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 HRNR 0 genome.wustl.edu 37 1 152188109 152188109 + Missense_Mutation SNP T T A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 1 152188109 152188109 T A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.5996 p.Q1999L 0.003 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 15 0 0 38 18 32.1429 BRINP2 0 genome.wustl.edu 37 1 177245464 177245464 + Silent SNP C C A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 1 177245464 177245464 C A SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known silent c.906 p.T302 0.391 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 52 0 0 40 10 20 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 267 0 0 111 31 21.831 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 322 0 0 92 59 39.0728 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 154 1 0.645161 47 35 42.6829 RBP3 0 genome.wustl.edu 37 10 48388390 48388390 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 10 48388390 48388390 C T SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.2488 p.A830T 0.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 33 0 0 22 3 12 TMEM254 0 genome.wustl.edu 37 10 81841911 81841911 + Missense_Mutation SNP G G T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 10 81841911 81841911 G T SNP TMEM254 ENST00000372281 human ensembl 74_37 +1 known missense c.202 p.A68S 1.000 NULL NULL - no_errors TMEM254 HGNC ENSG00000133678 225 1 0.442478 112 27 19.4245 TNKS1BP1 0 genome.wustl.edu 37 11 57077351 57077351 + Missense_Mutation SNP G G C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 11 57077351 57077351 G C SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.2834 p.A945G 0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 254 0 0 110 15 12 SERPING1 0 genome.wustl.edu 37 11 57381843 57381843 + Missense_Mutation SNP C C A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 11 57381843 57381843 C A SNP SERPING1 ENST00000278407 human ensembl 74_37 +1 known missense c.1292 p.T431K 0.985 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC ENSG00000149131 145 0 0 65 23 26.1364 TENM4 0 genome.wustl.edu 37 11 78413143 78413143 + Silent SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 11 78413143 78413143 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.4515 p.L1505 0.114 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 43 0 0 35 4 10.2564 ETNK1 0 genome.wustl.edu 37 12 22796905 22796905 + Missense_Mutation SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 12 22796905 22796905 T C SNP ETNK1 ENST00000266517 human ensembl 74_37 +1 known missense c.632 p.I211T 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors ETNK1 HGNC ENSG00000139163 151 0 0 78 21 21.2121 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 139 0 0 27 30 52.6316 ATF7 0 genome.wustl.edu 37 12 53918448 53918448 + Missense_Mutation SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 12 53918448 53918448 T C SNP ATF7 ENST00000328463 human ensembl 74_37 -1 known missense c.1058 p.N353S 1.000 pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_bZIP pfam_bZIP,smart_Znf_C2H2-like,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors ATF7 HGNC ENSG00000170653 104 0 0 33 11 25 IPO5 0 genome.wustl.edu 37 13 98652834 98652834 + Missense_Mutation SNP G G T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 13 98652834 98652834 G T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1097 p.C366F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 137 1 0.724638 34 32 48.4848 TMX1 0 genome.wustl.edu 37 14 51713861 51713861 + Silent SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 14 51713861 51713861 C T SNP TMX1 ENST00000457354 human ensembl 74_37 +1 known silent c.366 p.D122 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX1 HGNC ENSG00000139921 102 0 0 55 14 20.2899 DLST 0 genome.wustl.edu 37 14 75361090 75361090 + Missense_Mutation SNP A A G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 14 75361090 75361090 A G SNP DLST ENST00000334220 human ensembl 74_37 +1 known missense c.748 p.T250A 0.999 pfam_2-oxoacid_DH_actylTfrase,tigrfam_SucB pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_SucB - no_errors DLST HGNC ENSG00000119689 226 0 0 112 34 23.2877 SNHG14 0 genome.wustl.edu 37 15 25423731 25423731 + RNA SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 15 25423731 25423731 G A SNP SNHG14 ENST00000441592 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 38 0 0 36 8 18.1818 DENND4A 0 genome.wustl.edu 37 15 65989678 65989678 + Silent SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 15 65989678 65989678 T C SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known silent c.2874 p.E958 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 137 0 0 68 12 15 C15orf39 0 genome.wustl.edu 37 15 75498744 75498744 + Missense_Mutation SNP G G C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 15 75498744 75498744 G C SNP C15orf39 ENST00000360639 human ensembl 74_37 +1 known missense c.355 p.A119P 0.052 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 57 0 0 33 3 8.33333 ADAMTSL3 0 genome.wustl.edu 37 15 84611717 84611717 + Silent SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 15 84611717 84611717 G A SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.2373 p.T791 0.023 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 67 0 0 23 8 25.8065 SLC35B1 0 genome.wustl.edu 37 17 47783608 47783608 + Missense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 17 47783608 47783608 G A SNP SLC35B1 ENST00000507773 human ensembl 74_37 -1 known missense c.272 p.S91F 1.000 NULL pfam_UAA - no_errors SLC35B1 HGNC ENSG00000121073 105 0 0 31 12 27.907 TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58086360 58086360 + RNA SNP A A C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 17 58086360 58086360 A C SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 22 0 0 7 4 36.3636 SKOR2 0 genome.wustl.edu 37 18 44775267 44775267 + Silent SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 18 44775267 44775267 C T SNP SKOR2 ENST00000400404 human ensembl 74_37 -1 known silent c.288 p.P96 0.858 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR2 HGNC ENSG00000215474 18 0 0 5 3 37.5 CDC37 0 genome.wustl.edu 37 19 10506724 10506724 + Silent SNP G G C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 19 10506724 10506724 G C SNP CDC37 ENST00000222005 human ensembl 74_37 -1 known silent c.258 p.A86 0.182 pfam_Cdc37_N_dom pfam_Cdc37_Hsp90-bd,pfam_Cdc37_N_dom,pfam_Cdc37_C - no_errors CDC37 HGNC ENSG00000105401 279 1 0.357143 108 23 17.5573 ATP8B3 0 genome.wustl.edu 37 19 1785587 1785587 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 19 1785587 1785587 C T SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known missense c.3304 p.V1102I 0.931 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 78 0 0 34 3 8.10811 NPHS1 0 genome.wustl.edu 37 19 36330422 36330422 + Missense_Mutation SNP C C G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 19 36330422 36330422 C G SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.2903 p.G968A 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 230 1 0.4329 96 18 15.7895 ZNF567 0 genome.wustl.edu 37 19 37210533 37210533 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 19 37210533 37210533 C T SNP ZNF567 ENST00000536254 human ensembl 74_37 +1 known missense c.907 p.H303Y 1.000 pfam_Znf_C2H2,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 ZNF567 HGNC ENSG00000189042 76 0 0 51 5 8.92857 PSG3 0 genome.wustl.edu 37 19 43242982 43242982 + Silent SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 19 43242982 43242982 C T SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known silent c.324 p.L108 0.057 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 616 1 0.162075 326 93 22.1957 SLC8A2 0 genome.wustl.edu 37 19 47969473 47969473 + Missense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 19 47969473 47969473 G A SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.188 p.P63L 1.000 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 43 0 0 30 10 25 BIRC8 0 genome.wustl.edu 37 19 53793270 53793270 + Nonsense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 19 53793270 53793270 G A SNP BIRC8 ENST00000426466 human ensembl 74_37 -1 known nonsense c.358 p.R120* 0.047 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC8 HGNC ENSG00000163098 222 0 0 135 37 21.5116 ZSCAN5B 0 genome.wustl.edu 37 19 56704310 56704310 + Missense_Mutation SNP T T A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 19 56704310 56704310 T A SNP ZSCAN5B ENST00000358992 human ensembl 74_37 -1 known missense c.112 p.R38W 0.000 superfamily_Retrov_capsid_C pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 44 0 0 28 4 12.5 ZSCAN5B 0 genome.wustl.edu 37 19 56704314 56704314 + Silent SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 19 56704314 56704314 G A SNP ZSCAN5B ENST00000358992 human ensembl 74_37 -1 known silent c.108 p.H36 0.000 superfamily_Retrov_capsid_C pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 40 0 0 25 4 13.7931 ZNF470 0 genome.wustl.edu 37 19 57089694 57089694 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 19 57089694 57089694 C T SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known missense c.1897 p.R633C 0.000 pfam_Znf_C2H2,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 ZNF470 HGNC ENSG00000197016 77 0 0 53 6 10.1695 ZNF814 0 genome.wustl.