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 ABCA2 0 genome.wustl.edu 37 9 139904091 139904091 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 9 139904091 139904091 C A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.6636 p.E2212D 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 tier1 - - 129 0 0.00 25 29 53.70 ACAP2 0 genome.wustl.edu 37 3 195006581 195006581 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 3 195006581 195006581 C T SNP ACAP2 ENST00000326793 human ensembl 74_37 -1 known missense c.2180 p.R727H 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 tier1 - - 40 0 0.00 20 20 50.00 ACOT11 0 genome.wustl.edu 37 1 55070098 55070098 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 55070098 55070098 G T SNP ACOT11 ENST00000371316 human ensembl 74_37 +1 known missense c.1232 p.S411I 0.101 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 39 0 0.00 49 3 5.77 ACP5 0 genome.wustl.edu 37 19 11687567 11687567 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 11687567 11687567 G T SNP ACP5 ENST00000218758 human ensembl 74_37 -1 known missense c.353 p.S118Y 0.834 pfam_PEstase_dom pfam_PEstase_dom - no_errors ACP5 HGNC ENSG00000102575 36 0 0.00 34 3 8.11 ADNP 0 genome.wustl.edu 37 20 49509522 49509522 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 20 49509522 49509522 C T SNP ADNP ENST00000349014 human ensembl 74_37 -1 known missense c.1729 p.E577K 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 tier1 - - 69 0 0.00 80 32 28.57 AFF4 0 genome.wustl.edu 37 5 132270120 132270120 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 132270120 132270120 G T SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.637 p.P213T 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 60 0 0.00 57 4 6.56 AGO2 0 genome.wustl.edu 37 8 141567319 141567319 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 141567319 141567319 C T SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.895 p.E299K 1.000 pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 tier1 - - 62 0 0.00 38 17 30.91 AKAP6 0 genome.wustl.edu 37 14 33291681 33291681 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 14 33291681 33291681 G C SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.4662 p.Q1554H 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 29 0 0.00 59 12 16.90 ALS2CR11 0 genome.wustl.edu 37 2 202357836 202357836 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 202357836 202357836 G C SNP ALS2CR11 ENST00000439140 human ensembl 74_37 -1 novel missense c.3228 p.F1076L 0.002 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 tier1 - - 48 0 0.00 17 25 59.52 AMPD1 0 genome.wustl.edu 37 1 115219977 115219977 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 115219977 115219977 C T SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known silent c.1482 p.R494 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 tier1 - - 58 0 0.00 57 15 20.83 ANK1 0 genome.wustl.edu 37 8 41566347 41566347 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 41566347 41566347 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known silent c.1947 p.E649 0.937 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 39 0 0.00 34 13 27.66 ANKRD26 0 genome.wustl.edu 37 10 27349452 27349452 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 27349452 27349452 G A SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.1528 p.L510F 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 tier1 - - 42 0 0.00 18 37 67.27 ANKRD36C 0 genome.wustl.edu 37 2 96587555 96587555 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 96587555 96587555 G C SNP ANKRD36C ENST00000456556 human ensembl 74_37 -1 known missense c.2147 p.S716C 0.004 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 tier1 - - 61 0 0.00 99 17 14.66 ANXA5 0 genome.wustl.edu 37 4 122593740 122593740 + Missense_Mutation SNP T T A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 122593740 122593740 T A SNP ANXA5 ENST00000296511 human ensembl 74_37 -1 known missense c.573 p.E191D 1.000 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV - no_errors ANXA5 HGNC ENSG00000164111 tier1 - - 70 0 0.00 101 13 11.40 APOD 0 genome.wustl.edu 37 3 195306288 195306288 + Silent SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 3 195306288 195306288 G A SNP APOD ENST00000343267 human ensembl 74_37 -1 known silent c.45 p.F15 0.000 pirsf_Lipocalin_ApoD pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_ApolipopD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac - no_errors APOD HGNC ENSG00000189058 tier1 - - 61 0 0.00 33 16 32.65 ARHGEF9 0 genome.wustl.edu 37 X 62944429 62944429 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 X 62944429 62944429 G T SNP ARHGEF9 ENST00000253401 human ensembl 74_37 -1 known missense c.172 p.P58T 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 34 0 0.00 24 3 11.11 BBS12 0 genome.wustl.edu 37 4 123664621 123664621 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 123664621 123664621 G A SNP BBS12 ENST00000314218 human ensembl 74_37 +1 known missense c.1574 p.R525H 0.994 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 tier1 - - 45 0 0.00 30 12 28.57 BPIFB4 0 genome.wustl.edu 37 20 31680384 31680384 + Missense_Mutation SNP A A G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 20 31680384 31680384 A G SNP BPIFB4 ENST00000375483 human ensembl 74_37 +1 known missense c.1264 p.M422V 1.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 tier1 - - 13 0 0.00 42 12 22.22 BTBD3 0 genome.wustl.edu 37 20 11904297 11904297 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 20 11904297 11904297 C T SNP BTBD3 ENST00000378226 human ensembl 74_37 +1 known missense c.1552 p.L518F 1.000 pfam_PHR pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD3 HGNC ENSG00000132640 53 0 0.00 43 8 15.69 C10orf35 0 genome.wustl.edu 37 10 71391541 71391541 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 71391541 71391541 C T SNP C10orf35 ENST00000373279 human ensembl 74_37 +1 known silent c.42 p.D14 0.937 NULL NULL - no_errors C10orf35 HGNC ENSG00000171224 49 0 0.00 18 2 10.00 C18orf21 0 genome.wustl.edu 37 18 33552863 33552863 + Silent SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 18 33552863 33552863 G T SNP C18orf21 ENST00000592875 human ensembl 74_37 +1 known silent c.93 p.S31 0.045 NULL NULL - no_errors C18orf21 HGNC ENSG00000141428 43 0 0.00 70 4 5.41 C19orf57 0 genome.wustl.edu 37 19 14001054 14001054 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 14001054 14001054 C G SNP C19orf57 ENST00000454313 human ensembl 74_37 -1 known missense c.615 p.Q205H 0.003 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 tier1 - - 63 0 0.00 79 18 18.56 C2orf61 0 genome.wustl.edu 37 2 47317497 47317497 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 47317497 47317497 G T SNP C2orf61 ENST00000445927 human ensembl 74_37 -1 known missense c.536 p.P179Q 1.000 NULL NULL - no_errors C2orf61 HGNC ENSG00000239605 tier1 - - 55 0 0.00 69 4 5.48 C3orf70 0 genome.wustl.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 3 184870595 184870595 G A SNP C3orf70 ENST00000335012 human ensembl 74_37 -1 known missense c.17 p.S6L 0.804 NULL NULL - no_errors C3orf70 HGNC ENSG00000187068 tier1 - - 33 0 0.00 29 9 23.08 C6orf141 0 genome.wustl.edu 37 6 49518881 49518881 + Nonsense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 49518881 49518881 G T SNP C6orf141 ENST00000371194 human ensembl 74_37 +1 known nonsense c.376 p.E126* 0.000 NULL NULL - no_errors C6orf141 HGNC ENSG00000197261 tier1 - - 33 0 0.00 39 17 29.82 CABIN1 0 genome.wustl.edu 37 22 24479322 24479322 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 22 24479322 24479322 G A SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.2890 p.E964K 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 tier1 - - 20 0 0.00 9 12 57.14 CALHM3 0 genome.wustl.edu 37 10 105236173 105236173 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 105236173 105236173 C T SNP CALHM3 ENST00000369783 human ensembl 74_37 -1 known missense c.421 p.A141T 0.998 NULL NULL - no_errors CALHM3 HGNC ENSG00000183128 tier1 - - 48 0 0.00 40 4 9.09 CAMSAP1 0 genome.wustl.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 9 138715799 138715800 - T INS CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known frame_shift_ins c.1430_1429 p.T477fs 0.022:0.003 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 tier1 45 0 0.00 21 3 12.50 CAMTA1 0 genome.wustl.edu 37 1 7724186 7724186 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 7724186 7724186 G A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.1579 p.V527I 0.999 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 24 0 0.00 27 2 6.90 CBLN1 0 genome.wustl.edu 37 16 49313380 49313380 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 49313380 49313380 G A SNP CBLN1 ENST00000219197 human ensembl 74_37 -1 known missense c.517 p.R173W 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 tier1 - - 106 0 0.00 65 18 21.69 CCDC73 0 genome.wustl.edu 37 11 32697502 32697502 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 32697502 32697502 C G SNP CCDC73 ENST00000335185 human ensembl 74_37 -1 known missense c.495 p.E165D 1.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 tier1 - - 52 0 0.00 15 29 65.91 CCDC88B 0 genome.wustl.edu 37 11 64110768 64110768 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 64110768 64110768 C T SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known silent c.1180 p.L394 1.000 pfam_Hook-related_fam pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 tier1 - - 36 0 0.00 44 4 8.16 CD248 0 genome.wustl.edu 37 11 66082958 66082958 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 66082958 66082958 G T SNP CD248 ENST00000311330 human ensembl 74_37 -1 known missense c.1541 p.P514H 0.020 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 48 0 0.00 44 4 8.33 CD7 0 genome.wustl.edu 37 17 80273253 80273253 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 80273253 80273253 C T SNP CD7 ENST00000312648 human ensembl 74_37 -1 known missense c.667 p.E223K 0.862 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD7 HGNC ENSG00000173762 tier1 - - 126 0 0.00 100 19 15.97 CDC42BPA 0 genome.wustl.edu 37 1 227333345 227333345 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 227333345 227333345 C G SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.988 p.G330R 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_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,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 tier1 - - 48 0 0.00 41 14 25.45 CDC42EP2 0 genome.wustl.edu 37 11 65088922 65088922 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 65088922 65088922 G A SNP CDC42EP2 ENST00000279249 human ensembl 74_37 +1 known missense c.553 p.V185M 0.819 pirsf_Cdc42_effector_prot_2 pfam_CRIB_dom,smart_CRIB_dom,pirsf_Cdc42_effector_prot_2,pfscan_CRIB_dom - no_errors CDC42EP2 HGNC ENSG00000149798 tier1 rs145388901 - 38 0 0.00 44 10 18.52 CEP170 0 genome.wustl.edu 37 1 243303405 243303405 + Missense_Mutation SNP A A C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 243303405 243303405 A C SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known missense c.4064 p.V1355G 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 tier1 - - 90 0 0.00 97 37 27.61 CERS3 0 genome.wustl.edu 37 15 101013168 101013168 + Silent SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 15 101013168 101013168 G T SNP CERS3 ENST00000284382 human ensembl 74_37 -1 known silent c.699 p.L233 0.904 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS3 HGNC ENSG00000154227 tier1 - - 53 0 0.00 50 4 7.41 CFHR2 0 genome.wustl.edu 37 1 196928158 196928158 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 196928158 196928158 G A SNP CFHR2 ENST00000367415 human ensembl 74_37 +1 known missense c.761 p.R254Q 0.000 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 CFHR2 HGNC ENSG00000080910 tier1 - - 11 0 0.00 20 10 33.33 CHD8 0 genome.wustl.edu 37 14 21873596 21873596 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 14 21873596 21873596 G T SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.3079 p.P1027T 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 24 0 0.00 73 4 5.19 CHRNB4 0 genome.wustl.edu 37 15 78921615 78921615 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 15 78921615 78921615 G T SNP CHRNB4 ENST00000261751 human ensembl 74_37 -1 known missense c.1032 p.F344L 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 tier1 - - 70 0 0.00 24 26 52.00 CLRN2 0 genome.wustl.edu 37 4 17517125 17517125 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 17517125 17517125 G T SNP CLRN2 ENST00000511148 human ensembl 74_37 +1 known missense c.236 p.R79L 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors CLRN2 HGNC ENSG00000249581 26 0 0.00 32 2 5.88 CNTN1 0 genome.wustl.edu 37 12 41333274 41333274 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 12 41333274 41333274 G T SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.1366 