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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val NGRN 0 genome.wustl.edu 37 15 90814896 90814896 + Missense_Mutation SNP C C T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 15 90814896 90814896 C T SNP NGRN ENST00000379095 human ensembl 74_37 +1 known missense c.752 p.A251V 0.000 pfam_Neugrin-related pfam_Neugrin-related - no_errors NGRN HGNC ENSG00000182768 tier1 - - 158 0 0.00 69 117 62.90 18 0 0.00 10 5 33.33 SCNN1G 0 genome.wustl.edu 37 16 23197641 23197641 + Missense_Mutation SNP G G A TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 16 23197641 23197641 G A SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known missense c.49 p.V17M 0.446 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 tier1 - - 72 0 0.00 5 43 89.58 67 0 0.00 10 56 84.85 CBX8 0 genome.wustl.edu 37 17 77769090 77769090 + Missense_Mutation SNP G G A TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 17 77769090 77769090 G A SNP CBX8 ENST00000269385 human ensembl 74_37 -1 known missense c.514 p.R172W 0.036 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 tier1 - - 179 0 0.00 226 56 19.79 102 0 0.00 125 29 18.71 SMARCA2 0 genome.wustl.edu 37 9 2161707 2161707 + Nonsense_Mutation SNP G G T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 9 2161707 2161707 G T SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known nonsense c.4003 p.E1335* 1.000 superfamily_RNaseH-like_dom pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_D-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_D-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 - - 178 1 0.56 188 69 26.85 113 0 0.00 171 29 14.50 TCOF1 0 genome.wustl.edu 37 5 149747446 149747446 + Missense_Mutation SNP C C T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 5 149747446 149747446 C T SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known missense c.344 p.A115V 0.000 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 tier1 rs200375016 GMAF=0.0005 88 0 0.00 35 26 42.62 97 0 0.00 50 36 41.86 TMEM63B 0 genome.wustl.edu 37 6 44122120 44122120 + Missense_Mutation SNP G G A TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 6 44122120 44122120 G A SNP TMEM63B ENST00000259746 human ensembl 74_37 +1 known missense c.2245 p.D749N 0.908 NULL pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 tier1 - - 41 0 0.00 92 19 17.12 72 0 0.00 135 25 15.53 FGD2 0 genome.wustl.edu 37 6 36990132 36990132 + Missense_Mutation SNP C C T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 6 36990132 36990132 C T SNP FGD2 ENST00000274963 human ensembl 74_37 +1 known missense c.1444 p.R482W 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD2 HGNC ENSG00000146192 tier1 - - 199 1 0.50 238 73 23.40 7 0 0.00 29 4 12.12 OR2J1 0 genome.wustl.edu 37 6 29068810 29068810 + Missense_Mutation SNP G G T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 6 29068810 29068810 G T SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known missense c.91 p.V31F 0.827 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 tier1 - - 245 0 0.00 367 64 14.85 48 0 0.00 103 15 12.61 PAPPA 0 genome.wustl.edu 37 9 118949745 118949745 + Missense_Mutation SNP G G T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 9 118949745 118949745 G T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.728 p.S243I 1.000 superfamily_ConA-like_lec_gl_sf,smart_LamG-like pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 tier1 - - 76 0 0.00 23 35 60.34 86 0 0.00 33 62 65.26 COL4A2 0 genome.wustl.edu 37 13 111080930 111080930 + Silent SNP C C T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 13 111080930 111080930 C T SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known silent c.477 p.P159 0.034 