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 C1orf127 0 genome.wustl.edu 37 1 11008159 11008159 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 11008159 11008159 C T SNP C1orf127 ENST00000377004 human ensembl 74_37 -1 known missense c.2033 p.S678N 0.002 NULL superfamily_DNA-bd_dom_put - no_errors C1orf127 HGNC ENSG00000175262 113 0 0 103 22 17.6 SPAG17 0 genome.wustl.edu 37 1 118640394 118640394 + Missense_Mutation SNP T T A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 118640394 118640394 T A SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.910 p.N304Y 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 97 0 0 54 8 12.9032 PRAMEF22 0 genome.wustl.edu 37 1 13036391 13036391 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 13036391 13036391 G A SNP PRAMEF22 ENST00000376187 human ensembl 74_37 +1 known missense c.463 p.V155I 0.000 NULL NULL - no_errors PRAMEF22 HGNC ENSG00000204508 91 0 0 56 54 49.0909 FCRL1 0 genome.wustl.edu 37 1 157765772 157765772 + RNA SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 157765772 157765772 G A SNP FCRL1 ENST00000368175 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors FCRL1 HGNC ENSG00000163534 27 0 0 9 13 59.0909 RGS18 0 genome.wustl.edu 37 1 192127818 192127818 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 192127818 192127818 A C SNP RGS18 ENST00000367460 human ensembl 74_37 +1 known missense c.51 p.K17N 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS18 HGNC ENSG00000150681 51 0 0 25 10 28.5714 USH2A 0 genome.wustl.edu 37 1 216373111 216373111 + Silent SNP A A G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 216373111 216373111 A G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.3669 p.C1223 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 129 0 0 67 15 18.2927 OBSCN 0 genome.wustl.edu 37 1 228474641 228474641 + Silent SNP C C A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 228474641 228474641 C A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.9445 p.R3149 0.000 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_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 31 0 0 22 3 12 SIPA1L2 0 genome.wustl.edu 37 1 232577524 232577524 + Missense_Mutation SNP G G C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 232577524 232577524 G C SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.3528 p.S1176R 0.906 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 24 0 0 12 3 20 RYR2 0 genome.wustl.edu 37 1 237804268 237804268 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 237804268 237804268 T G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.7181 p.I2394S 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 35 0 0 27 4 12.9032 FMN2 0 genome.wustl.edu 37 1 240370957 240370957 + Missense_Mutation SNP C C A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 240370957 240370957 C A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.2845 p.P949T 0.723 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 103 0 0 58 10 14.7059 GREM2 0 genome.wustl.edu 37 1 240656338 240656338 + Silent SNP G G C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 240656338 240656338 G C SNP GREM2 ENST00000318160 human ensembl 74_37 -1 known silent c.438 p.L146 0.994 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 129 1 0.769231 78 5 6.0241 OR2W5 0 genome.wustl.edu 37 1 247655335 247655335 + RNA SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 247655335 247655335 A C SNP OR2W5 ENST00000522351 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OR2W5 HGNC ENSG00000203664 213 0 0 75 51 40.4762 OR13G1 0 genome.wustl.edu 37 1 247835493 247835493 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 247835493 247835493 G A SNP OR13G1 ENST00000359688 human ensembl 74_37 -1 known missense c.851 p.P284L 0.995 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR13G1 HGNC ENSG00000197437 197 0 0 86 16 15.6863 OR2M5 0 genome.wustl.edu 37 1 248309088 248309088 + Silent SNP C C A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 248309088 248309088 C A SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known silent c.639 p.I213 0.010 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 625 0 0 369 50 11.9332 C1orf94 0 genome.wustl.edu 37 1 34684357 34684357 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 34684357 34684357 T G SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known missense c.1792 p.F598V 0.968 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 151 0 0 111 18 13.9535 UROD 0 genome.wustl.edu 37 1 45479566 45479566 + RNA SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 45479566 45479566 T G SNP UROD ENST00000460906 human ensembl 74_37 +1 known rna NULL NULL 0.150 - - - no_errors UROD HGNC ENSG00000126088 286 1 0.348432 158 34 17.7083 NEGR1 0 genome.wustl.edu 37 1 72076709 72076709 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 72076709 72076709 T G SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known missense c.788 p.K263T 1.000 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,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NEGR1 HGNC ENSG00000172260 167 1 0.595238 105 28 21.0526 HFM1 0 genome.wustl.edu 37 1 91846476 91846476 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 91846476 91846476 A C SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.866 p.F289C 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 117 0 0 53 14 20.8955 ALG14 0 genome.wustl.edu 37 1 95530569 95530569 + Silent SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 95530569 95530569 C T SNP ALG14 ENST00000370205 human ensembl 74_37 -1 known silent c.141 p.G47 0.757 pfam_Oligosacch_biosynth_Alg14 pfam_Oligosacch_biosynth_Alg14 - no_errors ALG14 HGNC ENSG00000172339 48 0 0 34 6 15 XPNPEP1 0 genome.wustl.edu 37 10 111667565 111667565 + Missense_Mutation SNP T T A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 10 111667565 111667565 T A SNP XPNPEP1 ENST00000502935 human ensembl 74_37 -1 known missense c.130 p.M44L 0.996 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 268 0 0 133 18 11.9205 CCDC3 0 genome.wustl.edu 37 10 13040500 13040500 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 10 13040500 13040500 A C SNP CCDC3 ENST00000378825 human ensembl 74_37 -1 known missense c.387 p.N129K 0.999 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 172 0 0 114 38 25 PRTFDC1 0 genome.wustl.edu 37 10 25197604 25197604 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 10 25197604 25197604 C