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 ACSS3 0 genome.wustl.edu 37 12 81536947 81536947 + Missense_Mutation SNP A A T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 12 81536947 81536947 A T SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.842 p.Q281L 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 62 0 0.00 34 21 38.18 ADAM17 0 genome.wustl.edu 37 2 9630607 9630607 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 9630607 9630607 C T SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known missense c.2174 p.R725H 1.000 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 tier1 rs147275585 - 53 0 0.00 38 11 22.45 ADAM22 0 genome.wustl.edu 37 7 87778344 87778344 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 87778344 87778344 G A SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.1538 p.R513H 0.999 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 tier1 - - 28 0 0.00 16 17 51.52 ADCY8 0 genome.wustl.edu 37 8 132051802 132051802 + Missense_Mutation SNP C C G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 8 132051802 132051802 C G SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.778 p.A260P 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 38 0 0.00 60 7 10.45 AHRR 0 genome.wustl.edu 37 5 344029 344029 + Silent SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 5 344029 344029 G T SNP AHRR ENST00000316418 human ensembl 74_37 +1 known silent c.24 p.P8 0.878 NULL pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors AHRR HGNC ENSG00000063438 43 0 0.00 52 4 7.14 AQR 0 genome.wustl.edu 37 15 35198735 35198735 + Silent SNP G G C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 15 35198735 35198735 G C SNP AQR ENST00000543879 human ensembl 74_37 -1 known silent c.1842 p.T614 0.000 NULL NULL - no_errors AQR HGNC ENSG00000021776 tier1 - - 67 0 0.00 17 37 68.52 ARHGEF11 0 genome.wustl.edu 37 1 156914188 156914188 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 156914188 156914188 C T SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.3029 p.G1010E 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 tier1 - - 46 0 0.00 25 15 37.50 ATP8B5P 0 genome.wustl.edu 37 9 35469202 35469202 + RNA SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 9 35469202 35469202 C T SNP ATP8B5P ENST00000329395 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors ATP8B5P HGNC ENSG00000179766 tier1 - - 93 0 0.00 39 72 64.86 BCHE 0 genome.wustl.edu 37 3 165548074 165548074 + Silent SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 3 165548074 165548074 G A SNP BCHE ENST00000264381 human ensembl 74_37 -1 known silent c.748 p.L250 0.896 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 tier1 - - 48 0 0.00 100 20 16.67 BTG1 0 genome.wustl.edu 37 12 92539233 92539234 + Frame_Shift_Ins INS - - A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 12 92539233 92539234 - A INS BTG1 ENST00000256015 human ensembl 74_37 -1 known frame_shift_ins c.79_78 p.R26fs 1.000:1.000 pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG1 HGNC ENSG00000133639 tier1 44 0 0.00 40 26 39.39 C2orf71 0 genome.wustl.edu 37 2 29294078 29294078 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 29294078 29294078 C T SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.3050 p.R1017K 0.127 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 tier1 - - 26 0 0.00 34 10 22.73 C2orf72 0 genome.wustl.edu 37 2 231911623 231911623 + Missense_Mutation SNP C C A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 231911623 231911623 C A SNP C2orf72 ENST00000373640 human ensembl 74_37 +1 putative missense c.775 p.L259M 1.000 NULL NULL - no_errors C2orf72 HGNC ENSG00000204128 tier1 - - 80 0 0.00 74 13 14.94 CA10 0 genome.wustl.edu 37 17 50235244 50235244 + RNA SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 17 50235244 50235244 C T SNP CA10 ENST00000573294 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors CA10 HGNC ENSG00000154975 tier1 - - 30 0 0.00 10 10 50.00 CACNG2 0 genome.wustl.edu 37 22 36960889 36960889 + Missense_Mutation SNP C C A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 22 36960889 36960889 C A SNP CACNG2 ENST00000300105 human ensembl 74_37 -1 known missense c.481 p.A161S 0.998 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g2su,prints_Claudin - no_errors CACNG2 HGNC ENSG00000166862 tier1 - - 31 0 0.00 53 4 7.02 CALN1 0 genome.wustl.edu 37 7 71868318 71868318 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 71868318 71868318 C T SNP CALN1 ENST00000395275 human ensembl 74_37 -1 known missense c.37 p.E13K 0.991 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALN1 HGNC ENSG00000183166 tier1 - - 101 0 0.00 116 34 22.67 CCDC115 0 genome.wustl.edu 37 2 131099484 131099484 + Missense_Mutation SNP T T A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 131099484 131099484 T A SNP CCDC115 ENST00000442217 human ensembl 74_37 -1 known missense c.145 p.M49L 1.000 NULL NULL - no_errors CCDC115 HGNC ENSG00000136710 tier1 - - 22 0 0.00 28 19 40.43 CCDC136 0 genome.wustl.edu 37 7 128451963 128451963 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 128451963 128451963 G A SNP CCDC136 ENST00000297788 human ensembl 74_37 +1 known missense c.2138 p.R713Q 0.917 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 tier1 - - 33 0 0.00 19 23 54.76 CCDC40 0 genome.wustl.edu 37 17 78064145 78064146 + In_Frame_Ins INS - - CAC TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 17 78064145 78064146 - CAC INS CCDC40 ENST00000374877 human ensembl 74_37 +1 known in_frame_ins c.3040_3041 p.1014in_frame_insT 0.064:0.067 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 tier1 11 0 0.00 8 6 42.86 CD46 0 genome.wustl.edu 37 1 207930371 207930371 + Missense_Mutation SNP A A T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 207930371 207930371 A T SNP CD46 ENST00000322875 human ensembl 74_37 +1 known missense c.110 p.E37V 0.000 pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD46 HGNC ENSG00000117335 tier1 - - 89 0 0.00 80 39 32.77 CD9 0 genome.wustl.edu 37 12 6309666 6309667 + Frame_Shift_Ins INS - - T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 12 6309666 6309667 - T INS CD9 ENST00000009180 human ensembl 74_37 +1 known frame_shift_ins c.1_2 p.M1fs 1.000:1.000 