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 19 58385546 58385546 G T SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1212 p.D404E 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 30 0 0 23 5 17.8571 BUB1 0 genome.wustl.edu 37 2 111419386 111419386 + Silent SNP G G T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 2 111419386 111419386 G T SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known silent c.990 p.G330 0.621 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 145 0 0 74 10 11.9048 TTN 0 genome.wustl.edu 37 2 179634421 179634421 + Missense_Mutation SNP T T G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 2 179634421 179634421 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.8887 p.T2963P 1.000 superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 109 0 0 35 52 59.7701 HS1BP3 0 genome.wustl.edu 37 2 20840801 20840801 + Missense_Mutation SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 2 20840801 20840801 T C SNP HS1BP3 ENST00000304031 human ensembl 74_37 -1 known missense c.338 p.N113S 0.982 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors HS1BP3 HGNC ENSG00000118960 285 0 0 116 30 20.5479 CXCR2 0 genome.wustl.edu 37 2 218999840 218999840 + Missense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 2 218999840 218999840 G A SNP CXCR2 ENST00000318507 human ensembl 74_37 +1 known missense c.316 p.A106T 0.122 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR2 HGNC ENSG00000180871 159 0 0 70 20 22.2222 STRN 0 genome.wustl.edu 37 2 37076928 37076928 + Missense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 2 37076928 37076928 G A SNP STRN ENST00000263918 human ensembl 74_37 -1 known missense c.2102 p.S701L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN HGNC ENSG00000115808 97 0 0 41 15 26.7857 C2orf78 0 genome.wustl.edu 37 2 74042710 74042710 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 2 74042710 74042710 C T SNP C2orf78 ENST00000409561 human ensembl 74_37 +1 novel missense c.1360 p.P454S 0.026 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 59 0 0 37 9 19.5652 ANKRD20A8P 0 genome.wustl.edu 37 2 95513820 95513820 + RNA SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 2 95513820 95513820 C T SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 819 1 0.121951 546 47 7.9258 ANKRD36 0 genome.wustl.edu 37 2 97877292 97877292 + Missense_Mutation SNP C C A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 2 97877292 97877292 C A SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known missense c.3377 p.P1126Q 0.007 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 25 0 0 16 3 15.7895 GDF5 0 genome.wustl.edu 37 20 34021881 34021881 + Silent SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 20 34021881 34021881 C T SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known silent c.1332 p.T444 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 66 0 0 31 17 35.4167 ATRN 0 genome.wustl.edu 37 20 3541448 3541448 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 20 3541448 3541448 C T SNP ATRN ENST00000262919 human ensembl 74_37 +1 known missense c.1343 p.S448F 1.000 NULL pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 65 0 0 62 16 20.5128 CLDN8 0 genome.wustl.edu 37 21 31587979 31587979 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 21 31587979 31587979 C T SNP CLDN8 ENST00000286809 human ensembl 74_37 -1 known missense c.265 p.V89M 0.428 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14 - no_errors CLDN8 HGNC ENSG00000156284 91 0 0 47 17 26.5625 APOBEC3H 0 genome.wustl.edu 37 22 39498015 39498015 + Missense_Mutation SNP C C G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 22 39498015 39498015 C G SNP APOBEC3H ENST00000442487 human ensembl 74_37 +1 known missense c.511 p.R171G 0.000 pfam_APOBEC_C pfam_APOBEC_N,pfam_APOBEC_C,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors APOBEC3H HGNC ENSG00000100298 117 1 0.847458 26 16 38.0952 PPP6R2 0 genome.wustl.edu 37 22 50878172 50878172 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 22 50878172 50878172 C T SNP PPP6R2 ENST00000216061 human ensembl 74_37 +1 known missense c.2171 p.T724M 0.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 37 0 0 11 4 26.6667 TFG 0 genome.wustl.edu 37 3 100463762 100463762 + Silent SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 3 100463762 100463762 T C SNP TFG ENST00000240851 human ensembl 74_37 +1 known silent c.807 p.G269 0.992 NULL pfam_OPR_PB1,smart_OPR_PB1 - no_errors TFG HGNC ENSG00000114354 110 0 0 75 19 20.2128 SOX14 0 genome.wustl.edu 37 3 137484052 137484052 + Silent SNP G G T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 3 137484052 137484052 G T SNP SOX14 ENST00000306087 human ensembl 74_37 +1 known silent c.426 p.A142 1.000 NULL pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX14 HGNC ENSG00000168875 38 0 0 12 5 29.4118 EHHADH 0 genome.wustl.edu 37 3 184966304 184966304 + Missense_Mutation SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 3 184966304 184966304 T C SNP EHHADH ENST00000231887 