T21 0.628 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 tier1 - - 58 0 0.00 33 4 10.81 ITK 0 genome.wustl.edu 37 5 156671346 156671346 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 156671346 156671346 A C SNP ITK ENST00000422843 human ensembl 74_37 +1 known missense c.1307 p.E436A 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 tier1 - - 44 0 0.00 23 5 17.86 IVL 0 genome.wustl.edu 37 1 152883121 152883121 + Missense_Mutation SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 152883121 152883121 T C SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.848 p.L283P 0.000 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 208 0 0.00 106 22 17.05 IVL 0 genome.wustl.edu 37 1 152882878 152882878 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 152882878 152882878 A G SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.605 p.Q202R 0.000 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 53 0 0.00 47 3 6.00 KAT6B 0 genome.wustl.edu 37 10 76790462 76790462 + Silent SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 76790462 76790462 G A SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known silent c.5880 p.T1960 0.131 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 tier1 rs200498444 - 36 0 0.00 21 15 41.67 KCNA1 0 genome.wustl.edu 37 12 5021359 5021359 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 5021359 5021359 A G SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.815 p.E272G 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 tier1 - - 45 0 0.00 23 9 28.12 KCNA3 0 genome.wustl.edu 37 1 111216923 111216923 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 111216923 111216923 C T SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.509 p.R170H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 tier1 - - 131 0 0.00 79 19 19.39 KCNQ3 0 genome.wustl.edu 37 8 133187785 133187785 + Missense_Mutation SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 8 133187785 133187785 T C SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.848 p.E283G 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 64 0 0.00 42 20 32.26 KCNU1 0 genome.wustl.edu 37 8 36671732 36671732 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 8 36671732 36671732 A C SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.740 p.N247T 1.000 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 tier1 - - 75 0 0.00 38 27 41.54 KCTD15 0 genome.wustl.edu 37 19 34292163 34292163 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 34292163 34292163 A C SNP KCTD15 ENST00000430256 human ensembl 74_37 +1 known missense c.158 p.K53T 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD15 HGNC ENSG00000153885 tier1 - - 68 0 0.00 54 17 23.94 KIAA1429 0 genome.wustl.edu 37 8 95501071 95501071 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 8 95501071 95501071 G A SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.5302 p.R1768W 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 tier1 - - 22 0 0.00 10 8 44.44 KIF2B 0 genome.wustl.edu 37 17 51901450 51901450 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 51901450 51901450 C T SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known silent c.1056 p.V352 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 - - 22 0 0.00 17 4 19.05 KIF4B 0 genome.wustl.edu 37 5 154395563 154395563 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 154395563 154395563 A C SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.2144 p.K715T 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 tier1 - - 83 0 0.00 23 27 54.00 KLRC3 0 genome.wustl.edu 37 12 10572176 10572176 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 10572176 10572176 A C SNP KLRC3 ENST00000381904 human ensembl 74_37 -1 known missense c.303 p.N101K 0.000 pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC3 HGNC ENSG00000205810 tier1 - - 103 0 0.00 100 26 20.63 KLRD1 0 genome.wustl.edu 37 12 10464127 10464127 + Silent SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 10464127 10464127 C A SNP KLRD1 ENST00000381908 human ensembl 74_37 +1 known silent c.228 p.S76 0.067 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 - no_errors KLRD1 HGNC ENSG00000134539 80 0 0.00 43 3 6.52 KMT2E 0 genome.wustl.edu 37 7 104748371 104748371 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 104748371 104748371 A G SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.3467 p.K1156R 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 - - 59 0 0.00 34 4 10.53 LAD1 0 genome.wustl.edu 37 1 201355983 201355984 + Frame_Shift_Del DEL CT CT - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 201355983 201355984 CT - DEL LAD1 ENST00000367313 human ensembl 74_37 -1 known frame_shift_del c.548_547 p.R183fs 0.000:0.000 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 tier1 25 0 0.00 16 4 20.00 LAMA2 0 genome.wustl.edu 37 6 129581967 129581967 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 129581967 129581967 A C SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.2208 p.E736D 1.000 pfam_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 39 0 0.00 36 19 34.55 LAMA2 0 genome.wustl.edu 37 6 129837421 129837421 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 129837421 129837421 C T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.9298 p.P3100S 0.896 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 86 0 0.00 38 34 47.22 LAMA4 0 genome.wustl.edu 37 6 112521374 112521374 + RNA SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 112521374 112521374 A C SNP LAMA4 ENST00000423735 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LAMA4 HGNC ENSG00000112769 tier1 - - 37 0 0.00 16 8 33.33 LCE1B 0 genome.wustl.edu 37 1 152785167 152785167 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 152785167 152785167 G A SNP LCE1B ENST00000360090 human ensembl 74_37 +1 known missense c.245 p.R82H 0.020 NULL NULL - no_errors LCE1B HGNC ENSG00000196734 tier1 - - 107 0 0.00 85 17 16.67 LINC00176 0 genome.wustl.edu 37 20 62669225 62669225 + RNA SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 20 62669225 62669225 C T SNP LINC00176 ENST00000431158 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00176 HGNC ENSG00000196421 83 0 0.00 67 5 6.94 LINC00238 0 genome.wustl.edu 37 14 66958769 66958769 + Splice_Site SNP A A T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 14 66958769 66958769 A T SNP LINC00238 ENST00000359454 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.970 - - - no_errors LINC00238 HGNC ENSG00000196553 tier1 - - 48 0 0.00 40 11 21.57 LINC00839 0 genome.wustl.edu 37 10 42982441 42982441 + RNA SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 42982441 42982441 G A SNP LINC00839 ENST00000424751 human ensembl 74_37 +1 known rna NULL NULL 0.064 - - - no_errors LINC00839 HGNC ENSG00000185904 tier1 - - 41 0 0.00 19 4 17.39 LOC101926969 0 genome.wustl.edu 37 2 91768861 91768861 + RNA SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 91768861 91768861 C A SNP LOC101926969 ENST00000567067 human ensembl 74_37 +1 known rna NULL NULL 0.798 - - - no_errors RP11-575H3.1 Clone_based_vega_gene ENSG00000261600 tier1 - - 141 0 0.00 103 16 13.45 LOC286467 0 genome.wustl.edu 37 X 130929839 130929839 + RNA SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 130929839 130929839 G T SNP LOC286467 ENST00000427391 human ensembl 74_37 -1 known rna NULL NULL 0.555 - - - no_errors RP11-453F18__B.1 Clone_based_vega_gene ENSG00000213468 tier1 - - 25 0 0.00 12 3 20.00 LOC440518 0 genome.wustl.edu 37 19 22782991 22782991 + RNA SNP C C G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 22782991 22782991 C G SNP LOC440518 ENST00000597408 human ensembl 74_37 +1 known rna NULL NULL 0.583 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 tier1 - - 136 0 0.00 53 37 41.11 LOC441666 0 genome.wustl.edu 37 10 42833270 42833270 + RNA SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 42833270 42833270 A G SNP LOC441666 ENST00000609034 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 - - 185 0 0.00 110 83 43.01 LOXHD1 0 genome.wustl.edu 37 18 44140204 44140204 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 18 44140204 44140204 T G SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known missense c.2903 p.E968A 1.000 NULL pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 48 0 0.00 8 13 61.90 LOXL2 0 genome.wustl.edu 37 8 23155605 23155605 + Frame_Shift_Del DEL T T - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 8 23155605 23155605 T - DEL LOXL2 ENST00000389131 human ensembl 74_37 -1 known frame_shift_del c.2276 p.K759fs 0.994 NULL pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 tier1 53 0 0.00 28 2 6.67 LRP4 0 genome.wustl.edu 37 11 46900815 46900815 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 46900815 46900815 C T SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.2866 p.E956K 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 tier1 - - 48 0 0.00 34 4 10.53 LRRIQ4 0 genome.wustl.edu 37 3 169540181 169540181 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 169540181 169540181 C T SNP LRRIQ4 ENST00000340806 human ensembl 74_37 +1 known missense c.472 p.P158S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 tier1 - - 53 0 0.00 59 4 6.35 LRRK1 0 genome.wustl.edu 37 15 101549050 101549050 + Silent SNP T T A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 15 101549050 101549050 T