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD9 HGNC ENSG00000010278 tier1 68 0 0.00 58 21 26.58 CHPF2 0 genome.wustl.edu 37 7 150934477 150934477 + Silent SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 150934477 150934477 G A SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known silent c.1029 p.L343 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 tier1 - - 43 0 0.00 46 13 22.03 COL6A2 0 genome.wustl.edu 37 21 47552161 47552161 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 21 47552161 47552161 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.2755 p.A919T 0.013 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 tier1 - - 85 0 0.00 19 52 73.24 CPD 0 genome.wustl.edu 37 17 28758892 28758893 + Frame_Shift_Ins INS - - T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 17 28758892 28758893 - T INS CPD ENST00000225719 human ensembl 74_37 +1 known frame_shift_ins c.2120_2121 p.S708fs 1.000:1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 tier1 64 0 0.00 33 13 28.26 CPVL 0 genome.wustl.edu 37 7 29152428 29152428 + Missense_Mutation SNP C C G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 29152428 29152428 C G SNP CPVL ENST00000265394 human ensembl 74_37 -1 known missense c.180 p.L60F 0.976 NULL pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 tier1 - - 43 0 0.00 63 12 16.00 CSDE1 0 genome.wustl.edu 37 1 115277064 115277064 + Frame_Shift_Del DEL T T - TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 115277064 115277064 T - DEL CSDE1 ENST00000369530 human ensembl 74_37 -1 known frame_shift_del c.626 p.K209fs 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 tier1 34 0 0.00 10 2 16.67 CYB5B 0 genome.wustl.edu 37 16 69458712 69458712 + Nonsense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 16 69458712 69458712 G A SNP CYB5B ENST00000307892 human ensembl 74_37 +1 known nonsense c.126 p.W42* 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Aquaporin-like,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5B HGNC ENSG00000103018 tier1 - - 64 0 0.00 41 58 58.59 CYB5B 0 genome.wustl.edu 37 16 69458713 69458713 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 16 69458713 69458713 C T SNP CYB5B ENST00000307892 human ensembl 74_37 +1 known missense c.127 p.L43F 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Aquaporin-like,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5B HGNC ENSG00000103018 tier1 - - 64 0 0.00 43 56 56.57 CYP2E1 0 genome.wustl.edu 37 10 135345740 135345740 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 10 135345740 135345740 G T SNP CYP2E1 ENST00000252945 human ensembl 74_37 +1 known missense c.600 p.M200I 0.597 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 tier1 - - 31 0 0.00 14 7 33.33 CYP4Z2P 0 genome.wustl.edu 37 1 47325354 47325354 + RNA SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 47325354 47325354 G A SNP CYP4Z2P ENST00000505841 human ensembl 74_37 -1 known rna NULL NULL 0.965 - - - no_errors CYP4Z2P HGNC ENSG00000154198 65 0 0.00 64 6 8.57 DEFB105A 0 genome.wustl.edu 37 8 7679549 7679549 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 8 7679549 7679549 C T SNP DEFB105A ENST00000334773 human ensembl 74_37 -1 known missense c.218 p.C73Y 0.244 NULL NULL - no_errors DEFB105A HGNC ENSG00000186562 tier1 rs200757797 - 14 0 0.00 2 2 50.00 DGKI 0 genome.wustl.edu 37 7 137374666 137374666 + Nonsense_Mutation SNP C C A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 137374666 137374666 C A SNP DGKI ENST00000288490 human ensembl 74_37 -1 known nonsense c.484 p.E162* 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 tier1 - - 20 0 0.00 23 12 34.29 DIP2B 0 genome.wustl.edu 37 12 51064999 51064999 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 12 51064999 51064999 C T SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.458 p.S153F 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 tier1 - - 43 0 0.00 31 18 36.73 DNAAF1 0 genome.wustl.edu 37 16 84203815 84203815 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 16 84203815 84203815 G A SNP DNAAF1 ENST00000378553 human ensembl 74_37 +1 known missense c.1381 p.D461N 0.003 NULL NULL - no_errors DNAAF1 HGNC ENSG00000154099 tier1 - - 116 0 0.00 111 47 29.75 DNAJC9-AS1 0 genome.wustl.edu 37 10 75035029 75035029 + RNA SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 10 75035029 75035029 G A SNP DNAJC9-AS1 ENST00000440197 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DNAJC9-AS1 HGNC ENSG00000236756 tier1 - - 26 0 0.00 5 7 58.33 DNTTIP2 0 genome.wustl.edu 37 1 94338752 94338752 + Missense_Mutation SNP T T C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 94338752 94338752 T C SNP DNTTIP2 ENST00000436063 human ensembl 74_37 -1 known missense c.1825 p.I609V 0.636 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 tier1 - - 55 0 0.00 49 16 24.62 DOCK10 0 genome.wustl.edu 37 2 225710010 225710010 + Missense_Mutation SNP G G C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 225710010 225710010 G C SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.2391 p.H797Q 0.982 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 tier1 - - 38 0 0.00 36 6 14.29 DPY19L3 0 genome.wustl.edu 37 19 32927459 32927459 + Missense_Mutation SNP G G C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 19 32927459 32927459 G C SNP DPY19L3 ENST00000342179 human ensembl 74_37 +1 known missense c.436 p.V146L 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L3 HGNC ENSG00000178904 tier1 - - 78 0 0.00 46 18 28.12 EFCAB3 0 genome.wustl.edu 37 17 60484452 60484452 + Missense_Mutation SNP T T C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 17 60484452 60484452 T C SNP EFCAB3 ENST00000450662 human ensembl 74_37 +1 known missense c.902 p.V301A 0.987 NULL pfscan_EF_hand_dom - no_errors EFCAB3 HGNC ENSG00000172421 tier1 - - 45 0 0.00 37 23 38.33 ENSG00000200418 0 genome.wustl.edu 37 3 186504226 186504226 + RNA SNP T T C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 3 186504226 186504226 T C SNP ENSG00000200418 ENST00000363548 human ensembl 74_37 +1 novel rna NULL NULL 0.509 - - - no_errors SNORA63 RFAM ENSG00000200418 tier1 - - 18 0 0.00 14 27 65.85 ENSG00000221280 0 genome.wustl.edu 37 12 118604652 118604653 + RNA INS - - ACAC TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 12 118604652 118604653 - ACAC INS ENSG00000221280 ENST00000408353 human ensembl 74_37 +1 novel rna NULL NULL 0.002:0.000 - - - no_errors AC026366.1 Clone_based_ensembl_gene ENSG00000221280 tier1 10 0 0.00 23 3 11.54 ENSG00000235037 0 genome.wustl.edu 37 9 45415927 45415927 + RNA SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 9 45415927 45415927 G T SNP ENSG00000235037 ENST00000442207 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-187C18.5 Clone_based_vega_gene ENSG00000235037 tier1 - - 12 0 0.00 2 10 83.33 ENSG00000267954 0 genome.wustl.edu 37 22 24124522 24124522 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 22 24124522 24124522 C T SNP ENSG00000267954 ENST00000598975 human ensembl 74_37 -1 known missense c.692 p.R231Q 0.000 NULL NULL - no_errors AP000349.1 Clone_based_ensembl_gene ENSG00000267954 tier1 - - 86 0 0.00 95 38 28.57 ERG 0 genome.wustl.edu 37 21 39755332 39755332 + Missense_Mutation SNP T T C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 21 39755332 39755332 T C SNP ERG ENST00000398919 human ensembl 74_37 -1 known missense c.1454 p.Y485C 1.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERG HGNC ENSG00000157554 tier1 - - 134 0 0.00 137 14 9.27 EXD2 0 genome.wustl.edu 37 14 69701701 69701701 + Missense_Mutation SNP C C A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 14 69701701 69701701 C A SNP EXD2 ENST00000312994 human ensembl 74_37 +1 known missense c.1002 p.D334E 1.000 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD2 HGNC ENSG00000081177 tier1 - - 32 0 0.00 11 27 71.05 EXD3 0 genome.wustl.edu 37 9 140201471 140201471 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 9 140201471 140201471 G T SNP EXD3 ENST00000340951 human ensembl 74_37 -1 known missense c.2562 p.D854E 0.000 NULL pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 tier1 - - 43 0 0.00 62 4 6.06 FAM45A 0 genome.wustl.edu 37 10 120871395 120871395 + Missense_Mutation SNP A A T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 10 120871395 120871395 A T SNP FAM45A ENST00000361432 human ensembl 74_37 +1 known missense c.287 p.D96V 1.000 NULL pfam_ABL9/DENND6_dom - no_errors FAM45A HGNC ENSG00000119979 34 0 0.00 24 4 14.29 FAM86B3P 0 genome.wustl.edu 37 8 8096026 8096026 + RNA SNP T T G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 8 8096026 8096026 T G SNP FAM86B3P ENST00000590591 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM86B3P HGNC ENSG00000173295 33 0 0.00 23 6 20.69 FCN2 0 genome.wustl.edu 37 9 137779104 137779104 + Missense_Mutation SNP A A C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 9 137779104 137779104 A C SNP FCN2 ENST00000291744 human ensembl 74_37 +1 known missense c.785 p.Q262P 0.227 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN2 HGNC ENSG00000160339 tier1 - - 35 0 0.00 21 25 54.35 FLJ20444 0 genome.wustl.edu 37 9 66513868 66513868 + RNA SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 9 66513868 66513868 G A SNP FLJ20444 ENST00000586625 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-262H14.3 Clone_based_vega_gene ENSG00000234665 tier1 - - 563 0 0.00 497 46 8.47 FLJ34503 0 genome.wustl.edu 37 6 114225547 114225547 + RNA SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 6 114225547 114225547 G A SNP FLJ34503 ENST00000314481 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-544L8__B.4 Clone_based_vega_gene ENSG00000175967 tier1 - - 15 0 0.00 2 8 80.00 FLJ34503 0 genome.wustl.edu 37 6 114225548 114225548 + RNA SNP C C A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 6 114225548 114225548 C A SNP FLJ34503 ENST00000314481 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-544L8__B.4 Clone_based_vega_gene ENSG00000175967 tier1 - - 15 0 0.00 2 8 80.00 FMN2 0 genome.wustl.edu 37 1 240370785 240370785 + Silent SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 240370785 240370785 G T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.2673 p.L891 0.763 smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 26 0 0.00 40 14 25.93 FOXN2 0 genome.wustl.edu 37 2 48602081 48602081 + Missense_Mutation SNP A A C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 48602081 48602081 A C SNP FOXN2 ENST00000340553 human ensembl 74_37 +1 known missense c.795 p.K265N 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN2 HGNC ENSG00000170802 tier1 - - 31 0 0.00 31 9 22.50 FREM2 0 genome.wustl.edu 37 13 39438423 39438423 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 13 39438423 39438423 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.7663 p.V2555M 0.993 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 rs200997496 - 39 0 0.00 24 5 17.24 FREM3 0 genome.wustl.edu 37 4 144620046 144620046 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 4 144620046 144620046 G T SNP FREM3 ENST00000329798 human ensembl 74_37 -1 putative missense c.1783 p.P595T 0.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 tier1 - - 19 0 0.00 25 7 21.88 FRMPD1 0 genome.wustl.edu 37 9 37740199 37740199 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 9 37740199 37740199 G T SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.1674 p.Q558H 0.009 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 tier1 - - 34 0 0.00 13 35 72.92 GCC2 0 genome.wustl.edu 37 2 109087996 109087996 + Silent SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 109087996 109087996 G A SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known silent c.2211 p.E737 0.446 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 tier1 - - 22 0 0.00 17 9 34.62 GCC2 0 genome.wustl.edu 37 2 109087999 109087999 + Missense_Mutation SNP A A T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 109087999 109087999 A T SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known missense c.2214 p.Q738H 0.530 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 tier1 - - 25 0 0.00 17 10 37.04 GOLGA8A 0 genome.wustl.edu 37 15 34674006 34674006 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 15 34674006 34674006 C T SNP GOLGA8A ENST00000432566 human ensembl 74_37 -1 known missense c.1595 p.S532N 0.185 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 tier1 rs201334463 - 14 0 0.00 7 4 36.36 GOLGA8EP 0 genome.wustl.edu 37 15 23442114 