human ensembl 74_37 -1 known missense c.76 p.T26A 0.000 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC ENSG00000113790 121 0 0 55 28 33.7349 AZI2 0 genome.wustl.edu 37 3 28373891 28373891 + Missense_Mutation SNP T T A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 3 28373891 28373891 T A SNP AZI2 ENST00000479665 human ensembl 74_37 -1 known missense c.616 p.S206C 0.834 NULL NULL - no_errors AZI2 HGNC ENSG00000163512 61 0 0 40 12 23.0769 FYCO1 0 genome.wustl.edu 37 3 46009156 46009156 + Missense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 3 46009156 46009156 G A SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known missense c.1670 p.A557V 0.000 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 117 1 0.847458 30 13 30.2326 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 200 0 0 30 16 34.7826 SNTN 0 genome.wustl.edu 37 3 63649696 63649696 + Silent SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 3 63649696 63649696 C T SNP SNTN ENST00000343837 human ensembl 74_37 +1 known silent c.369 p.F123 0.998 NULL NULL - no_errors SNTN HGNC ENSG00000188817 58 0 0 52 4 7.14286 ATXN7 0 genome.wustl.edu 37 3 63898494 63898494 + Missense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 3 63898494 63898494 G A SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known missense c.220 p.A74T 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 58 0 0 22 2 8.33333 ROBO2 0 genome.wustl.edu 37 3 77526676 77526676 + Nonsense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 3 77526676 77526676 G A SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known nonsense c.500 p.W167* 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 117 0 0 88 18 16.9811 C4orf33 0 genome.wustl.edu 37 4 130030829 130030829 + Splice_Site SNP T T G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 4 130030829 130030829 T G SNP C4orf33 ENST00000281146 human ensembl 74_37 +1 known splice_site c.494+2 e4+2 1.000 - - - no_errors C4orf33 HGNC ENSG00000151470 44 0 0 21 6 22.2222 TTC29 0 genome.wustl.edu 37 4 147724798 147724798 + Missense_Mutation SNP A A T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 4 147724798 147724798 A T SNP TTC29 ENST00000398886 human ensembl 74_37 -1 known missense c.1219 p.F407I 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC29 HGNC ENSG00000137473 18 0 0 6 3 33.3333 KLB 0 genome.wustl.edu 37 4 39448529 39448529 + Missense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 4 39448529 39448529 G A SNP KLB ENST00000257408 human ensembl 74_37 +1 known missense c.2183 p.R728Q 0.010 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 105 0 0 31 5 13.8889 TXK 0 genome.wustl.edu 37 4 48116415 48116415 + Silent SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 4 48116415 48116415 G A SNP TXK ENST00000264316 human ensembl 74_37 -1 known silent c.21 p.N7 0.970 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC ENSG00000074966 80 0 0 26 17 39.5349 EVC2 0 genome.wustl.edu 37 4 5578019 5578019 + Missense_Mutation SNP G G C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 4 5578019 5578019 G C SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.3220 p.L1074V 0.745 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 129 0 0 44 20 31.25 MEGF10 0 genome.wustl.edu 37 5 126732427 126732427 + Missense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 5 126732427 126732427 G A SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.616 p.V206I 0.074 pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 101 1 0.980392 56 18 24.3243 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 196 0 0 47 32 40.5063 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 200 0 0 43 44 50.5747 BCLAF1 0 genome.wustl.edu 37 6 136594263 136594263 + Missense_Mutation SNP T T A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 6 136594263 136594263 T A SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.1915 p.T639S 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 313 0 0 170 13 7.10383 CDSN 0 genome.wustl.edu 37 6 31084714 31084714 + Silent SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 6 31084714 31084714 G A SNP CDSN ENST00000376288 human ensembl 74_37 -1 known silent c.678 p.P226 0.991 NULL NULL - no_errors CDSN HGNC ENSG00000204539 131 0 0 51 4 7.27273 ZAN 0 genome.wustl.edu 37 7 100350373 100350373 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 7 100350373 100350373 C T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.2645 p.T882M 0.062 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 357 1 0.27933 88 22 20 KCND2 0 genome.wustl.edu 37 7 119914783 119914783 + Missense_Mutation SNP C C G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 7 119914783 119914783 C G SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.97 p.Q33E 1.000 prints_K_chnl_volt-dep_Kv4.2 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 332 0 0 180 43 19.2825 CNOT4 0 genome.wustl.edu 37 7 135079154 135079154 + Silent SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 7 135079154 135079154 T C SNP CNOT4 ENST00000541284 human ensembl 74_37 -1 known silent c.1143 p.V381 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 130 0 0 80 22 21.5686 INTS1 0 genome.wustl.edu 37 7 1535799 1535799 + Silent SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 7 1535799 1535799 T C SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.2088 p.E696 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 83 0 0 22 6 21.4286 ZNF733P 0 genome.wustl.