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 tier1 - - 144 0 0.00 128 58 31.18 38 0 0.00 23 8 25.81 ZNF221 0 genome.wustl.edu 37 19 44470547 44470547 + Missense_Mutation SNP A A G TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 19 44470547 44470547 A G SNP ZNF221 ENST00000251269 human ensembl 74_37 +1 known missense c.893 p.Q298R 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF221 HGNC ENSG00000159905 tier1 - - 182 0 0.00 131 145 52.54 30 0 0.00 28 40 58.82 ADCY5 0 genome.wustl.edu 37 3 123010114 123010114 + Missense_Mutation SNP C C T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 3 123010114 123010114 C T SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known missense c.3173 p.R1058H 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 tier1 - - 82 0 0.00 46 33 41.77 44 0 0.00 23 10 30.30 MRPL15 0 genome.wustl.edu 37 8 55047874 55047874 + Missense_Mutation SNP C C T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 8 55047874 55047874 C T SNP MRPL15 ENST00000260102 human ensembl 74_37 +1 known missense c.31 p.R11W 0.000 NULL pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors MRPL15 HGNC ENSG00000137547 tier1 - - 441 0 0.00 197 169 46.17 20 0 0.00 12 9 42.86 RTN1 0 genome.wustl.edu 37 14 60193761 60193761 + Silent SNP C C A TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 14 60193761 60193761 C A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known silent c.1641 p.T547 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 tier1 - - 131 0 0.00 96 41 29.93 84 0 0.00 52 31 36.90 TMPRSS11B 0 genome.wustl.edu 37 4 69107497 69107497 + Missense_Mutation SNP A A C TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 4 69107497 69107497 A C SNP TMPRSS11B ENST00000332644 human ensembl 74_37 -1 known missense c.34 p.W12G 0.012 pirsf_Pept_S1A_HAT/DESC1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11B HGNC ENSG00000185873 tier1 - - 113 0 0.00 131 15 10.27 109 0 0.00 131 16 10.88 GPR112 0 genome.wustl.edu 37 X 135427331 135427331 + Missense_Mutation SNP C C T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 X 135427331 135427331 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.1466 p.T489I 0.037 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 96 0 0.00 35 36 50.70 106 0 0.00 56 28 33.33 CHD6 0 genome.wustl.edu 37 20 40044280 40044280 + Splice_Site SNP T T C TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 20 40044280 40044280 T C SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known splice_site c.6487-2 e33-2 1.000 - - - no_errors CHD6 HGNC ENSG00000124177 tier1 - - 33 0 0.00 62 9 12.68 102 0 0.00 68 23 25.00 CYP2G1P 0 genome.wustl.edu 37 19 41404425 41404425 + R SNP C C T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 19 41404425 41404425 C T SNP CYP2G1P ENST00000252909 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CYP2G1P HGNC ENSG00000130612 tier1 - - 154 1 0.65 195 110 36.07 88 0 0.00 104 51 32.69 C2CD5 0 genome.wustl.edu 37 12 22697070 22697070 + Silent SNP C C T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 12 22697070 22697070 C T SNP C2CD5 ENST00000333957 human ensembl 74_37 -1 known silent c.15 p.L5 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors C2CD5 HGNC ENSG00000111731 tier1 - - 94 0 0.00 40 61 60.40 80 0 0.00 32 38 54.29 GTPBP1 0 genome.wustl.edu 37 22 39101991 39101991 + Missense_Mutation SNP G G T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 22 39101991 39101991 G T SNP GTPBP1 ENST00000216044 human ensembl 74_37 +1 known missense c.31 p.D11Y 1.