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 ACRC 0 genome.wustl.edu 37 X 70824010 70824010 + Missense_Mutation SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f X 70824010 70824010 T C SNP ACRC ENST00000373695 human ensembl 74_37 +1 known missense c.883 p.S295P 0.009 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 64 0 0.00 95 5 5.00 ADH6 0 genome.wustl.edu 37 4 100128630 100128630 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 4 100128630 100128630 G A SNP ADH6 ENST00000394899 human ensembl 74_37 -1 known missense c.937 p.R313C 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH6 HGNC ENSG00000172955 tier1 - - 57 0 0.00 53 15 22.06 ALDH6A1 0 genome.wustl.edu 37 14 74551066 74551066 + Missense_Mutation SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 14 74551066 74551066 C T SNP ALDH6A1 ENST00000553458 human ensembl 74_37 -1 known missense c.32 p.R11Q 0.771 NULL pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH - no_errors ALDH6A1 HGNC ENSG00000119711 tier1 - - 96 0 0.00 56 8 12.50 AMER2 0 genome.wustl.edu 37 13 25744194 25744194 + Missense_Mutation SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 13 25744194 25744194 C T SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known missense c.1564 p.E522K 1.000 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 tier1 - - 46 0 0.00 30 12 28.57 ANKRD40 0 genome.wustl.edu 37 17 48774476 48774476 + Missense_Mutation SNP A A C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 17 48774476 48774476 A C SNP ANKRD40 ENST00000285243 human ensembl 74_37 -1 known missense c.785 p.V262G 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 tier1 - - 43 0 0.00 35 12 25.53 AP3B2 0 genome.wustl.edu 37 15 83333651 83333653 + In_Frame_Del DEL CTC CTC - TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 15 83333651 83333653 CTC - DEL AP3B2 ENST00000261722 human ensembl 74_37 -1 known in_frame_del c.2016_2014 p.E672in_frame_del 1.000:1.000:1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 tier1 64 0 0.00 45 21 31.82 API5 0 genome.wustl.edu 37 11 43364101 43364101 + Missense_Mutation SNP A A G TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 11 43364101 43364101 A G SNP API5 ENST00000534695 human ensembl 74_37 +1 putative missense c.270 p.I90M 0.995 NULL pfam_API5,superfamily_ARM-type_fold - no_errors API5 HGNC ENSG00000166181 tier1 - - 31 0 0.00 30 21 41.18 ATG5 0 genome.wustl.edu 37 6 106649888 106649888 + Missense_Mutation SNP T T A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 6 106649888 106649888 T A SNP ATG5 ENST00000343245 human ensembl 74_37 -1 known missense c.650 p.D217V 1.000 pfam_Atg5 pfam_Atg5 - no_errors ATG5 HGNC ENSG00000057663 tier1 - - 56 0 0.00 31 17 34.69 BCR 0 genome.wustl.edu 37 22 23658925 23658925 + RNA SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 22 23658925 23658925 G A SNP BCR ENST00000436990 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BCR HGNC ENSG00000186716 tier1 - - 53 0 0.00 54 14 20.59 BIRC6 0 genome.wustl.edu 37 2 32735596 32735596 + Missense_Mutation SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 2 32735596 32735596 T C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.10241 p.L3414S 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 37 0 0.00 38 3 7.32 CCDC108 0 genome.wustl.edu 37 2 219894879 219894879 + Missense_Mutation SNP G G T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 2 219894879 219894879 G T SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.1213 p.Q405K 0.193 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 tier1 - - 29 0 0.00 27 6 18.18 CCDC96 0 genome.wustl.edu 37 4 7043105 7043105 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 4 7043105 7043105 G A SNP CCDC96 ENST00000310085 human ensembl 74_37 -1 known missense c.1561 p.L521F 0.420 NULL NULL - no_errors CCDC96 HGNC ENSG00000173013 tier1 - - 84 0 0.00 53 4 7.02 CDC42BPG 0 genome.wustl.edu 37 11 64606671 64606671 + Missense_Mutation SNP T T A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 11 64606671 64606671 T A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.710 p.Y237F 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 tier1 - - 31 0 0.00 18 7 26.92 CDHR5 0 genome.wustl.edu 37 11 621243 621243 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 11 621243 621243 G A SNP CDHR5 ENST00000358353 human ensembl 74_37 -1 known missense c.626 p.P209L 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 tier1 - - 96 0 0.00 89 17 15.74 CFHR1 0 genome.wustl.edu 37 1 196797357 196797357 + Silent SNP A A G TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 1 196797357 196797357 A G SNP CFHR1 ENST00000320493 human ensembl 74_37 +1 known silent c.588 p.T196 0.590 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR1 HGNC ENSG00000244414 24 0 0.00 26 10 27.78 CLGN 0 genome.wustl.edu 37 4 141321590 141321590 + Silent SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 4 141321590 141321590 G A SNP CLGN ENST00000325617 human ensembl 74_37 -1 known silent c.615 p.F205 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 tier1 - - 41 0 0.00 29 14 32.56 CLSTN1 0 genome.wustl.edu 37 1 9793590 9793590 + Missense_Mutation SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 1 9793590 9793590 C T SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known missense c.2296 p.A766T 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 59 0 0.00 51 3 5.45 COLGALT2 0 genome.wustl.edu 37 1 183909716 183909716 + Missense_Mutation SNP C C A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 1 183909716 183909716 C A SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known missense c.1603 p.V535L 1.000 NULL pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 tier1 - - 44 0 0.00 34 15 30.61 CUEDC1 0 genome.wustl.edu 37 17 55940324 55940324 + RNA DEL T T - TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 17 55940324 55940324 T - DEL CUEDC1 ENST00000577422 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CUEDC1 HGNC ENSG00000180891 tier1 18 0 0.00 18 4 18.18 CXorf64 0 genome.wustl.edu 37 X 125955211 125955211 + Missense_Mutation SNP C C A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f X 125955211 125955211 C A SNP CXorf64 ENST00000371125 human ensembl 74_37 +1 known missense c.590 p.P197H 0.000 NULL NULL - no_errors CXorf64 HGNC ENSG00000183631 tier1 - - 56 0 0.00 28 16 36.36 DBF4 0 genome.wustl.edu 37 7 87536898 87536898 + Missense_Mutation SNP A A G TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 7 87536898 87536898 A G SNP DBF4 ENST00000265728 human ensembl 74_37 +1 known missense c.1445 p.Y482C 0.000 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 tier1 - - 59 0 0.00 95 21 18.10 DLEU2 0 genome.wustl.edu 37 13 50618819 50618819 + RNA DEL T T - TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 13 50618819 50618819 T - DEL DLEU2 ENST00000235290 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DLEU2 HGNC ENSG00000231607 tier1 25 0 0.00 13 2 13.33 DLX6 0 genome.wustl.edu 37 7 96635385 96635385 + Splice_Site SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 7 96635385 96635385 G A SNP DLX6 ENST00000007660 human ensembl 74_37 +1 known splice_site c.95+1 e1+1 0.997 - - - no_errors DLX6 HGNC ENSG00000006377 63 0 0.00 71 4 5.33 DPY19L2P1 0 genome.wustl.edu 37 7 35131338 35131338 + RNA SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 7 35131338 35131338 C T SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 tier1 - - 23 0 0.00 23 12 34.29 DRD5 0 genome.wustl.edu 37 4 9784785 9784785 + Missense_Mutation SNP T T G TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 4 9784785 9784785 T G SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.1132 p.F378V 0.043 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 48 0 0.00 42 3 6.67 EEFSEC 0 genome.wustl.edu 37 3 128060142 128060142 + Missense_Mutation SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 3 128060142 128060142 C T SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.853 p.R285W 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 tier1 - - 57 0 0.00 67 11 14.10 ELAVL2 0 genome.wustl.edu 37 9 23762201 23762201 + Frame_Shift_Del DEL C C - TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 9 23762201 23762201 C - DEL ELAVL2 ENST00000380117 human ensembl 74_37 -1 known frame_shift_del c.32 p.C11fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 tier1 71 0 0.00 16 2 11.11 ENSG00000259180 0 genome.wustl.edu 37 15 55972660 55972661 + RNA INS - - T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 15 55972660 55972661 - T INS ENSG00000259180 ENST00000561155 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-420M1.2 Clone_based_vega_gene ENSG00000259180 tier1 12 0 0.00 19 4 17.39 ENSG00000261096 0 genome.wustl.edu 37 2 232677018 232677018 + RNA DEL A A - TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 2 232677018 232677018 A - DEL ENSG00000261096 ENST00000563949 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-690I21.2 Clone_based_vega_gene ENSG00000261096 tier1 21 0 0.00 30 3 9.09 FAM65B 0 genome.wustl.edu 37 6 24825523 24825523 + Missense_Mutation SNP