p.V456F 0.984 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 44 0 0.00 71 5 6.58 CNTNAP3 0 genome.wustl.edu 37 9 39174372 39174372 + RNA SNP T T A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 9 39174372 39174372 T A SNP CNTNAP3 ENST00000377653 human ensembl 74_37 -1 known rna NULL NULL 0.776 - - - no_errors CNTNAP3 HGNC ENSG00000106714 tier1 rs200822754 - 52 0 0.00 46 5 9.80 COL21A1 0 genome.wustl.edu 37 6 55925539 55925539 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 55925539 55925539 C A SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known missense c.2407 p.A803S 1.000 NULL 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 tier1 - - 38 0 0.00 53 12 18.46 COL4A6 0 genome.wustl.edu 37 X 107408226 107408226 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 X 107408226 107408226 G C SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.3854 p.S1285C 0.995 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 tier1 - - 22 0 0.00 9 23 71.88 COLEC12 0 genome.wustl.edu 37 18 333120 333120 + Missense_Mutation SNP A A T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 18 333120 333120 A T SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.1840 p.F614I 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 tier1 - - 41 0 0.00 44 13 22.81 CORO7-PAM16 0 genome.wustl.edu 37 16 4407996 4407996 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 4407996 4407996 T C SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.2566 p.S856G 1.000 pfam_DUF1900 pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 tier1 - - 44 0 0.00 13 28 68.29 CPLX1 0 genome.wustl.edu 37 4 786256 786256 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 786256 786256 C T SNP CPLX1 ENST00000304062 human ensembl 74_37 -1 known missense c.172 p.E58K 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX1 HGNC ENSG00000168993 30 0 0.00 22 7 24.14 CPS1 0 genome.wustl.edu 37 2 211441123 211441123 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 211441123 211441123 C T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.308 p.A103V 1.000 pfam_CarbamoylP_synth_ssu_N,superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 62 0 0.00 56 3 5.08 CRNN 0 genome.wustl.edu 37 1 152384689 152384689 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 152384689 152384689 G C SNP CRNN ENST00000271835 human ensembl 74_37 -1 known missense c.21 p.N7K 0.944 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CRNN HGNC ENSG00000143536 tier1 - - 56 0 0.00 48 19 28.36 CYLD 0 genome.wustl.edu 37 16 50818332 50818332 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 50818332 50818332 T C SNP CYLD ENST00000311559 human ensembl 74_37 +1 known missense c.1919 p.L640P 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 tier1 - - 70 0 0.00 103 6 5.50 CYP51A1 0 genome.wustl.edu 37 7 91743159 91743160 + Splice_Site INS - - A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 91743159 91743160 - A INS CYP51A1 ENST00000003100 human ensembl 74_37 -1 known splice_site_ins c.1352-3_1352-2 e10-2 0.998:0.001 - - - no_errors CYP51A1 HGNC ENSG00000001630 tier1 20 0 0.00 26 2 7.14 DCAF5 0 genome.wustl.edu 37 14 69520682 69520682 + Silent SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 14 69520682 69520682 T C SNP DCAF5 ENST00000341516 human ensembl 74_37 -1 known silent c.2721 p.T907 0.275 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 54 0 0.00 53 4 7.02 DCBLD2 0 genome.wustl.edu 37 3 98518298 98518298 + Missense_Mutation SNP A A G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 3 98518298 98518298 A G SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known missense c.2288 p.V763A 0.997 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 tier1 - - 47 0 0.00 60 19 24.05 DCUN1D3 0 genome.wustl.edu 37 16 20873771 20873771 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 20873771 20873771 G T SNP DCUN1D3 ENST00000324344 human ensembl 74_37 -1 known missense c.90 p.S30R 0.994 NULL pfam_PONY_dom - no_errors DCUN1D3 HGNC ENSG00000188215 tier1 - - 58 0 0.00 40 4 9.09 DENND2C 0 genome.wustl.edu 37 1 115127988 115127989 + RNA INS - - A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 115127988 115127989 - A INS DENND2C ENST00000495031 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DENND2C HGNC ENSG00000175984 tier1 13 0 0.00 28 6 17.65 DLG2 0 genome.wustl.edu 37 11 83877920 83877920 + RNA SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 83877920 83877920 C A SNP DLG2 ENST00000524941 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DLG2 HGNC ENSG00000150672 tier1 - - 50 0 0.00 41 34 45.33 DMXL1 0 genome.wustl.edu 37 5 118506235 118506235 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 118506235 118506235 G T SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.5749 p.D1917Y 0.789 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 tier1 - - 50 0 0.00 53 4 7.02 DNAH5 0 genome.wustl.edu 37 5 13864573 13864573 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 13864573 13864573 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.4529 p.G1510E 1.000 pfam_Dynein_heavy_dom-2 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 - - 37 0 0.00 130 8 5.80 DNAH6 0 genome.wustl.edu 37 2 84937415 84937415 + Missense_Mutation SNP A A C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 84937415 84937415 A C SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known missense c.9257 p.N3086T 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 tier1 rs61752525 - 36 0 0.00 37 20 35.09 DNAJC12 0 genome.wustl.edu 37 10 69565494 69565494 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 69565494 69565494 C G SNP DNAJC12 ENST00000225171 human ensembl 74_37 -1 known missense c.349 p.D117H 0.770 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC12 HGNC ENSG00000108176 tier1 - - 68 0 0.00 78 5 6.02 DOCK9 0 genome.wustl.edu 37 13 99607799 99607799 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 13 99607799 99607799 G T SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.136 p.P46T 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 tier1 - - 54 0 0.00 48 4 7.69 DSE 0 genome.wustl.edu 37 6 116579745 116579745 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 116579745 116579745 G C SNP DSE ENST00000540275 human ensembl 74_37 +1 known missense c.139 p.D47H 1.000 NULL NULL - no_errors DSE HGNC ENSG00000111817 tier1 - - 30 0 0.00 4 12 75.00 DTX2 0 genome.wustl.edu 37 7 76129758 76129758 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 76129758 76129758 G A SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known missense c.1151 p.G384E 0.938 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 tier1 rs147644708 - 29 0 0.00 12 5 29.41 DYSF 0 genome.wustl.edu 37 2 71801357 71801357 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 71801357 71801357 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.3297 p.G1099 1.000 smart_Peroxin/Ferlin pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 74 0 0.00 20 58 65.91 EFHC2 0 genome.wustl.edu 37 X 44007976 44007976 + RNA SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 X 44007976 44007976 C G SNP EFHC2 ENST00000343571 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors EFHC2 HGNC ENSG00000183690 tier1 - - 33 0 0.00 13 24 64.86 EIF3A 0 genome.wustl.edu 37 10 120801701 120801701 + Silent SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 120801701 120801701 G T SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known silent c.3331 p.R1111 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 44 0 0.00 40 3 6.98 EIF5B 0 genome.wustl.edu 37 2 100015804 100015804 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 100015804 100015804 G T SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.3590 p.W1197L 1.000 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 tier1 - - 43 0 0.00 76 4 5.00 EMB 0 genome.wustl.edu 37 5 49736952 49736952 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 49736952 49736952 C T SNP EMB ENST00000303221 human ensembl 74_37 -1 known missense c.34 p.A12T 0.020 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors EMB HGNC ENSG00000170571 tier1 - - 20 0 0.00 10 8 44.44 ENSG00000215953 0 genome.wustl.edu 37 5 84823942 84823942 + RNA SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 84823942 84823942 G A SNP ENSG00000215953 ENST00000401134 human ensembl 74_37 -1 novel rna NULL NULL 0.022 - - - no_errors AC026700.1 Clone_based_ensembl_gene ENSG00000215953 tier1 - - 33 0 0.00 32 5 13.16 ENSG00000222374 0 genome.wustl.edu 37 10 28599876 28599876 + RNA SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 28599876 28599876 C A SNP ENSG00000222374 ENST00000410442 human ensembl 74_37 +1 novel rna NULL NULL 0.034 - - - no_errors AC022021.1 Clone_based_ensembl_gene ENSG00000222374 tier1 - - 34 0 0.00 53 13 19.70 ENSG00000229047 0 genome.wustl.edu 37 21 16333779 16333779 + RNA SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 21 16333779 16333779 T C SNP ENSG00000229047 ENST00000446301 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors AF127577.10 Clone_based_vega_gene ENSG00000229047 tier1 - - 44 0 0.00 20 11 35.48 ENSG00000239069 0 genome.wustl.edu 37 7 74312033 74312033 + RNA SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 74312033 74312033 G A SNP ENSG00000239069 ENST00000459002 human ensembl 74_37 +1 novel rna NULL NULL 0.051 - - - no_errors Y_RNA RFAM ENSG00000239069 tier1 - - 35 0 0.00 34 4 10.53 ENSG00000244227 0 genome.wustl.edu 37 3 167630684 167630684 + RNA SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 3 167630684 167630684 G A SNP ENSG00000244227 ENST00000459923 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-298O21.5 Clone_based_vega_gene ENSG00000244227 tier1 - - 61 0 0.00 63 16 20.25 ENSG00000255860 0 genome.wustl.edu 37 11 71883646 71883646 + RNA SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 71883646 71883646 G A SNP ENSG00000255860 ENST00000539482 human ensembl 74_37 +1 known rna NULL NULL 0.039 - - - no_errors RP11-807H22.6 Clone_based_vega_gene ENSG00000255860 tier1 - - 33 0 0.00 24 8 25.00 ENSG00000261971 0 genome.wustl.edu 37 16 3105828 3105828 + RNA SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 3105828 3105828 C G SNP ENSG00000261971 ENST00000570949 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-473M20.7 Clone_based_vega_gene ENSG00000261971 tier1 - - 32 0 0.00 12 29 70.73 EPS15 0 genome.wustl.edu 37 1 51875221 51875221 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 51875221 51875221 C T SNP EPS15 ENST00000371733 human ensembl 74_37 -1 known missense c.1261 p.E421K 1.000 NULL smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 tier1 - - 51 0 0.00 68 4 5.56 ERBB2IP 0 genome.wustl.edu 37 5 65350089 65350089 + Nonsense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 65350089 65350089 C A SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known nonsense c.2943 p.Y981* 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 tier1 - - 21 0 0.00 23 7 23.33 ERCC1 0 genome.wustl.edu 37 19 45922395 45922395 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 45922395 45922395 C A SNP ERCC1 ENST00000013807 human ensembl 74_37 -1 known missense c.486 p.K162N 1.000 pfam_DNA_repair_Rad10,superfamily_Restrct_endonuc-II-like,tigrfam_DNA_repair_Rad10 pfam_DNA_repair_Rad10,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,tigrfam_DNA_repair_Rad10 - no_errors ERCC1 HGNC ENSG00000012061 tier1 - - 26 0 0.00 16 11 40.74 ERVK13-1 0 genome.wustl.edu 37 16 2712500 2712501 + RNA INS - - T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 2712500 2712501 - T INS ERVK13-1 ENST00000568395 human ensembl 74_37 -1 known rna NULL NULL 0.093:0.090 - - - no_errors ERVK13-1 HGNC ENSG00000260565 tier1 47 0 0.00 25 4 13.79 ESPNP 0 genome.wustl.edu 37 1 17017676 17017676 + RNA SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 17017676 17017676 C T SNP ESPNP ENST00000414828 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ESPNP HGNC ENSG00000268869 tier1 - - 151 0 0.00 120 46 27.71 ETFDH 0 genome.wustl.edu 37 4 159627784 159627784 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 159627784 159627784 C T SNP ETFDH ENST00000511912 human ensembl 74_37 +1 known missense c.1472 p.S491F 0.042 pfam_ETFD_OxRdtase pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors ETFDH HGNC ENSG00000171503 tier1 - - 57 0 0.00 23 27 54.00 FAM151A 0 genome.wustl.edu 37 1 55089016 55089016 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 55089016 55089016 C T SNP FAM151A ENST00000302250 human ensembl 74_37 -1 known missense c.53 p.G18D 0.002 NULL pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 50 0 0.00 54 3 5.26 FAM178A 0 genome.wustl.edu 37 10 102672870 102672870 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 102672870 102672870 G T SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 tier1 - - 44 0 0.00 49 4 7.55 FBN1 0 genome.wustl.edu 37 15 48714182 48714182 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 15 48714182 48714182 G T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.7537 