T SNP PRTFDC1 ENST00000376376 human ensembl 74_37 -1 known missense c.350 p.R117Q 0.002 NULL NULL - no_errors PRTFDC1 HGNC ENSG00000099256 21 0 0 30 4 11.7647 MPP7 0 genome.wustl.edu 37 10 28348658 28348658 + Nonsense_Mutation SNP T T A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 10 28348658 28348658 T A SNP MPP7 ENST00000337532 human ensembl 74_37 -1 known nonsense c.1219 p.R407* 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_SH3_domain - no_errors MPP7 HGNC ENSG00000150054 141 0 0 125 21 14.3836 LRRC18 0 genome.wustl.edu 37 10 50122166 50122166 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 10 50122166 50122166 T G SNP LRRC18 ENST00000374160 human ensembl 74_37 -1 known missense c.35 p.K12T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC18 HGNC ENSG00000165383 88 0 0 41 11 21.1538 SFMBT2 0 genome.wustl.edu 37 10 7214510 7214510 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 10 7214510 7214510 C T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.2098 p.V700M 1.000 superfamily_ARM-type_fold pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 101 0 0 74 12 13.9535 PLA2G12B 0 genome.wustl.edu 37 10 74714363 74714363 + Silent SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 10 74714363 74714363 C T SNP PLA2G12B ENST00000373032 human ensembl 74_37 -1 known silent c.81 p.T27 0.000 pfam_PLipase_A2_secretory_G12 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom - no_errors PLA2G12B HGNC ENSG00000138308 233 0 0 334 28 7.73481 LIPF 0 genome.wustl.edu 37 10 90427343 90427343 + Silent SNP T T C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 10 90427343 90427343 T C SNP LIPF ENST00000394375 human ensembl 74_37 +1 known silent c.153 p.Y51 0.816 pfam_AB_hydrolase_lipase pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 121 0 0 31 25 44.6429 TRIM29 0 genome.wustl.edu 37 11 119991361 119991361 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 119991361 119991361 G A SNP TRIM29 ENST00000341846 human ensembl 74_37 -1 known missense c.1448 p.T483I 0.939 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 48 0 0 44 4 8.33333 RPS13 0 genome.wustl.edu 37 11 17099222 17099222 + RNA SNP G G C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 17099222 17099222 G C SNP RPS13 ENST00000526895 human ensembl 74_37 -1 known rna NULL NULL 0.285 - - - no_errors RPS13 HGNC ENSG00000110700 51 0 0 9 16 64 AGBL2 0 genome.wustl.edu 37 11 47712259 47712259 + Missense_Mutation SNP C C G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 47712259 47712259 C G SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known missense c.1000 p.V334L 0.000 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 221 0 0 116 20 14.7059 OR4C3 0 genome.wustl.edu 37 11 48346913 48346913 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 48346913 48346913 A C SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known missense c.421 p.T141P 0.575 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 481 0 0 304 56 15.5556 OR5T1 0 genome.wustl.edu 37 11 56043388 56043388 + Nonsense_Mutation SNP A A T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 56043388 56043388 A T SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known nonsense c.274 p.K92* 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 217 0 0 113 30 20.979 OR5T1 0 genome.wustl.edu 37 11 56043389 56043389 + Missense_Mutation SNP A A G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 56043389 56043389 A G SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known missense c.275 p.K92R 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 219 0 0 111 31 21.831 OR5T1 0 genome.wustl.edu 37 11 56043951 56043951 + Silent SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 56043951 56043951 T G SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known silent c.837 p.T279 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 283 0 0 205 36 14.9378 ENSG00000187811 0 genome.wustl.edu 37 11 71316389 71316389 + Missense_Mutation SNP C C G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 71316389 71316389 C G SNP ENSG00000187811 ENST00000343767 human ensembl 74_37 -1 known missense c.248 p.R83T 0.976 NULL NULL - no_errors AP000867.1 Clone_based_ensembl_gene ENSG00000187811 10 0 0 6 7 53.8462 FAM168A 0 genome.wustl.edu 37 11 73120596 73120596 + Silent SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 73120596 73120596 G A SNP FAM168A ENST00000064778 human ensembl 74_37 -1 known silent c.558 p.A186 0.194 NULL NULL - no_errors FAM168A HGNC ENSG00000054965 147 0 0 97 45 31.6901 TENM4 0 genome.wustl.edu 37 11 78412964 78412964 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 78412964 78412964 T G SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.4694 p.K1565T 1.000 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 164 0 0 90 43 32.3308 NLRP10 0 genome.wustl.edu 37 11 7982304 7982304 + Silent SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 7982304 7982304 C T SNP NLRP10 ENST00000328600 human ensembl 74_37 -1 known silent c.855 p.T285 0.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 262 0 0 55 64 53.7815 SCUBE2 0 genome.wustl.edu 37 11 9087507 9087507 + Missense_Mutation SNP C C G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 9087507 9087507 C G SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.781 p.E261Q 1.000 NULL pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 48 0 0 31 5 13.8889 FAT3 0 genome.wustl.edu 37 11 92258062 92258062 + Nonsense_Mutation SNP C C A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 92258062 92258062 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known nonsense c.3555 p.Y1185* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 62 0 0 41 3 6.81818 FAT3 0 genome.wustl.edu 37 11 92533457 92533457 + Silent SNP T T C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 92533457 92533457 T C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.7278 p.F2426 0.737 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 136 0 0 80 11 12.0879 FAT3 0 genome.wustl.edu 37 11 92533693 92533693 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 11 92533693 92533693 T G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.7514 p.V2505G 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 48 0 0 29 10 25.641 DDX54 0 genome.wustl.edu 37 12 113600965 113600965 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 12 113600965 113600965 G A SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known missense c.2053 