A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known silent c.771 p.R257 0.591 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 28 0 0.00 38 4 9.52 LRRN3 0 genome.wustl.edu 37 7 110763556 110763556 + Missense_Mutation SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 110763556 110763556 T C SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.728 p.F243S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 tier1 - - 64 0 0.00 24 8 25.00 LSM14A 0 genome.wustl.edu 37 19 34706131 34706131 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 34706131 34706131 G T SNP LSM14A ENST00000433627 human ensembl 74_37 +1 known missense c.641 p.R214I 1.000 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14A HGNC ENSG00000257103 tier1 - - 67 0 0.00 96 11 10.28 MALAT1 0 genome.wustl.edu 37 11 65270090 65270091 + RNA INS - - T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 65270090 65270091 - T INS MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.929:0.911 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 45 0 0.00 26 6 18.75 MAP2 0 genome.wustl.edu 37 2 210561678 210561678 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 210561678 210561678 A C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.4425 p.E1475D 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 42 0 0.00 35 13 27.08 MAT1A 0 genome.wustl.edu 37 10 82036155 82036155 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 82036155 82036155 G A SNP MAT1A ENST00000372213 human ensembl 74_37 -1 known missense c.745 p.R249W 1.000 pfam_S-AdoMet_synt_central,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT1A HGNC ENSG00000151224 tier1 - - 36 0 0.00 3 19 86.36 MATN3 0 genome.wustl.edu 37 2 20205632 20205632 + Silent SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 20205632 20205632 G A SNP MATN3 ENST00000407540 human ensembl 74_37 -1 known silent c.663 p.G221 0.016 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN3 HGNC ENSG00000132031 tier1 - - 74 0 0.00 25 14 35.00 MCCC1 0 genome.wustl.edu 37 3 182737954 182737954 + Silent SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 182737954 182737954 G T SNP MCCC1 ENST00000265594 human ensembl 74_37 -1 known silent c.1941 p.G647 0.180 superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors MCCC1 HGNC ENSG00000078070 38 0 0.00 37 2 5.13 MCF2L 0 genome.wustl.edu 37 13 113634042 113634042 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 13 113634042 113634042 C T SNP MCF2L ENST00000375601 human ensembl 74_37 +1 known missense c.61 p.R21C 0.073 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 192 0 0.00 93 6 6.00 MDGA2 0 genome.wustl.edu 37 14 47311204 47311204 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 14 47311204 47311204 A C SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.3008 p.V1003G 1.000 NULL pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 68 0 0.00 29 20 40.82 MINK1 0 genome.wustl.edu 37 17 4800531 4800531 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 4800531 4800531 C T SNP MINK1 ENST00000355280 human ensembl 74_37 +1 known silent c.3948 p.S1316 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MINK1 HGNC ENSG00000141503 tier1 - - 77 0 0.00 53 4 7.02 MIR181B1 0 genome.wustl.edu 37 1 198828087 198828087 + RNA SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 198828087 198828087 T C SNP MIR181B1 ENST00000385240 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR181B1 HGNC ENSG00000207975 70 0 0.00 65 4 5.80 MIR296 0 genome.wustl.edu 37 20 57392495 57392495 + RNA SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 20 57392495 57392495 A C SNP MIR296 ENST00000596276 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR296 HGNC ENSG00000268649 tier1 - - 34 0 0.00 19 13 40.62 MMP25 0 genome.wustl.edu 37 16 3100089 3100089 + Silent SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 3100089 3100089 G T SNP MMP25 ENST00000336577 human ensembl 74_37 +1 known silent c.312 p.R104 0.003 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP25 HGNC ENSG00000008516 tier1 rs143114141 - 75 0 0.00 48 15 23.81 MN1 0 genome.wustl.edu 37 22 28194934 28194936 + In_Frame_Del DEL TGC TGC - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 22 28194934 28194936 TGC - DEL MN1 ENST00000302326 human ensembl 74_37 -1 known in_frame_del c.1598_1596 p.Q536in_frame_del 1.000:1.000:0.998 NULL NULL - no_errors MN1 HGNC ENSG00000169184 tier1 45 0 0.00 33 4 10.81 MOCOS 0 genome.wustl.edu 37 18 33779985 33779985 + Silent SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 18 33779985 33779985 G T SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known silent c.639 p.L213 0.061 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 49 0 0.00 19 2 9.52 MPDZ 0 genome.wustl.edu 37 9 13205984 13205984 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 13205984 13205984 C T SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.1405 p.E469K 0.177 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 58 0 0.00 27 2 6.90 MROH2A 0 genome.wustl.edu 37 2 234710881 234710881 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 234710881 234710881 G A SNP MROH2A ENST00000389758 human ensembl 74_37 +1 novel missense c.1628 p.C543Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2A HGNC ENSG00000185038 tier1 - - 54 0 0.00 44 4 8.33 MROH9 0 genome.wustl.edu 37 1 170965775 170965775 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 170965775 170965775 T G SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known missense c.1465 p.F489V 0.009 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 tier1 - - 66 0 0.00 60 10 14.29 MRPL39 0 genome.wustl.edu 37 21 26965201 26965201 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 21 26965201 26965201 C T SNP MRPL39 ENST00000307301 human ensembl 74_37 -1 known missense c.844 p.A282T 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_TGS-like - no_errors MRPL39 HGNC ENSG00000154719 tier1 - - 66 0 0.00 47 4 7.84 MSH3 0 genome.wustl.edu 37 5 79966124 79966124 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 79966124 79966124 C T SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known missense c.788 p.A263V 1.000 pfam_DNA_mismatch_repair_MutS-lik_N,superfamily_DNA_mismatch_repair_MutS_N pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 - - 38 0 0.00 21 3 12.50 MUC15 0 genome.wustl.edu 37 11 26582672 26582672 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 26582672 26582672 T G SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known missense c.1026 p.E342D 0.545 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 tier1 - - 66 0 0.00 28 18 39.13 MYCBP2 0 genome.wustl.edu 37 13 77636817 77636817 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 13 77636817 77636817 C T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.12688 p.A4230T 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 47 0 0.00 48 3 5.88 MYH2 0 genome.wustl.edu 37 17 10426981 10426981 + Silent SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 10426981 10426981 G A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.5304 p.A1768 0.061 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 tier1 - - 110 0 0.00 18 52 73.24 MYOM1 0 genome.wustl.edu 37 18 3067396 3067396 + Nonsense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 18 3067396 3067396 G T SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known nonsense c.4922 p.S1641* 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 56 0 0.00 40 4 9.09 NACA 0 genome.wustl.edu 37 12 57106968 57106968 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 57106968 57106968 C T SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.5977 p.D1993N 1.000 pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 tier1 - - 84 0 0.00 52 37 41.57 NADK 0 genome.wustl.edu 37 1 1688592 1688594 + In_Frame_Del DEL AGG AGG - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 1688592 1688594 AGG 0 DEL NADK ENST00000344463 human ensembl 74_37 -1 known in_frame_del c.733_731 p.AW244in_frame_delG 0.001:0.002:0.002 NULL pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 35 0 0.00 48 7 12.73 NBEA 0 genome.wustl.edu 37 13 35615243 35615243 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 13 35615243 35615243 A C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.468 p.E156D 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 66 0 0.00 45 21 31.82 NCAM1 0 genome.wustl.edu 37 11 113144211 113144211 + RNA SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 113144211 113144211 G A SNP NCAM1 ENST00000528158 human ensembl 74_37 +1 putative rna NULL NULL 0.009 - - - no_errors NCAM1 HGNC ENSG00000149294 tier1 - - 42 0 0.00 10 12 54.55 NCAPD3 0 genome.wustl.edu 37 11 134048529 134048529 + Missense_Mutation SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 134048529 134048529 C A SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.2782 p.G928C 1.000 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 tier1 - - 38 0 0.00 33 4 10.81 NCAPD3 0 genome.wustl.edu 37 11 134078847 134078848 + Splice_Site INS - - A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 134078847 134078848 - A INS NCAPD3 ENST00000534548 human ensembl 74_37 -1 known splice_site_ins c.795-3_795-2 e7-2 1.000:0.997 - - - no_errors NCAPD3 HGNC ENSG00000151503 tier1 56 0 0.00 29 3 9.38 NCKAP5 0 genome.wustl.edu 37 2 133543120 133543120 