p.P2513T 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 37 0 0.00 37 13 26.00 FHOD3 0 genome.wustl.edu 37 18 34298670 34298670 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 18 34298670 34298670 G T SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.2884 p.V962F 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 27 0 0.00 24 3 11.11 FLJ34503 0 genome.wustl.edu 37 6 114238199 114238199 + RNA SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 114238199 114238199 C T SNP FLJ34503 ENST00000314481 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors RP11-544L8__B.4 Clone_based_vega_gene ENSG00000175967 tier1 - - 25 0 0.00 6 9 60.00 FLNB 0 genome.wustl.edu 37 3 58089741 58089741 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 3 58089741 58089741 C G SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.1539 p.F513L 0.974 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 tier1 - - 74 0 0.00 23 27 52.94 FMN2 0 genome.wustl.edu 37 1 240421329 240421329 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 240421329 240421329 C G SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4150 p.H1384D 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 41 0 0.00 48 13 21.31 FNIP1 0 genome.wustl.edu 37 5 131042140 131042140 + Missense_Mutation SNP T T A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 131042140 131042140 T A SNP FNIP1 ENST00000510461 human ensembl 74_37 -1 known missense c.878 p.Q293L 1.000 NULL NULL - no_errors FNIP1 HGNC ENSG00000217128 tier1 - - 58 0 0.00 42 7 14.29 FTSJ3 0 genome.wustl.edu 37 17 61897353 61897353 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 61897353 61897353 G T SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.2353 p.L785I 1.000 pfam_rRNA_MeTfrase_Spb1_C pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 tier1 - - 65 0 0.00 71 4 5.33 FZD5 0 genome.wustl.edu 37 2 208632719 208632719 + Missense_Mutation SNP A A G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 208632719 208632719 A G SNP FZD5 ENST00000295417 human ensembl 74_37 -1 known missense c.745 p.S249P 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC ENSG00000163251 42 0 0.00 35 3 7.89 GABRB1 0 genome.wustl.edu 37 4 47163327 47163327 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 47163327 47163327 G C SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known missense c.302 p.G101A 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAb_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 tier1 - - 56 0 0.00 84 21 19.81 GABRB1 0 genome.wustl.edu 37 4 47408746 47408746 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 47408746 47408746 G A SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known missense c.883 p.E295K 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 tier1 - - 38 0 0.00 61 14 18.67 GAREM 0 genome.wustl.edu 37 18 29868054 29868054 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 18 29868054 29868054 T C SNP GAREM ENST00000269209 human ensembl 74_37 -1 known missense c.506 p.K169R 1.000 NULL superfamily_SAM/pointed - no_errors GAREM HGNC ENSG00000141441 tier1 - - 57 0 0.00 60 16 21.05 GCC2 0 genome.wustl.edu 37 2 109067569 109067569 + Splice_Site SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 109067569 109067569 G A SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known splice_site c.148+1 e3+1 1.000 - - - no_errors GCC2 HGNC ENSG00000135968 tier1 - - 60 0 0.00 68 60 46.88 GJB6 0 genome.wustl.edu 37 13 20797357 20797357 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 13 20797357 20797357 G A SNP GJB6 ENST00000241124 human ensembl 74_37 -1 known missense c.263 p.A88V 0.991 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB6 HGNC ENSG00000121742 40 0 0.00 34 2 5.56 GLUL 0 genome.wustl.edu 37 1 182354682 182354682 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 182354682 182354682 G C SNP GLUL ENST00000311223 human ensembl 74_37 -1 known missense c.613 p.Q205E 1.000 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors GLUL HGNC ENSG00000135821 tier1 - - 34 0 0.00 24 4 14.29 GPR137B 0 genome.wustl.edu 37 1 236306222 236306222 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 236306222 236306222 C A SNP GPR137B ENST00000366592 human ensembl 74_37 +1 known missense c.300 p.F100L 1.000 NULL NULL - no_errors GPR137B HGNC ENSG00000077585 21 0 0.00 17 2 10.53 GPRC5B 0 genome.wustl.edu 37 16 19883970 19883970 + Silent SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 19883970 19883970 G A SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known silent c.276 p.G92 0.866 pfam_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 tier1 - - 92 0 0.00 56 15 21.13 GPSM1 0 genome.wustl.edu 37 9 139244051 139244051 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 9 139244051 139244051 G A SNP GPSM1 ENST00000440944 human ensembl 74_37 +1 known missense c.1291 p.D431N 1.000 NULL pfam_GoLoco_motif,pfam_TPR_1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM1 HGNC ENSG00000160360 tier1 - - 69 0 0.00 30 23 43.40 GRIP1 0 genome.wustl.edu 37 12 66838411 66838411 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 12 66838411 66838411 G A SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.1640 p.S547F 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 tier1 - - 74 0 0.00 93 6 6.06 GRK5 0 genome.wustl.edu 37 10 121182726 121182726 + Nonsense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 121182726 121182726 G T SNP GRK5 ENST00000392870 human ensembl 74_37 +1 known nonsense c.388 p.E130* 0.998 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK5 HGNC ENSG00000198873 tier1 - - 66 0 0.00 48 4 7.69 GTF2F1 0 genome.wustl.edu 37 19 6381858 6381858 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 6381858 6381858 C T SNP GTF2F1 ENST00000394456 human ensembl 74_37 -1 known missense c.686 p.G229D 0.892 pfam_TFIIF-alpha,superfamily_TFIIF_interaction pfam_TFIIF-alpha,superfamily_TFIIF_interaction - no_errors GTF2F1 HGNC ENSG00000125651 59 0 0.00 32 3 8.57 GYS1 0 genome.wustl.edu 37 19 49481244 49481244 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 49481244 49481244 G T SNP GYS1 ENST00000323798 human ensembl 74_37 -1 known missense c.1245 p.D415E 1.000 pfam_Glycogen_synth pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 tier1 - - 57 0 0.00 48 4 7.69 GZF1 0 genome.wustl.edu 37 20 23345551 23345551 + Silent SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 20 23345551 23345551 C G SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known silent c.531 p.L177 0.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 tier1 - - 36 0 0.00 34 19 35.85 HELZ 0 genome.wustl.edu 37 17 65074534 65074534 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 65074534 65074534 G T SNP HELZ ENST00000358691 human ensembl 74_37 -1 known missense c.5663 p.A1888E 0.001 NULL pfam_Znf_CCCH,superfamily_P-loop_NTPase,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 32 0 0.00 47 4 7.69 HERC1 0 genome.wustl.edu 37 15 64021787 64021787 + Nonsense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 15 64021787 64021787 G T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known nonsense c.2930 p.S977* 0.997 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 45 0 0.00 44 4 8.33 HIST1H4C 0 genome.wustl.edu 37 6 26104467 26104467 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 26104467 26104467 C T SNP HIST1H4C ENST00000377803 human ensembl 74_37 +1 known silent c.292 p.L98 1.000 superfamily_Histone-fold,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4C HGNC ENSG00000197061 tier1 - - 35 0 0.00 33 4 10.81 HIST1H4L 0 genome.wustl.edu 37 6 27841093 27841093 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 27841093 27841093 C G SNP HIST1H4L ENST00000355981 human ensembl 74_37 -1 known missense c.196 p.V66L 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4L HGNC ENSG00000198558 tier1 - - 85 0 0.00 68 19 21.84 HIVEP2 0 genome.wustl.edu 37 6 143091068 143091068 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 143091068 143091068 C A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.4808 p.R1603L 0.630 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 25 0 0.00 35 2 5.41 HIVEP3 0 genome.wustl.edu 37 1 42047900 42047900 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 42047900 42047900 C G SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.2569 p.E857Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 39 0 0.00 32 17 34.69 HLA-A 0 genome.wustl.edu 37 6 29910769 29910769 + Silent SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 29910769 29910769 G A SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known silent c.309 p.G103 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 tier1 - - 48 0 0.00 17 17 50.00 HOMEZ 0 genome.wustl.edu 37 14 23745409 23745409 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 14 23745409 23745409 C G SNP HOMEZ ENST00000431326 human ensembl 74_37 -1 known missense c.1034 p.R345T 0.007 NULL superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 tier1 - - 27 0 0.00 53 10 15.87 HSF2 0 genome.wustl.edu 37 6 122743335 122743335 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 122743335 122743335 G T SNP HSF2 ENST00000368455 human ensembl 74_37 +1 known missense c.722 p.R241M 1.000 pfam_Vert_HSTF_C pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF2 HGNC ENSG00000025156 49 0 0.00 69 4 5.48 HTRA4 0 genome.wustl.edu 37 8 38831859 38831859 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 38831859 38831859 T C SNP HTRA4 ENST00000302495 human ensembl 74_37 +1 known missense c.77 p.V26A 0.000 NULL pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA4 HGNC ENSG00000169495 tier1 - - 43 0 0.00 37 34 47.89 HYDIN 0 genome.wustl.edu 37 16 70884449 70884449 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 70884449 70884449 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.12553 p.E4185K 0.831 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 34 0 0.00 12 29 70.73 IFNAR1 0 genome.wustl.edu 37 21 34713474 34713474 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 21 34713474 34713474 C T SNP IFNAR1 ENST00000270139 human ensembl 74_37 +1 known missense c.370 p.R124C 0.001 superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC ENSG00000142166 tier1 rs142890975 - 29 0 0.00 40 6 13.04 IGHMBP2 0 genome.wustl.edu 37 11 68701368 68701368 + Silent SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 68701368 68701368 G A SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known silent c.1524 p.S508 0.467 superfamily_P-loop_NTPase,tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 tier1 - - 100 0 0.00 178 24 11.88 IPO5 0 genome.wustl.edu 37 13 98660331 98660331 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 13 98660331 98660331 G A SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1789 p.D597N 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 tier1 - - 28 0 0.00 9 30 76.92 ISX 0 genome.wustl.edu 37 22 35481509 35481509 + Silent SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 22 35481509 35481509 G T SNP ISX ENST00000308700 human ensembl 74_37 +1 known silent c.561 p.S187 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ISX HGNC ENSG00000175329 24 0 0.00 36 2 5.26 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42138148 42138148 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 15 42138148 42138148 G C SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.2196 p.W732C 1.000 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_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 - - 61 0 0.00 16 36 69.23 KCNA3 0 genome.wustl.edu 37 1 111215886 111215886 + Nonsense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 111215886 111215886 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known nonsense c.1546 p.R516* 1.000 NULL 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 - - 47 0 0.00 11 17 60.71 KCNQ3 0 genome.wustl.edu 37 8 133141661 133141661 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 133141661 133141661 C A SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.2467 p.G823W 1.000 pfam_Ankyrin-G_BS 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 - - 27 0 0.00 28 14 33.33 KDM4D 0 genome.wustl.edu 37 11 94730891 94730891 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 94730891 94730891 G A SNP KDM4D ENST00000335080 human ensembl 74_37 +1 known missense c.355 p.E119K 0.974 NULL pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4D HGNC ENSG00000186280 tier1 - - 36 0 0.00 45 6 11.76 KHDRBS3 0 genome.wustl.edu 37 8 136594204 136594204 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 136594204 136594204 G A SNP KHDRBS3 ENST00000355849 human ensembl 74_37 +1 known missense c.695 p.R232Q 0.991 NULL smart_KH_dom - no_errors KHDRBS3 HGNC ENSG00000131773 tier1 - - 40 0 0.00 34 31 47.69 KIAA0319 0 genome.wustl.edu 37 6 24572926 24572926 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 24572926 24572926 C T SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.1735 p.G579R 1.000 