23442114 + RNA SNP C C G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 15 23442114 23442114 C G SNP GOLGA8EP ENST00000526079 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GOLGA8EP HGNC ENSG00000175676 tier1 - - 15 0 0.00 5 3 37.50 GPR63 0 genome.wustl.edu 37 6 97247160 97247161 + Frame_Shift_Ins INS - - A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 6 97247160 97247161 - A INS GPR63 ENST00000229955 human ensembl 74_37 -1 known frame_shift_ins c.448_447 p.G149fs 1.000:0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR63 HGNC ENSG00000112218 tier1 26 0 0.00 16 2 11.11 GPR98 0 genome.wustl.edu 37 5 89985740 89985740 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 5 89985740 89985740 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.6553 p.V2185L 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 46 0 0.00 33 2 5.71 HECA 0 genome.wustl.edu 37 6 139487526 139487526 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 6 139487526 139487526 G T SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.377 p.S126I 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 tier1 - - 24 0 0.00 32 4 11.11 HIST1H1A 0 genome.wustl.edu 37 6 26017677 26017677 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 6 26017677 26017677 G T SNP HIST1H1A ENST00000244573 human ensembl 74_37 -1 known missense c.284 p.T95K 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1A HGNC ENSG00000124610 tier1 - - 89 0 0.00 23 41 64.06 HMGB2 0 genome.wustl.edu 37 4 174253306 174253306 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 4 174253306 174253306 G T SNP HMGB2 ENST00000296503 human ensembl 74_37 -1 known missense c.555 p.N185K 0.980 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB2 HGNC ENSG00000164104 tier1 - - 41 0 0.00 59 4 6.35 HSPBP1 0 genome.wustl.edu 37 19 55790905 55790905 + Silent SNP T T G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 19 55790905 55790905 T G SNP HSPBP1 ENST00000255631 human ensembl 74_37 -1 known silent c.72 p.S24 0.075 NULL superfamily_ARM-type_fold - no_errors HSPBP1 HGNC ENSG00000133265 40 0 0.00 30 2 6.25 IRX5 0 genome.wustl.edu 37 16 54967577 54967577 + Missense_Mutation SNP A A G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 16 54967577 54967577 A G SNP IRX5 ENST00000394636 human ensembl 74_37 +1 known missense c.1244 p.Y415C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 tier1 - - 92 0 0.00 64 7 9.86 ITCH 0 genome.wustl.edu 37 20 33050008 33050008 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 20 33050008 33050008 G A SNP ITCH ENST00000262650 human ensembl 74_37 +1 known missense c.1529 p.R510H 1.000 superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors ITCH HGNC ENSG00000078747 tier1 - - 50 0 0.00 39 15 27.78 ITGA6 0 genome.wustl.edu 37 2 173338917 173338917 + Missense_Mutation SNP G G C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 173338917 173338917 G C SNP ITGA6 ENST00000264106 human ensembl 74_37 +1 known missense c.1027 p.E343Q 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 tier1 - - 107 0 0.00 318 273 46.19 ITIH5 0 genome.wustl.edu 37 10 7628031 7628031 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 10 7628031 7628031 G T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.941 p.T314N 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 tier1 - - 60 0 0.00 69 35 33.65 KCNJ12 0 genome.wustl.edu 37 17 21319388 21319388 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 17 21319388 21319388 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.734 p.P245L 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 119 0 0.00 133 7 5.00 KHSRP 0 genome.wustl.edu 37 19 6417019 6417019 + Silent SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 19 6417019 6417019 G A SNP KHSRP ENST00000398148 human ensembl 74_37 -1 known silent c.1161 p.N387 0.076 smart_KH_dom pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHSRP HGNC ENSG00000088247 65 0 0.00 38 2 5.00 KLC1 0 genome.wustl.edu 37 14 104139456 104139456 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 14 104139456 104139456 G A SNP KLC1 ENST00000334553 human ensembl 74_37 +1 known missense c.1093 p.A365T 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC1 HGNC ENSG00000126214 tier1 - - 47 0 0.00 33 11 25.00 L1CAM 0 genome.wustl.edu 37 X 153134086 153134086 + Silent SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b X 153134086 153134086 G A SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known silent c.1482 p.T494 0.012 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 tier1 rs150805225 - 50 0 0.00 12 28 70.00 LOC100996870 0 genome.wustl.edu 37 9 66466602 66466602 + RNA SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 9 66466602 66466602 C T SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 tier1 - - 14 0 0.00 11 7 38.89 LRCH2 0 genome.wustl.edu 37 X 114422839 114422839 + Silent SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b X 114422839 114422839 G T SNP LRCH2 ENST00000317135 human ensembl 74_37 -1 known silent c.444 p.T148 0.994 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 tier1 - - 66 0 0.00 14 34 70.83 MAATS1 0 genome.wustl.edu 37 3 119452302 119452302 + Silent SNP T T A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 3 119452302 119452302 T A SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known silent c.1293 p.G431 0.825 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 tier1 - - 68 0 0.00 35 44 55.70 MASP1 0 genome.wustl.edu 37 3 186944257 186944257 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 3 186944257 186944257 G A SNP MASP1 ENST00000337774 human ensembl 74_37 -1 known missense c.1493 p.P498L 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MASP1 HGNC ENSG00000127241 tier1 - - 40 0 0.00 101 34 25.19 MDH2 0 genome.wustl.edu 37 7 75684274 75684274 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 75684274 75684274 G A SNP MDH2 ENST00000315758 human ensembl 74_37 +1 known missense c.193 p.A65T 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1 - no_errors MDH2 HGNC ENSG00000146701 25 0 0.00 30 4 11.76 MDH2 0 genome.wustl.edu 37 7 75684275 75684275 + Missense_Mutation SNP C C A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 75684275 75684275 C A SNP MDH2 ENST00000315758 human