G G C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 6 24825523 24825523 G C SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known missense c.2862 p.D954E 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 tier1 - - 81 0 0.00 78 5 6.02 FAM86DP 0 genome.wustl.edu 37 3 75471400 75471400 + RNA SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 3 75471400 75471400 C T SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FAM86DP HGNC ENSG00000244026 75 0 0.00 45 7 13.46 FASN 0 genome.wustl.edu 37 17 80037129 80037129 + Missense_Mutation SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 17 80037129 80037129 C T SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.7426 p.V2476I 0.733 pfam_Thioesterase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 rs1140623 - 58 0 0.00 43 11 20.37 FBXO28 0 genome.wustl.edu 37 1 224345198 224345198 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 1 224345198 224345198 G A SNP FBXO28 ENST00000366862 human ensembl 74_37 +1 known missense c.857 p.R286H 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO28 HGNC ENSG00000143756 28 0 0.00 39 3 7.14 FEM1C 0 genome.wustl.edu 37 5 114860452 114860452 + Missense_Mutation SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 5 114860452 114860452 T C SNP FEM1C ENST00000274457 human ensembl 74_37 -1 known missense c.1407 p.I469M 0.975 superfamily_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 FEM1C HGNC ENSG00000145780 tier1 - - 62 0 0.00 16 30 65.22 FGFR2 0 genome.wustl.edu 37 10 123244982 123244982 + Missense_Mutation SNP G G T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 10 123244982 123244982 G T SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known missense c.2125 p.P709T 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 FGFR2 HGNC ENSG00000066468 32 0 0.00 29 2 6.45 FIP1L1 0 genome.wustl.edu 37 4 54325561 54325561 + Missense_Mutation SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 4 54325561 54325561 C T SNP FIP1L1 ENST00000337488 human ensembl 74_37 +1 known missense c.1730 p.A577V 1.000 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 19 0 0.00 30 2 6.25 FUK 0 genome.wustl.edu 37 16 70506917 70506917 + Missense_Mutation SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 16 70506917 70506917 C T SNP FUK ENST00000378912 human ensembl 74_37 +1 known missense c.1534 p.P512S 0.000 pfam_Fucokinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 tier1 - - 79 0 0.00 53 4 7.02 GLUD2 0 genome.wustl.edu 37 X 120181834 120181834 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f X 120181834 120181834 G A SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.296 p.R99Q 0.988 NULL pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 tier1 - - 52 0 0.00 52 13 20.00 H3F3A 0 genome.wustl.edu 37 1 226252079 226252079 + Silent SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 1 226252079 226252079 C T SNP H3F3A ENST00000366813 human ensembl 74_37 +1 known silent c.27 p.R9 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3A HGNC ENSG00000163041 tier1 - - 73 0 0.00 126 16 11.27 HECTD4 0 genome.wustl.edu 37 12 112717042 112717042 + Silent SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 12 112717042 112717042 T C SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.1245 p.S415 0.669 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 37 0 0.00 20 12 37.50 HIST1H3B 0 genome.wustl.edu 37 6 26032136 26032136 + Missense_Mutation SNP C C G TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 6 26032136 26032136 C G SNP HIST1H3B ENST00000244661 human ensembl 74_37 -1 known missense c.153 p.E51D 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC ENSG00000124693 tier1 - - 72 0 0.00 68 14 17.07 HTT 0 genome.wustl.edu 37 4 3133112 3133112 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 4 3133112 3133112 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.2086 p.G696R 0.950 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 97 0 0.00 55 9 14.06 IGHV4-59 0 genome.wustl.edu 37 14 107083503 107083503 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 14 107083503 107083503 G A SNP IGHV4-59 ENST00000455737 human ensembl 74_37 -1 known missense c.101 p.S34L 0.081 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV4-59 HGNC ENSG00000224373 tier1 - - 105 0 0.00 87 56 39.16 IVL 0 genome.wustl.edu 37 1 152882800 152882800 + Missense_Mutation SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 1 152882800 152882800 C T SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.527 p.P176L 0.000 