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 133543120 133543120 T G SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.1264 p.T422P 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 52 0 0.00 22 23 51.11 NDN 0 genome.wustl.edu 37 15 23931967 23931967 + Missense_Mutation SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 15 23931967 23931967 T C SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.398 p.K133R 1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 tier1 - - 52 0 0.00 22 5 18.52 NF1 0 genome.wustl.edu 37 17 29528504 29528504 + Splice_Site SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 29528504 29528504 G T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known splice_site c.1260+1 e11+1 1.000 - - - no_errors NF1 HGNC ENSG00000196712 26 0 0.00 36 2 5.26 NFAM1 0 genome.wustl.edu 37 22 42783038 42783038 + Missense_Mutation SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 22 42783038 42783038 T C SNP NFAM1 ENST00000329021 human ensembl 74_37 -1 known missense c.710 p.E237G 0.018 pfscan_Phos_immunorcpt_sig_ITAM pfscan_Phos_immunorcpt_sig_ITAM - no_errors NFAM1 HGNC ENSG00000235568 tier1 - - 62 0 0.00 49 4 7.55 NFX1 0 genome.wustl.edu 37 9 33364102 33364102 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 33364102 33364102 G A SNP NFX1 ENST00000379540 human ensembl 74_37 +1 known missense c.2968 p.A990T 1.000 smart_R3H_ss-bd pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 tier1 - - 47 0 0.00 18 9 33.33 NIPBL 0 genome.wustl.edu 37 5 36984883 36984883 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 36984883 36984883 G A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.1601 p.G534E 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 85 0 0.00 52 14 21.21 NLRP1 0 genome.wustl.edu 37 17 5456834 5456834 + Silent SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 5456834 5456834 G A SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known silent c.2400 p.L800 0.909 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 tier1 - - 56 0 0.00 43 19 30.65 NME8 0 genome.wustl.edu 37 7 37927917 37927917 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 37927917 37927917 A C SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.1286 p.N429T 1.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 tier1 - - 44 0 0.00 16 18 52.94 NOVA1 0 genome.wustl.edu 37 14 27064693 27064693 + Missense_Mutation SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 14 27064693 27064693 C A SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known missense c.203 p.G68V 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 tier1 - - 60 0 0.00 31 11 26.19 NOX3 0 genome.wustl.edu 37 6 155775963 155775963 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 155775963 155775963 G T SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known missense c.237 p.F79L 0.954 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 31 0 0.00 20 2 9.09 NPS 0 genome.wustl.edu 37 10 129350824 129350824 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 129350824 129350824 A C SNP NPS ENST00000398023 human ensembl 74_37 +1 known missense c.191 p.K64T 0.616 NULL NULL - no_errors NPS HGNC ENSG00000214285 tier1 - - 41 0 0.00 29 18 38.30 NR3C1 0 genome.wustl.edu 37 5 142689724 142689724 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 142689724 142689724 C T SNP NR3C1 ENST00000231509 human ensembl 74_37 -1 known missense c.1409 p.R470Q 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR3C1 HGNC ENSG00000113580 tier1 - - 59 0 0.00 20 3 13.04 NRG1 0 genome.wustl.edu 37 8 32463100 32463100 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 8 32463100 32463100 A C SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.299 p.N100T 0.004 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 51 0 0.00 14 17 54.84 NRXN1 0 genome.wustl.edu 37 2 50779806 50779806 + Missense_Mutation SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 50779806 50779806 T C SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.1654 p.T552A 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,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 25 0 0.00 16 15 48.39 NSD1 0 genome.wustl.edu 37 5 176562826 176562826 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 176562826 176562826 G T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.722 p.R241I 1.000 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 37 0 0.00 37 2 5.13 NTM 0 genome.wustl.edu 37 11 132205624 132205624 + RNA DEL T T - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 132205624 132205624 T - DEL NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NTM HGNC ENSG00000182667 tier1 12 0 0.00 18 3 14.29 OLFM4 0 genome.wustl.edu 37 13 53624487 53624487 + Missense_Mutation SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 13 53624487 53624487 C A SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known missense c.1114 p.R372S 1.000 pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 tier1 - - 64 0 0.00 29 12 29.27 OR10R2 0 genome.wustl.edu 37 1 158450322 158450322 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 158450322 158450322 A G SNP OR10R2 ENST00000368152 human ensembl 74_37 +1 known missense c.655 p.I219V 0.169 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10R2 HGNC ENSG00000198965 tier1 - - 66 0 0.00 70 14 16.67 OR13C3 0 genome.wustl.edu 37 9 107298746 107298746 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 107298746 107298746 A G SNP OR13C3 ENST00000374781 human ensembl 74_37 -1 known missense c.349 p.S117P 0.224 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C3 HGNC ENSG00000204246 tier1 - - 70 0 0.00 34 24 41.38 OR13D1 0 genome.wustl.edu 37 9 107456708 107456708 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 107456708 107456708 C T SNP OR13D1 ENST00000318763 human ensembl 74_37 +1 known silent c.6 p.Y2 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13D1 HGNC ENSG00000179055 60 0 0.00 36 3 7.69 OR1C1 0 genome.wustl.edu 37 1 247921558 247921558 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 247921558 247921558 A C SNP OR1C1 ENST00000408896 human ensembl 74_37 -1 known missense c.151 p.F51V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1C1 HGNC ENSG00000221888 tier1 - - 31 0 0.00 10 25 71.43 OR2A1 0 genome.wustl.edu 37 7 144015564 144015564 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 144015564 144015564 T G SNP OR2A1 ENST00000408951 human ensembl 74_37 +1 known missense c.347 p.L116R 0.803 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A1 HGNC ENSG00000221970 tier1 - - 81 0 0.00 37 19 33.93 OR52A5 0 genome.wustl.edu 37 11 5153418 5153418 + Missense_Mutation SNP A A T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 5153418 5153418 A T SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known missense c.455 p.L152H 0.008 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 tier1 - - 58 0 0.00 28 26 48.15 OR52K2 0 genome.wustl.edu 37 11 4471059 4471059 + Missense_Mutation SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 4471059 4471059 C A SNP OR52K2 ENST00000325719 human ensembl 74_37 +1 known missense c.490 p.L164M 0.412 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K2 HGNC ENSG00000181963 tier1 - - 86 0 0.00 57 20 25.97 OR5K3 0 genome.wustl.edu 37 3 98109656 98109656 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 98109656 98109656 T G SNP OR5K3 ENST00000383695 human ensembl 74_37 +1 known missense c.147 p.I49M 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K3 HGNC ENSG00000206536 tier1 - - 117 0 0.00 25 35 58.33 OR5P3 0 genome.wustl.edu 37 11 7847434 7847434 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 7847434 7847434 A C SNP OR5P3 ENST00000328375 human ensembl 74_37 -1 known missense c.86 p.L29R 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P3 HGNC ENSG00000182334 tier1 - - 26 0 0.00 9 8 47.06 OR5T1 0 genome.wustl.edu 37 11 56043855 56043855 + Silent SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 56043855 56043855 A G SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known silent c.741 p.R247 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 tier1 - - 77 0 0.00 39 47 54.65 OR5V1 0 genome.wustl.edu 37 6 29323840 29323840 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 29323840 29323840 T G SNP OR5V1 ENST00000377154 human ensembl 74_37 -1 known missense c.133 p.I45L 0.132 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5V1 HGNC ENSG00000243729 tier1 - - 47 0 0.00 5 21 80.77 OR6T1 0 genome.wustl.edu 37 11 123813642 123813642 + Nonsense_Mutation SNP T T A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 123813642 123813642 T A SNP OR6T1 ENST00000321252 human ensembl 74_37 -1 known nonsense c.904 p.R302* 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 tier1 - - 67 0 0.00 27 14 34.15 OR6Y1 0 genome.wustl.edu 37 1 158517216 158517216 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 158517216 158517216 A C SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.680 p.L227R 0.669 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 tier1 - - 54 0 0.00 41 8 16.33 OR8D2 0 genome.wustl.edu 37 11 124189725 124189725 + Nonsense_Mutation SNP A A T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 124189725 124189725 A T SNP OR8D2 ENST00000357438 human ensembl 74_37 -1 known nonsense c.369 p.Y123* 0.965 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC ENSG00000197263 40 0 