p.R685W 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 71 0 0 72 7 8.86076 LRTM2 0 genome.wustl.edu 37 12 1943438 1943438 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 12 1943438 1943438 C T SNP LRTM2 ENST00000299194 human ensembl 74_37 +1 known missense c.664 p.R222C 0.233 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC ENSG00000166159 74 0 0 64 17 20.9877 ENSG00000245482 0 genome.wustl.edu 37 12 34175368 34175368 + RNA SNP G G T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 12 34175368 34175368 G T SNP ENSG00000245482 ENST00000501954 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-847H18.2 Clone_based_vega_gene ENSG00000245482 61 0 0 37 5 11.9048 SLC38A4 0 genome.wustl.edu 37 12 47172533 47172533 + Silent SNP G G T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 12 47172533 47172533 G T SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known silent c.744 p.P248 0.996 NULL pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 127 1 0.78125 105 28 21.0526 OR10AD1 0 genome.wustl.edu 37 12 48596871 48596871 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 12 48596871 48596871 G A SNP OR10AD1 ENST00000310248 human ensembl 74_37 -1 known missense c.205 p.L69F 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AD1 HGNC ENSG00000172640 50 0 0 64 12 15.7895 KRT84 0 genome.wustl.edu 37 12 52775177 52775177 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 12 52775177 52775177 G A SNP KRT84 ENST00000257951 human ensembl 74_37 -1 known missense c.1045 p.R349W 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 325 2 0.611621 96 144 60 FAM19A2 0 genome.wustl.edu 37 12 62147441 62147441 + Missense_Mutation SNP A A G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 12 62147441 62147441 A G SNP FAM19A2 ENST00000416284 human ensembl 74_37 -1 known missense c.346 p.W116R 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A2 HGNC ENSG00000198673 155 0 0 117 34 22.5166 CLSTN3 0 genome.wustl.edu 37 12 7301586 7301586 + Silent SNP C C A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 12 7301586 7301586 C A SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known silent c.1866 p.S622 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 79 0 0 65 4 5.7971 NECAP1 0 genome.wustl.edu 37 12 8242551 8242551 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 12 8242551 8242551 G A SNP NECAP1 ENST00000339754 human ensembl 74_37 +1 known missense c.115 p.D39N 1.000 pfam_NECAP-1 pfam_NECAP-1 - no_errors NECAP1 HGNC ENSG00000089818 208 0 0 181 14 7.17949 A2ML1 0 genome.wustl.edu 37 12 8975277 8975277 + Silent SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 12 8975277 8975277 G A SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known silent c.30 p.L10 0.065 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 140 0 0 130 9 6.47482 FGF9 0 genome.wustl.edu 37 13 22275428 22275428 + Nonsense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 13 22275428 22275428 C T SNP FGF9 ENST00000382353 human ensembl 74_37 +1 known nonsense c.481 p.R161* 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF9 HGNC ENSG00000102678 149 0 0 39 26 40 FLT3 0 genome.wustl.edu 37 13 28608309 28608309 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 13 28608309 28608309 C T SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known missense c.1747 p.G583S 0.996 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 70 0 0 60 9 13.0435 ENOX1 0 genome.wustl.edu 37 13 43896619 43896619 + Missense_Mutation SNP T T A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 13 43896619 43896619 T A SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known missense c.1162 p.S388C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 91 0 0 46 52 53.0612 SLITRK1 0 genome.wustl.edu 37 13 84454671 84454671 + Silent SNP C C A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 13 84454671 84454671 C A SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known silent c.972 p.A324 0.521 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 149 0 0 59 7 10.6061 GPC5 0 genome.wustl.edu 37 13 92051379 92051379 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 13 92051379 92051379 G A SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.79 p.V27M 0.011 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 37 0 0 30 4 11.7647 OR4Q3 0 genome.wustl.edu 37 14 20216435 20216435 + Missense_Mutation SNP G G T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 14 20216435 20216435 G T SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known missense c.849 p.L283F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4Q3 HGNC ENSG00000182652 247 1 0.403226 192 52 21.3115 OR11H4 0 genome.wustl.edu 37 14 20711092 20711092 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 14 20711092 20711092 A C SNP OR11H4 ENST00000315409 human ensembl 74_37 +1 known missense c.142 p.T48P 0.009 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H4 HGNC ENSG00000176198 134 0 0 106 28 20.8955 AP5M1 0 genome.wustl.edu 37 14 57741028 57741028 + Silent SNP A A G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 14 57741028 57741028 A G SNP AP5M1 ENST00000261558 human ensembl 74_37 +1 known silent c.141 p.E47 0.999 NULL pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C - no_errors AP5M1 HGNC ENSG00000053770 109 0 0 76 11 12.6437 MNAT1 0 genome.wustl.edu 37 14 61346450 61346450 + Missense_Mutation SNP G G C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 14 61346450 61346450 G C SNP MNAT1 ENST00000261245 human ensembl 74_37 +1 known missense c.706 p.A236P 1.000 pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,tigrfam_MAT1/Tfb3 pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1/Tfb3 - no_errors MNAT1 HGNC ENSG00000020426 87 0 0 53 10 15.873 KCNH5 0 genome.wustl.edu 37 14 63174582 63174582 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 14 63174582 63174582 T G SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.2611 p.S871R 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 191 0 0 114 31 21.3793 PROX2 0 genome.wustl.edu 37 14 75321889 75321889 + Silent SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 14 75321889 75321889 C T SNP PROX2 ENST00000445876 human ensembl 74_37 -1 known silent c.1725 p.S575 0.984 pfam_Homeo_prospero_dom,superfamily_Homeodomain-like pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX2 HGNC ENSG00000119608 21 0 0 12 5 29.4118 SEL1L 0 genome.wustl.edu 37 14 81943368 81943368 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 