ensembl 74_37 +1 known missense c.194 p.A65D 1.000 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1 - no_errors MDH2 HGNC ENSG00000146701 24 0 0.00 32 4 11.11 MIR520D 0 genome.wustl.edu 37 19 54223358 54223358 + RNA SNP T T G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 19 54223358 54223358 T G SNP MIR520D ENST00000385002 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors MIR520D HGNC ENSG00000207735 tier1 - - 111 0 0.00 94 34 26.56 MIR600HG 0 genome.wustl.edu 37 9 125874164 125874164 + RNA SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 9 125874164 125874164 G A SNP MIR600HG ENST00000449175 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR600HG HGNC ENSG00000236901 tier1 - - 57 0 0.00 47 14 22.95 MORC1 0 genome.wustl.edu 37 3 108751662 108751662 + Silent SNP A A C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 3 108751662 108751662 A C SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known silent c.1470 p.L490 0.998 pfam_Znf_CW,pfscan_Znf_CW pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 tier1 - - 29 0 0.00 42 8 16.00 MRGPRX1 0 genome.wustl.edu 37 11 18955619 18955619 + Missense_Mutation SNP A A G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 11 18955619 18955619 A G SNP MRGPRX1 ENST00000302797 human ensembl 74_37 -1 known missense c.713 p.L238P 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 tier1 - - 73 0 0.00 63 22 25.88 MTERFD2 0 genome.wustl.edu 37 2 242028575 242028575 + RNA SNP T T C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 242028575 242028575 T C SNP MTERFD2 ENST00000455202 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTERFD2 HGNC ENSG00000122085 tier1 - - 8 0 0.00 6 10 62.50 MTF2 0 genome.wustl.edu 37 1 93602676 93602677 + RNA DEL AA AA - TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 93602676 93602677 AA - DEL MTF2 ENST00000467953 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.997 - - - no_errors MTF2 HGNC ENSG00000143033 tier1 36 0 0.00 38 2 5.00 MTUS2 0 genome.wustl.edu 37 13 29675068 29675068 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 13 29675068 29675068 G T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2635 p.G879W 0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 40 0 0.00 54 30 35.71 MUC12 0 genome.wustl.edu 37 7 100637074 100637074 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 100637074 100637074 G A SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.3230 p.R1077H 0.000 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 rs200730762 - 27 0 0.00 48 7 12.73 MUC17 0 genome.wustl.edu 37 7 100681041 100681041 + Missense_Mutation SNP C C A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 100681041 100681041 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.6344 p.A2115D 0.003 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 92 0 0.00 92 48 34.29 MUC7 0 genome.wustl.edu 37 4 71346520 71346520 + Missense_Mutation SNP G G C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 4 71346520 71346520 G C SNP MUC7 ENST00000304887 human ensembl 74_37 +1 known missense c.59 p.S20T 0.979 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 tier1 - - 27 0 0.00 22 25 53.19 MYNN 0 genome.wustl.edu 37 3 169492192 169492192 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 3 169492192 169492192 G T SNP MYNN ENST00000349841 human ensembl 74_37 +1 known missense c.109 p.A37S 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like 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 MYNN HGNC ENSG00000085274 tier1 - - 66 0 0.00 202 21 9.42 MYO16 0 genome.wustl.edu 37 13 109704676 109704676 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 13 109704676 109704676 G T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.2835 p.L945F 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 33 0 0.00 59 11 15.71 NAA16 0 genome.wustl.edu 37 13 41932534 41932534 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 13 41932534 41932534 G T SNP NAA16 ENST00000379406 human ensembl 74_37 +1 known missense c.1182 p.L394F 0.999 smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 tier1 - - 62 0 0.00 66 4 5.71 NAV2 0 genome.wustl.edu 37 11 20066599 20066599 + Silent SNP C C A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 11 20066599 20066599 C A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known silent c.3354 p.G1118 0.680 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 - - 43 0 0.00 27 14 34.15 NDST3 0 genome.wustl.edu 37 4 119163246 119163246 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 4 119163246 119163246 G A SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.2341 p.D781N 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 tier1 - - 53 0 0.00 51 12 19.05 NKAIN3 0 genome.wustl.edu 37 8 63878010 63878010 + RNA SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 8 63878010 63878010 G T SNP NKAIN3 ENST00000519049 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NKAIN3 HGNC ENSG00000185942 tier1 - - 23 0 0.00 12 6 33.33 NKAIN3 0 genome.wustl.edu 37 8 63878011 63878011 + RNA SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 8 63878011 63878011 C T SNP NKAIN3 ENST00000519049 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NKAIN3 HGNC ENSG00000185942 tier1 - - 24 0 0.00 12 6 33.33 NKTR 0 genome.wustl.edu 37 3 42659117 42659117 + Missense_Mutation SNP C C G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 3 42659117 42659117 C G SNP NKTR ENST00000232978 human ensembl 74_37 +1 known missense c.114 p.N38K 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 tier1 - - 43 0 0.00 18 18 50.00 NOTCH1 0 genome.wustl.edu 37 9 139418316 139418317 + Frame_Shift_Ins INS - - A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 9 139418316 139418317 - A INS NOTCH1 ENST00000277541 human ensembl 74_37 -1 known frame_shift_ins c.256_255 p.A85fs 0.309:0.316 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 102 0 0.00 26 56 68.29 NR1I2 0 genome.wustl.edu 37 3 119530496 119530496 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 3 119530496 119530496 C T SNP NR1I2 ENST00000337940 human ensembl 74_37 +1 known missense c.559 p.R187W 0.534 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 tier1 - - 67 0 0.00 53 20 27.40 NR2E1 0 genome.wustl.edu 37 6 108489319 108489319 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 6 108489319 108489319 C T SNP NR2E1 ENST00000368983 human ensembl 74_37 +1 novel missense c.89 p.P30L 0.