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 28 0 0.00 38 2 5.00 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42127814 42127814 + Nonsense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 15 42127814 42127814 G A SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known nonsense c.501 p.W167* 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 tier1 - - 57 0 0.00 47 4 7.84 KCTD19 0 genome.wustl.edu 37 16 67354649 67354649 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 16 67354649 67354649 G A SNP KCTD19 ENST00000304372 human ensembl 74_37 -1 known missense c.143 p.S48F 0.406 pfam_T1-type_BTB,superfamily_BTB/POZ_fold pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 tier1 - - 51 0 0.00 49 8 14.04 KIAA0020 0 genome.wustl.edu 37 9 2829813 2829813 + Silent SNP C C A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 9 2829813 2829813 C A SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known silent c.813 p.L271 0.990 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 tier1 - - 56 0 0.00 62 8 11.43 KIAA0020 0 genome.wustl.edu 37 9 2834111 2834111 + Silent SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 9 2834111 2834111 C T SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known silent c.360 p.L120 0.988 NULL pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 tier1 - - 65 0 0.00 52 12 18.75 KIAA0020 0 genome.wustl.edu 37 9 2837324 2837324 + Missense_Mutation SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 9 2837324 2837324 C T SNP KIAA0020 ENST00000397885 human ensembl 74_37 -1 known missense c.160 p.E54K 1.000 NULL pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 tier1 - - 76 0 0.00 57 17 22.97 KIAA1210 0 genome.wustl.edu 37 X 118219376 118219376 + Silent SNP G G T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f X 118219376 118219376 G T SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known silent c.4818 p.A1606 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 tier1 - - 146 0 0.00 86 49 36.30 KIAA2018 0 genome.wustl.edu 37 3 113377482 113377482 + Frame_Shift_Del DEL T T - TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 3 113377482 113377482 T - DEL KIAA2018 ENST00000316407 human ensembl 74_37 -1 known frame_shift_del c.3047 p.N1016fs 0.827 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 30 0 0.00 30 2 6.25 LARS2 0 genome.wustl.edu 37 3 45557698 45557698 + Silent SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 3 45557698 45557698 G A SNP LARS2 ENST00000265537 human ensembl 74_37 +1 known silent c.1974 p.G658 0.494 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Leu-tRNA-ligase_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito - no_errors LARS2 HGNC ENSG00000011376 tier1 - - 63 0 0.00 20 19 48.72 LDLRAD3 0 genome.wustl.edu 37 11 36119944 36119944 + Silent SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 11 36119944 36119944 C T SNP LDLRAD3 ENST00000315571 human ensembl 74_37 +1 known silent c.387 p.S129 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLRAD3 HGNC ENSG00000179241 tier1 - - 47 0 0.00 58 4 6.45 LIN7A 0 genome.wustl.edu 37 12 81205437 81205437 + Missense_Mutation SNP T T G TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 12 81205437 81205437 T G SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known missense c.509 p.K170T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 tier1 - - 46 0 0.00 34 26 43.33 LOC100506060 0 genome.wustl.edu 37 16 70265027 70265027 + RNA SNP G G C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 16 70265027 70265027 G C SNP LOC100506060 ENST00000568855 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-296I10.6 Clone_based_vega_gene ENSG00000261556 tier1 - - 165 0 0.00 94 94 50.00 LY75 0 genome.wustl.edu 37 2 160664960 160664960 + Missense_Mutation SNP C C G TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 2 160664960 160664960 C G SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.4822 p.D1608H 0.852 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 tier1 - - 47 0 0.00 47 22 31.88 MEI4 0 genome.wustl.edu 37 6 78471096 78471096 + Missense_Mutation SNP A A G TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 6 78471096 78471096 A G SNP MEI4 ENST00000602452 human ensembl 74_37 +1 novel missense c.482 p.K161R 1.000 NULL NULL - no_errors MEI4 HGNC ENSG00000269964 tier1 - - 34 0 0.00 27 4 12.90 MIB1 0 genome.wustl.edu 37 18 19429195 19429195 + Missense_Mutation SNP A A T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 18 19429195 19429195 A T SNP MIB1 ENST00000261537 human ensembl 74_37 +1 known