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 LRP1B 0 genome.wustl.edu 37 2 141298623 141298623 + Missense_Mutation SNP A A T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 2 141298623 141298623 A T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.7432 p.L2478M 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 68 0 0.00 41 13 24.07 99 0 0.00 62 8 11.43 ZNF180 0 genome.wustl.edu 37 19 44981660 44981660 + Missense_Mutation SNP A A C TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 19 44981660 44981660 A C SNP ZNF180 ENST00000221327 human ensembl 74_37 -1 known missense c.1038 p.N346K 0.534 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 ZNF180 HGNC ENSG00000167384 tier1 - - 44 0 0.00 47 12 20.34 62 0 0.00 54 14 20.59 IL10RA 0 genome.wustl.edu 37 11 117864124 117864124 + Missense_Mutation SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 11 117864124 117864124 C T SNP IL10RA ENST00000227752 human ensembl 74_37 +1 known missense c.536 p.T179M 0.006 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL10RA HGNC ENSG00000110324 tier1 - - 26 0 0.00 7 16 69.57 113 0 0.00 20 46 69.70 COL6A4P1 0 genome.wustl.edu 37 3 15219382 15219382 + R SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 3 15219382 15219382 C T SNP COL6A4P1 ENST00000446690 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors COL6A4P1 HGNC ENSG00000230524 tier1 - - 42 0 0.00 32 16 33.33 61 0 0.00 33 33 50.00 TTYH1 0 genome.wustl.edu 37 19 54940506 54940506 + Silent SNP G G A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 19 54940506 54940506 G A SNP TTYH1 ENST00000376531 human ensembl 74_37 +1 known silent c.756 p.L252 1.000 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC ENSG00000167614 tier1 - - 113 1 0.88 85 56 39.44 79 0 0.00 43 30 41.10 KCNK10 0 genome.wustl.edu 37 14 88652381 88652381 + Missense_Mutation SNP A A G TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 14 88652381 88652381 A G SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.1130 p.I377T 1.000 prints_2pore_dom_K_chnl_TREK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 tier1 - - 49 0 0.00 51 16 23.88 8 0 0.00 12 2 14.29 CAC1H 0 genome.wustl.edu 37 16 1265078 1265078 + Missense_Mutation SNP A A G TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 16 1265078 1265078 A G SNP CAC1H ENST00000348261 human ensembl 74_37 +1 known missense c.5036 p.D1679G 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CAC1H HGNC ENSG00000196557 tier1 - - 79 0 0.00 85 32 27.35 70 0 0.00 84 33 28.21 DBNL 0 genome.wustl.edu 37 7 44089997 44089997 + R SNP G G T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 7 44089997 44089997 G T SNP DBNL ENST00000497184 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DBNL HGNC ENSG00000136279 tier1 - - 23 0 0.00 21 6 21.43 65 0 0.00 84 15 15.15 GRHPR 0 genome.wustl.edu 37 9 37430673 37430673 + Missense_Mutation SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 9 37430673 37430673 C T SNP GRHPR ENST00000494290 human ensembl 74_37 +1 known missense c.335 p.P112L 0.017 NULL pfam_D-isomer_2_OHA_DH_D-bd - no_errors GRHPR HGNC ENSG00000137106 tier1 - - 81 0 0.00 67 44 39.29 108 0 0.00 69 39 36.11 CSMD1 0 genome.wustl.edu 37 8 4494979 4494979 + Missense_Mutation SNP T T C TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 8 4494979 4494979 T C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.187 p.I63V 0.277 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 39 0 0.00 32 12 27.27 111 0 0.00 55 40 41.67 CRB1 0 genome.wustl.edu 37 1 197396672 197396672 + Silent SNP C C A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 1 197396672 197396672 C A SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known silent c.2217 p.L739 0.727 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 - - 43 