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP1 HGNC ENSG00000100226 tier1 - - 26 0 0.00 15 15 50.00 10 0 0.00 14 9 39.13 PTENP1 0 genome.wustl.edu 37 9 33675550 33675550 + R SNP G G A TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 9 33675550 33675550 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 tier1 - - 114 0 0.00 99 89 47.34 118 0 0.00 80 74 47.44 C2CD5 0 genome.wustl.edu 37 12 22697034 22697034 + Silent SNP C C T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 12 22697034 22697034 C T SNP C2CD5 ENST00000333957 human ensembl 74_37 -1 known silent c.51 p.V17 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors C2CD5 HGNC ENSG00000111731 tier1 - - 103 0 0.00 36 62 63.27 77 0 0.00 31 43 58.11 ENSG00000227719 0 genome.wustl.edu 37 7 8153701 8153701 + R SNP A A G TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 7 8153701 8153701 A G SNP ENSG00000227719 ENST00000449931 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC006042.6 Clone_based_vega_gene ENSG00000227719 tier1 - - 71 0 0.00 64 57 46.72 109 0 0.00 74 63 45.99 MYH2 0 genome.wustl.edu 37 17 10426842 10426842 + Missense_Mutation SNP T T C TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 17 10426842 10426842 T C SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.5443 p.K1815E 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 188 0 0.00 272 47 14.73 39 0 0.00 46 13 22.03 TRAPPC6B 0 genome.wustl.edu 37 14 39627487 39627487 + Splice_Site SNP A A G TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 14 39627487 39627487 A G SNP TRAPPC6B ENST00000347691 human ensembl 74_37 -1 known splice_site c.267+2 e3+2 1.000 - - - no_errors TRAPPC6B HGNC ENSG00000182400 tier1 - - 166 0 0.00 138 43 23.76 136 0 0.00 127 51 28.49 MEP1A 0 genome.wustl.edu 37 6 46766860 46766860 + Silent SNP G G A TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 6 46766860 46766860 G A SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known silent c.204 p.L68 0.974 pirsf_Pept_M12A_Meprin pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 tier1 - - 158 0 0.00 262 62 19.14 164 0 0.00 225 45 16.61 TMEM35 0 genome.wustl.edu 37 X 100349695 100349695 + Missense_Mutation SNP G G A TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 X 100349695 100349695 G A SNP TMEM35 ENST00000372930 human ensembl 74_37 +1 known missense c.254 p.R85H 1.000 NULL NULL - no_errors TMEM35 HGNC ENSG00000126950 tier1 - - 221 0 0.00 91 73 44.51 89 0 0.00 45 31 40.79 ZCCHC12 0 genome.wustl.edu 37 X 117959330 117959330 + Silent SNP A A T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 X 117959330 117959330 A T SNP ZCCHC12 ENST00000310164 human ensembl 74_37 +1 known silent c.123 p.A41 0.996 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ENSG00000174460 tier1 - - 83 0 0.00 31 29 48.33 69 0 0.00 34 18 34.62 CSTF2T 0 genome.wustl.edu 37 10 53457702 53457702 + Silent SNP G G A TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 10 53457702 53457702 G A SNP CSTF2T ENST00000331173 human ensembl 74_37 -1 known silent c.1608 p.V536 0.676 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 tier1 - - 175 0 0.00 210 56 21.05 105 0 0.00 146 56 27.72 CELP 0 genome.wustl.edu 37 9 135959920 135959920 + R SNP G G A TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 9 135959920 135959920 G A SNP CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.858 - - - no_errors CELP HGNC ENSG00000170827 tier1 - - 43 0 0.00 33 12 26.67 16 0 0.00 11 4 26.67 TRIO 0 genome.wustl.edu 37 5 14359550 14359550 + Silent SNP G G T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 5 14359550 14359550 G T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.2301 p.A767 0.964 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssD_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 - - 110 0 0.00 87 90 50.56 24 0 0.00 26 23 46.94 TRHR 0 genome.wustl.edu 37 8 110099856 110099856 + Missense_Mutation SNP G G A TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 8 110099856 110099856 G A SNP TRHR ENST00000311762 