0.00 24 2 7.69 OTOF 0 genome.wustl.edu 37 2 26724638 26724638 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 26724638 26724638 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.749 p.R250Q 1.000 superfamily_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 76 0 0.00 54 14 20.59 PCDH11X 0 genome.wustl.edu 37 X 91132816 91132816 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 91132816 91132816 A C SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.1577 p.K526T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 30 0 0.00 2 32 94.12 PCDH18 0 genome.wustl.edu 37 4 138451944 138451944 + Missense_Mutation SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 4 138451944 138451944 C A SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.1299 p.L433F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 tier1 - - 46 0 0.00 24 18 42.86 PCDH18 0 genome.wustl.edu 37 4 138452917 138452917 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 4 138452917 138452917 T G SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.326 p.D109A 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 tier1 - - 89 0 0.00 34 30 46.88 PCLO 0 genome.wustl.edu 37 7 82390054 82390055 + Frame_Shift_Ins INS - - T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 82390054 82390055 - T INS PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_ins c.15189_15188 p.V5064fs 1.000:1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 64 0 0.00 23 10 30.30 PEG3 0 genome.wustl.edu 37 19 57325534 57325534 + Missense_Mutation SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 57325534 57325534 C A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.4276 p.D1426Y 0.784 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 93 0 0.00 28 27 49.09 PEG3 0 genome.wustl.edu 37 19 57326873 57326873 + Silent SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 57326873 57326873 A G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.2937 p.A979 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 88 0 0.00 30 16 34.78 PHKA2 0 genome.wustl.edu 37 X 18917322 18917322 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 18917322 18917322 G A SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.3080 p.A1027V 0.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 tier1 - - 32 0 0.00 15 10 40.00 PIK3AP1 0 genome.wustl.edu 37 10 98408575 98408575 + Frame_Shift_Del DEL A A - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 98408575 98408575 A - DEL PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known frame_shift_del c.1026 p.F342fs 1.000 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 tier1 65 0 0.00 29 2 6.45 PKD1L1 0 genome.wustl.edu 37 7 47944879 47944880 + Frame_Shift_Del DEL TG TG - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 47944879 47944880 TG - DEL PKD1L1 ENST00000289672 human ensembl 74_37 -1 known frame_shift_del c.1566_1565 p.T522fs 0.001:0.001 smart_PKD/Chitinase_dom pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 tier1 54 0 0.00 44 6 12.00 PKHD1 0 genome.wustl.edu 37 6 51924834 51924834 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 51924834 51924834 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.1125 p.R375 1.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 51 0 0.00 24 2 7.69 PKMYT1 0 genome.wustl.edu 37 16 3024061 3024061 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 3024061 3024061 G A SNP PKMYT1 ENST00000262300 human ensembl 74_37 -1 known missense c.1250 p.P417L 0.920 pirsf_Tyr/Thr_kinase_Cdc2_inhib pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom - no_errors PKMYT1 HGNC ENSG00000127564 tier1 - - 45 0 0.00 38 18 32.14 PKNOX2 0 genome.wustl.edu 37 11 125301355 125301355 + RNA SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 125301355 125301355 G A SNP PKNOX2 ENST00000530517 human ensembl 74_37 +1 known rna NULL NULL 0.616 - - - no_errors PKNOX2 HGNC ENSG00000165495 tier1 - - 12 0 0.00 9 5 35.71 PKP4 0 genome.wustl.edu 37 2 159514662 159514662 + Silent SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 159514662 159514662 C A SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known silent c.1929 p.S643 0.993 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 tier1 - - 43 0 0.00 53 17 24.29 PLXDC2 0 genome.wustl.edu 37 10 20568836 20568836 + RNA SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 20568836 20568836 C A SNP PLXDC2 ENST00000377238 human ensembl 74_37 +1 known rna NULL NULL 0.220 - - - no_errors PLXDC2 HGNC ENSG00000120594 tier1 - - 25 0 0.00 10 13 56.52 PLXNC1 0 genome.wustl.edu 37 12 94562964 94562964 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 94562964 94562964 C T SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known silent c.1098 p.I366 0.700 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 tier1 - - 120 0 0.00 26 50 65.79 POTEG 0 genome.wustl.edu 37 14 19563512 19563512 + Silent SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 14 19563512 19563512 A G SNP POTEG ENST00000409832 human ensembl 74_37 +1 known silent c.1026 p.R342 0.002 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 tier1 - - 1002 0 0.00 462 62 11.81 PPP1R17 0 genome.wustl.edu 37 7 31735172 31735172 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 31735172 31735172 T G SNP PPP1R17 ENST00000342032 human ensembl 74_37 +1 known missense c.172 p.S58A 0.692 NULL NULL - no_errors PPP1R17 HGNC ENSG00000106341 tier1 - - 45 0 0.00 24 18 42.86 PREX2 0 genome.wustl.edu 37 8 69005845 69005845 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 8 69005845 69005845 T G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2256 p.D752E 0.994 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 72 0 0.00 14 24 63.16 PREX2 0 genome.wustl.edu 37 8 69031715 69031715 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 8 69031715 69031715 A C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.3470 p.K1157T 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 37 0 0.00 37 4 9.76 PRLR 0 genome.wustl.edu 37 5 35086442 35086442 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 35086442 35086442 C T SNP PRLR ENST00000382002 human ensembl 74_37 -1 known missense c.71 p.G24E 1.000 superfamily_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 tier1 - - 88 0 0.00 51 11 17.74 PTBP1 0 genome.wustl.edu 37 19 804119 804119 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 804119 804119 C T SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.199 p.P67S 0.996 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 tier1 - - 64 0 0.00 60 4 6.25 PTCRA 0 genome.wustl.edu 37 6 42889966 42889966 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 42889966 42889966 C T SNP PTCRA ENST00000441198 human ensembl 74_37 +1 known silent c.69 p.S23 0.002 NULL NULL - no_errors PTCRA HGNC ENSG00000171611 35 0 0.00 57 4 6.56 PTPRD 0 genome.wustl.edu 37 9 8331729 8331729 + Missense_Mutation SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 8331729 8331729 T C SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.5387 p.Q1796R 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 46 0 0.00 13 19 59.38 PTPRQ 0 genome.wustl.edu 37 12 81009998 81009998 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 81009998 81009998 C T SNP PTPRQ ENST00000266688 human ensembl 74_37 +1 known missense c.5171 p.A1724V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 tier1 - - 50 0 0.00 63 4 5.97 PTPRQ 0 genome.wustl.edu 37 12 81043443 81043443 + Missense_Mutation SNP T T A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 81043443 81043443 T A SNP PTPRQ ENST00000266688 human ensembl 74_37 +1 known missense c.6007 p.F2003I 1.000 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 tier1 - - 38 0 0.00 29 11 27.50 PZP 0 genome.wustl.edu 37 12 9312993 9312993 + Missense_Mutation SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 9312993 9312993 T C SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.2966 p.N989S 1.000 pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 tier1 - - 65 0 0.00 39 22 36.07 QRICH2 0 genome.wustl.edu 37 17 74277968 74277969 + Frame_Shift_Ins INS - - A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 74277968 74277969 - A INS QRICH2 ENST00000262765 human ensembl 74_37 -1 known frame_shift_ins c.3742_3741 p.K1247fs 1.000:0.999 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 tier1 49 0 0.00 15 2 11.76 RAB13 0 genome.wustl.edu 37 1 153955602 153955602 + RNA DEL A A - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 153955602 153955602 A - DEL RAB13 ENST00000462680 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors RAB13 HGNC ENSG00000143545 tier1 14 0 0.00 18 5 21.74 RAB5C 0 genome.wustl.edu 37 17 40282413 40282413 + Silent SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 40282413 40282413 G A SNP RAB5C ENST00000346213 human ensembl 74_37 -1 known silent c.108 p.S36 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB5C HGNC ENSG00000108774 tier1 - - 57 0 0.00 47 4 7.55 RDX 0 genome.wustl.edu 37 11 110134916 110134916 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 110134916 110134916 T G SNP RDX ENST00000530749 human ensembl 74_37 -1 known missense c.236 p.K79T 1.000 pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 tier1 - - 55 0 0.00 40 19 32.20 REPS2 0 genome.wustl.edu 37 X 17080642 17080642 + Missense_Mutation SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 17080642 