0 0.00 35 27 43.55 84 0 0.00 55 41 42.71 CYP1A2 0 genome.wustl.edu 37 15 75042751 75042751 + Missense_Mutation SNP T T A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 15 75042751 75042751 T A SNP CYP1A2 ENST00000343932 human ensembl 74_37 +1 known missense c.672 p.H224Q 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A2 HGNC ENSG00000140505 tier1 - - 41 0 0.00 40 13 24.53 86 0 0.00 45 31 40.79 CYP11B1 0 genome.wustl.edu 37 8 143956671 143956671 + Silent SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 8 143956671 143956671 C T SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known silent c.1179 p.Q393 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 tier1 - - 72 0 0.00 90 12 11.76 38 0 0.00 29 5 14.71 COMP 0 genome.wustl.edu 37 19 18895797 18895797 + Missense_Mutation SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 19 18895797 18895797 C T SNP COMP ENST00000222271 human ensembl 74_37 -1 known missense c.1823 p.S608N 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 tier1 - - 88 0 0.00 59 58 49.15 52 0 0.00 49 62 55.86 ULK3 0 genome.wustl.edu 37 15 75130779 75130779 + Splice_Site SNP A A G TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 15 75130779 75130779 A G SNP ULK3 ENST00000440863 human ensembl 74_37 -1 known splice_site c.1167+2 e11+2 0.995 - - - no_errors ULK3 HGNC ENSG00000140474 tier1 - - 48 0 0.00 53 32 37.65 38 0 0.00 23 15 37.50 OR4D5 0 genome.wustl.edu 37 11 123810992 123810992 + Silent SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 11 123810992 123810992 C T SNP OR4D5 ENST00000307033 human ensembl 74_37 +1 known silent c.669 p.V223 0.280 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 tier1 - - 62 0 0.00 25 10 28.57 80 0 0.00 41 14 25.45 FRAS1 0 genome.wustl.edu 37 4 79403057 79403057 + Missense_Mutation SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 4 79403057 79403057 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.8543 p.P2848L 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 64 0 0.00 29 48 62.34 84 0 0.00 57 58 50.43 KRT37 0 genome.wustl.edu 37 17 39577807 39577807 + Silent SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 17 39577807 39577807 C T SNP KRT37 ENST00000225550 human ensembl 74_37 -1 known silent c.1053 p.A351 0.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT37 HGNC ENSG00000108417 tier1 rs138622207 - 64 0 0.00 37 27 42.19 14 0 0.00 18 15 45.45 LPA 0 genome.wustl.edu 37 6 161010662 161010662 + Silent SNP A A T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 6 161010662 161010662 A T SNP LPA ENST00000316300 human ensembl 74_37 -1 known silent c.3870 p.V1290 0.288 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 tier1 - - 93 0 0.00 126 57 31.15 25 0 0.00 21 13 38.24 ENSG00000230333 0 genome.wustl.edu 37 7 11418974 11418974 + R SNP T T A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 7 11418974 11418974 T A SNP ENSG00000230333 ENST00000421121 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC004538.3 Clone_based_vega_gene ENSG00000230333 tier1 - - 32 0 0.00 11 17 60.71 98 0 0.00 56 48 46.15 MYPN 0 genome.wustl.edu 37 10 69881497 69881497 + Missense_Mutation SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 10 69881497 69881497 C T SNP MYPN ENST00000358913 human ensembl 74_37 +1 known missense c.302 p.S101F 0.998 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 tier1 - - 57 0 0.00 14 20 58.82 127 0 0.00 54 34 38.64 HS3ST5 0 genome.wustl.edu 37 6 114383953 114383953 + Silent SNP A A T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 6 114383953 114383953 A T SNP HS3ST5 ENST00000312719 human ensembl 74_37 -1 known silent c.57 p.L19 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST5 HGNC ENSG00000249853 tier1 - - 50 0 0.00 50 30 37.50 63 0 0.00 54 29 34.94 BOD1L1 0 genome.wustl.edu 