14 81943368 81943368 C T SNP SEL1L ENST00000336735 human ensembl 74_37 -1 known missense c.2333 p.R778Q 1.000 NULL pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd - no_errors SEL1L HGNC ENSG00000071537 129 0 0 94 14 12.963 NPAP1 0 genome.wustl.edu 37 15 24921536 24921536 + Silent SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 15 24921536 24921536 C T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known silent c.522 p.D174 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 62 0 0 41 13 24.0741 SEMA6D 0 genome.wustl.edu 37 15 48057176 48057176 + Missense_Mutation SNP A A T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 15 48057176 48057176 A T SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.1350 p.K450N 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 125 0 0 47 23 32.8571 TRPM7 0 genome.wustl.edu 37 15 50901825 50901825 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 15 50901825 50901825 A C SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.2533 p.F845V 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 80 0 0 27 13 32.5 CILP 0 genome.wustl.edu 37 15 65489069 65489069 + Nonstop_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 15 65489069 65489069 T G SNP CILP ENST00000261883 human ensembl 74_37 -1 known nonstop c.3555 p.*1185Y 0.008 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 46 0 0 25 13 34.2105 CILP 0 genome.wustl.edu 37 15 65494254 65494254 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 15 65494254 65494254 T G SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.1142 p.D381A 0.977 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 70 0 0 28 5 15.1515 CHRNA5 0 genome.wustl.edu 37 15 78882650 78882650 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 15 78882650 78882650 C T SNP CHRNA5 ENST00000299565 human ensembl 74_37 +1 known missense c.917 p.S306F 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,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 CHRNA5 HGNC ENSG00000169684 127 0 0 45 33 42.3077 AGBL1 0 genome.wustl.edu 37 15 86790989 86790989 + Missense_Mutation SNP A A T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 15 86790989 86790989 A T SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.476 p.N159I 0.011 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 56 0 0 33 12 26.6667 ISG20 0 genome.wustl.edu 37 15 89198676 89198676 + Missense_Mutation SNP G G C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 15 89198676 89198676 G C SNP ISG20 ENST00000306072 human ensembl 74_37 +1 known missense c.460 p.D154H 0.998 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ISG20 HGNC ENSG00000172183 140 0 0 191 46 19.4093 SRRM2 0 genome.wustl.edu 37 16 2814700 2814700 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 16 2814700 2814700 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.4171 p.V1391M 0.018 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 495 0 0 419 27 6.05381 MMP25 0 genome.wustl.edu 37 16 3100341 3100341 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 16 3100341 3100341 A C SNP MMP25 ENST00000336577 human ensembl 74_37 +1 known missense c.455 p.E152A 0.044 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP25 HGNC ENSG00000008516 105 0 0 62 28 31.1111 TMEM8A 0 genome.wustl.edu 37 16 427480 427480 + Silent SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 16 427480 427480 G A SNP TMEM8A ENST00000431232 human ensembl 74_37 -1 known silent c.405 p.T135 0.000 NULL pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 14 0 0 22 3 12 C16orf78 0 genome.wustl.edu 37 16 49407930 49407930 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 16 49407930 49407930 G A SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known missense c.80 p.R27H 0.274 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 177 0 0 78 32 29.0909 WDR90 0 genome.wustl.edu 37 16 716300 716300 + Missense_Mutation SNP A A G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 16 716300 716300 A G SNP WDR90 ENST00000315764 human ensembl 74_37 +1 known missense c.487 p.S163G 0.719 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 109 0 0 84 10 10.6383 WDR59 0 genome.wustl.edu 37 16 74943480 74943480 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 16 74943480 74943480 G A SNP WDR59 ENST00000262144 human ensembl 74_37 -1 known missense c.1561 p.R521W 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 231 0 0 124 15 10.7914 MYH4 0 genome.wustl.edu 37 17 10367883 10367883 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 17 10367883 10367883 T G SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.554 p.K185T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 113 0 0 60 22 26.8293 SSH2 0 genome.wustl.edu 37 17 27959445 27959445 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 17 27959445 27959445 G A SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.2686 p.R896C 0.992 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 523 0 0 285 52 15.4303 NGFR 0 genome.wustl.edu 37 17 47590140 47590140 + Silent SNP C C G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 17 47590140 47590140 C G SNP NGFR ENST00000172229 human ensembl 74_37 +1 known silent c.1053 p.L351 0.792 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 - no_errors NGFR HGNC ENSG00000064300 203 1 0.490196 62 70 53.0303 COL1A1 0 genome.wustl.edu 37 17 48271380 48271380 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 17 48271380 48271380 C T SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.1691 p.R564H 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 140 0 0 99 28 22.0472 KIAA0753 0 genome.wustl.edu 37 17 6483160 6483160 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 17 6483160 6483160 T G SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known missense c.2811 p.E937D 0.999 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 158 1 0.628931 99 30 23.2558 TP53 0 genome.wustl.edu 37 17 7578395 7578395 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 17 7578395 7578395 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.535 p.H179Y 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 101 0 0 18 26 59.0909 TNRC6C 0 genome.wustl.edu 37 17 76087561 76087561 + Missense_Mutation SNP G G T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 17 76087561 76087561 G T SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.3834 p.M1278I 0.992 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 57 0 0 24 18 42.8571 SMAD2 