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 tier1 - - 36 0 0.00 23 15 39.47 KIAA0586 0 genome.wustl.edu 37 14 58924677 58924677 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 14 58924677 58924677 C G SNP KIAA0586 ENST00000556134 human ensembl 74_37 +1 known missense c.1518 p.I506M 0.998 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 tier1 - - 50 0 0.00 33 9 21.43 KIAA0895 0 genome.wustl.edu 37 7 36373465 36373465 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 36373465 36373465 C A SNP KIAA0895 ENST00000297063 human ensembl 74_37 -1 known missense c.1306 p.G436W 1.000 pfam_DUF1704 pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 tier1 - - 58 0 0.00 12 37 75.51 KIAA1161 0 genome.wustl.edu 37 9 34371966 34371966 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 9 34371966 34371966 G T SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known missense c.874 p.R292S 0.999 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 19 0 0.00 30 4 11.76 KIAA1324L 0 genome.wustl.edu 37 7 86569422 86569422 + Nonsense_Mutation SNP T T A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 86569422 86569422 T A SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known nonsense c.751 p.K251* 1.000 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 tier1 - - 47 0 0.00 29 51 63.75 KIAA1328 0 genome.wustl.edu 37 18 34740346 34740346 + Splice_Site SNP T T A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 18 34740346 34740346 T A SNP KIAA1328 ENST00000280020 human ensembl 74_37 +1 known splice_site c.1414+2 e8+2 1.000 - - - no_errors KIAA1328 HGNC ENSG00000150477 tier1 - - 54 0 0.00 37 18 32.73 KIAA1731 0 genome.wustl.edu 37 11 93420958 93420958 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 93420958 93420958 G T SNP KIAA1731 ENST00000411936 human ensembl 74_37 +1 known missense c.1263 p.E421D 0.441 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 tier1 - - 72 0 0.00 59 4 6.35 KIAA2026 0 genome.wustl.edu 37 9 5922290 5922290 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 9 5922290 5922290 G T SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel missense c.3706 p.L1236M 0.965 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 tier1 - - 64 0 0.00 68 4 5.56 KIF15 0 genome.wustl.edu 37 3 44819628 44819628 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 3 44819628 44819628 G T SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known missense c.268 p.A90S 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 KIF15 HGNC ENSG00000163808 tier1 - - 72 0 0.00 73 4 5.19 KIF26B 0 genome.wustl.edu 37 1 245849901 245849901 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 245849901 245849901 C T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.3616 p.R1206C 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 KIF26B HGNC ENSG00000162849 tier1 - - 61 0 0.00 33 14 29.79 KIF26B 0 genome.wustl.edu 37 1 245865859 245865862 + Frame_Shift_Del DEL CCCA CCCA - TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 CCCA CCCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 245865859 245865862 CCCA - DEL KIF26B ENST00000407071 human ensembl 74_37 +1 known frame_shift_del c.6278_6281 p.A2093fs 1.000:0.270:0.995:0.995 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 tier1 54 0 0.00 43 5 10.42 KIF26B 0 genome.wustl.edu 37 1 245865863 245865864 + Frame_Shift_Ins INS - - G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 245865863 245865864 - G INS KIF26B ENST00000407071 human ensembl 74_37 +1 known frame_shift_ins c.6282_6283 p.L2094fs 0.646:0.999 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 tier1 60 0 0.00 43 5 10.42 KIF26B 0 genome.wustl.edu 37 1 245865864 245865864 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 245865864 245865864 C A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.6283 p.L2095I 0.999 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 tier1 - - 60 0 0.00 44 5 10.20 KLHL2 0 genome.wustl.edu 37 4 166220690 166220690 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 166220690 166220690 G A SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known missense c.803 p.S268N 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,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 KLHL2 HGNC ENSG00000109466 tier1 - - 61 0 0.00 21 32 60.38 KLHL25 0 genome.wustl.edu 37 15 86311930 86311930 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 15 86311930 86311930 G A SNP KLHL25 ENST00000337975 human ensembl 74_37 -1 known missense c.1112 p.A371V 0.995 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 49 0 0.00 25 2 7.41 KMT2E 0 genome.wustl.edu 37 7 104730616 104730616 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 104730616 104730616 C A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.1519 p.Q507K 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 - - 50 0 0.00 68 5 6.85 KPNA6 0 genome.wustl.edu 37 1 32632773 32632773 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 32632773 32632773 G T SNP KPNA6 ENST00000545542 human ensembl 74_37 +1 known missense c.1135 p.V379F 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 tier1 - - 60 0 0.00 74 4 5.13 KRT10 0 genome.wustl.edu 37 17 38975315 38975315 + Missense_Mutation SNP T T G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 38975315 38975315 T G SNP KRT10 ENST00000269576 human ensembl 74_37 -1 known missense c.1472 p.H491P 0.060 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 13 0 0.00 16 4 19.05 KRT10 0 genome.wustl.edu 37 17 38975316 38975316 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 38975316 38975316 G A SNP KRT10 ENST00000269576 human ensembl 74_37 -1 known missense c.1471 p.H491Y 0.001 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 13 0 0.00 15 4 21.05 KRT10 0 genome.wustl.edu 37 17 38975317 38975317 + Silent SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 38975317 38975317 G A SNP KRT10 ENST00000269576 human ensembl 74_37 -1 known silent c.1470 p.G490 0.098 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 12 0 0.00 12 5 27.78 LACC1 0 genome.wustl.edu 37 13 44456456 44456456 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 13 44456456 44456456 C T SNP LACC1 ENST00000325686 human ensembl 74_37 +1 known missense c.698 p.A233V 0.920 pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC ENSG00000179630 tier1 - - 37 0 0.00 27 17 38.64 LARP4B 0 genome.wustl.edu 37 10 909779 909779 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 909779 909779 C T SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known missense c.334 p.A112T 0.227 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 tier1 - - 29 0 0.00 33 27 45.00 LATS2 0 genome.wustl.edu 37 13 21557918 21557918 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 13 21557918 21557918 G T SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.1927 p.Q643K 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 23 0 0.00 28 2 6.67 LAYN 0 genome.wustl.edu 37 11 111430916 111430916 + Silent SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 111430916 111430916 C G SNP LAYN ENST00000375615 human ensembl 74_37 +1 known silent c.882 p.V294 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 tier1 - - 43 0 0.00 24 3 11.11 LBX2 0 genome.wustl.edu 37 2 74725123 74725123 + Silent SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 74725123 74725123 G C SNP LBX2 ENST00000377566 human ensembl 74_37 -1 known silent c.528 p.L176 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors LBX2 HGNC ENSG00000179528 tier1 - - 114 0 0.00 44 90 67.16 LINC00115 0 genome.wustl.edu 37 1 762524 762524 + RNA SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 762524 762524 G C SNP LINC00115 ENST00000473798 human ensembl 74_37 -1 known rna NULL NULL 0.523 - - - no_errors LINC00115 HGNC ENSG00000225880 tier1 - - 89 0 0.00 78 14 15.22 LINC00514 0 genome.wustl.edu 37 16 3041080 3041080 + RNA SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 3041080 3041080 C T SNP LINC00514 ENST00000571152 human ensembl 74_37 +1 known rna NULL NULL 0.391 - - - no_errors LINC00514 HGNC ENSG00000262152 tier1 - - 46 0 0.00 11 18 62.07 LINC00618 0 genome.wustl.edu 37 14 97411612 97411612 + RNA SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 14 97411612 97411612 G A SNP LINC00618 ENST00000435624 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00618 HGNC ENSG00000225163 tier1 - - 52 0 0.00 30 11 26.83 LINC00936 0 genome.wustl.edu 37 12 90103606 90103606 + RNA SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 12 90103606 90103606 C G SNP LINC00936 ENST00000605386 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors LINC00936 HGNC ENSG00000271614 tier1 - - 34 0 0.00 19 4 17.39 LMX1B 0 genome.wustl.edu 37 9 129377702 129377702 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 9 129377702 129377702 G T SNP LMX1B ENST00000355497 human ensembl 74_37 +1 known missense c.180 p.Q60H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1B HGNC ENSG00000136944 tier1 - - 62 0 0.00 48 4 7.69 LOC100128374 0 genome.wustl.edu 37 7 1885473 1885473 + RNA SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 1885473 1885473 G T SNP LOC100128374 ENST00000480694 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors AC110781.3 Clone_based_vega_gene ENSG00000176349 tier1 - - 38 0 0.00 38 4 9.52 LOC100506365 0 genome.wustl.edu 37 8 92082397 92082397 + RNA SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 92082397 92082397 C T SNP LOC100506365 ENST00000524003 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GS1-251I9.4 Clone_based_vega_gene ENSG00000253738 tier1 - - 12 0 0.00 8 4 33.33 LOC100506679 0 genome.wustl.edu 37 22 43435575 43435576 + RNA INS - - AAA TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 22 43435575 43435576 - AAA INS LOC100506679 ENST00000443063 human ensembl 74_37 +1 known rna NULL NULL 0.009:0.002 - - - no_errors AL022476.2 Clone_based_vega_gene ENSG00000230319 tier1 10 0 0.00 8 6 42.86 LOC101928590 0 genome.wustl.edu 37 4 176733208 176733208 + RNA SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 176733208 176733208 G A SNP LOC101928590 ENST00000514864 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-806K15.1 Clone_based_vega_gene ENSG00000249106 tier1 - - 18 0 0.00 25 9 26.47 LOC150776 0 genome.wustl.edu 37 2 132250426 132250426 + RNA SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 132250426 132250426 G T SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 tier1 - - 142 0 0.00 62 30 32.61 LRFN5 0 genome.wustl.edu 37 14 42357021 42357021 + Nonsense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 14 42357021 42357021 C G SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known nonsense c.1193 p.S398* 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 31 0 0.00 39 19 32.76 LRIT3 0 genome.wustl.edu 37 4 110791095 110791095 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 110791095 110791095 T C SNP LRIT3 ENST00000594814 human ensembl 74_37 +1 known missense c.1190 p.F397S 0.012 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT3 HGNC ENSG00000183423 80 0 0.00 107 6 5.26 LRP1B 0 genome.wustl.edu 37 2 141267497 141267497 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 141267497 141267497 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.8398 p.A2800T 1.000 smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 18 0 0.00 4 12 75.00 LRRC32 0 genome.wustl.edu 37 11 76371217 76371217 + Missense_Mutation SNP A A C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 76371217 76371217 A C SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.1420 p.S474A 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 tier1 - - 27 0 0.00 24 6 20.00 LRRK1 0 genome.wustl.edu 37 15 101549252 101549252 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 15 101549252 101549252 G A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.973 p.E325K 0.999 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 tier1 - - 12 0 0.00 5 13 72.22 LSR 0 genome.wustl.edu 37 19 35758275 35758275 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 35758275 35758275 G A SNP LSR ENST00000361790 human ensembl 74_37 +1 known missense c.1552 p.G518R 0.950 NULL pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LSR HGNC ENSG00000105699 11 0 0.00 16 4 20.00 LTBP4 0 genome.wustl.edu 37 19 41111456 41111456 + Silent SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 41111456 41111456 G T SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known silent c.789 p.A263 0.986 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 tier1 - - 40 0 0.00 37 24 39.34 LYRM2 0 genome.wustl.edu 37 6 90347493 90347493 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 90347493 90347493 C G SNP LYRM2 ENST00000412237 human ensembl 74_37 -1 known missense c.154 p.E52Q 1.000 pfam_Complex1_LYR pfam_Complex1_LYR - no_errors LYRM2 HGNC ENSG00000083099 tier1 - - 80 0 0.00 74 13 14.94 MAGEB2 0 genome.wustl.edu 37 X 30236789 30236789 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 X 30236789 30236789 C G SNP MAGEB2 ENST00000378988 human ensembl 74_37 +1 known missense c.92 p.T31S 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC ENSG00000099399 tier1 - - 34 0 0.00 23 23 50.00 MAGEB3 0 genome.wustl.edu 37 X 30254354 30254354 + Nonsense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 X 30254354 30254354 C T SNP MAGEB3 ENST00000361644 human ensembl 74_37 +1 known nonsense c.313 p.Q105* 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 18 0 0.00 18 3 14.29 MAGEC1 0 genome.wustl.edu 37 X 140996200 140996200 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 X 140996200 140996200 C T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.3010 p.L1004 0.006 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 30 0 0.00 8 33 80.49 MAML2 0 genome.wustl.edu 37 11 95825386 95825386 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 95825386 95825386 C T SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known silent c.1809 p.Q603 0.