17080642 T C SNP REPS2 ENST00000357277 human ensembl 74_37 +1 known missense c.1196 p.L399S 0.984 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS2 HGNC ENSG00000169891 tier1 - - 39 0 0.00 32 3 8.57 RGMB 0 genome.wustl.edu 37 5 98129163 98129163 + Silent SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 98129163 98129163 C A SNP RGMB ENST00000308234 human ensembl 74_37 +1 known silent c.1143 p.T381 0.000 pfam_RGM_C pfam_RGM_C,pfam_RGM_N - no_errors RGMB HGNC ENSG00000174136 tier1 - - 18 0 0.00 9 5 35.71 RIMBP2 0 genome.wustl.edu 37 12 130907016 130907016 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 130907016 130907016 C T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.2452 p.V818M 0.019 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 - - 48 0 0.00 4 10 71.43 RIMKLB 0 genome.wustl.edu 37 12 8902671 8902671 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 8902671 8902671 C T SNP RIMKLB ENST00000357529 human ensembl 74_37 +1 known missense c.389 p.P130L 1.000 pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC ENSG00000166532 75 0 0.00 39 3 7.14 RIMS2 0 genome.wustl.edu 37 8 104898284 104898284 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 8 104898284 104898284 A C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1457 p.D486A 1.000 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 RIMS2 HGNC ENSG00000176406 tier1 - - 30 0 0.00 15 7 31.82 RLTPR 0 genome.wustl.edu 37 16 67681024 67681024 + Frame_Shift_Del DEL T T - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 67681024 67681024 T - DEL RLTPR ENST00000334583 human ensembl 74_37 +1 known frame_shift_del c.617 p.L206fs 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 tier1 48 0 0.00 17 2 10.53 RNF103 0 genome.wustl.edu 37 2 86832517 86832517 + Silent SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 86832517 86832517 G A SNP RNF103 ENST00000237455 human ensembl 74_37 -1 known silent c.507 p.V169 0.937 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 tier1 - - 29 0 0.00 22 5 17.86 RNF217 0 genome.wustl.edu 37 6 125397905 125397905 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 125397905 125397905 T G SNP RNF217 ENST00000560949 human ensembl 74_37 +1 known missense c.679 p.F227V 1.000 smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 tier1 - - 73 0 0.00 28 14 33.33 RNF40 0 genome.wustl.edu 37 16 30779758 30779758 + Missense_Mutation SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 30779758 30779758 C A SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known missense c.1886 p.S629Y 0.408 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 tier1 - - 34 0 0.00 33 6 15.38 RPA4 0 genome.wustl.edu 37 X 96139622 96139622 + Nonsense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 96139622 96139622 C T SNP RPA4 ENST00000373040 human ensembl 74_37 +1 known nonsense c.313 p.R105* 0.000 pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 tier1 - - 18 0 0.00 2 11 84.62 RPTOR 0 genome.wustl.edu 37 17 78617542 78617542 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 78617542 78617542 G T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.280 p.G94C 1.000 NULL pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 tier1 - - 69 0 0.00 42 4 8.51 RTFDC1 0 genome.wustl.edu 37 20 55047458 55047458 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 20 55047458 55047458 A G SNP RTFDC1 ENST00000357348 human ensembl 74_37 +1 known missense c.146 p.D49G 0.022 pfam_Rtf2_RING-finger pfam_Rtf2_RING-finger - no_errors RTFDC1 HGNC ENSG00000022277 tier1 - - 48 0 0.00 47 4 7.84 RYR2 0 genome.wustl.edu 37 1 237666672 237666672 + Missense_Mutation SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 237666672 237666672 T C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.2474 p.L825P 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 67 0 0.00 16 40 71.43 RYR3 0 genome.wustl.edu 37 15 33905446 33905446 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 15 33905446 33905446 A C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.2227 p.S743R 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 45 0 0.00 25 5 16.67 RYR3 0 genome.wustl.edu 37 15 34110876 34110876 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 15 34110876 34110876 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.10697 p.T3566M 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 43 0 0.00 26 6 18.75 SCAF11 0 genome.wustl.edu 37 12 46322278 46322278 + Silent SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 46322278 46322278 G A SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known silent c.1206 p.S402 0.984 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 63 0 0.00 56 3 5.08 SCAND3 0 genome.wustl.edu 37 6 28543320 28543320 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 28543320 28543320 C T SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.1162 p.G388R 1.000 pfam_Integrase_cat-core,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 tier1 - - 48 0 0.00 7 42 85.71 SCN4B 0 genome.wustl.edu 37 11 118015906 118015906 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 118015906 118015906 A G SNP SCN4B ENST00000324727 human ensembl 74_37 -1 known missense c.100 p.S34P 0.999 pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SCN4B HGNC ENSG00000177098 tier1 - - 39 0 0.00 15 27 64.29 SCN5A 0 genome.wustl.edu 37 3 38674551 38674551 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 38674551 38674551 A G SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.248 p.L83P 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 - - 75 0 0.00 61 4 6.15 SCNN1G 0 genome.wustl.edu 37 16 23200778 23200778 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 23200778 23200778 G A SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known missense c.404 p.R135Q 0.711 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 tier1 - - 41 0 0.00 26 13 33.33 SEC14L5 0 genome.wustl.edu 37 16 5058463 5058463 + Nonsense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 5058463 5058463 G A SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known nonsense c.1614 p.W538* 1.000 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 32 0 0.00 26 3 10.34 SEMA6A 0 genome.wustl.edu 37 5 115823894 115823894 + Splice_Site SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 115823894 115823894 T G SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known splice_site c.656-2 e8-2 1.000 - - - no_errors SEMA6A HGNC ENSG00000092421 tier1 - - 79 0 0.00 21 26 55.32 SERPINB13 0 genome.wustl.edu 37 18 61259619 61259619 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 18 61259619 61259619 A C SNP SERPINB13 ENST00000344731 human ensembl 74_37 +1 known missense c.263 p.K88T 0.005 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB13 HGNC ENSG00000197641 tier1 - - 36 0 0.00 7 12 63.16 SFI1 0 genome.wustl.edu 37 22 32000874 32000874 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 22 32000874 32000874 G A SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.1997 p.R666Q 0.000 superfamily_Cyclin-like superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 tier1 - - 79 0 0.00 11 24 68.57 SFXN4 0 genome.wustl.edu 37 10 120914684 120914684 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 120914684 120914684 C T SNP SFXN4 ENST00000355697 human ensembl 74_37 -1 known missense c.622 p.A208T 0.000 pfam_Mtc pfam_Mtc - no_errors SFXN4 HGNC ENSG00000183605 tier1 - - 47 0 0.00 21 8 27.59 SHPRH 0 genome.wustl.edu 37 6 146264331 146264331 + Missense_Mutation SNP T T A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 146264331 146264331 T A SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.2186 p.Q729L 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 tier1 - - 29 0 0.00 23 3 11.54 SLC25A33 0 genome.wustl.edu 37 1 9640067 9640067 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 9640067 9640067 A G SNP SLC25A33 ENST00000302692 human ensembl 74_37 +1 known missense c.538 p.T180A 1.000 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 SLC25A33 HGNC ENSG00000171612 tier1 - - 39 0 0.00 52 21 28.77 SLC35F1 0 genome.wustl.edu 37 6 118556681 118556681 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 118556681 118556681 A C SNP SLC35F1 ENST00000360388 human ensembl 74_37 +1 known missense c.359 p.N120T 1.000 pfam_SLC35_F1/F2/F6,pfam_DMT pfam_SLC35_F1/F2/F6,pfam_DMT - no_errors SLC35F1 HGNC ENSG00000196376 tier1 - - 81 0 0.00 50 25 33.33 SLC35F4 0 genome.wustl.edu 37 14 58036551 58036551 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 14 58036551 58036551 C T SNP SLC35F4 ENST00000339762 human ensembl 74_37 -1 known missense c.1189 p.A397T 1.000 pfam_SLC35_F1/F2/F6 pfam_DMT,pfam_SLC35_F1/F2/F6 - no_errors SLC35F4 HGNC ENSG00000151812 tier1 - - 44 0 0.00 25 4 13.79 SLC46A3 0 genome.wustl.edu 37 13 29275093 29275093 + Missense_Mutation SNP T T A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 13 29275093 29275093 T A SNP SLC46A3 ENST00000380814 human ensembl 74_37 -1 novel missense c.1383 p.R461S 0.207 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 tier1 - - 73 0 0.00 40 34 45.95 SLC5A12 0 genome.wustl.edu 37 11 26705342 26705342 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 26705342 26705342 A C SNP SLC5A12 ENST00000396005 human ensembl 74_37 -1 known missense c.1270 p.F424V 0.997 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A12 HGNC ENSG00000148942 