0 genome.wustl.edu 37 18 45374881 45374881 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 18 45374881 45374881 C T SNP SMAD2 ENST00000262160 human ensembl 74_37 -1 known missense c.962 p.R321Q 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 156 0 0 82 11 11.828 ZNF407 0 genome.wustl.edu 37 18 72343302 72343302 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 18 72343302 72343302 T G SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.327 p.D109E 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 148 0 0 89 13 12.7451 ZNF85 0 genome.wustl.edu 37 19 21132661 21132661 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 19 21132661 21132661 T G SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.1341 p.I447M 0.895 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 ZNF85 HGNC ENSG00000105750 55 0 0 27 3 10 ZNF98 0 genome.wustl.edu 37 19 22574931 22574931 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 19 22574931 22574931 T G SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.1106 p.K369T 0.966 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 ZNF98 HGNC ENSG00000197360 62 0 0 18 30 62.5 C19orf40 0 genome.wustl.edu 37 19 33464169 33464169 + Nonsense_Mutation SNP G G T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 19 33464169 33464169 G T SNP C19orf40 ENST00000588258 human ensembl 74_37 +1 known nonsense c.67 p.E23* 1.000 NULL superfamily_RuvA_2-like - no_errors C19orf40 HGNC ENSG00000131944 135 0 0 126 13 9.35252 C19orf40 0 genome.wustl.edu 37 19 33464171 33464171 + Silent SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 19 33464171 33464171 G A SNP C19orf40 ENST00000588258 human ensembl 74_37 +1 known silent c.69 p.E23 1.000 NULL superfamily_RuvA_2-like - no_errors C19orf40 HGNC ENSG00000131944 138 0 0 123 12 8.88889 GIPR 0 genome.wustl.edu 37 19 46174616 46174616 + Silent SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 19 46174616 46174616 G A SNP GIPR ENST00000590918 human ensembl 74_37 +1 known silent c.246 p.A82 0.097 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC ENSG00000010310 164 0 0 116 38 24.6753 MYBPC2 0 genome.wustl.edu 37 19 50958830 50958830 + Missense_Mutation SNP A A G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 19 50958830 50958830 A G SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known missense c.2267 p.K756R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 190 0 0 71 50 41.3223 ZNF845 0 genome.wustl.edu 37 19 53855942 53855942 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 19 53855942 53855942 T G SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.2014 p.F672V 0.013 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 ZNF845 HGNC ENSG00000213799 181 0 0 92 5 5.15464 VSTM1 0 genome.wustl.edu 37 19 54544331 54544331 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 19 54544331 54544331 C T SNP VSTM1 ENST00000338372 human ensembl 74_37 -1 known missense c.595 p.A199T 0.002 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM1 HGNC ENSG00000189068 32 0 0 18 7 28 SUV420H2 0 genome.wustl.edu 37 19 55856048 55856048 + RNA SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 19 55856048 55856048 G A SNP SUV420H2 ENST00000402499 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SUV420H2 HGNC ENSG00000133247 12 0 0 10 4 28.5714 PEG3 0 genome.wustl.edu 37 19 57327776 57327776 + Silent SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 19 57327776 57327776 A C SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.2034 p.T678 0.240 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 220 1 0.452489 108 27 20 RFX2 0 genome.wustl.edu 37 19 6040129 6040129 + Silent SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 19 6040129 6040129 G A SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known silent c.384 p.P128 0.985 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 94 0 0 82 19 18.8119 MUC16 0 genome.wustl.edu 37 19 9046975 9046975 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 19 9046975 9046975 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.34656 p.S11552R 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 83 0 0 64 24 27.2727 MUC16 0 genome.wustl.edu 37 19 9088917 9088917 + Silent SNP A A T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 19 9088917 9088917 A T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.2898 p.T966 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 391 1 0.255102 175 122 41.0774 NCKAP5 0 genome.wustl.edu 37 2 133540288 133540288 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 133540288 133540288 T G SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.4096 p.S1366R 0.996 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 80 0 0 51 11 17.7419 LRP1B 0 genome.wustl.edu 37 2 141625375 141625375 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 141625375 141625375 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4363 p.D1455N 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 110 0 0 33 26 44.0678 ORC4 0 genome.wustl.edu 37 2 148715948 148715948 + Silent SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 148715948 148715948 C T SNP ORC4 ENST00000264169 human ensembl 74_37 -1 known silent c.306 p.L102 0.968 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_ORC4 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_ORC4 - no_errors ORC4 HGNC ENSG00000115947 96 0 0 52 7 11.8644 FIGN 0 genome.wustl.edu 37 2 164466918 164466918 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 164466918 164466918 T G SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.1424 p.E475A 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 103 0 0 59 9 13.2353 DHRS9 0 genome.wustl.edu 37 2 169940025 169940025 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 169940025 169940025 G A SNP DHRS9 ENST00000432060 human ensembl 74_37 +1 known missense c.680 p.G227D 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 140 0 0 68 26 27.6596 GAD1 0 genome.wustl.edu 37 2 171702021 171702021 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 171702021 171702021 G A SNP GAD1 ENST00000358196 human ensembl 74_37 +1 known missense c.757 p.A253T 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD1 HGNC ENSG00000128683 133 0 0 68 23 25.2747 TTN 0 genome.wustl.edu 37 2 179419406 179419406 + Silent SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 179419406 179419406 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.80964 p.R26988 0.510 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 