37 4 13588097 13588097 + Missense_Mutation SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 4 13588097 13588097 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.8356 p.D2786N 0.991 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 51 0 0.00 44 28 38.89 66 0 0.00 61 23 27.38 ARPP21 0 genome.wustl.edu 37 3 35835202 35835202 + Missense_Mutation SNP A A T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 3 35835202 35835202 A T SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.2194 p.T732S 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 tier1 - - 106 0 0.00 88 43 32.33 112 0 0.00 93 51 35.42 TCHHL1 0 genome.wustl.edu 37 1 152057569 152057569 + Silent SNP A A G TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 1 152057569 152057569 A G SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known silent c.2589 p.L863 0.002 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 tier1 - - 126 0 0.00 87 38 30.40 94 0 0.00 63 26 29.21 HHLA1 0 genome.wustl.edu 37 8 133100132 133100132 + Missense_Mutation SNP T T A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 8 133100132 133100132 T A SNP HHLA1 ENST00000414222 human ensembl 74_37 -1 known missense c.549 p.E183D 0.638 NULL NULL - no_errors HHLA1 HGNC ENSG00000132297 tier1 - - 56 0 0.00 34 22 39.29 65 0 0.00 49 31 38.75 CTBP1-AS2 0 genome.wustl.edu 37 4 1246223 1246223 + R SNP A A T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 4 1246223 1246223 A T SNP CTBP1-AS2 ENST00000581398 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTBP1-AS2 HGNC ENSG00000196810 tier1 - - 48 0 0.00 24 15 38.46 41 0 0.00 21 21 50.00 OR1S2 0 genome.wustl.edu 37 11 57971513 57971513 + Missense_Mutation SNP C C G TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 11 57971513 57971513 C G SNP OR1S2 ENST00000302592 human ensembl 74_37 -1 known missense c.141 p.M47I 0.997 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S2 HGNC ENSG00000197887 tier1 - - 103 0 0.00 97 15 13.39 122 0 0.00 108 15 12.10 IL36B 0 genome.wustl.edu 37 2 113786528 113786528 + Silent SNP A A G TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 2 113786528 113786528 A G SNP IL36B ENST00000259213 human ensembl 74_37 -1 known silent c.249 p.T83 0.001 superfamily_Cytokine_IL1-like superfamily_Cytokine_IL1-like - no_errors IL36B HGNC ENSG00000136696 tier1 - - 73 0 0.00 39 44 53.01 98 0 0.00 56 46 45.10 ENSG00000187695 0 genome.wustl.edu 37 3 128664475 128664475 + Missense_Mutation SNP G G A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 3 128664475 128664475 G A SNP ENSG00000187695 ENST00000508239 human ensembl 74_37 -1 known missense c.335 p.A112V 0.979 NULL NULL - no_errors RP11-723O4.6 Clone_based_vega_gene ENSG00000187695 tier1 - - 37 0 0.00 23 12 34.29 108 0 0.00 76 30 28.30 MASP2 0 genome.wustl.edu 37 1 11087529 11087529 + Missense_Mutation SNP C C A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 1 11087529 11087529 C A SNP MASP2 ENST00000400897 human ensembl 74_37 -1 known missense c.1474 p.A492S 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_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MASP2 HGNC ENSG00000009724 tier1 - - 81 0 0.00 64 31 32.63 62 0 0.00 57 40 41.24 DJC8 0 genome.wustl.edu 37 1 28534923 28534923 + Missense_Mutation SNP A A C TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 1 28534923 28534923 A C SNP DJC8 ENST00000263697 human ensembl 74_37 -1 known missense c.401 p.V134G 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DJC8 HGNC ENSG00000126698 tier1 - - 52 0 0.00 32 18 36.00 74 0 0.00 75 24 24.00 ENSG00000257057 0 genome.wustl.edu 37 11 94265072 94265072 + R SNP A A T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 11 94265072 94265072 A T SNP ENSG00000257057 ENST00000542198 human ensembl 74_37 +1 known rna NULL NULL 