human ensembl 74_37 +1 known missense c.115 p.G39S 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_TRH_rcpt_1,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TRH_rcpt_1,prints_GPCR_Rhodpsn - no_errors TRHR HGNC ENSG00000174417 tier1 - - 158 0 0.00 63 62 49.60 110 0 0.00 66 59 47.20 ROR2 0 genome.wustl.edu 37 9 94499672 94499672 + Splice_Site SNP C C T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 9 94499672 94499672 C T SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known splice_site c.622+1 e5+1 1.000 - - - no_errors ROR2 HGNC ENSG00000169071 tier1 - - 106 0 0.00 83 45 35.16 87 0 0.00 56 26 31.71 CEACAM21 0 genome.wustl.edu 37 19 42085857 42085857 + Silent SNP G G A TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 19 42085857 42085857 G A SNP CEACAM21 ENST00000401445 human ensembl 74_37 +1 known silent c.576 p.L192 0.013 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM21 HGNC ENSG00000007129 tier1 - - 59 0 0.00 83 56 40.29 87 0 0.00 108 43 28.48 TMEM8B 0 genome.wustl.edu 37 9 35829952 35829952 + R SNP G G C TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 9 35829952 35829952 G C SNP TMEM8B ENST00000472010 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TMEM8B HGNC ENSG00000137103 tier1 - - 19 0 0.00 19 13 40.62 62 0 0.00 55 60 52.17 ATRX 0 genome.wustl.edu 37 X 76778881 76778883 + Splice_Site DEL TGT TGT - TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 TGT TGT TGT - TGT TGT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 X 76778881 76778883 TGT - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known splice_site_del c.6700-4_6700-2 e31-2 1.000:0.936:0.928 - - - no_errors ATRX HGNC ENSG00000085224 tier1 247 0 0.00 182 37 16.89 147 0 0.00 58 10 14.71 ANO7 0 genome.wustl.edu 37 2 242147068 242147068 + Missense_Mutation SNP G G A TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 2 242147068 242147068 G A SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.1222 p.A408T 0.854 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 tier1 rs137878201 - 114 0 0.00 7 104 92.86 47 0 0.00 3 33 91.67 CYP46A1 0 genome.wustl.edu 37 14 100173109 100173109 + Missense_Mutation SNP A A G TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 14 100173109 100173109 A G SNP CYP46A1 ENST00000261835 human ensembl 74_37 +1 known missense c.569 p.D190G 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP46A1 HGNC ENSG00000036530 tier1 - - 47 0 0.00 18 41 69.49 33 0 0.00 8 12 60.00 LMO7 0 genome.wustl.edu 37 13 76395653 76395653 + Nonsense_Mutation SNP A A T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 13 76395653 76395653 A T SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known nonsense c.2704 p.K902* 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 tier1 - - 95 0 0.00 8 27 77.14 121 0 0.00 7 44 86.27 NUP85 0 genome.wustl.edu 37 17 73228049 73228049 + Nonsense_Mutation SNP T T A TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 17 73228049 73228049 T A SNP NUP85 ENST00000245544 human ensembl 74_37 +1 known nonsense c.1371 p.C457* 0.996 pfam_Nucleoporin_Nup85 pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC ENSG00000125450 tier1 - - 41 0 0.00 25 66 72.53 27 0 0.00 5 26 83.87 SCRN3 0 genome.wustl.edu 37 2 175287648 175287648 + Nonsense_Mutation SNP C C T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 2 175287648 175287648 C T SNP SCRN3 ENST00000272732 human ensembl 74_37 +1 known nonsense c.790 p.R264* 1.000 NULL pfam_Peptidase_C69 - no_errors SCRN3 HGNC ENSG00000144306 tier1 - - 85 0 0.00 4 57 93.44 104 0 0.00 5 66 92.96 SEMA6C 0 genome.wustl.edu 37 1 151104667 151104667 + R SNP G G A TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 1 151104667 151104667 G A SNP SEMA6C ENST00000479820 human ensembl 74_37 -1 known