175 0 0 105 6 5.40541 TTN 0 genome.wustl.edu 37 2 179466785 179466785 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 179466785 179466785 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.47509 p.R15837C 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,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 175 0 0 78 18 18.75 TTN 0 genome.wustl.edu 37 2 179482583 179482583 + Missense_Mutation SNP C C A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 179482583 179482583 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.39791 p.R13264L 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 200 1 0.497512 83 16 16.1616 TTN 0 genome.wustl.edu 37 2 179579038 179579038 + Silent SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 179579038 179579038 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.22731 p.F7577 0.048 pfam_Ig_I-set,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 192 0 0 115 17 12.8788 TTN 0 genome.wustl.edu 37 2 179594123 179594123 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 179594123 179594123 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.15028 p.F5010V 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 161 0 0 95 11 10.3774 MDH1B 0 genome.wustl.edu 37 2 207620121 207620121 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 207620121 207620121 T G SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known missense c.522 p.E174D 0.002 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 97 0 0 58 10 14.7059 CPS1 0 genome.wustl.edu 37 2 211507265 211507265 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 211507265 211507265 T G SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.3035 p.L1012R 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 122 1 0.813008 92 16 14.8148 APOB 0 genome.wustl.edu 37 2 21230450 21230450 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 21230450 21230450 T G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.9290 p.K3097T 0.998 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 247 0 0 181 18 9.04523 ABCA12 0 genome.wustl.edu 37 2 215802254 215802254 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 215802254 215802254 A C SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.7522 p.F2508V 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 92 0 0 63 11 14.8649 XRCC5 0 genome.wustl.edu 37 2 217012887 217012887 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 217012887 217012887 G A SNP XRCC5 ENST00000392132 human ensembl 74_37 +1 known missense c.1558 p.A520T 0.005 pfam_Ku_C,superfamily_SPOC_like_C_dom pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom - no_errors XRCC5 HGNC ENSG00000079246 216 0 0 127 23 15.3333 DNER 0 genome.wustl.edu 37 2 230282864 230282864 + Silent SNP G G C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 230282864 230282864 G C SNP DNER ENST00000341772 human ensembl 74_37 -1 known silent c.1569 p.L523 0.001 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 119 0 0 90 12 11.7647 OTOF 0 genome.wustl.edu 37 2 26685000 26685000 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 26685000 26685000 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.5242 p.D1748N 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 356 0 0 215 64 22.9391 DPYSL5 0 genome.wustl.edu 37 2 27156127 27156127 + Missense_Mutation SNP C C A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 27156127 27156127 C A SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known missense c.716 p.T239N 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 118 1 0.840336 74 24 24.4898 THADA 0 genome.wustl.edu 37 2 43802126 43802126 + Silent SNP A A G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 43802126 43802126 A G SNP THADA ENST00000405006 human ensembl 74_37 -1 known silent c.1078 p.L360 0.224 NULL pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 198 0 0 94 53 36.0544 FSHR 0 genome.wustl.edu 37 2 49216184 49216184 + Silent SNP T T C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 49216184 49216184 T C SNP FSHR ENST00000406846 human ensembl 74_37 -1 known silent c.456 p.Q152 1.000 prints_FSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 62 0 0 26 17 39.5349 BCL11A 0 genome.wustl.edu 37 2 60679678 60679678 + RNA SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 2 60679678 60679678 G A SNP BCL11A ENST00000489516 human ensembl 74_37 -1 known rna NULL NULL 0.053 - - - no_errors BCL11A HGNC ENSG00000119866 141 0 0 62 29 31.8681 SEC23B 0 genome.wustl.edu 37 20 18531753 18531753 + Silent SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 20 18531753 18531753 C T SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known silent c.1926 p.S642 1.000 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 178 0 0 109 17 13.4921 CST2 0 genome.wustl.edu 37 20 23804666 23804666 + Silent SNP T T C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 20 23804666 23804666 T C SNP CST2 ENST00000304725 human ensembl 74_37 -1 known silent c.417 p.Q139 0.000 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST2 HGNC ENSG00000170369 86 0 0 99 21 17.5 ZNF334 0 genome.wustl.edu 37 20 45130817 45130817 + Silent SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 20 45130817 45130817 G A SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known silent c.1161 p.F387 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF334 HGNC ENSG00000198185 318 1 0.31348 277 18 6.10169 PHACTR3 0 genome.wustl.edu 37 20 58411616 58411616 + Splice_Site SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 20 58411616 58411616 G A SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known splice_site c.1384+1 e9+1 1.000 - - - no_errors PHACTR3 HGNC ENSG00000087495 72 0 0 56 4 6.66667 CDH4 0 genome.wustl.edu 37 20 60427821 60427821 + Silent SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 20 60427821 60427821 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.744 p.H248 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 112 0 0 103 19 15.5738 KCNQ2 0 genome.wustl.edu 37 20 62039791 62039791 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 20 62039791 62039791 C T SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.1886 p.G629E 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 29 0 0 24 6 20 MYT1 0 genome.wustl.edu 37 20 62853334 62853334 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 20 62853334 62853334 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.2411 p.G804E 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 