0.790 - - - no_errors RP11-867G2.2 Clone_based_vega_gene ENSG00000257057 tier1 - - 52 0 0.00 28 22 44.00 73 1 1.35 62 22 26.19 ZCCHC3 0 genome.wustl.edu 37 20 279424 279424 + Silent SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 20 279424 279424 C T SNP ZCCHC3 ENST00000382352 human ensembl 74_37 +1 known silent c.1197 p.T399 0.926 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC3 HGNC ENSG00000177764 tier1 - - 27 0 0.00 18 19 51.35 59 0 0.00 35 50 58.82 FRMD4B 0 genome.wustl.edu 37 3 69299250 69299250 + Missense_Mutation SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 3 69299250 69299250 C T SNP FRMD4B ENST00000398540 human ensembl 74_37 -1 known missense c.502 p.G168R 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 tier1 - - 99 0 0.00 74 24 24.49 115 0 0.00 89 56 38.62 TTN 0 genome.wustl.edu 37 2 179451905 179451905 + Missense_Mutation SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 2 179451905 179451905 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.56329 p.E18777K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 60 0 0.00 42 10 19.23 141 0 0.00 94 17 15.32 OR8A1 0 genome.wustl.edu 37 11 124440623 124440623 + Missense_Mutation SNP G G C TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 11 124440623 124440623 G C SNP OR8A1 ENST00000284287 human ensembl 74_37 +1 known missense c.659 p.G220A 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8A1 HGNC ENSG00000196119 tier1 - - 50 0 0.00 14 17 54.84 71 0 0.00 15 21 58.33 EPHA7 0 genome.wustl.edu 37 6 93964481 93964481 + Missense_Mutation SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 6 93964481 93964481 C T SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.2416 p.E806K 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 37 0 0.00 35 12 25.53 104 0 0.00 94 32 25.40 LOC285556 0 genome.wustl.edu 37 4 100572534 100572534 + Missense_Mutation SNP T T G TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 4 100572534 100572534 T G SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative missense c.3272 p.D1091A 0.997 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 66 0 0.00 49 31 38.75 88 0 0.00 48 33 40.74 FAM129A 0 genome.wustl.edu 37 1 184859248 184859248 + Missense_Mutation SNP G G A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 1 184859248 184859248 G A SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.427 p.P143S 1.000 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 tier1 - - 47 0 0.00 19 17 47.22 54 1 1.82 36 24 40.00 SRRT 0 genome.wustl.edu 37 7 100478923 100478923 + Missense_Mutation SNP G G A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 7 100478923 100478923 G A SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.140 p.R47H 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 tier1 - - 61 0 0.00 35 23 39.66 52 0 0.00 45 24 34.78 PRDM10 0 genome.wustl.edu 37 11 129785666 129785666 + Silent SNP G G A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 11 129785666 129785666 G A SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known silent c.2427 p.P809 0.479 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 tier1 rs145915939 - 69 0 0.00 8 29 76.32 36 0 0.00 10 11 50.00 FAM129A 0 genome.wustl.edu 37 1 184859249 184859249 + Missense_Mutation SNP G G C TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 1 184859249 184859249 G C SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.426 p.D142E 1.000 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 tier1 - - 47 0 0.00 19 18 48.65 54 0 0.00 35 24 40.68 GALNTL6 0 genome.wustl.edu 37 4 173873290 173873290 + Missense_Mutation SNP C C A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 4 173873290 173873290 C A SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known missense c.1252 p.Q418K 