tier1 - - 44 0 0.00 30 7 18.92 SLC6A11 0 genome.wustl.edu 37 3 10864996 10864996 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 10864996 10864996 T G SNP SLC6A11 ENST00000254488 human ensembl 74_37 +1 known missense c.542 p.V181G 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 tier1 - - 94 0 0.00 46 20 30.30 SLC8A1 0 genome.wustl.edu 37 2 40656313 40656313 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 40656313 40656313 G A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.1108 p.R370C 1.000 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 57 0 0.00 32 2 5.88 SLITRK3 0 genome.wustl.edu 37 3 164906581 164906581 + Nonsense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 164906581 164906581 G A SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known nonsense c.2038 p.R680* 0.548 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 tier1 - - 22 0 0.00 36 8 18.18 SLITRK5 0 genome.wustl.edu 37 13 88328307 88328307 + Nonsense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 13 88328307 88328307 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known nonsense c.664 p.Q222* 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 60 0 0.00 35 2 5.41 SMARCA1 0 genome.wustl.edu 37 X 128605259 128605259 + Silent SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 128605259 128605259 T C SNP SMARCA1 ENST00000371122 human ensembl 74_37 -1 known silent c.2487 p.R829 1.000 pfam_ISWI_HAND-dom,superfamily_ISWI_HAND-dom pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 44 0 0.00 53 3 5.36 SMTNL1 0 genome.wustl.edu 37 11 57310453 57310453 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 57310453 57310453 G A SNP SMTNL1 ENST00000457912 human ensembl 74_37 +1 known missense c.392 p.G131D 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC ENSG00000214872 tier1 - - 21 0 0.00 31 6 16.22 SNX13 0 genome.wustl.edu 37 7 17855816 17855816 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 17855816 17855816 C T SNP SNX13 ENST00000428135 human ensembl 74_37 -1 known missense c.1942 p.A648T 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX13 HGNC ENSG00000071189 tier1 - - 82 0 0.00 39 27 40.91 SNX29 0 genome.wustl.edu 37 16 12662432 12662432 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 12662432 12662432 C T SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known silent c.1233 p.S411 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 tier1 - - 91 0 0.00 71 7 8.97 SP4 0 genome.wustl.edu 37 7 21470141 21470141 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 21470141 21470141 A G SNP SP4 ENST00000222584 human ensembl 74_37 +1 known missense c.1358 p.Q453R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 tier1 - - 61 0 0.00 65 4 5.80 SPEF2 0 genome.wustl.edu 37 5 35654807 35654807 + Frame_Shift_Del DEL A A - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 35654807 35654807 A - DEL SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_del c.957 p.I320fs 0.988 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 69 0 0.00 43 13 23.21 SPEF2 0 genome.wustl.edu 37 5 35654810 35654811 + Frame_Shift_Del DEL AG AG - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 35654810 35654811 AG - DEL SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_del c.960_961 p.A321fs 0.999:1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 71 0 0.00 40 13 24.53 SPNS2 0 genome.wustl.edu 37 17 4439393 4439393 + Missense_Mutation SNP G G C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 4439393 4439393 G C SNP SPNS2 ENST00000329078 human ensembl 74_37 +1 known missense c.1367 p.R456P 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC ENSG00000183018 tier1 - - 22 0 0.00 15 5 22.73 SRPX 0 genome.wustl.edu 37 X 38031202 38031202 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 38031202 38031202 A C SNP SRPX ENST00000378533 human ensembl 74_37 -1 known missense c.458 p.L153W 0.997 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 tier1 - - 45 0 0.00 3 26 89.66 ST3GAL5 0 genome.wustl.edu 37 2 86073588 86073588 + Missense_Mutation SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 86073588 86073588 T C SNP ST3GAL5 ENST00000377332 human ensembl 74_37 -1 known missense c.761 p.E254G 0.994 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL5 HGNC ENSG00000115525 tier1 - - 41 0 0.00 51 4 7.27 STEAP3 0 genome.wustl.edu 37 2 120020751 120020751 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 120020751 120020751 C T SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known missense c.1334 p.T445M 0.997 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 tier1 - - 31 0 0.00 22 12 35.29 STEAP4 0 genome.wustl.edu 37 7 87908875 87908875 + Missense_Mutation SNP G G C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 87908875 87908875 G C SNP STEAP4 ENST00000380079 human ensembl 74_37 -1 known missense c.1218 p.F406L 1.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP4 HGNC ENSG00000127954 tier1 - - 59 0 0.00 15 7 31.82 STIM1 0 genome.wustl.edu 37 11 4095753 4095753 + Missense_Mutation SNP G G C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 4095753 4095753 G C SNP STIM1 ENST00000300737 human ensembl 74_37 +1 known missense c.813 p.E271D 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors STIM1 HGNC ENSG00000167323 tier1 - - 32 0 0.00 18 8 30.77 STL 0 genome.wustl.edu 37 6 125233554 125233554 + RNA DEL T T - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 125233554 125233554 T - DEL STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.401 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 tier1 42 0 0.00 31 23 42.59 STXBP1 0 genome.wustl.edu 37 9 130446835 130446835 + RNA SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 130446835 130446835 C T SNP STXBP1 ENST00000494254 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors STXBP1 HGNC ENSG00000136854 tier1 - - 14 0 0.00 13 4 23.53 SULT1E1 0 genome.wustl.edu 37 4 70707713 70707713 + Silent SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 4 70707713 70707713 T C SNP SULT1E1 ENST00000226444 human ensembl 74_37 -1 known silent c.884 p.*295 0.479 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1E1 HGNC ENSG00000109193 tier1 - - 58 0 0.00 32 15 31.91 SYNDIG1 0 genome.wustl.edu 37 20 24524039 24524039 + Missense_Mutation SNP G G C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 20 24524039 24524039 G C SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known missense c.306 p.W102C 1.000 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 49 0 0.00 32 2 5.88 SYT3 0 genome.wustl.edu 37 19 51132599 51132599 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 51132599 51132599 C T SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known silent c.1233 p.E411 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 tier1 - - 62 0 0.00 53 4 7.02 TAF10 0 genome.wustl.edu 37 11 6632477 6632477 + Silent SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 6632477 6632477 G A SNP TAF10 ENST00000299424 human ensembl 74_37 -1 known silent c.510 p.A170 1.000 pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa - no_errors TAF10 HGNC ENSG00000166337 tier1 - - 32 0 0.00 9 8 47.06 TAF1C 0 genome.wustl.edu 37 16 84217326 84217326 + Missense_Mutation SNP A A T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 84217326 84217326 A T SNP TAF1C ENST00000378541 human ensembl 74_37 -1 known missense c.197 p.L66H 0.958 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 tier1 - - 24 0 0.00 8 14 63.64 TBC1D10B 0 genome.wustl.edu 37 16 30376900 30376900 + Silent SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 30376900 30376900 G A SNP TBC1D10B ENST00000409939 human ensembl 74_37 -1 known silent c.972 p.P324 0.725 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC ENSG00000169221 tier1 - - 56 0 0.00 43 23 34.85 TBC1D32 0 genome.wustl.edu 37 6 121600279 121600279 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 121600279 121600279 G A SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative missense c.1721 p.S574F 0.998 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 tier1 - - 57 0 0.00 32 15 31.91 TBC1D3F 0 genome.wustl.edu 37 17 36288293 36288293 + Silent SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 36288293 36288293 A C SNP TBC1D3F ENST00000327454 human ensembl 74_37 +1 known silent c.379 p.R127 0.998 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 TBC1D3F HGNC ENSG00000185128 tier1 - - 622 0 0.00 353 70 16.55 TBXA2R 0 genome.wustl.edu 37 19 3600441 3600441 + Silent SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 3600441 3600441 G T SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known silent c.192 p.L64 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 tier1 - - 152 0 0.00 104 35 25.00 TBXAS1 0 genome.wustl.edu 37 7 139655362 139655362 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 139655362 139655362 G T SNP TBXAS1 ENST00000416849 human ensembl 74_37 +1 known missense c.785 p.R262L 0.427 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors TBXAS1 HGNC ENSG00000059377 43 0 0.00 27 2 6.90 TCEB3B 0 genome.wustl.edu 37 18 44560946 44560946 + Silent SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 18 44560946 44560946 A G SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known silent c.690 p.S230 0.001 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 tier1 - - 71 0 0.00 13 37 74.00 