rna NULL NULL 0.936 - - - no_errors SEMA6C HGNC ENSG00000143434 tier1 - - 11 0 0.00 16 5 23.81 11 0 0.00 9 4 30.77 TSSC2 0 genome.wustl.edu 37 11 3423884 3423884 + R SNP C C T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 11 3423884 3423884 C T SNP TSSC2 ENST00000529482 human ensembl 74_37 +1 known rna NULL NULL 0.441 - - - no_errors TSSC2 HGNC ENSG00000223756 tier1 - - 204 0 0.00 79 69 46.62 6 0 0.00 2 2 50.00 WDR11 0 genome.wustl.edu 37 10 122648750 122648751 + R INS - - TTTTGTTTTGTTTTG TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 - - - TTTTGTTTTGTTTTG - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 10 122648750 122648751 - TTTTGTTTTGTTTTG INS WDR11 ENST00000604509 human ensembl 74_37 +1 known rna NULL NULL 0.024:0.006 - - - no_errors WDR11 HGNC ENSG00000120008 tier1 7 0 0.00 6 3 33.33 7 0 0.00 6 3 33.33 PEG3 0 genome.wustl.edu 37 19 57328017 57328017 + Missense_Mutation SNP C C G TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 19 57328017 57328017 C G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.1793 p.R598P 0.011 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 103 0 0.00 178 16 8.25 121 0 0.00 187 14 6.93 ADNP2 0 genome.wustl.edu 37 18 77896692 77896692 + Silent SNP A A G TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 18 77896692 77896692 A G SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known silent c.3396 p.*1132 0.133 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 tier1 - - 36 0 0.00 148 17 10.30 54 0 0.00 270 24 8.16 DMBT1 0 genome.wustl.edu 37 10 124358313 124358313 + Missense_Mutation SNP A A T TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 10 124358313 124358313 A T SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.2980 p.R994W 0.964 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 tier1 - - 623 0 0.00 270 245 47.39 12 0 0.00 3 1 25.00 NKX2-5 0 genome.wustl.edu 37 5 172659906 172659908 + In_Frame_Del DEL GGC GGC - TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 5 172659906 172659908 GGC - DEL NKX2-5 ENST00000329198 human ensembl 74_37 -1 known in_frame_del c.641_639 p.P214in_frame_del 0.987:1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-5 HGNC ENSG00000183072 tier1 52 0 0.00 40 4 9.09 5 0 0.00 3 0 0.00 ENSG00000264299 0 genome.wustl.edu 37 11 125828487 125828488 + R INS - - G TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 11 125828487 125828488 - G INS ENSG00000264299 ENST00000582823 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.001 - - - no_errors RP11-680F20.12 Clone_based_vega_gene ENSG00000264299 tier1 42 0 0.00 28 3 9.68 0 0 0.00 0 0 0.00 PCSK5 0 genome.wustl.edu 37 9 78790212 78790212 + Silent SNP A A C TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 9 78790212 78790212 A C SNP PCSK5 ENST00000376767 human ensembl 74_37 +1 known silent c.2067 p.I689 0.000 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 tier1 rs62556620 - 9 0 0.00 4 7 63.64 0 0 0.00 0 0 0.00 FBN1 0 genome.wustl.edu 37 15 48752489 48752489 + Missense_Mutation SNP A A C TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 15 48752489 48752489 A C SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.5250 p.S1750R 0.992 superfamily_TB_dom,pirsf_FBN 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 - - 36 0 0.00 16 4 20.00 151 0 0.00 68 2 2.86 NUTM2F 0 genome.wustl.edu 37 9 97087709 97087709 + Missense_Mutation SNP G G C TCGA-IE-A6BZ-01A-11D-A307-09 TCGA-IE-A6BZ-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 201198d0-2d2c-4d33-9c31-f82d4daf7057 530f54b3-8d78-4d13-9b9d-17390fb27d29 9 97087709 97087709 G C SNP NUTM2F ENST00000253262 human ensembl 74_37 -1 known missense c.524 p.A175G 0.000 NULL NULL - no_errors NUTM2F HGNC ENSG00000130950 tier1 - - 565 0 0.00 588 54 8.39 11 0 0.00 23 2 8.00