missense c.2432 p.N811I 1.000 NULL pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB1 HGNC ENSG00000101752 tier1 - - 29 0 0.00 32 13 28.89 MICAL3 0 genome.wustl.edu 37 22 18383650 18383650 + Missense_Mutation SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 22 18383650 18383650 T C SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.805 p.I269V 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 tier1 - - 65 0 0.00 53 17 24.29 MIR335 0 genome.wustl.edu 37 7 130135898 130135898 + RNA SNP G G T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 7 130135898 130135898 G T SNP MIR335 ENST00000604666 human ensembl 74_37 -1 known rna NULL NULL 0.182 - - - no_errors hsa-mir-335 miRBase ENSG00000270823 tier1 - - 23 0 0.00 16 5 23.81 MIR3677 0 genome.wustl.edu 37 16 2320736 2320736 + RNA SNP T T A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 16 2320736 2320736 T A SNP MIR3677 ENST00000578964 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR3677 HGNC ENSG00000266643 tier1 - - 30 0 0.00 39 9 18.75 MTA2 0 genome.wustl.edu 37 11 62362771 62362771 + Missense_Mutation SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 11 62362771 62362771 T C SNP MTA2 ENST00000278823 human ensembl 74_37 -1 known missense c.1448 p.Y483C 0.999 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA2 HGNC ENSG00000149480 tier1 - - 39 0 0.00 24 10 29.41 MTUS2 0 genome.wustl.edu 37 13 29675026 29675026 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 13 29675026 29675026 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2593 p.V865I 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 92 0 0.00 56 10 15.15 MUC4 0 genome.wustl.edu 37 3 195506482 195506482 + Missense_Mutation SNP G G T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 3 195506482 195506482 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.11969 p.T3990N 0.003 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 rs113936020 - 28 0 0.00 60 9 13.04 MUC4 0 genome.wustl.edu 37 3 195513156 195513156 + Silent SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 3 195513156 195513156 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.5295 p.D1765 0.050 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 281 0 0.00 631 61 8.79 NBEA 0 genome.wustl.edu 37 13 35632959 35632959 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 13 35632959 35632959 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.1198 p.A400T 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 - - 62 0 0.00 67 4 5.63 NCAN 0 genome.wustl.edu 37 19 19330103 19330103 + Missense_Mutation SNP C C A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 19 19330103 19330103 C A SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.453 p.D151E 1.000 superfamily_C-type_lectin_fold,smart_Ig_sub,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,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,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 tier1 - - 44 0 0.00 43 7 14.00 NLRP14 0 genome.wustl.edu 37 11 7064670 7064670 + Missense_Mutation SNP G G T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 11 7064670 7064670 G T SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.1413 p.E471D 0.004 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 21 0 0.00 30 2 6.25 OLA1 0 genome.wustl.edu 37 2 174940204 174940204 + Missense_Mutation SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 2 174940204 174940204 C T SNP OLA1 ENST00000284719 human ensembl 74_37 -1 known missense c.1141 p.D381N 1.000 pfam_DUF933,superfamily_TGS-like,pirsf_CHP00092,tigrfam_CHP00092 pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 - no_errors OLA1 HGNC ENSG00000138430 tier1 - - 80 0 0.00 66 52 44.07 OR11L1 0 genome.wustl.edu 37 1 248005147 248005147 + Nonsense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 1 248005147 248005147 G A SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known nonsense c.52 p.Q18* 0.045 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 tier1 - - 12 0 0.00 19 13 40.62 OR2AG2 0 genome.wustl.edu 37 11 6789646 6789646 + Silent SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 11 6789646 6789646 G A SNP OR2AG2 ENST00000338569 human ensembl 74_37 -1 known silent c.543 p.I181 0.555 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AG2 HGNC ENSG00000188124 tier1 - - 41 0 0.00 44 33 42.86 OR4C46 0 genome.wustl.edu 37 11 51515594 51515594 + Missense_Mutation SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 11 51515594 51515594 T C SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known missense