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 tier1 - - 46 0 0.00 50 6 10.71 MAPK10 0 genome.wustl.edu 37 4 86985430 86985430 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 86985430 86985430 C T SNP MAPK10 ENST00000359221 human ensembl 74_37 -1 known missense c.1099 p.E367K 1.000 superfamily_Kinase-like_dom,prints_MAPK_JNK 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,prints_MAPK_JNK,pfscan_Prot_kinase_dom - no_errors MAPK10 HGNC ENSG00000109339 tier1 - - 52 0 0.00 53 7 11.67 MB21D2 0 genome.wustl.edu 37 3 192516720 192516720 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 3 192516720 192516720 G C SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known missense c.931 p.Q311E 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 tier1 - - 30 0 0.00 24 12 33.33 MBD5 0 genome.wustl.edu 37 2 149243356 149243356 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 149243356 149243356 C G SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.2891 p.T964S 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 tier1 - - 42 0 0.00 26 37 58.73 MBTD1 0 genome.wustl.edu 37 17 49296311 49296311 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 49296311 49296311 T C SNP MBTD1 ENST00000415868 human ensembl 74_37 -1 known missense c.383 p.N128S 1.000 NULL pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 tier1 - - 54 0 0.00 17 73 81.11 MDN1 0 genome.wustl.edu 37 6 90503483 90503483 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 90503483 90503483 G T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.853 p.L285M 0.998 superfamily_P-loop_NTPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 32 0 0.00 39 4 9.09 MED12L 0 genome.wustl.edu 37 3 150840754 150840754 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 3 150840754 150840754 C T SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.389 p.A130V 1.000 pfam_Mediator_Med12 pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 49 0 0.00 62 4 6.06 MEI1 0 genome.wustl.edu 37 22 42114165 42114165 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 22 42114165 42114165 C G SNP MEI1 ENST00000401548 human ensembl 74_37 +1 known missense c.620 p.S207C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 tier1 - - 36 0 0.00 16 24 60.00 MICALL1 0 genome.wustl.edu 37 22 38313800 38313800 + Nonsense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 22 38313800 38313800 C T SNP MICALL1 ENST00000215957 human ensembl 74_37 +1 known nonsense c.424 p.Q142* 0.924 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 31 0 0.00 20 9 31.03 MKKS 0 genome.wustl.edu 37 20 10388273 10388273 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 20 10388273 10388273 G C SNP MKKS ENST00000347364 human ensembl 74_37 -1 known missense c.1263 p.I421M 0.987 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors MKKS HGNC ENSG00000125863 tier1 - - 44 0 0.00 58 26 30.95 MMP13 0 genome.wustl.edu 37 11 102815028 102815028 + Silent SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 102815028 102815028 G A SNP MMP13 ENST00000260302 human ensembl 74_37 -1 novel silent c.1383 p.R461 0.003 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,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,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP13 HGNC ENSG00000137745 tier1 - - 40 0 0.00 26 13 33.33 MOB2 0 genome.wustl.edu 37 11 1501649 1501649 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 1501649 1501649 C T SNP MOB2 ENST00000329957 human ensembl 74_37 -1 novel silent c.339 p.T113 0.735 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB2 HGNC ENSG00000182208 10 0 0.00 12 2 14.29 MORC3 0 genome.wustl.edu 37 21 37705976 37705976 + Silent SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 21 37705976 37705976 T C SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known silent c.72 p.T24 1.000 superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 tier1 - - 89 0 0.00 23 45 66.18 MROH9 0 genome.wustl.edu 37 1 170952649 170952649 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 170952649 170952649 C G SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known missense c.703 p.Q235E 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 tier1 - - 53 0 0.00 63 17 21.25 MRPL45 0 genome.wustl.edu 37 17 36476532 36476532 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 36476532 36476532 G T SNP MRPL45 ENST00000312513 human ensembl 74_37 +1 known missense c.541 p.V181F 0.857 pfam_Tim44-like_dom,smart_Tim44-like_dom pfam_Tim44-like_dom,smart_Tim44-like_dom - no_errors MRPL45 HGNC ENSG00000174100 35 0 0.00 53 4 7.02 MSLNL 0 genome.wustl.edu 37 16 822739 822739 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 822739 822739 G T SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known missense c.2368 p.R790S 0.990 pfam_Mesothelin pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 70 0 0.00 40 3 6.98 MYPN 0 genome.wustl.edu 37 10 69948764 69948764 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 69948764 69948764 G A SNP MYPN ENST00000358913 human ensembl 74_37 +1 known missense c.2806 p.E936K 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 tier1 - - 38 0 0.00 40 4 9.09 NCR1 0 genome.wustl.edu 37 19 55417912 55417912 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 55417912 55417912 G T SNP NCR1 ENST00000291890 human ensembl 74_37 +1 known missense c.102 p.E34D 0.000 smart_Ig_sub smart_Ig_sub - no_errors NCR1 HGNC ENSG00000189430 32 0 0.00 51 4 7.27 NDST2 0 genome.wustl.edu 37 10 75565407 75565407 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 75565407 75565407 G T SNP NDST2 ENST00000309979 human ensembl 74_37 -1 known missense c.1684 p.P562T 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 tier1 - - 28 0 0.00 26 4 13.33 NDUFC2 0 genome.wustl.edu 37 11 77790692 77790692 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 77790692 77790692 G C SNP NDUFC2 ENST00000281031 human ensembl 74_37 -1 known missense c.99 p.I33M 0.000 pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su - no_errors NDUFC2 HGNC ENSG00000151366 tier1 - - 25 0 0.00 27 9 25.00 NELFE 0 genome.wustl.edu 37 6 31920162 31920162 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 31920162 31920162 G T SNP NELFE ENST00000375429 human ensembl 74_37 -1 known missense c.1059 p.S353R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NELFE HGNC ENSG00000204356 74 0 0.00 64 4 5.88 NKAIN3 0 genome.wustl.edu 37 8 63492202 63492202 + Silent SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 63492202 63492202 G T SNP NKAIN3 ENST00000328472 human ensembl 74_37 +1 known silent c.159 p.G53 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN3 HGNC ENSG00000185942 tier1 - - 45 0 0.00 91 5 5.21 NKRF 0 genome.wustl.edu 37 X 118722357 118722358 + RNA INS - - T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 X 118722357 118722358 - T INS NKRF ENST00000487600 human ensembl 74_37 -1 known rna NULL NULL 0.999:0.949 - - - no_errors NKRF HGNC ENSG00000186416 tier1 35 0 0.00 43 5 10.42 NLRP1 0 genome.wustl.edu 37 17 5486100 5486100 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 5486100 5486100 G A SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.338 p.S113F 0.013 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 rs201858694 - 76 0 0.00 32 24 42.86 NOL7 0 genome.wustl.edu 37 6 13615843 13615843 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 13615843 13615843 G C SNP NOL7 ENST00000451315 human ensembl 74_37 +1 known missense c.253 p.E85Q 1.000 NULL pfam_NUC129 - no_errors NOL7 HGNC ENSG00000225921 tier1 - - 38 0 0.00 49 13 20.97 NRP1 0 genome.wustl.edu 37 10 33502640 33502640 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 33502640 33502640 G T SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known missense c.1288 p.P430T 1.000 pirsf_Neuropilin,smart_Coagulation_fac_5/8-C_type_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 tier1 - - 66 0 0.00 92 5 5.15 NTRK2 0 genome.wustl.edu 37 9 87563393 87563393 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 9 87563393 87563393 G T SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.1781 p.S594I 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 tier1 - - 49 0 0.00 38 4 9.52 NUDT10 0 genome.wustl.edu 37 X 51076024 51076024 + Silent SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 X 51076024 51076024 G A SNP NUDT10 ENST00000356450 human ensembl 74_37 +1 known silent c.207 p.E69 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC ENSG00000122824 55 0 0.00 61 5 7.58 NXN 0 genome.wustl.edu 37 17 704261 704261 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 704261 704261 C G SNP NXN ENST00000336868 human ensembl 74_37 -1 known missense c.1236 p.E412D 1.000 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC ENSG00000167693 tier1 - - 100 0 0.00 50 35 41.18 NYAP1 0 genome.wustl.edu 37 7 100086030 100086030 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 100086030 100086030 G A SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known missense c.686 p.R229Q 0.999 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 27 0 0.00 19 6 24.00 OLIG1 0 genome.wustl.edu 37 21 34443982 34443982 + RNA SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 21 34443982 34443982 C T SNP OLIG1 ENST00000498799 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OLIG1 HGNC ENSG00000184221 tier1 - - 137 0 0.00 69 29 29.59 OR13C2 0 genome.wustl.edu 37 9 107367331 107367331 + Nonsense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 9 107367331 107367331 G C SNP OR13C2 ENST00000542196 human ensembl 74_37 -1 known nonsense c.578 p.S193* 0.202 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC ENSG00000257019 tier1 - - 33 0 0.00 34 14 29.17 OR2A5 0 genome.wustl.edu 37 7 143748358 143748358 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 143748358 143748358 G C SNP OR2A5 ENST00000408906 human ensembl 74_37 +1 known missense c.864 p.L288F 0.880 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A5 HGNC ENSG00000221836 tier1 - - 62 0 0.00 24 44 64.71 OR5K1 0 genome.wustl.edu 37 3 98188847 98188847 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 3 98188847 98188847 C G SNP OR5K1 ENST00000332650 human ensembl 74_37 +1 known missense c.427 p.Q143E 0.998 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 OR5K1 HGNC ENSG00000232382 tier1 - - 101 0 0.00 109 44 28.76 OSBPL6 0 genome.wustl.edu 37 2 179238625 179238625 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 179238625 179238625 G T SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.1416 p.E472D 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 25 0 0.00 54 3 5.26 OTUD4 0 genome.wustl.edu 37 4 146095823 146095823 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 146095823 146095823 T C SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.233 p.K78R 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 tier1 - - 67 0 0.00 48 16 25.00 PANK1 0 genome.wustl.edu 37 10 91353688 91353688 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 91353688 91353688 C T SNP PANK1 ENST00000307534 human ensembl 74_37 -1 known missense c.1369 p.E457K 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 tier1 - - 61 0 0.00 40 20 33.33 PASD1 0 genome.wustl.edu 37 X 150840072 150840072 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 X 150840072 150840072 G A SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.1258 p.V420I 0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 tier1 - - 30 0 0.00 30 9 23.08 PCDH12 0 genome.wustl.edu 37 5 141334669 141334669 + Silent SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 141334669 141334669 G C SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known silent c.2748 p.L916 0.999 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 tier1 - - 82 0 0.00 25 65 72.22 PCLO 0 genome.wustl.edu 37 7 82545336 82545336 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 82545336 82545336 G T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11966 p.A3989E 1.000 NULL 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 - - 48 0 0.00 76 4 5.00 PDCD1 0 genome.wustl.edu 37 2 242795101 242795101 + Silent SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 242795101 242795101 G A SNP PDCD1 ENST00000334409 human ensembl 74_37 -1 known silent c.108 p.T36 0.929 pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PDCD1 HGNC ENSG00000188389 tier1 - - 81 0 0.00 18 40 68.97 PDE3B 0 genome.wustl.edu 37 11 14889244 14889244 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 14889244 14889244 G A SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.3079 p.D1027N 0.999 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 tier1 - - 38 0 0.00 16 22 57.89 PDE4DIP 0 genome.wustl.edu 37 1 144994964 144994964 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 144994964 144994964 G A SNP PDE4DIP ENST00000528129 human ensembl 74_37 -1 known missense c.31 p.L11F 1.000 NULL pfam_Spindle_assoc - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 126 0 0.00 138 18 11.54 PDE6C 0 genome.wustl.edu 37 10 95372506 95372506 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 95372506 95372506 C T SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known silent c.24 p.A8 0.008 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 tier1 - - 64 0 0.00 63 4 5.97 PDIK1L 0 genome.wustl.edu 37 1 26448574 26448574 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 26448574 26448574 G T SNP PDIK1L ENST00000374269 human ensembl 74_37 +1 known missense c.532 p.D178Y 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_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 - no_errors PDIK1L HGNC ENSG00000175087 40 0 0.00 35 2 5.41 PDS5B 0 genome.wustl.edu 37 13 33316842 33316842 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 13 33316842 33316842 C A SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.2589 p.D863E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 tier1 - - 36 0 0.00 40 14 25.93 PFAS 0 genome.wustl.edu 37 17 8158990 8158990 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 8158990 8158990 G C SNP PFAS ENST00000314666 human ensembl 74_37 +1 known missense c.555 p.E185D 1.000 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 tier1 - - 98 0 0.00 52 60 53.10 PGBD3 0 genome.wustl.edu 37 10 50724205 50724205 + Missense_Mutation SNP T T A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 50724205 50724205 T A SNP PGBD3 ENST00000603152 human ensembl 74_37 -1 known missense c.2360 p.N787I 0.004 NULL NULL - no_errors PGBD3 HGNC ENSG00000243251 tier1 - - 20 0 0.00 6 3 33.33 PIH1D2 0 genome.wustl.edu 37 11 111941292 111941292 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 111941292 111941292 C G SNP PIH1D2 ENST00000280350 human ensembl 74_37 -1 known missense c.681 p.Q227H 0.000 pfam_PIH pfam_PIH - no_errors PIH1D2 HGNC ENSG00000150773 tier1 - - 47 0 0.00 16 33 67.35 PITPNM1 0 genome.wustl.edu 37 11 67260979 67260979 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 67260979 67260979 G T SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.3244 p.Q1082K 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 28 0 0.00 37 2 5.13 PKHD1 0 genome.wustl.edu 37 6 51824753 51824753 + Silent SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 51824753 51824753 T C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.5823 p.Q1941 1.000 pfam_G8_domain pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 42 0 0.00 50 16 24.24 PKP1 0 genome.wustl.edu 37 1 201292166 201292166 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 201292166 201292166 C T SNP PKP1 ENST00000263946 human ensembl 74_37 +1 known missense c.1592 p.P531L 0.265 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 tier1 - - 79 0 0.00 63 13 17.11 PMEPA1 0 genome.wustl.edu 37 20 56227196 56227196 + Silent SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 20 56227196 56227196 G T SNP PMEPA1 ENST00000341744 human ensembl 74_37 -1 known silent c.777 p.T259 0.989 NULL NULL - no_errors PMEPA1 HGNC ENSG00000124225 tier1 - - 41 0 0.00 63 4 5.97 PMS1 0 genome.wustl.edu 37 2 190660632 190660632 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 190660632 190660632 C T SNP PMS1 ENST00000441310 human ensembl 74_37 +1 known silent c.270 p.Y90 0.386 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 tier1 rs149723996 - 46 0 0.00 57 14 19.72 POTEE 0 genome.wustl.edu 37 2 131976247 131976247 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 131976247 131976247 T C SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.272 p.M91T 0.053 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 tier1 - - 79 0 0.00 50 27 35.06 POTEF 0 genome.wustl.edu 37 2 130877817 130877817 + Missense_Mutation SNP A A G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 130877817 130877817 A G SNP POTEF ENST00000357462 human ensembl 74_37 -1 known missense c.272 p.M91T 0.066 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 194 0 0.00 160 11 6.43 POTEH-AS1 0 genome.wustl.edu 37 22 16278260 16278260 + RNA SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 22 16278260 16278260 C A SNP POTEH-AS1 ENST00000422014 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POTEH-AS1 HGNC ENSG00000236666 tier1 rs200660281 - 9 0 0.00 3 6 66.67 POTEM 0 genome.wustl.edu 37 14 20020113 20020113 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 14 20020113 20020113 C T SNP POTEM ENST00000547848 human ensembl 74_37 -1 known silent c.108 p.R36 0.101 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 POTEM HGNC ENSG00000187537 tier1 rs199622050 - 45 0 0.00 66 10 13.16 POU6F1 0 genome.wustl.edu 37 12 51584241 51584241 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 12 51584241 51584241 G C SNP POU6F1 ENST00000333640 human ensembl 74_37 -1 known missense c.695 p.S232C 1.000 pfscan_Homeobox_dom pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F1 HGNC ENSG00000184271 tier1 - - 51 0 0.00 49 7 12.50 PPP1R18 0 genome.wustl.edu 37 6 30652643 30652643 + Frame_Shift_Del DEL C C - TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 30652643 30652643 C - DEL PPP1R18 ENST00000274853 human ensembl 74_37 -1 known frame_shift_del c.1153 p.A385fs 0.002 NULL NULL - no_errors PPP1R18 HGNC ENSG00000146112 tier1 33 0 0.00 37 2 5.13 PPP2R3B 0 genome.wustl.edu 37 X 307471 307471 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 X 307471 307471 C T SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known missense c.757 p.E253K 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 tier1 - - 112 0 0.00 28 26 48.15 PRR19 0 genome.wustl.edu 37 19 42814490 42814490 + Silent SNP A A T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 42814490 42814490 A T SNP PRR19 ENST00000341747 human ensembl 74_37 +1 known silent c.669 p.P223 0.002 NULL NULL - no_errors PRR19 HGNC ENSG00000188368 tier1 - - 36 0 0.00 26 12 31.58 PRSS1 0 genome.wustl.edu 37 7 142460779 142460779 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 142460779 142460779 G T SNP PRSS1 ENST00000311737 human ensembl 74_37 +1 known missense c.652 p.D218Y 0.978 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS1 HGNC ENSG00000204983 73 0 0.00 65 6 8.45 PSG4 0 genome.wustl.edu 37 19 43699413 43699413 + Missense_Mutation SNP T T A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 43699413 43699413 T A SNP PSG4 ENST00000405312 human ensembl 74_37 -1 known missense c.722 p.K241M 0.002 pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG4 HGNC ENSG00000243137 tier1 - - 126 0 0.00 166 45 21.33 PTHLH 0 genome.wustl.edu 37 12 28114897 28114898 + Frame_Shift_Ins INS - - T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 12 28114897 28114898 - T INS PTHLH ENST00000354417 human ensembl 74_37 -1 known frame_shift_ins c.558_557 p.E187fs 0.126:0.135 NULL pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 tier1 17 0 0.00 14 4 22.22 PTPRC 0 genome.wustl.edu 37 1 198701611 198701611 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 198701611 198701611 G T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.2068 p.D690Y 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 41 0 0.00 50 3 5.66 PTPRH 0 genome.wustl.edu 37 19 55698885 55698885 + Silent SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 55698885 55698885 C A SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known silent c.2562 p.L854 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,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 PTPRH HGNC ENSG00000080031 tier1 - - 53 0 0.00 39 30 43.48 RAB11FIP3 0 genome.wustl.edu 37 16 570264 570264 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 570264 570264 G A SNP RAB11FIP3 ENST00000457159 human ensembl 74_37 +1 known missense c.2138 p.R713H 0.992 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP3 HGNC ENSG00000090565 11 0 0.00 12 6 33.33 RAB39A 0 genome.wustl.edu 37 11 107799511 107799511 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 107799511 107799511 G A SNP RAB39A ENST00000320578 human ensembl 74_37 +1 known missense c.217 p.E73K 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,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 RAB39A HGNC ENSG00000179331 tier1 - - 131 0 0.00 38 66 63.46 RAB3D 0 genome.wustl.edu 37 19 11446226 11446226 + Nonsense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 11446226 11446226 G T SNP RAB3D ENST00000222120 human ensembl 74_37 -1 known nonsense c.369 p.Y123* 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,tigrfam_Small_GTP-bd_dom 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 - no_errors RAB3D HGNC ENSG00000105514 tier1 - - 77 0 0.00 73 4 5.19 RABEP2 0 genome.wustl.edu 37 16 28920007 28920007 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 28920007 28920007 C T SNP RABEP2 ENST00000358201 human ensembl 74_37 -1 known missense c.1168 p.E390K 0.792 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP2 HGNC ENSG00000177548 tier1 - - 84 0 0.00 44 21 32.31 RAD17 0 genome.wustl.edu 37 5 68692375 68692376 + Splice_Site INS - - AA TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 68692375 68692376 - AA INS RAD17 ENST00000380774 human ensembl 74_37 +1 known splice_site_ins c.1605+2_1605+1 e13+2 1.000:0.992 - - - no_errors RAD17 HGNC ENSG00000152942 tier1 18 0 0.00 17 4 19.05 RANBP17 0 genome.wustl.edu 37 5 170319525 170319525 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 170319525 170319525 G A SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.391 p.E131K 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 tier1 - - 40 0 0.00 46 20 30.30 RASA1 0 genome.wustl.edu 37 5 86658398 86658398 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 86658398 86658398 G T SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.1363 p.D455Y 1.000 NULL pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 tier1 - - 54 0 0.00 38 9 19.15 RBBP7 0 genome.wustl.edu 37 X 16887221 16887221 + Nonsense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 X 16887221 16887221 G A SNP RBBP7 ENST00000380087 human ensembl 74_37 -1 known nonsense c.139 p.Q47* 1.000 pfam_Histone-bd_RBBP4_N pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP7 HGNC ENSG00000102054 tier1 - - 32 0 0.00 8 28 77.78 RGS3 0 genome.wustl.edu 37 9 116298982 116298982 + RNA SNP A A G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 9 116298982 116298982 A G SNP RGS3 ENST00000492676 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors RGS3 HGNC ENSG00000138835 tier1 - - 35 0 0.00 19 7 26.92 RHPN1 0 genome.wustl.edu 37 8 144462882 144462882 + Nonsense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 144462882 144462882 C G SNP RHPN1 ENST00000289013 human ensembl 74_37 +1 known nonsense c.1340 p.S447* 0.999 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 tier1 - - 64 0 0.00 33 9 21.43 RICTOR 0 genome.wustl.edu 37 5 38950435 38950435 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 38950435 38950435 G A SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.3515 p.T1172I 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 tier1 - - 37 0 0.00 96 8 7.69 ROCK2 0 genome.wustl.edu 37 2 11332613 11332613 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 11332613 11332613 T C SNP ROCK2 ENST00000315872 human ensembl 74_37 -1 known missense c.3913 p.M1305V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 tier1 - - 53 0 0.00 58 14 19.44 RP1L1 0 genome.wustl.edu 37 8 10464935 10464935 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 10464935 10464935 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.6673 p.P2225S 0.001 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 72 0 0.00 39 12 23.53 RP1L1 0 genome.wustl.edu 37 8 10464952 10464952 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 10464952 10464952 T C SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.6656 p.E2219G 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 80 0 0.00 43 11 20.37 RP1L1 0 genome.wustl.edu 37 8 10464968 10464968 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 10464968 10464968 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.6640 p.A2214T 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 89 0 0.00 43 11 20.37 RP1L1 0 genome.wustl.edu 37 8 10464975 10464975 + Silent SNP A A G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 10464975 10464975 A G SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.6633 p.G2211 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 84 0 0.00 46 11 18.97 RPS24 0 genome.wustl.edu 37 10 79793751 79793751 + RNA SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 79793751 79793751 G T SNP RPS24 ENST00000475468 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RPS24 HGNC ENSG00000138326 tier1 - - 37 0 0.00 2 14 87.50 RPS6KC1 0 genome.wustl.edu 37 1 213414048 213414048 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 213414048 213414048 G A SNP RPS6KC1 ENST00000366960 human ensembl 74_37 +1 known missense c.1229 p.G410D 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors RPS6KC1 HGNC ENSG00000136643 tier1 - - 30 0 0.00 38 4 9.52 SAFB 0 genome.wustl.edu 37 19 5664432 5664432 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 5664432 5664432 G T SNP SAFB ENST00000588852 human ensembl 74_37 +1 known missense c.2316 p.M772I 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 tier1 - - 83 0 0.00 40 6 13.04 SARS 0 genome.wustl.edu 37 1 109779357 109779357 + RNA SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 109779357 109779357 C G SNP SARS ENST00000468588 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SARS HGNC ENSG00000031698 tier1 - - 81 0 0.00 80 14 14.89 SCN7A 0 genome.wustl.edu 37 2 167262557 167262557 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 167262557 167262557 C A SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.4582 p.D1528Y 0.997 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 - - 42 0 0.00 27 24 47.06 SDCCAG8 0 genome.wustl.edu 37 1 243652362 243652362 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 243652362 243652362 G T SNP SDCCAG8 ENST00000366541 human ensembl 74_37 +1 known missense c.2032 p.V678L 1.