TCERG1L 0 genome.wustl.edu 37 10 133107433 133107433 + Silent SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 133107433 133107433 T G SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known silent c.472 p.R158 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 tier1 - - 61 0 0.00 41 12 22.64 TDRD5 0 genome.wustl.edu 37 1 179631398 179631398 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 179631398 179631398 T G SNP TDRD5 ENST00000444136 human ensembl 74_37 +1 known missense c.2482 p.S828A 0.020 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 tier1 - - 40 0 0.00 23 30 56.60 TENM2 0 genome.wustl.edu 37 5 167645899 167645899 + Missense_Mutation SNP A A T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 167645899 167645899 A T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.5003 p.K1668I 0.995 superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 38 0 0.00 21 4 16.00 THEM5 0 genome.wustl.edu 37 1 151824837 151824837 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 151824837 151824837 C T SNP THEM5 ENST00000368817 human ensembl 74_37 -1 known silent c.222 p.L74 0.998 NULL pfam_Thioestr_supf - no_errors THEM5 HGNC ENSG00000196407 tier1 - - 52 0 0.00 21 34 61.82 THSD7B 0 genome.wustl.edu 37 2 137988781 137988781 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 137988781 137988781 A C SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.1891 p.T631P 0.027 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 84 0 0.00 52 24 31.58 TIMD4 0 genome.wustl.edu 37 5 156381443 156381443 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 156381443 156381443 C T SNP TIMD4 ENST00000274532 human ensembl 74_37 -1 known missense c.383 p.R128H 0.000 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors TIMD4 HGNC ENSG00000145850 tier1 - - 28 0 0.00 11 10 47.62 TLX1NB 0 genome.wustl.edu 37 10 102849446 102849446 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 102849446 102849446 G T SNP TLX1NB ENST00000445873 human ensembl 74_37 -1 novel missense c.217 p.H73N 0.001 NULL NULL - no_errors TLX1NB HGNC ENSG00000236311 tier1 - - 47 0 0.00 32 4 11.11 TMEM60 0 genome.wustl.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 77423460 77423460 T - DEL TMEM60 ENST00000257663 human ensembl 74_37 -1 known frame_shift_del c.231 p.A78fs 0.998 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 tier1 70 0 0.00 40 4 9.09 TNFSF14 0 genome.wustl.edu 37 19 6665098 6665098 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 6665098 6665098 C T SNP TNFSF14 ENST00000599359 human ensembl 74_37 -1 known missense c.562 p.G188R 0.001 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF14 HGNC ENSG00000125735 tier1 - - 29 0 0.00 14 9 39.13 TNRC18 0 genome.wustl.edu 37 7 5353350 5353350 + Missense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 7 5353350 5353350 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.7172 p.P2391L 0.007 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 148 0 0.00 52 32 38.10 TNS4 0 genome.wustl.edu 37 17 38643518 38643518 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 17 38643518 38643518 A G SNP TNS4 ENST00000254051 human ensembl 74_37 -1 known missense c.1058 p.L353P 0.002 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 tier1 - - 97 0 0.00 48 18 27.27 TRDMT1 0 genome.wustl.edu 37 10 17210898 17210898 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 17210898 17210898 A C SNP TRDMT1 ENST00000377799 human ensembl 74_37 -1 known missense c.193 p.F65V 1.000 pfam_C5_MeTfrase,tigrfam_C5_MeTfrase pfam_C5_MeTfrase,prints_C5_MeTfrase,tigrfam_C5_MeTfrase - no_errors TRDMT1 HGNC ENSG00000107614 tier1 - - 42 0 0.00 21 21 50.00 TRIM58 0 genome.wustl.edu 37 1 248039764 248039764 + Silent SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 248039764 248039764 T C SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known silent c.1434 p.A478 0.000 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 TRIM58 HGNC ENSG00000162722 tier1 - - 35 0 0.00 41 10 19.61 TRIM62 0 genome.wustl.edu 37 1 33613224 33613224 + Nonsense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 33613224 33613224 G A SNP TRIM62 ENST00000291416 human ensembl 74_37 -1 known nonsense c.982 p.Q328* 1.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM62 HGNC ENSG00000116525 tier1 - - 185 0 0.00 89 29 24.58 TRPM3 0 genome.wustl.edu 37 9 73206023 73206023 + Silent SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 73206023 73206023 T C SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.3192 p.S1064 0.990 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 49 0 0.00 19 3 13.64 TTC27 0 genome.wustl.edu 37 2 32859031 32859031 + Nonsense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 32859031 32859031 C T SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known nonsense c.355 p.Q119* 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 tier1 - - 99 0 0.00 35 33 48.53 TTN 0 genome.wustl.edu 37 2 179596613 179596613 + Silent SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 179596613 179596613 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.13257 p.T4419 0.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 33 0 0.00 19 14 42.42 TTN 0 genome.wustl.edu 37 2 179449464 179449464 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 179449464 179449464 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.57200 p.R19067H 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 54 0 0.00 49 3 5.77 TUB 0 genome.wustl.edu 37 11 8117062 8117062 + Missense_Mutation SNP G G C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 8117062 8117062 G C SNP TUB ENST00000305253 human ensembl 74_37 +1 known missense c.580 p.A194P 0.978 prints_Tubby_N pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 tier1 - - 54 0 0.00 25 7 21.88 TUBA3C 0 genome.wustl.edu 37 13 19751617 19751617 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 13 19751617 19751617 A C SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.506 p.F169C 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 tier1 - - 85 0 0.00 30 24 44.44 ULK3 0 genome.wustl.edu 37 15 75134440 75134440 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 15 75134440 75134440 C T SNP ULK3 ENST00000440863 human ensembl 74_37 -1 known missense c.340 p.A114T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_dom - no_errors ULK3 HGNC ENSG00000140474 tier1 - - 40 0 0.00 16 16 50.00 USP20 0 genome.wustl.edu 37 9 132637912 132637912 + Silent SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 9 132637912 132637912 G T SNP USP20 ENST00000315480 human ensembl 74_37 +1 known silent c.2292 p.L764 0.959 smart_Pept_C19_DUSP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 54 0 0.00 35 2 5.41 USPL1 0 genome.wustl.edu 37 13 31233169 31233169 + Silent SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 13 31233169 31233169 G T SNP USPL1 ENST00000255304 human ensembl 74_37 +1 known silent c.2955 p.L985 0.062 NULL pfscan_Peptidase_C19/C67 - no_errors USPL1 HGNC ENSG00000132952 tier1 - - 61 0 0.00 47 4 7.84 VASH1 0 genome.wustl.edu 37 14 77229456 77229456 + Missense_Mutation SNP G G C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 14 77229456 77229456 G C SNP VASH1 ENST00000167106 human ensembl 74_37 +1 known missense c.292 p.A98P 0.997 NULL NULL - no_errors VASH1 HGNC ENSG00000071246 59 0 0.00 31 4 11.43 VCAN 0 genome.wustl.edu 37 5 82815484 82815484 + Silent SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 82815484 82815484 A G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.1359 p.S453 0.996 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 38 0 0.00 32 9 21.95 VEPH1 0 genome.wustl.edu 37 3 157004431 157004431 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 3 157004431 157004431 T G SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.2043 p.E681D 1.000 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 tier1 - - 37 0 0.00 17 23 56.10 VN1R2 0 genome.wustl.edu 37 19 53762203 53762203 + Missense_Mutation SNP A A T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 53762203 53762203 A T SNP VN1R2 ENST00000341702 human ensembl 74_37 +1 known missense c.575 p.N192I 0.029 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R2 HGNC ENSG00000196131 tier1 - - 77 0 0.00 34 18 34.62 WASF1 0 genome.wustl.edu 37 6 110428322 110428322 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 6 110428322 110428322 C T SNP WASF1 ENST00000359451 human ensembl 74_37 -1 known silent c.498 p.L166 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 tier1 - - 47 0 0.00 23 23 50.00 WDR7 0 genome.wustl.edu 37 18 54426150 54426150 + Silent SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 18 54426150 54426150 T C SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known silent c.2814 p.T938 0.997 NULL pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 tier1 - - 110 0 0.00 31 36 53.73 WDR87 0 genome.wustl.edu 37 19 38380298 38380298 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 38380298 38380298 T G SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.4013 p.K1338T 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 33 0 0.00 25 16 39.02 WDR90 0 genome.wustl.edu 37 16 711660 711660 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 711660 711660 C T SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel missense c.3737 p.T1246I 0.000 superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 