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2E1 HGNC ENSG00000112333 tier1 - - 68 0 0.00 12 26 68.42 NSD1 0 genome.wustl.edu 37 5 176618958 176618958 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 5 176618958 176618958 G T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.1001 p.R334L 1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 54 0 0.00 71 4 5.33 NTN4 0 genome.wustl.edu 37 12 96180836 96180836 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 12 96180836 96180836 G A SNP NTN4 ENST00000343702 human ensembl 74_37 -1 known missense c.466 p.P156S 1.000 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC ENSG00000074527 tier1 - - 49 0 0.00 43 14 24.56 NTN4 0 genome.wustl.edu 37 12 96180837 96180837 + Missense_Mutation SNP C C A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 12 96180837 96180837 C A SNP NTN4 ENST00000343702 human ensembl 74_37 -1 known missense c.465 p.K155N 1.000 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC ENSG00000074527 tier1 - - 48 0 0.00 42 14 25.00 NTRK1 0 genome.wustl.edu 37 1 156837937 156837937 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 156837937 156837937 G A SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known missense c.470 p.R157H 0.767 smart_Cys-rich_flank_reg_C pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,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_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 tier1 rs141021604 - 54 0 0.00 33 40 54.79 OR10G7 0 genome.wustl.edu 37 11 123908903 123908903 + Missense_Mutation SNP C C G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 11 123908903 123908903 C G SNP OR10G7 ENST00000330487 human ensembl 74_37 -1 known missense c.806 p.G269A 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G7 HGNC ENSG00000182634 tier1 - - 108 0 0.00 48 55 53.40 OR1J1 0 genome.wustl.edu 37 9 125239311 125239311 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 9 125239311 125239311 C T SNP OR1J1 ENST00000259357 human ensembl 74_37 -1 known missense c.895 p.G299R 0.607 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J1 HGNC ENSG00000136834 tier1 - - 77 0 0.00 69 30 30.30 OR5D13 0 genome.wustl.edu 37 11 55541412 55541412 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 11 55541412 55541412 G A SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.499 p.D167N 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 tier1 - - 51 0 0.00 46 11 19.30 PAFAH2 0 genome.wustl.edu 37 1 26299081 26299081 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 26299081 26299081 C T SNP PAFAH2 ENST00000374282 human ensembl 74_37 -1 known missense c.1052 p.R351Q 0.963 pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote pfam_PAF_acetylhydro,pfam_Peptidase_S9,pirsf_PAF_acetylhydro_eukaryote - no_errors PAFAH2 HGNC ENSG00000158006 tier1 - - 61 0 0.00 38 25 39.68 PDE8A 0 genome.wustl.edu 37 15 85652346 85652346 + Frame_Shift_Del DEL T T - TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 15 85652346 85652346 T - DEL PDE8A ENST00000310298 human ensembl 74_37 +1 known frame_shift_del c.1099 p.S367fs 0.510 NULL pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 tier1 39 0 0.00 9 2 18.18 PEX5 0 genome.wustl.edu 37 12 7343151 7343151 + Missense_Mutation SNP G G C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 12 7343151 7343151 G C SNP PEX5 ENST00000434354 human ensembl 74_37 +1 known missense c.178 p.A60P 0.005 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 tier1 - - 44 0 0.00 55 7 11.29 PGAM2 0 genome.wustl.edu 37 7 44104883 44104883 + Silent SNP C C A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 44104883 44104883 C A SNP PGAM2 ENST00000297283 human ensembl 74_37 -1 known silent c.246 p.V82 0.854 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM2 HGNC ENSG00000164708 tier1 - - 42 0 0.00 46 16 25.81 PIEZO1 0 genome.wustl.edu 37 16 88788401 88788401 + Missense_Mutation SNP G G C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 16 88788401 88788401 G C SNP PIEZO1 ENST00000301015 human ensembl 74_37 -1 novel missense c.5029 p.R1677G 0.960 NULL pfam_Piezo - no_errors PIEZO1 HGNC ENSG00000103335 tier1 - - 63 0 0.00 57 25 30.49 PLXNB2 0 genome.wustl.edu 37 22 50715316 50715316 + Frame_Shift_Del DEL A A - TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 22 50715316 50715316 A - DEL PLXNB2 ENST00000359337 human ensembl 74_37 -1 known frame_shift_del c.5216 p.L1739fs 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 tier1 43 0 0.00 63 34 35.05 PRRG2 0 genome.wustl.edu 37 19 50093637 50093637 + Silent SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 19 50093637 50093637 G A SNP PRRG2 ENST00000246794 human ensembl 74_37 +1 known silent c.600 p.R200 0.282 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG2 HGNC ENSG00000126460 tier1 - - 70 0 0.00 34 30 46.88 PTCH2 0 genome.wustl.edu 37 1 45292310 45292310 + Silent SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 45292310 45292310 C T SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known silent c.2826 p.V942 0.999 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 tier1 - - 42 0 0.00 33 12 26.67 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 tier1 47 0 0.00 34 5 12.82 RABL2A 0 genome.wustl.edu 37 2 114398886 114398886 + RNA SNP C C G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 114398886 114398886 C G SNP RABL2A ENST00000477218 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors RABL2A HGNC ENSG00000144134 tier1 - - 66 0 0.00 62 21 25.30 RBM15 0 genome.wustl.edu 37 1 110882727 110882727 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 110882727 110882727 G T SNP RBM15 ENST00000369784 human ensembl 74_37 +1 known missense c.700 p.A234S 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 tier1 - - 60 0 0.00 55 26 32.10 RBM15 0 genome.wustl.edu 37 1 110882728 110882728 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 110882728 110882728 C T SNP RBM15 ENST00000369784 human ensembl 74_37 +1 known missense c.701 p.A234V 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 tier1 - - 58 0 0.00 55 26 32.10 RBM43 0 