c.313 p.F105L 0.005 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 OR4C46 HGNC ENSG00000185926 tier1 - - 106 0 0.00 84 28 25.00 PCCA 0 genome.wustl.edu 37 13 100953829 100953829 + Missense_Mutation SNP G G T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 13 100953829 100953829 G T SNP PCCA ENST00000376285 human ensembl 74_37 +1 known missense c.1181 p.W394L 1.000 superfamily_Rudment_hybrid_motif,pfscan_Biotin_carboxylation_dom 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_RimK-type,pfam_ATP-grasp_carboxylate-amine,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 PCCA HGNC ENSG00000175198 53 0 0.00 50 3 5.66 PCDHA9 0 genome.wustl.edu 37 5 140230070 140230070 + Frame_Shift_Del DEL A A - TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 5 140230070 140230070 A - DEL PCDHA9 ENST00000532602 human ensembl 74_37 +1 known frame_shift_del c.1990 p.T664fs 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 tier1 47 0 0.00 8 2 20.00 PDE4D 0 genome.wustl.edu 37 5 58571194 58571194 + Missense_Mutation SNP G G T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 5 58571194 58571194 G T SNP PDE4D ENST00000503258 human ensembl 74_37 -1 known missense c.35 p.T12K 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 tier1 - - 35 0 0.00 14 4 22.22 PGF 0 genome.wustl.edu 37 14 75413456 75413456 + Missense_Mutation SNP G G T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 14 75413456 75413456 G T SNP PGF ENST00000405431 human ensembl 74_37 -1 known missense c.588 p.N196K 0.000 NULL pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PGF HGNC ENSG00000119630 tier1 - - 90 0 0.00 70 20 22.22 PJA1 0 genome.wustl.edu 37 X 68382750 68382750 + Missense_Mutation SNP C C A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f X 68382750 68382750 C A SNP PJA1 ENST00000361478 human ensembl 74_37 -1 known missense c.332 p.R111I 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 tier1 - - 56 0 0.00 36 21 36.84 PLA2G7 0 genome.wustl.edu 37 6 46684165 46684165 + Missense_Mutation SNP A A G TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 6 46684165 46684165 A G SNP PLA2G7 ENST00000274793 human ensembl 74_37 -1 known missense c.332 p.L111P 1.000 pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote - no_errors PLA2G7 HGNC ENSG00000146070 tier1 - - 48 0 0.00 50 11 18.03 PPP1R15A 0 genome.wustl.edu 37 19 49377829 49377829 + Missense_Mutation SNP G G T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 19 49377829 49377829 G T SNP PPP1R15A ENST00000200453 human ensembl 74_37 +1 known missense c.1339 p.D447Y 0.000 NULL pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15A HGNC ENSG00000087074 tier1 - - 32 0 0.00 27 9 25.00 PRR5L 0 genome.wustl.edu 37 11 36422705 36422705 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 11 36422705 36422705 G A SNP PRR5L ENST00000378867 human ensembl 74_37 +1 known missense c.34 p.E12K 0.949 NULL pfam_HbrB - no_errors PRR5L HGNC ENSG00000135362 tier1 - - 45 0 0.00 29 21 42.00 PTPRD 0 genome.wustl.edu 37 9 8521445 8521445 + Missense_Mutation SNP G G T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 9 8521445 8521445 G T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.793 p.P265T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 - - 29 0 0.00 8 33 80.49 QRFPR 0 genome.wustl.edu 37 4 122261765 122261765 + Missense_Mutation SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 4 122261765 122261765 C T SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known missense c.341 p.G114D 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 34 0 0.00 29 2 6.45 RAPGEF1 0 genome.wustl.edu 37 9 134525617 134525617 + Missense_Mutation SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 9 134525617 134525617 T C SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known missense c.217 p.R73G 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 tier1 - - 44 0 0.00 37 15 28.85 RIMBP3 0 genome.wustl.edu 37 22 20457383 20457383 + Missense_Mutation SNP G G T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 22 20457383 20457383 G T SNP RIMBP3 ENST00000426804 human ensembl 74_37 -1 known missense c.3919 p.P1307T 0.003 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC ENSG00000196622 tier1 rs199673858 - 56 0 0.00 34 5 12.82 RRBP1 0 genome.wustl.edu 37 20 17617273 17617273 + Missense_Mutation SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 20 17617273 17617273 C T SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known missense c.2286 p.M762I 1.