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 tier1 - - 145 0 0.00 111 52 31.90 40 0 0.00 38 16 29.63 CHR9 0 genome.wustl.edu 37 4 40339266 40339266 + Missense_Mutation SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 4 40339266 40339266 C T SNP CHR9 ENST00000310169 human ensembl 74_37 +1 known missense c.250 p.R84C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHR9 HGNC ENSG00000174343 tier1 - - 43 0 0.00 26 22 45.83 90 0 0.00 44 26 37.14 BRINP2 0 genome.wustl.edu 37 1 177249986 177249986 + Missense_Mutation SNP G G C TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 1 177249986 177249986 G C SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known missense c.1674 p.K558N 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 tier1 - - 36 0 0.00 14 24 63.16 67 0 0.00 58 41 41.41 GRID2IP 0 genome.wustl.edu 37 7 6541514 6541514 + Silent SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 7 6541514 6541514 C T SNP GRID2IP ENST00000457091 human ensembl 74_37 -1 putative silent c.3297 p.L1099 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 tier1 - - 36 0 0.00 31 15 32.61 70 0 0.00 45 29 39.19 SLC18A2 0 genome.wustl.edu 37 10 119013728 119013728 + R SNP G G T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 10 119013728 119013728 G T SNP SLC18A2 ENST00000497497 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors SLC18A2 HGNC ENSG00000165646 tier1 - - 39 0 0.00 14 15 51.72 146 0 0.00 48 50 51.02 SPIC 0 genome.wustl.edu 37 12 101880268 101880268 + Missense_Mutation SNP A A G TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 12 101880268 101880268 A G SNP SPIC ENST00000299272 human ensembl 74_37 +1 known missense c.466 p.K156E 0.385 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPIC HGNC ENSG00000166211 tier1 - - 42 0 0.00 37 12 24.49 38 0 0.00 54 24 30.77 CAMSAP1 0 genome.wustl.edu 37 9 138714789 138714789 + Missense_Mutation SNP G G A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 9 138714789 138714789 G A SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.1751 p.A584V 0.479 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 tier1 - - 43 0 0.00 55 9 14.06 67 0 0.00 69 10 12.50 AFAP1L2 0 genome.wustl.edu 37 10 116062144 116062144 + Missense_Mutation SNP C C A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 10 116062144 116062144 C A SNP AFAP1L2 ENST00000545353 human ensembl 74_37 -1 known missense c.1543 p.A515S 0.992 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L2 HGNC ENSG00000169129 tier1 - - 27 0 0.00 6 12 66.67 116 0 0.00 32 61 64.89 HPSE2 0 genome.wustl.edu 37 10 100481499 100481499 + Nonsense_Mutation SNP G G A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 10 100481499 100481499 G A SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known nonsense c.871 p.Q291* 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 tier1 - - 65 0 0.00 47 6 11.32 92 0 0.00 60 7 10.45 SCAND3 0 genome.wustl.edu 37 6 28542992 28542992 + Missense_Mutation SNP T T G TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 6 28542992 28542992 T G SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.1490 p.E497A 0.983 superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 tier1 - - 22 0 0.00 18 11 37.93 115 0 0.00 69 68 49.64 ACSS2 0 genome.wustl.edu 37 20 33501958 33501958 + Nonsense_Mutation SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 20 33501958 33501958 C T SNP ACSS2 ENST00000253382 human ensembl 74_37 +1 known nonsense c.703 p.Q235* 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS2 HGNC ENSG00000131069 tier1 - - 42 0 0.00 30 19 38.78 119 0 0.00 63 61 49.19 SGOL2 0 genome.wustl.edu 37 2 201435917 201435917 + Missense_Mutation SNP A A G TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 2 201435917 201435917 A G SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known