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 7 62752443 62752443 G C SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC ENSG00000185037 19 0 0 18 4 18.1818 RP1 0 genome.wustl.edu 37 8 55542840 55542840 + Missense_Mutation SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 8 55542840 55542840 T C SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.6398 p.L2133P 0.366 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 54 0 0 58 5 7.93651 ABCA1 0 genome.wustl.edu 37 9 107571749 107571749 + Silent SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 9 107571749 107571749 G A SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known silent c.4272 p.I1424 0.998 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 57 0 0 15 11 42.3077 ZNF157 0 genome.wustl.edu 37 X 47272403 47272403 + Missense_Mutation SNP T T A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 X 47272403 47272403 T A SNP ZNF157 ENST00000377073 human ensembl 74_37 +1 known missense c.931 p.F311I 0.315 pfam_Znf_C2H2,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 ZNF157 HGNC ENSG00000147117 23 0 0 8 5 38.4615 ATP1A1 0 genome.wustl.edu 37 1 116930017 116930018 + Frame_Shift_Ins INS - - G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 1 116930017 116930018 - G INS ATP1A1 ENST00000295598 human ensembl 74_37 +1 known frame_shift_ins c.291_292 p.F99fs 0.994:1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 170 0 0 59 17 22.3684 LOC101929540 0 genome.wustl.edu 37 1 700514 700514 + RNA DEL A A - TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 1 700514 700514 A - DEL LOC101929540 ENST00000428504 human ensembl 74_37 -1 known rna NULL NULL 0.180 - - - no_errors RP11-206L10.2 Clone_based_vega_gene ENSG00000228327 17 0 0 9 3 25 LOC441666 0 genome.wustl.edu 37 10 42833133 42833135 + RNA DEL ATT ATT - TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 ATT ATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 10 42833133 42833135 ATT - DEL LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 0.966:0.250:0.047 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 8 0 0 2 5 71.4286 CIC 0 genome.wustl.edu 37 19 42791342 42791346 + Frame_Shift_Del DEL CCCAG CCCAG - TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 CCCAG CCCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 19 42791342 42791346 CCCAG - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.402_406 p.P135fs 0.177:0.727:0.965:0.971:1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 61 0 0 21 7 25 ENSG00000232675 0 genome.wustl.edu 37 20 19673862 19673863 + RNA INS - - T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 20 19673862 19673863 - T INS ENSG00000232675 ENST00000435992 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP4-718D20.3 Clone_based_vega_gene ENSG00000232675 36 0 0 20 3 13.0435 NACAP1 0 genome.wustl.edu 37 8 102381882 102381883 + RNA INS - - A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 8 102381882 102381883 - A INS NACAP1 ENST00000419462 human ensembl 74_37 +1 known rna NULL NULL 0.836:0.879 - - - no_errors NACAP1 HGNC ENSG00000228224 23 0 0 26 2 7.14286 ENSG00000228532 0 genome.wustl.edu 37 X 114953493 114953494 + Frame_Shift_Ins INS - - T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 X 114953493 114953494 - T INS ENSG00000228532 ENST00000449327 human ensembl 74_37 -1 novel frame_shift_ins c.57_56 p.N19fs 1.000:1.000 pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors RP1-241P17.4 Clone_based_vega_gene ENSG00000228532 70 0 0 23 24 51.0638 KDM5C 0 genome.wustl.edu 37 X 53228037 53228038 + Frame_Shift_Ins INS - - A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 X 53228037 53228038 - A INS KDM5C ENST00000375401 human ensembl 74_37 -1 known frame_shift_ins c.2277_2276 p.M759fs 1.000:1.000 pfam_Znf_C5HC2 pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 61 0 0 31 24 43.6364 FAM155B 0 genome.wustl.edu 37 X 68725672 68725672 + Frame_Shift_Del DEL A A - TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 X 68725672 68725672 A - DEL FAM155B ENST00000252338 human ensembl 74_37 +1 known frame_shift_del c.547 p.N185fs 0.996 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 57 0 0 26 3 10.3448