87 0 0 85 12 12.3711 CECR1 0 genome.wustl.edu 37 22 17662401 17662401 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 22 17662401 17662401 T G SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.1508 p.K503T 0.935 tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 606 0 0 340 94 21.659 MICAL3 0 genome.wustl.edu 37 22 18324716 18324716 + Silent SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 22 18324716 18324716 G A SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known silent c.2673 p.I891 0.913 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 12 0 0 7 8 53.3333 MGAT3 0 genome.wustl.edu 37 22 39884022 39884022 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 22 39884022 39884022 C T SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known missense c.670 p.R224C 1.000 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 61 0 0 38 3 7.31707 MSL2 0 genome.wustl.edu 37 3 135871486 135871486 + Silent SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 3 135871486 135871486 A C SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known silent c.237 p.P79 0.728 pfscan_Znf_RING pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 311 1 0.320513 184 47 20.3463 IGSF10 0 genome.wustl.edu 37 3 151165623 151165623 + Missense_Mutation SNP T T A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 3 151165623 151165623 T A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.2146 p.S716C 0.002 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 80 0 0 52 21 28.7671 SLITRK3 0 genome.wustl.edu 37 3 164907653 164907653 + Silent SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 3 164907653 164907653 A C SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known silent c.966 p.S322 0.983 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 370 0 0 213 54 20.2247 CCDC39 0 genome.wustl.edu 37 3 180379665 180379665 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 3 180379665 180379665 T G SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.341 p.K114T 0.982 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 21 0 0 8 3 27.2727 KCNH8 0 genome.wustl.edu 37 3 19389349 19389349 + Missense_Mutation SNP G G C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 3 19389349 19389349 G C SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.703 p.V235L 1.000 prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 232 0 0 127 11 7.97101 DOCK3 0 genome.wustl.edu 37 3 51399300 51399300 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 3 51399300 51399300 T G SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.5017 p.L1673V 0.997 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 36 0 0 12 5 29.4118 ROBO1 0 genome.wustl.edu 37 3 78667120 78667120 + Missense_Mutation SNP C C A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 3 78667120 78667120 C A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.3947 p.G1316V 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,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 ROBO1 HGNC ENSG00000169855 98 0 0 70 8 10.2564 EPHA3 0 genome.wustl.edu 37 3 89480445 89480445 + Missense_Mutation SNP A A T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 3 89480445 89480445 A T SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.2282 p.K761M 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,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_2,pfam_SAM_type1,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 EPHA3 HGNC ENSG00000044524 75 0 0 55 6 9.83607 FAT4 0 genome.wustl.edu 37 4 126242602 126242602 + Missense_Mutation SNP G G T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 4 126242602 126242602 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5036 p.R1679L 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 325 0 0 136 24 15 GUCY1B3 0 genome.wustl.edu 37 4 156696213 156696213 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 4 156696213 156696213 A C SNP GUCY1B3 ENST00000264424 human ensembl 74_37 +1 known missense c.171 p.K57N 1.000 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 144 0 0 72 10 12.1951 TRIM60 0 genome.wustl.edu 37 4 165962283 165962283 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 4 165962283 165962283 A C SNP TRIM60 ENST00000341062 human ensembl 74_37 +1 known missense c.1059 p.E353D 0.998 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM60 HGNC ENSG00000176979 181 1 0.549451 64 36 36 FGFR3 0 genome.wustl.edu 37 4 1807537 1807537 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 4 1807537 1807537 C T SNP FGFR3 ENST00000340107 human ensembl 74_37 +1 known missense c.1712 p.A571V 1.000 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR3 HGNC ENSG00000068078 139 0 0 84 17 16.8317 TRIML1 0 genome.wustl.edu 37 4 189064872 189064872 + RNA SNP T T C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 4 189064872 189064872 T C SNP TRIML1 ENST00000507581 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIML1 HGNC ENSG00000184108 138 0 0 67 9 11.8421 NOP14 0 genome.wustl.edu 37 4 2948261 2948261 + Missense_Mutation SNP G G T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 4 2948261 2948261 G T SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known missense c.1513 p.L505I 0.983 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 85 0 0 36 21 36.8421 KIAA1211 0 genome.wustl.edu 37 4 57182325 57182325 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 4 57182325 57182325 C T SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.2657 p.A886V 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 66 0 0 22 10 31.25 EPHA5 0 genome.wustl.edu 37 4 66189893 66189893 + Missense_Mutation SNP T T A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 4 66189893 66189893 T A SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.3053 p.K1018M 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM 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,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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 93 0 0 49 8 14.0351 STAP1 0 genome.wustl.edu 37 4 68441207 68441207 + Silent SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 4 68441207 68441207 A C SNP STAP1 ENST00000265404 human ensembl 74_37 +1 known silent c.297 p.V99 0.176 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors STAP1 HGNC ENSG00000035720 105 1 0.943396 38 17 30.9091 TMPRSS11D 0 genome.wustl.edu 37 4 68688159 68688159 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 