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 69 0 0.00 71 4 5.33 SF3B3 0 genome.wustl.edu 37 16 70604024 70604024 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 70604024 70604024 G A SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.3380 p.G1127D 1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 31 0 0.00 53 3 5.26 SGMS1 0 genome.wustl.edu 37 10 52103376 52103376 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 52103376 52103376 G T SNP SGMS1 ENST00000361781 human ensembl 74_37 -1 known missense c.499 p.P167T 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_P_Acid_Pase_2/haloperoxidase,pfscan_SAM - no_errors SGMS1 HGNC ENSG00000198964 42 0 0.00 22 2 8.33 SH3TC1 0 genome.wustl.edu 37 4 8226903 8226903 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 8226903 8226903 C G SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.1245 p.D415E 0.031 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 tier1 - - 48 0 0.00 30 14 31.82 SLC13A5 0 genome.wustl.edu 37 17 6606342 6606342 + Silent SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 6606342 6606342 G A SNP SLC13A5 ENST00000433363 human ensembl 74_37 -1 known silent c.663 p.T221 0.001 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 tier1 - - 49 0 0.00 56 4 6.67 SLC2A7 0 genome.wustl.edu 37 1 9064926 9064926 + Nonsense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 9064926 9064926 G T SNP SLC2A7 ENST00000400906 human ensembl 74_37 -1 known nonsense c.1205 p.S402* 0.344 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A7 HGNC ENSG00000197241 69 0 0.00 63 4 5.97 SLC38A10 0 genome.wustl.edu 37 17 79226049 79226049 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 79226049 79226049 G T SNP SLC38A10 ENST00000374759 human ensembl 74_37 -1 known missense c.1891 p.P631T 0.001 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 tier1 - - 77 0 0.00 80 5 5.88 SLC38A8 0 genome.wustl.edu 37 16 84075670 84075670 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 84075670 84075670 G T SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known missense c.93 p.F31L 1.000 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 tier1 - - 54 0 0.00 22 84 79.25 SLC44A3 0 genome.wustl.edu 37 1 95293099 95293099 + Silent SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 95293099 95293099 C G SNP SLC44A3 ENST00000271227 human ensembl 74_37 +1 known silent c.315 p.V105 0.107 NULL pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 tier1 - - 37 0 0.00 32 8 20.00 SLC7A11 0 genome.wustl.edu 37 4 139100537 139100537 + Silent SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 139100537 139100537 G A SNP SLC7A11 ENST00000280612 human ensembl 74_37 -1 known silent c.1278 p.F426 1.000 pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A11 HGNC ENSG00000151012 17 0 0.00 6 4 40.00 SLITRK6 0 genome.wustl.edu 37 13 86369470 86369470 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 13 86369470 86369470 G C SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.1174 p.L392V 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 SLITRK6 HGNC ENSG00000184564 tier1 - - 64 0 0.00 58 21 26.58 SMC5 0 genome.wustl.edu 37 9 72929739 72929739 + Missense_Mutation SNP T T G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 9 72929739 72929739 T G SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known missense c.1660 p.L554V 0.996 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 tier1 - - 90 0 0.00 63 31 32.98 SMCR8 0 genome.wustl.edu 37 17 18219700 18219700 + Silent SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 18219700 18219700 G A SNP SMCR8 ENST00000406438 human ensembl 74_37 +1 known silent c.597 p.L199 0.983 pfam_Folliculin pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 29 0 0.00 27 3 10.00 SMCR8 0 genome.wustl.edu 37 17 18219701 18219701 + Nonsense_Mutation SNP A A T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 18219701 18219701 A T SNP SMCR8 ENST00000406438 human ensembl 74_37 +1 known nonsense c.598 p.K200* 0.998 pfam_Folliculin pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 29 0 0.00 28 3 9.68 SNORD3B-1 0 genome.wustl.edu 37 17 18965435 18965435 + RNA SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 18965435 18965435 G A SNP SNORD3B-1 ENST00000363359 human ensembl 74_37 +1 known rna NULL NULL 0.092 - - - no_errors SNORD3B-1 HGNC ENSG00000265185 tier1 - - 30 0 0.00 17 9 34.62 SOX1 0 genome.wustl.edu 37 13 112722275 112722275 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 13 112722275 112722275 C G SNP SOX1 ENST00000330949 human ensembl 74_37 +1 known missense c.303 p.I101M 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX1 HGNC ENSG00000182968 tier1 - - 93 0 0.00 12 36 75.00 SPATA31D5P 0 genome.wustl.edu 37 9 84531499 84531499 + RNA SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 9 84531499 84531499 G C SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 tier1 - - 100 0 0.00 68 10 12.82 SPEF2 0 genome.wustl.edu 37 5 35628627 35628627 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 35628627 35628627 G A SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.124 p.E42K 1.000 pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain 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 46 75 61.98 SPIDR 0 genome.wustl.edu 37 8 48566668 48566668 + RNA SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 48566668 48566668 G T SNP SPIDR ENST00000519141 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPIDR HGNC ENSG00000164808 tier1 - - 27 0 0.00 31 4 11.43 SRGAP3 0 genome.wustl.edu 37 3 9097938 9097938 + Silent SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 3 9097938 9097938 G T SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known silent c.1104 p.T368 0.767 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 41 0 0.00 34 4 10.53 STARD13 0 genome.wustl.edu 37 13 33700299 33700299 + Silent SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 13 33700299 33700299 G T SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known silent c.2001 p.V667 1.000 pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 tier1 - - 48 0 0.00 51 4 7.27 STIM2 0 genome.wustl.edu 37 4 27004677 27004677 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 27004677 27004677 C T SNP STIM2 ENST00000382009 human ensembl 74_37 +1 known missense c.1193 p.A398V 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC ENSG00000109689 tier1 - - 32 0 0.00 31 4 11.43 STMND1 0 genome.wustl.edu 37 6 17102499 17102499 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 17102499 17102499 G A SNP STMND1 ENST00000536551 human ensembl 74_37 +1 known missense c.11 p.G4E 0.982 NULL pfam_Stathmin_fam,superfamily_Stathmin_fam - no_errors STMND1 HGNC ENSG00000230873 tier1 - - 61 0 0.00 81 8 8.99 STPG1 0 genome.wustl.edu 37 1 24710455 24710455 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 24710455 24710455 G T SNP STPG1 ENST00000337248 human ensembl 74_37 -1 known missense c.228 p.H76Q 1.000 NULL NULL - no_errors STPG1 HGNC ENSG00000001460 tier1 - - 58 0 0.00 45 4 8.16 SUPT6H 0 genome.wustl.edu 37 17 27002024 27002024 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 27002024 27002024 G A SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.382 p.E128K 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 tier1 - - 48 0 0.00 51 14 21.21 TAF4 0 genome.wustl.edu 37 20 60639546 60639546 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 20 60639546 60639546 G C SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known missense c.1321 p.Q441E 1.000 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 tier1 - - 22 0 0.00 25 9 26.47 TAPSAR1 0 genome.wustl.edu 37 6 32812357 32812357 + RNA SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 32812357 32812357 G T SNP TAPSAR1 ENST00000412095 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TAPSAR1 HGNC ENSG00000204261 tier1 - - 24 0 0.00 11 11 50.00 TARS 0 genome.wustl.edu 37 5 33467748 33467748 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 33467748 33467748 G A SNP TARS ENST00000265112 human ensembl 74_37 +1 known missense c.2107 p.E703K 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,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 - - 54 0 0.00 89 13 12.75 TCEA2 0 genome.wustl.edu 37 20 62697888 62697888 + Silent SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 20 62697888 62697888 C G SNP TCEA2 ENST00000343484 human ensembl 74_37 +1 known silent c.132 p.L44 0.056 pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA2 HGNC ENSG00000171703 tier1 - - 36 0 0.00 19 24 55.81 TDG 0 genome.wustl.edu 37 12 104373677 104373677 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 12 104373677 104373677 C A SNP TDG ENST00000392872 human ensembl 74_37 +1 known missense c.235 p.P79T 0.901 tigrfam_Thymine-DNA_glycosylase pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase - no_errors TDG HGNC ENSG00000139372 tier1 rs147763309 - 29 0 0.00 39 5 11.36 TECTA 0 genome.wustl.edu 37 11 120973431 120973431 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 120973431 120973431 G T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.57 p.Q19H 0.999 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 48 0 0.00 28 4 12.50 TG 0 genome.wustl.edu 37 8 133899614 133899614 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 133899614 133899614 G C SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.1997 p.R666T 0.998 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 27 0 0.00 32 14 30.43 TG 0 genome.wustl.edu 37 8 134030045 134030045 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 134030045 134030045 G C SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.6585 p.E2195D 0.000 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 35 0 0.00 32 19 37.25 TIMELESS 0 genome.wustl.edu 37 12 56814440 56814440 + Silent SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 12 56814440 56814440 G A SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known silent c.3141 p.L1047 1.