genome.wustl.edu 37 2 152108087 152108088 + Frame_Shift_Ins INS - - T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 152108087 152108088 - T INS RBM43 ENST00000331426 human ensembl 74_37 -1 known frame_shift_ins c.407_406 p.I136fs 0.964:0.959 NULL pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 tier1 34 0 0.00 38 2 5.00 REG1B 0 genome.wustl.edu 37 2 79312718 79312718 + Missense_Mutation SNP C C A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 79312718 79312718 C A SNP REG1B ENST00000305089 human ensembl 74_37 -1 known missense c.333 p.W111C 0.163 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG1B HGNC ENSG00000172023 tier1 - - 31 0 0.00 68 5 6.85 RIMKLB 0 genome.wustl.edu 37 12 8904626 8904626 + Silent SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 12 8904626 8904626 G A SNP RIMKLB ENST00000357529 human ensembl 74_37 +1 known silent c.480 p.T160 0.980 pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC ENSG00000166532 tier1 - - 107 0 0.00 75 25 25.00 SCN1A 0 genome.wustl.edu 37 2 166872165 166872165 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 166872165 166872165 C T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.3502 p.V1168I 0.737 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 rs146374754 - 55 0 0.00 39 17 30.36 SERGEF 0 genome.wustl.edu 37 11 17809891 17809891 + Missense_Mutation SNP C C G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 11 17809891 17809891 C G SNP SERGEF ENST00000265965 human ensembl 74_37 -1 known missense c.1118 p.W373S 0.996 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors SERGEF HGNC ENSG00000129158 tier1 - - 39 0 0.00 36 13 26.53 SH3KBP1 0 genome.wustl.edu 37 X 19568146 19568147 + Frame_Shift_Ins INS - - T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b X 19568146 19568147 - T INS SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known frame_shift_ins c.1440_1439 p.T481fs 0.995:1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 tier1 62 0 0.00 24 38 61.29 SH3KBP1 0 genome.wustl.edu 37 X 19568147 19568147 + Missense_Mutation SNP G G C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b X 19568147 19568147 G C SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known missense c.1439 p.T480S 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 tier1 - - 61 0 0.00 19 38 63.33 SLC12A1 0 genome.wustl.edu 37 15 48595067 48595067 + Missense_Mutation SNP G G C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 15 48595067 48595067 G C SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.3285 p.L1095F 0.995 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 tier1 - - 48 0 0.00 28 11 28.21 SLC26A7 0 genome.wustl.edu 37 8 92406495 92406495 + Missense_Mutation SNP C C A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 8 92406495 92406495 C A SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known missense c.1985 p.P662Q 0.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 tier1 - - 67 0 0.00 49 28 36.36 SLC47A1 0 genome.wustl.edu 37 17 19398716 19398716 + RNA SNP T T C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 17 19398716 19398716 T C SNP SLC47A1 ENST00000584348 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors SLC47A1 HGNC ENSG00000142494 tier1 - - 30 0 0.00 23 4 14.81 SLC47A1 0 genome.wustl.edu 37 17 19398717 19398717 + RNA SNP G G C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 17 19398717 19398717 G C SNP SLC47A1 ENST00000584348 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors SLC47A1 HGNC ENSG00000142494 tier1 - - 30 0 0.00 23 4 14.81 SLK 0 genome.wustl.edu 37 10 105762560 105762560 + Missense_Mutation SNP A A T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 10 105762560 105762560 A T SNP SLK ENST00000369755 human ensembl 74_37 +1 known missense c.1624 p.I542F 0.000 superfamily_Kinase-like_dom pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_dom - no_errors SLK HGNC ENSG00000065613 tier1 - - 28 0 0.00 21 10 31.25 SPOCK3 0 genome.wustl.edu 37 4 167658627 167658627 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 4 167658627 167658627 C T SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known missense c.1132 p.A378T 0.567 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 tier1 - - 31 0 0.00 19 8 29.63 SYCP1 0 genome.wustl.edu 37 1 115537630 115537630 + Nonsense_Mutation SNP T T A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 115537630 115537630 T A SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known nonsense c.2921 p.L974* 0.605 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 tier1 - - 31 0 0.00 22 5 18.52 SYNE1 0 genome.wustl.edu 37 6 152751661 152751661 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 6 152751661 152751661 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.4645 p.G1549R 0.997 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 41 0 0.00 37 10 21.28 SYNPO2 0 genome.wustl.edu 37 4 119978554 119978554 + Splice_Site SNP A A C TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 4 119978554 119978554 A C SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known splice_site c.3253-2 e5-2 1.000 - - - no_errors SYNPO2 HGNC ENSG00000172403 tier1 - - 40 0 0.00 44 12 21.43 TGFBR2 0 genome.wustl.edu 37 3 30713299 30713299 + Silent SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 3 30713299 30713299 G A SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known silent c.699 p.K233 0.938 pirsf_Transform_growth_fac-b_typ-2 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 - - 27 0 0.00 15 4 21.05 TLE4 0 genome.wustl.edu 37 9 82336710 82336710 + Silent SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 9 82336710 82336710 C T SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known silent c.1989 p.G663 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 tier1 - - 40 0 0.00 27 16 37.21 TNC 0 genome.wustl.edu 37 9 117838320 117838320 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 9 117838320 117838320 C T SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.2941 p.A981T 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 tier1 rs139800185 - 82 0 0.00 78 23 22.77 TNN 0 genome.wustl.edu 37 1 175054550 175054550 + Missense_Mutation SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 175054550 175054550 