missense c.848 p.N283S 0.000 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 tier1 - - 25 0 0.00 22 7 24.14 95 0 0.00 66 10 13.16 CEACAM5 0 genome.wustl.edu 37 19 42224051 42224051 + Silent SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 19 42224051 42224051 C T SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known silent c.1695 p.D565 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 tier1 - - 144 0 0.00 88 119 57.49 33 0 0.00 34 26 43.33 TPH2 0 genome.wustl.edu 37 12 72425339 72425339 + Missense_Mutation SNP A A G TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 12 72425339 72425339 A G SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known missense c.1337 p.Y446C 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 tier1 - - 79 0 0.00 52 22 29.33 135 0 0.00 99 46 31.72 ARHGAP18 0 genome.wustl.edu 37 6 129939838 129939838 + Frame_Shift_Del DEL T T - TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 6 129939838 129939838 T - DEL ARHGAP18 ENST00000368149 human ensembl 74_37 -1 known frame_shift_del c.946 p.T316fs 0.997 superfamily_Rho_GTPase_activation_prot pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 tier1 108 0 0.00 76 66 46.48 108 0 0.00 87 49 36.03 PALD1 0 genome.wustl.edu 37 10 72291112 72291113 + Frame_Shift_Ins INS - - C TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 10 72291112 72291113 - C INS PALD1 ENST00000263563 human ensembl 74_37 +1 known frame_shift_ins c.535_536 p.Y180fs 1.000:1.000 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 tier1 105 0 0.00 29 51 63.75 38 0 0.00 13 22 62.86 HERC1 0 genome.wustl.edu 37 15 63958195 63958199 + Frame_Shift_Del DEL ATTTG ATTTG - TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 ATTTG ATTTG ATTTG - ATTTG ATTTG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 15 63958195 63958199 ATTTG - DEL HERC1 ENST00000443617 human ensembl 74_37 -1 known frame_shift_del c.8478_8474 p.S2825fs 0.652:0.646:0.643:0.586:1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 68 0 0.00 40 24 37.50 68 0 0.00 40 24 37.50 ARF1 0 genome.wustl.edu 37 1 228286501 228286501 + R SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 1 228286501 228286501 C T SNP ARF1 ENST00000477821 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ARF1 HGNC ENSG00000143761 tier1 - - 73 0 0.00 40 31 43.66 24 0 0.00 7 7 50.00 DCHS2 0 genome.wustl.edu 37 4 155244445 155244445 + Missense_Mutation SNP C C A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 4 155244445 155244445 C A SNP DCHS2 ENST00000339452 human ensembl 74_37 -1 known missense c.4055 p.G1352V 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 48 0 0.00 28 20 41.67 8 0 0.00 3 5 62.50 PRB3 0 genome.wustl.edu 37 12 11420653 11420653 + Missense_Mutation SNP G G A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 12 11420653 11420653 G A SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known missense c.530 p.P177L 0.000 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 tier1 - - 92 0 0.00 55 26 32.10 19 0 0.00 5 2 25.00 SLC7A4 0 genome.wustl.edu 37 22 21385529 21385529 + Silent SNP G G C TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 22 21385529 21385529 G C SNP SLC7A4 ENST00000382932 human ensembl 74_37 -1 known silent c.573 p.S191 0.957 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 tier1 - - 34 0 0.00 5 39 88.64 26 0 0.00 0 18 100.00 SNX13 0 genome.wustl.edu 37 7 17861150 17861150 + Silent SNP G G A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 7 17861150 17861150 G A SNP SNX13 ENST00000428135 human ensembl 74_37 -1 known silent c.1827 p.H609 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX13 HGNC ENSG00000071189 tier1 - - 77 0 0.00 96 11 10.28 108 0 0.00 110 6 5.17 ECT2 0 genome.wustl.edu 37 3 172480561 172480561 + Missense_Mutation SNP G G C TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 3 172480561 172480561 G C SNP ECT2 ENST00000427830 human ensembl 74_37 +1 known missense c.877 p.E293Q 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 tier1 - - 55 0 0.00 55 7 11.29 140 0 0.00 117 9 7.14 OC90 0 genome.wustl.edu 37 8 133051332 133051332 + Missense_Mutation SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 8 133051332 133051332 C T SNP OC90 ENST00000443356 human ensembl 74_37 -1 known missense c.496 p.D166N 1.000 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors OC90 Uniprot_gn ENSG00000258417 tier1 - - 42 0 0.00 60 6 9.09 72 0 0.00 106 4 3.64 CEP44 0 genome.wustl.edu 37 4 175225412 175225412 + Silent SNP A A G TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 4 175225412 175225412 A G SNP CEP44 ENST00000426172 human ensembl 74_37 +1 known silent c.399 p.Q133 0.982 NULL NULL - no_errors CEP44 HGNC ENSG00000164118 tier1 - - 41 0 0.00 44 6 12.00 59 0 0.00 79 5 5.95 MAPK15 0 genome.wustl.edu 37 8 144803216 144803216 + Frame_Shift_Del DEL C C - TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 8 144803216 144803216 C - DEL MAPK15 ENST00000338033 human ensembl 74_37 +1 known frame_shift_del c.964 p.R323fs 0.223 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPK15 HGNC ENSG00000181085 tier1 15 0 0.00 10 2 16.67 14 0 0.00 9 0 0.00 BCR 0 genome.wustl.edu 37 22 23659864 23659864 + R SNP C C T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 22 23659864 23659864 C T SNP BCR ENST00000436990 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BCR HGNC ENSG00000186716 tier1 rs202061168 - 23 0 0.00 8 3 27.27 0 0 0.00 0 0 0.00 CYP21A2 0 genome.wustl.edu 37 6 32008845 32008845 + Missense_Mutation SNP G G A TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 6 32008845 32008845 G A SNP CYP21A2 ENST00000418967 human ensembl 74_37 +1 known missense c.1422 p.M474I 0.000 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,prints_Cyt_P450_B - no_errors CYP21A2 HGNC ENSG00000231852 tier1 - - 32 0 0.00 36 4 10.00 4 0 0.00 1 0 0.00 ENSG00000272231 0 genome.wustl.edu 37 12 74293692 74293701 + R DEL ATACACATAC ATACACATAC - TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 ATACACATAC ATACACATAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 12 74293692 74293701 ATACACATAC - DEL ENSG00000272231 ENST00000606199 human ensembl 74_37 +1 novel rna NULL NULL 0.002:0.002:0.002:0.002:0.004:0.007:0.009:0.010:0.011:0.011 - - - no_errors AC136188.1 Clone_based_ensembl_gene ENSG00000272231 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 SCN4B 0 genome.wustl.edu 37 11 118006807 118006808 + R INS - - GGGGGAGAAGC TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 11 118006807 118006808 - GGGGGAGAAGC INS SCN4B ENST00000423160 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors SCN4B HGNC ENSG00000177098 tier1 4 0 0.00 5 0 0.00 4 0 0.00 5 0 0.00 CLEC18B 0 genome.wustl.edu 37 16 74446949 74446949 + Missense_Mutation SNP G G T TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 16 74446949 74446949 G T SNP CLEC18B ENST00000339953 human ensembl 74_37 -1 known missense c.662 p.A221E 0.729 NULL pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18B HGNC ENSG00000140839 tier1 - - 122 0 0.00 76 13 14.61 59 0 0.00 47 3 5.88 ANKRD30BL 0 genome.wustl.edu 37 2 132912272 132912272 + Missense_Mutation SNP T T G TCGA-DX-A3U9-01A-11D-A307-09 TCGA-DX-A3U9-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 757e3c75-8782-4f76-89b7-c2736223db4d c8fc1be9-0d23-4f7b-8759-d4076ab6651d 2 132912272 132912272 T G SNP ANKRD30BL ENST00000295181 human ensembl 74_37 -1 known missense c.577 p.K193Q 0.042 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD30BL HGNC ENSG00000163046 tier1 - - 83 0 0.00 62 10 13.89 47 0 0.00 31 2 6.06