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 tier1 - - 66 0 0.00 76 18 19.15 TIMM10B 0 genome.wustl.edu 37 11 6502989 6502989 + Silent SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 6502989 6502989 G T SNP TIMM10B ENST00000254616 human ensembl 74_37 +1 known silent c.42 p.L14 0.999 pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf - no_errors TIMM10B HGNC ENSG00000132286 tier1 - - 42 0 0.00 35 4 10.26 TLR2 0 genome.wustl.edu 37 4 154626358 154626358 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 154626358 154626358 G T SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known missense c.2299 p.D767Y 0.536 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 35 0 0.00 38 2 5.00 TMC5 0 genome.wustl.edu 37 16 19483510 19483510 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 19483510 19483510 G T SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known missense c.1883 p.G628V 0.448 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 tier1 - - 39 0 0.00 48 4 7.69 TMCO6 0 genome.wustl.edu 37 5 140021959 140021959 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 140021959 140021959 G T SNP TMCO6 ENST00000252100 human ensembl 74_37 +1 known missense c.558 p.Q186H 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 tier1 - - 24 0 0.00 4 13 76.47 TMEM132D 0 genome.wustl.edu 37 12 129569203 129569203 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 12 129569203 129569203 C G SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.1488 p.M496I 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 65 0 0.00 43 3 6.52 TMEM200C 0 genome.wustl.edu 37 18 5890406 5890406 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 18 5890406 5890406 C A SNP TMEM200C ENST00000383490 human ensembl 74_37 -1 known missense c.1657 p.A553S 0.718 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 tier1 - - 41 0 0.00 44 8 15.38 TMEM258 0 genome.wustl.edu 37 11 61557382 61557382 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 61557382 61557382 G T SNP TMEM258 ENST00000257262 human ensembl 74_37 -1 known missense c.125 p.T42N 1.000 pfam_UPF0197 pfam_UPF0197 - no_errors TMEM258 HGNC ENSG00000134825 56 0 0.00 15 2 11.76 TMPO 0 genome.wustl.edu 37 12 98938017 98938017 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 12 98938017 98938017 C G SNP TMPO ENST00000556029 human ensembl 74_37 +1 known missense c.673 p.Q225E 1.000 NULL pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 41 0 0.00 16 7 30.43 TNFSF13B 0 genome.wustl.edu 37 13 108922373 108922373 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 13 108922373 108922373 G C SNP TNFSF13B ENST00000375887 human ensembl 74_37 +1 known missense c.130 p.D44H 0.009 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,pfscan_TNF_dom - no_errors TNFSF13B HGNC ENSG00000102524 tier1 - - 17 0 0.00 20 6 23.08 TNKS 0 genome.wustl.edu 37 8 9472945 9472946 + RNA INS - - T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 8 9472945 9472946 - T INS TNKS ENST00000518027 human ensembl 74_37 +1 known rna NULL NULL 0.998:0.938 - - - no_errors TNKS HGNC ENSG00000173273 tier1 10 0 0.00 7 9 56.25 TNPO3 0 genome.wustl.edu 37 7 128615974 128615974 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 128615974 128615974 G A SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known missense c.2179 p.H727Y 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 tier1 - - 29 0 0.00 10 26 70.27 TP53 0 genome.wustl.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 7578271 7578271 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.578 p.H193R 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 66 0 0.00 27 62 69.66 TRAIP 0 genome.wustl.edu 37 3 49866540 49866540 + Missense_Mutation SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 3 49866540 49866540 G A SNP TRAIP ENST00000331456 human ensembl 74_37 -1 known missense c.1406 p.S469L 0.896 NULL pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC ENSG00000183763 tier1 - - 40 0 0.00 8 10 55.56 TRANK1 0 genome.wustl.edu 37 3 36873775 36873775 + Silent SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 3 36873775 36873775 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known silent c.7167 p.F2389 1.000 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 76 0 0.00 46 15 24.59 TRIM23 0 genome.wustl.edu 37 5 64890374 64890374 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 5 64890374 64890374 G T SNP TRIM23 ENST00000231524 human ensembl 74_37 -1 known missense c.1519 p.L507M 0.999 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,superfamily_P-loop_NTPase,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 49 0 0.00 55 3 5.17 TRIM28 0 genome.wustl.edu 37 19 59056833 59056833 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 59056833 59056833 G T SNP TRIM28 ENST00000253024 human ensembl 74_37 +1 known missense c.382 p.D128Y 1.000 NULL pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 tier1 - - 60 0 0.00 57 4 6.56 TRIM34 0 genome.wustl.edu 37 11 5664977 5664977 + RNA DEL C C - TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 11 5664977 5664977 C - DEL TRIM34 ENST00000495668 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIM34 HGNC ENSG00000258659 tier1 44 0 0.00 24 5 17.24 TSGA10 0 genome.wustl.edu 37 2 99634675 99634675 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 99634675 99634675 C A SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known missense c.2060 p.R687L 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 tier1 rs148460657 - 39 0 0.00 54 35 39.33 TTN 0 genome.wustl.edu 37 2 179592389 179592389 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 179592389 179592389 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.16184 p.S5395C 0.999 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 - - 55 0 0.00 32 13 28.89 TTN 0 genome.wustl.edu 37 2 179398175 179398175 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 179398175 179398175 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.95463 p.I31821M 0.982 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 41 0 0.00 40 3 6.98 TTN 0 genome.wustl.edu 37 2 179402298 179402298 + Silent SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 2 179402298 179402298 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.91932 p.S30644 0.025 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 52 0 0.00 68 4 5.56 TUBA1A 0 genome.wustl.edu 37 12 49578864 49578864 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 12 49578864 49578864 C G SNP TUBA1A ENST00000301071 human ensembl 74_37 -1 known missense c.1285 p.E429Q 1.000 superfamily_Tub_FtsZ_C,prints_Alpha_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 TUBA1A HGNC ENSG00000167552 tier1 - - 148 0 0.00 155 26 14.21 TUBA1A 0 genome.wustl.edu 37 12 49578975 49578975 + Missense_Mutation SNP C C G TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 12 49578975 49578975 C G SNP TUBA1A ENST00000301071 human ensembl 74_37 -1 known missense c.1174 p.D392H 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_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 TUBA1A HGNC ENSG00000167552 tier1 - - 121 0 0.00 104 27 20.61 UOX 0 genome.wustl.edu 37 1 84833375 84833375 + RNA SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 1 84833375 84833375 C T SNP UOX ENST00000483236 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors UOX HGNC ENSG00000240520 tier1 - - 35 0 0.00 35 19 35.19 UQCRFS1 0 genome.wustl.edu 37 19 29699033 29699033 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 29699033 29699033 T C SNP UQCRFS1 ENST00000304863 human ensembl 74_37 -1 known missense c.247 p.I83V 0.746 pfam_Ubiquinol_cyt_Rdtase_TM pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC ENSG00000169021 49 0 0.00 56 5 8.20 USP43 0 genome.wustl.edu 37 17 9549132 9549132 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 9549132 9549132 C T SNP USP43 ENST00000285199 human ensembl 74_37 +1 known silent c.183 p.F61 0.038 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP43 HGNC ENSG00000154914 tier1 - - 17 0 0.00 12 8 40.00 USP54 0 genome.wustl.edu 37 10 75286503 75286503 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 75286503 75286503 G C SNP USP54 ENST00000339859 human ensembl 74_37 -1 known missense c.2096 p.P699R 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 tier1 - - 40 0 0.00 36 12 25.00 USP9Y 0 genome.wustl.edu 37 Y 14898609 14898609 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 Y 14898609 14898609 G T SNP USP9Y ENST00000338981 human ensembl 74_37 +1 known missense c.3437 p.R1146M 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67 - no_errors USP9Y HGNC ENSG00000114374 tier1 - - 38 0 0.00 14 3 17.65 UTRN 0 genome.wustl.edu 37 6 144814581 144814581 + Silent SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 144814581 144814581 C T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known silent c.4582 p.L1528 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 tier1 - - 19 0 0.00 22 5 18.52 UVSSA 0 genome.wustl.edu 37 4 1341932 1341932 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 1341932 1341932 C A SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.53 p.P18H 1.000 superfamily_ENTH_VHS pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 tier1 - - 43 0 0.00 18 9 33.33 VNN3 0 genome.wustl.edu 37 6 133044189 133044189 + Nonsense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 6 133044189 133044189 G T SNP VNN3 ENST00000207771 human ensembl 74_37 -1 known nonsense c.1379 p.S460* 0.935 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN3 HGNC ENSG00000093134 tier1 - - 58 0 0.00 74 4 5.13 WBP2 0 genome.wustl.edu 37 17 73843668 73843669 + Frame_Shift_Ins INS - - A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 73843668 73843669 - A INS WBP2 ENST00000254806 human ensembl 74_37 -1 known frame_shift_ins c.555_554 p.M185fs 1.000:1.000 pfam_WW-domain-binding pfam_WW-domain-binding,pfam_GRAM - no_errors WBP2 HGNC ENSG00000132471 tier1 106 0 0.00 70 48 40.68 WDR96 0 genome.wustl.edu 37 10 105900686 105900686 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 105900686 105900686 G C SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known missense c.4345 p.L1449V 0.998 NULL superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 tier1 - - 38 0 0.00 42 13 23.64 YJEFN3 0 genome.wustl.edu 37 19 19627082 19627082 + Missense_Mutation SNP C C T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 19627082 19627082 C T SNP YJEFN3 ENST00000608404 human ensembl 74_37 +1 known missense c.35 p.P12L 1.000 pfam_GRIM-19 pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom - no_errors YJEFN3 HGNC ENSG00000250067 tier1 - - 66 0 0.00 25 18 41.86 ZCWPW1 0 genome.wustl.edu 37 7 100004374 100004374 + Missense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 100004374 100004374 C A SNP ZCWPW1 ENST00000398027 human ensembl 74_37 -1 known missense c.1113 p.W371C 1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_Znf_CW,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 tier1 - - 39 0 0.00 7 18 72.00 ZEB1 0 genome.wustl.edu 37 10 31809541 31809541 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 10 31809541 31809541 G T SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known missense c.1281 p.R427S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 tier1 - - 23 0 0.00 56 20 26.32 ZFHX3 0 genome.wustl.edu 37 16 72828297 72828297 + Nonsense_Mutation SNP C C A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 16 72828297 72828297 C A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known nonsense c.8284 p.G2762* 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 - - 35 0 0.00 10 40 80.00 ZFP42 0 genome.wustl.edu 37 4 188924576 188924576 + Silent SNP G G A TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 4 188924576 188924576 G A SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known silent c.615 p.L205 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 17 0 0.00 14 3 17.65 ZNF112 0 genome.wustl.edu 37 19 44833162 44833162 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 44833162 44833162 T C SNP ZNF112 ENST00000536500 human ensembl 74_37 -1 known missense c.1217 p.Y406C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF112 HGNC ENSG00000062370 tier1 - - 18 0 0.00 24 19 44.19 ZNF208 0 genome.wustl.edu 37 19 22155346 22155346 + Silent SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 19 22155346 22155346 T C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel silent c.2490 p.E830 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 ZNF208 HGNC ENSG00000160321 79 0 0.00 56 6 9.68 ZNF212 0 genome.wustl.edu 37 7 148936991 148936991 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 148936991 148936991 T C SNP ZNF212 ENST00000462724 human ensembl 74_37 +1 known missense c.122 p.L41S 0.000 NULL NULL - no_errors ZNF212 HGNC ENSG00000170260 tier1 - - 28 0 0.00 14 10 41.67 ZNF287 0 genome.wustl.edu 37 17 16469934 16469934 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 16469934 16469934 G T SNP ZNF287 ENST00000395824 human ensembl 74_37 -1 known missense c.406 p.P136T 0.996 smart_Tscrpt_reg_SCAN 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 ZNF287 HGNC ENSG00000141040 tier1 - - 33 0 0.00 59 4 6.35 ZNF621 0 genome.wustl.edu 37 3 40573853 40573853 + Missense_Mutation SNP G G C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 3 40573853 40573853 G C SNP ZNF621 ENST00000339296 human ensembl 74_37 +1 known missense c.592 p.E198Q 0.982 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 ZNF621 HGNC ENSG00000172888 35 0 0.00 29 2 6.45 ZNF750 0 genome.wustl.edu 37 17 80790258 80790258 + Missense_Mutation SNP A A C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 17 80790258 80790258 A C SNP ZNF750 ENST00000269394 human ensembl 74_37 -1 known missense c.73 p.Y25D 1.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 tier1 - - 59 0 0.00 25 70 73.68 ZNF804B 0 genome.wustl.edu 37 7 88962859 88962859 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a84c38da-9bf2-4a1b-be80-a58f22b44cff 7a2929d0-a1b6-4fde-86af-c153b1b66835 7 88962859 88962859 G T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.563 p.R188L 0.640 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 30 0 0.00 30 2 6.25