32 0 0.00 38 4 9.30 WSCD2 0 genome.wustl.edu 37 12 108620910 108620910 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 12 108620910 108620910 T G SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known missense c.948 p.S316R 0.798 superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 tier1 - - 44 0 0.00 10 13 56.52 ZC3H12C 0 genome.wustl.edu 37 11 110007466 110007466 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 11 110007466 110007466 T G SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known missense c.100 p.L34V 0.998 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 tier1 - - 61 0 0.00 36 6 14.29 ZC3H13 0 genome.wustl.edu 37 13 46549566 46549566 + Nonsense_Mutation SNP G G A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 13 46549566 46549566 G A SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known nonsense c.2320 p.R774* 0.993 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 97 0 0.00 75 4 5.06 ZC3H7A 0 genome.wustl.edu 37 16 11861348 11861348 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 11861348 11861348 C T SNP ZC3H7A ENST00000355758 human ensembl 74_37 -1 known missense c.1447 p.E483K 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 tier1 - - 68 0 0.00 83 12 12.63 ZFP69B 0 genome.wustl.edu 37 1 40916691 40916691 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 1 40916691 40916691 C T SNP ZFP69B ENST00000411995 human ensembl 74_37 +1 known missense c.58 p.R20C 0.997 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZFP69B HGNC ENSG00000187801 tier1 - - 48 0 0.00 21 5 19.23 ZHX3 0 genome.wustl.edu 37 20 39832332 39832332 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 20 39832332 39832332 C T SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known missense c.1225 p.A409T 0.012 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 39 0 0.00 33 3 8.33 ZMYM3 0 genome.wustl.edu 37 X 70463796 70463796 + Silent SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 X 70463796 70463796 G T SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known silent c.3321 p.A1107 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 tier1 - - 39 0 0.00 27 4 12.90 ZNF236 0 genome.wustl.edu 37 18 74625774 74625774 + Missense_Mutation SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 18 74625774 74625774 A G SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.2975 p.E992G 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 tier1 - - 72 0 0.00 9 14 60.87 ZNF257 0 genome.wustl.edu 37 19 22271232 22271232 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 22271232 22271232 A C SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.680 p.K227T 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 tier1 - - 71 0 0.00 48 25 34.25 ZNF283 0 genome.wustl.edu 37 19 44351115 44351115 + Missense_Mutation SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 44351115 44351115 C A SNP ZNF283 ENST00000324461 human ensembl 74_37 +1 known missense c.362 p.T121N 0.002 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 tier1 - - 121 0 0.00 65 49 42.61 ZNF283 0 genome.wustl.edu 37 19 44351116 44351116 + Silent SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 44351116 44351116 C A SNP ZNF283 ENST00000324461 human ensembl 74_37 +1 known silent c.363 p.T121 0.002 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 tier1 - - 124 0 0.00 64 50 43.48 ZNF304 0 genome.wustl.edu 37 19 57868053 57868053 + Silent SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 57868053 57868053 C A SNP ZNF304 ENST00000282286 human ensembl 74_37 +1 known silent c.816 p.I272 0.002 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 ZNF304 HGNC ENSG00000131845 25 0 0.00 28 4 12.50 ZNF454 0 genome.wustl.edu 37 5 178392181 178392181 + Missense_Mutation SNP T T A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 5 178392181 178392181 T A SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known missense c.776 p.L259H 0.414 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 ZNF454 HGNC ENSG00000178187 tier1 - - 71 0 0.00 24 15 38.46 ZNF532 0 genome.wustl.edu 37 18 56585942 56585942 + Silent SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 18 56585942 56585942 C T SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known silent c.423 p.D141 0.871 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 tier1 - - 41 0 0.00 11 7 38.89 ZNF536 0 genome.wustl.edu 37 19 30936442 30936442 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 30936442 30936442 A C SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.1973 p.K658T 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 97 0 0.00 112 25 18.25 ZNF542 0 genome.wustl.edu 37 19 56889139 56889139 + RNA SNP A A G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 56889139 56889139 A G SNP ZNF542 ENST00000467807 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors ZNF542 HGNC ENSG00000240225 tier1 - - 75 0 0.00 28 29 50.88 ZNF542 0 genome.wustl.edu 37 19 56884899 56884899 + Splice_Site SNP G G C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 56884899 56884899 G C SNP ZNF542 ENST00000462524 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.424 - - - no_errors ZNF542 HGNC ENSG00000240225 57 0 0.00 37 3 7.50 ZNF543 0 genome.wustl.edu 37 19 57840428 57840428 + Missense_Mutation SNP A A T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 57840428 57840428 A T SNP ZNF543 ENST00000321545 human ensembl 74_37 +1 known missense c.1598 p.K533M 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF543 HGNC ENSG00000178229 tier1 - - 67 0 0.00 33 20 37.74 ZNF560 0 genome.wustl.edu 37 19 9579815 9579815 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 9579815 9579815 T G SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known missense c.578 p.N193T 0.018 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 ZNF560 HGNC ENSG00000198028 tier1 - - 48 0 0.00 24 9 27.27 ZNF568 0 genome.wustl.edu 37 19 37488344 37488344 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 37488344 37488344 T G SNP ZNF568 ENST00000455427 human ensembl 74_37 +1 known missense c.1559 p.V520G 0.639 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 ZNF568 HGNC ENSG00000198453 tier1 - - 58 0 0.00 22 18 45.00 ZNF569 0 genome.wustl.edu 37 19 37903852 37903852 + Missense_Mutation SNP T T C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 37903852 37903852 T C SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known missense c.1708 p.R570G 0.994 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 ZNF569 HGNC ENSG00000196437 tier1 - - 58 0 0.00 30 28 48.28 ZNF667 0 genome.wustl.edu 37 19 56952879 56952879 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 56952879 56952879 T G SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.1869 p.E623D 0.350 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 ZNF667 HGNC ENSG00000198046 tier1 - - 59 0 0.00 35 22 38.60 ZNF676 0 genome.wustl.edu 37 19 22363724 22363724 + Silent SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 22363724 22363724 G T SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known silent c.795 p.V265 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 88 0 0.00 39 23 37.10 ZNF681 0 genome.wustl.edu 37 19 23927796 23927796 + Missense_Mutation SNP T T G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 23927796 23927796 T G SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.556 p.T186P 0.003 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 ZNF681 HGNC ENSG00000196172 tier1 - - 52 0 0.00 30 14 31.82 ZNF702P 0 genome.wustl.edu 37 19 53473786 53473786 + RNA SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 19 53473786 53473786 A C SNP ZNF702P ENST00000270443 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors ZNF702P HGNC ENSG00000242779 tier1 - - 90 0 0.00 34 37 52.11 ZNF720 0 genome.wustl.edu 37 16 31765507 31765507 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 16 31765507 31765507 C T SNP ZNF720 ENST00000398696 human ensembl 74_37 +1 known missense c.437 p.S146L 0.002 NULL NULL - no_errors ZNF720 HGNC ENSG00000197302 tier1 - - 66 0 0.00 67 10 12.99 ZNF721 0 genome.wustl.edu 37 4 438107 438107 + Missense_Mutation SNP C C T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 4 438107 438107 C T SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known missense c.149 p.R50K 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 tier1 - - 62 0 0.00 28 18 39.13 ZNF804A 0 genome.wustl.edu 37 2 185800871 185800871 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 185800871 185800871 A C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.748 p.S250R 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 42 0 0.00 39 20 33.90 ZNF804A 0 genome.wustl.edu 37 2 185802671 185802671 + Missense_Mutation SNP A A C TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 2 185802671 185802671 A C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2548 p.S850R 0.002 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 31 0 0.00 9 25 73.53 ZRANB1 0 genome.wustl.edu 37 10 126660624 126660624 + Missense_Mutation SNP C C A TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f 0d8cf159-3ae8-476d-8eed-6db88565e839 10 126660624 126660624 C A SNP ZRANB1 ENST00000359653 human ensembl 74_37 +1 known missense c.1093 p.Q365K 1.000 NULL pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 tier1 - - 73 0 0.00 54 4 6.90