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.1244 p.P415L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 tier1 - - 76 0 0.00 65 16 19.75 TNS1 0 genome.wustl.edu 37 2 218679706 218679706 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 218679706 218679706 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.4346 p.T1449M 0.963 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 tier1 - - 43 0 0.00 64 4 5.88 TP53 0 genome.wustl.edu 37 17 7579497 7579498 + Frame_Shift_Del DEL GA GA - TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 17 7579497 7579498 GA - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.190_189 p.P64fs 0.000:0.000 NULL 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 50 0 0.00 20 33 62.26 TPTE2P6 0 genome.wustl.edu 37 13 25161430 25161430 + RNA SNP C C G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 13 25161430 25161430 C G SNP TPTE2P6 ENST00000440905 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors TPTE2P6 HGNC ENSG00000205822 tier1 - - 150 0 0.00 92 49 34.51 TRIP12 0 genome.wustl.edu 37 2 230693989 230693989 + Missense_Mutation SNP C C G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 230693989 230693989 C G SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.1226 p.R409T 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 tier1 - - 13 0 0.00 24 9 27.27 TRMT12 0 genome.wustl.edu 37 8 125463784 125463784 + Missense_Mutation SNP A A G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 8 125463784 125463784 A G SNP TRMT12 ENST00000328599 human ensembl 74_37 +1 known missense c.616 p.I206V 0.998 pfam_tRNA_Trfase_Trm5/Tyw2 pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT12 HGNC ENSG00000183665 tier1 - - 83 0 0.00 81 22 21.36 TRRAP 0 genome.wustl.edu 37 7 98586521 98586521 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 98586521 98586521 G T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.9535 p.A3179S 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 39 0 0.00 40 11 21.57 TTC39A 0 genome.wustl.edu 37 1 51754605 51754605 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 1 51754605 51754605 G T SNP TTC39A ENST00000447632 human ensembl 74_37 -1 known missense c.1624 p.H542N 1.000 NULL pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 tier1 - - 61 0 0.00 48 4 7.69 TUBGCP5 0 genome.wustl.edu 37 15 22855120 22855120 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 15 22855120 22855120 G T SNP TUBGCP5 ENST00000283645 human ensembl 74_37 +1 known missense c.1581 p.M527I 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP5 HGNC ENSG00000153575 44 0 0.00 35 2 5.41 VSTM2A 0 genome.wustl.edu 37 7 54617841 54617841 + Silent SNP C C A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 54617841 54617841 C A SNP VSTM2A ENST00000402026 human ensembl 74_37 +1 known silent c.609 p.I203 0.979 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2A HGNC ENSG00000170419 11 0 0.00 27 4 12.90 ZEB2 0 genome.wustl.edu 37 2 145156713 145156713 + Missense_Mutation SNP C C G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 2 145156713 145156713 C G SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.2041 p.V681L 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 tier1 - - 72 0 0.00 39 48 55.17 ZFP91 0 genome.wustl.edu 37 11 58384886 58384886 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 11 58384886 58384886 G T SNP ZFP91 ENST00000316059 human ensembl 74_37 +1 known missense c.1420 p.D474Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP91 HGNC ENSG00000186660 tier1 - - 35 0 0.00 8 26 76.47 ZNF525 0 genome.wustl.edu 37 19 53888325 53888325 + RNA SNP A A G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 19 53888325 53888325 A G SNP ZNF525 ENST00000601790 human ensembl 74_37 +1 known rna NULL NULL 0.580 - - - no_errors ZNF525 HGNC ENSG00000203326 tier1 - - 37 0 0.00 24 12 33.33 ZNF571 0 genome.wustl.edu 37 19 38056953 38056953 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 19 38056953 38056953 G A SNP ZNF571 ENST00000328550 human ensembl 74_37 -1 known missense c.377 p.S126F 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 ZNF571 HGNC ENSG00000180479 tier1 - - 62 0 0.00 24 51 68.00 ZNF579 0 genome.wustl.edu 37 19 56090160 56090160 + Frame_Shift_Del DEL G G - TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 19 56090160 56090160 G - DEL ZNF579 ENST00000325421 human ensembl 74_37 -1 known frame_shift_del c.846 p.W283fs 0.990 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF579 HGNC ENSG00000218891 tier1 13 0 0.00 11 6 35.29 ZNF579 0 genome.wustl.edu 37 19 56090162 56090162 + Missense_Mutation SNP G G A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 19 56090162 56090162 G A SNP ZNF579 ENST00000325421 human ensembl 74_37 -1 known missense c.844 p.P282S 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF579 HGNC ENSG00000218891 12 0 0.00 10 7 41.18 ZNF579 0 genome.wustl.edu 37 19 56090163 56090163 + Missense_Mutation SNP C C A TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 19 56090163 56090163 C A SNP ZNF579 ENST00000325421 human ensembl 74_37 -1 known missense c.843 p.R281S 0.993 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF579 HGNC ENSG00000218891 13 0 0.00 10 7 41.18 ZNF775 0 genome.wustl.edu 37 7 150093612 150093612 + Missense_Mutation SNP G G T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 150093612 150093612 G T SNP ZNF775 ENST00000329630 human ensembl 74_37 +1 known missense c.43 p.V15L 0.106 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 tier1 - - 46 0 0.00 44 6 12.00 ZNF804B 0 genome.wustl.edu 37 7 88964139 88964139 + Missense_Mutation SNP A A G TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 7 88964139 88964139 A G SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.1843 p.K615E 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 28 0 0.00 27 12 30.77 ZNRF1 0 genome.wustl.edu 37 16 75140446 75140446 + RNA SNP C C T TCGA-LN-A5U6-01A-11D-A28B-09 TCGA-LN-A5U6-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6d4ade9a-d7b2-48d5-95fa-6e2d0936d619 17f782f9-3359-4161-81f1-246e8049bb5b 16 75140446 75140446 C T SNP ZNRF1 ENST00000564320 human ensembl 74_37 +1 known rna NULL NULL 0.929 - - - no_errors ZNRF1 HGNC ENSG00000186187 tier1 - - 39 0 0.00 58 15 20.55