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 30 0 0.00 38 2 5.00 RTN1 0 genome.wustl.edu 37 14 60212843 60212843 + Missense_Mutation SNP T T G TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 14 60212843 60212843 T G SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.598 p.T200P 0.127 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 tier1 - - 58 0 0.00 23 17 42.50 SCN2A 0 genome.wustl.edu 37 2 166153528 166153528 + Missense_Mutation SNP C C A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 2 166153528 166153528 C A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.269 p.T90K 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 74 0 0.00 38 32 45.71 SDHAP1 0 genome.wustl.edu 37 3 195689994 195689994 + RNA SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 3 195689994 195689994 T C SNP SDHAP1 ENST00000354559 human ensembl 74_37 -1 known rna NULL NULL 0.428 - - - no_errors SDHAP1 HGNC ENSG00000185485 12 0 0.00 51 4 7.27 SDHAP1 0 genome.wustl.edu 37 3 195690001 195690001 + RNA SNP G G C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 3 195690001 195690001 G C SNP SDHAP1 ENST00000354559 human ensembl 74_37 -1 known rna NULL NULL 0.235 - - - no_errors SDHAP1 HGNC ENSG00000185485 13 0 0.00 57 4 6.56 SH3BP5L 0 genome.wustl.edu 37 1 249107261 249107261 + Missense_Mutation SNP T T A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 1 249107261 249107261 T A SNP SH3BP5L ENST00000366472 human ensembl 74_37 -1 known missense c.638 p.K213M 1.000 pfam_SH3-bd_5 pfam_SH3-bd_5 - no_errors SH3BP5L HGNC ENSG00000175137 tier1 - - 36 0 0.00 50 12 19.35 SIGLEC6 0 genome.wustl.edu 37 19 52034113 52034113 + Silent SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 19 52034113 52034113 C T SNP SIGLEC6 ENST00000425629 human ensembl 74_37 -1 known silent c.528 p.T176 0.001 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC6 HGNC ENSG00000105492 tier1 - - 45 0 0.00 29 12 28.57 SIPA1 0 genome.wustl.edu 37 11 65409978 65409978 + Frame_Shift_Del DEL G G - TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 11 65409978 65409978 G - DEL SIPA1 ENST00000394224 human ensembl 74_37 +1 known frame_shift_del c.852 p.P287fs 0.287 NULL pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 tier1 50 0 0.00 32 2 5.88 SLC39A12 0 genome.wustl.edu 37 10 18292265 18292265 + Missense_Mutation SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 10 18292265 18292265 T C SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.1925 p.L642S 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 tier1 - - 144 0 0.00 123 25 16.89 SNORD116-20 0 genome.wustl.edu 37 15 25332999 25332999 + RNA SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 15 25332999 25332999 T C SNP SNORD116-20 ENST00000567527 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD116-20 HGNC ENSG00000261069 tier1 - - 24 0 0.00 22 12 35.29 SNORD19B 0 genome.wustl.edu 37 3 52724786 52724786 + RNA DEL A A - TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 3 52724786 52724786 A - DEL SNORD19B ENST00000459623 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD19B HGNC ENSG00000238862 tier1 47 0 0.00 11 16 59.26 SPTBN5 0 genome.wustl.edu 37 15 42147090 42147090 + Missense_Mutation SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 15 42147090 42147090 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.9508 p.G3170S 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 32 0 0.00 35 8 18.60 SULT1A1 0 genome.wustl.edu 37 16 28617218 28617218 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 16 28617218 28617218 G A SNP SULT1A1 ENST00000314752 human ensembl 74_37 -1 known missense c.812 p.A271V 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A1 HGNC ENSG00000196502 tier1 - - 35 0 0.00 33 7 17.50 TARS 0 genome.wustl.edu 37 5 33458676 33458676 + Missense_Mutation SNP A A T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 5 33458676 33458676 A T SNP TARS ENST00000265112 human ensembl 74_37 +1 known missense c.990 p.Q330H 0.999 tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 tier1 - - 32 0 0.00 36 7 16.28 TBCK 0 genome.wustl.edu 37 4 107037369 107037369 + Missense_Mutation SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 4 107037369 107037369 T C SNP TBCK ENST00000273980 human ensembl 74_37 -1 known missense c.2402 p.N801S 0.362 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 tier1 - - 129 0 0.00 67 37 35.58 TCF7L1 0 genome.wustl.edu 37 2 85529698 85529698 + Missense_Mutation SNP C C A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 2 85529698 85529698 C A SNP TCF7L1 ENST00000282111 human ensembl 74_37 +1 known missense c.617 p.S206Y 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L1 HGNC ENSG00000152284 tier1 - - 32 0 0.00 41 28 40.58 TCOF1 0 genome.wustl.edu 37 5 149772327 149772327 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 5 149772327 149772327 G A SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known missense c.3685 p.E1229K 0.950 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 tier1 - - 78 0 0.00 27 7 20.59 TMEM127 0 genome.wustl.edu 37 2 96919649 96919649 + Missense_Mutation SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 2 96919649 96919649 T C SNP TMEM127 ENST00000258439 human ensembl 74_37 -1 known missense c.614 p.E205G 1.000 NULL NULL - no_errors TMEM127 HGNC ENSG00000135956 tier1 - - 38 0 0.00 44 20 31.25 TNRC18 0 genome.wustl.edu 37 7 5413711 5413711 + Frame_Shift_Del DEL G G - TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 7 5413711 5413711 G - DEL TNRC18 ENST00000399537 human ensembl 74_37 -1 known frame_shift_del c.3204 p.S1069fs 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 33 0 0.00 36 2 5.26 TP53 0 genome.wustl.edu 37 17 7578370 7578370 + Splice_Site SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 17 7578370 7578370 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.559+1 e4+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 365 0 0.00 88 359 80.13 TTN 0 genome.wustl.edu 37 2 179593015 179593015 + Silent SNP A A G TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 2 179593015 179593015 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.15804 p.A5268 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 - - 12 0 0.00 10 12 54.55 WDFY4 0 genome.wustl.edu 37 10 49951516 49951516 + Silent SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 10 49951516 49951516 G A SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known silent c.2382 p.P794 0.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 34 0 0.00 11 9 45.00 YY1AP1 0 genome.wustl.edu 37 1 155630265 155630265 + Missense_Mutation SNP G G C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 1 155630265 155630265 G C SNP YY1AP1 ENST00000368339 human ensembl 74_37 -1 known missense c.1850 p.S617C 0.685 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 tier1 - - 46 0 0.00 43 24 35.82 ZBTB20 0 genome.wustl.edu 37 3 114099155 114099155 + Silent SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 3 114099155 114099155 C T SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known silent c.108 p.L36 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 tier1 - - 53 0 0.00 56 5 8.20 ZNF208 0 genome.wustl.edu 37 19 22155555 22155555 + Missense_Mutation SNP A A G TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 19 22155555 22155555 A G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2281 p.S761P 0.000 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 ZNF208 HGNC ENSG00000160321 tier1 - - 34 0 0.00 31 22 41.51 ZNF385A 0 genome.wustl.edu 37 12 54764422 54764422 + Silent SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 12 54764422 54764422 G A SNP ZNF385A ENST00000338010 human ensembl 74_37 -1 known silent c.918 p.A306 0.673 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC ENSG00000161642 tier1 - - 17 0 0.00 13 6 31.58 ZNF445 0 genome.wustl.edu 37 3 44489304 44489304 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 3 44489304 44489304 G A SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.1859 p.T620I 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 tier1 - - 60 0 0.00 34 5 12.82 ZNF512B 0 genome.wustl.edu 37 20 62594469 62594469 + Silent SNP C C T TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 20 62594469 62594469 C T SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known silent c.1947 p.V649 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 tier1 - - 32 0 0.00 27 9 25.00 ZNF697 0 genome.wustl.edu 37 1 120165681 120165681 + Missense_Mutation SNP G G A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 1 120165681 120165681 G A SNP ZNF697 ENST00000421812 human ensembl 74_37 -1 known missense c.1285 p.R429C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ENSG00000143067 tier1 - - 35 0 0.00 20 11 34.38 ZSCAN29 0 genome.wustl.edu 37 15 43654034 43654034 + Missense_Mutation SNP C C A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cc69240d-8283-48c1-9eb2-5621f7ab1e28 6ea0b146-106f-426a-a3a0-d043d733a81f 15 43654034 43654034 C A SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known missense c.1796 p.R599L 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 tier1 - - 50 0 0.00 25 10 28.57