4 68688159 68688159 C T SNP TMPRSS11D ENST00000283916 human ensembl 74_37 -1 known missense c.1153 p.G385R 1.000 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_SEA_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11D HGNC ENSG00000153802 137 0 0 81 15 15.625 FER 0 genome.wustl.edu 37 5 108295030 108295030 + Silent SNP G G T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 108295030 108295030 G T SNP FER ENST00000281092 human ensembl 74_37 +1 known silent c.1638 p.L546 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,superfamily_Kinase-like_dom,pfscan_SH2 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 147 0 0 72 19 20.8791 FER 0 genome.wustl.edu 37 5 108295031 108295031 + Silent SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 108295031 108295031 C T SNP FER ENST00000281092 human ensembl 74_37 +1 known silent c.1639 p.L547 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,superfamily_Kinase-like_dom,pfscan_SH2 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 147 0 0 73 18 19.7802 CTNND2 0 genome.wustl.edu 37 5 10973668 10973668 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 10973668 10973668 T G SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.3575 p.K1192T 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 202 0 0 115 20 14.8148 FBN2 0 genome.wustl.edu 37 5 127648460 127648460 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 127648460 127648460 T G SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.4745 p.K1582T 0.999 pirsf_FBN,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 481 0 0 205 131 38.9881 PCDHA6 0 genome.wustl.edu 37 5 140209052 140209052 + Missense_Mutation SNP A A G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 140209052 140209052 A G SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.1376 p.E459G 0.002 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 144 0 0 59 20 25.3165 PCDHA9 0 genome.wustl.edu 37 5 140229433 140229433 + Silent SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 140229433 140229433 C T SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1353 p.N451 0.993 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 171 0 0 76 39 33.913 GPR151 0 genome.wustl.edu 37 5 145895420 145895420 + Missense_Mutation SNP G G T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 145895420 145895420 G T SNP GPR151 ENST00000311104 human ensembl 74_37 -1 known missense c.257 p.S86Y 0.975 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR151 HGNC ENSG00000173250 134 0 0 68 11 13.9241 DOCK2 0 genome.wustl.edu 37 5 169267776 169267776 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 169267776 169267776 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.2719 p.H907Y 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 55 0 0 23 17 42.5 KCNIP1 0 genome.wustl.edu 37 5 170148760 170148760 + Splice_Site SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 170148760 170148760 A C SNP KCNIP1 ENST00000434108 human ensembl 74_37 +1 novel splice_site c.257-2 e4-2 0.000 - - - no_errors KCNIP1 HGNC ENSG00000182132 101 0 0 52 15 22.3881 CDH10 0 genome.wustl.edu 37 5 24487649 24487649 + RNA SNP A A G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 24487649 24487649 A G SNP CDH10 ENST00000502921 human ensembl 74_37 -1 known rna NULL NULL 0.603 - - - no_errors CDH10 HGNC ENSG00000040731 46 0 0 36 8 18.1818 RXFP3 0 genome.wustl.edu 37 5 33936975 33936975 + Nonsense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 33936975 33936975 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known nonsense c.130 p.Q44* 0.738 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 166 0 0 162 18 10 AGXT2 0 genome.wustl.edu 37 5 35047947 35047947 + Silent SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 35047947 35047947 G A SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known silent c.51 p.S17 0.004 NULL pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 81 0 0 24 45 65.2174 SPEF2 0 genome.wustl.edu 37 5 35649490 35649490 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 35649490 35649490 G A SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.754 p.E252K 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 133 0 0 133 17 11.3333 NNT 0 genome.wustl.edu 37 5 43700241 43700241 + Missense_Mutation SNP C C A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 43700241 43700241 C A SNP NNT ENST00000264663 human ensembl 74_37 +1 known missense c.2897 p.A966E 1.000 pfam_NADH_DH_b pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 239 0 0 261 27 9.375 SLC9A3 0 genome.wustl.edu 37 5 484801 484801 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 484801 484801 C T SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known missense c.766 p.V256M 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 177 0 0 91 29 24.1667 KIAA0825 0 genome.wustl.edu 37 5 93856182 93856182 + Silent SNP T T A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 5 93856182 93856182 T A SNP KIAA0825 ENST00000427991 human ensembl 74_37 -1 known silent c.741 p.T247 0.973 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 99 0 0 21 11 34.375 DDO 0 genome.wustl.edu 37 6 110734556 110734556 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 6 110734556 110734556 T G SNP DDO ENST00000368924 human ensembl 74_37 -1 known missense c.194 p.K65T 0.278 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DDO HGNC ENSG00000203797 295 0 0 237 24 9.1954 AKAP7 0 genome.wustl.edu 37 6 131520709 131520709 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 6 131520709 131520709 A C SNP AKAP7 ENST00000368123 human ensembl 74_37 +1 known missense c.632 p.K211T 0.737 pfam_Kinase-A_anchor_nucl_local_sig,superfamily_RNA_ligase/cNuc_Pdiesterase pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 81 0 0 55 15 21.4286 EYA4 0 genome.wustl.edu 37 6 133783490 133783490 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 6 133783490 133783490 T G SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.455 p.L152R 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 283 1 0.352113 179 51 22.1739 BCLAF1 0 genome.wustl.edu 37 6 136599308 136599308 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 6 136599308 136599308 A C SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.711 p.S237R 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 293 1 0.340136 415 32 7.15884 CLIC5 0 genome.wustl.edu 37 6 45870858 45870858 + Silent SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 6 45870858 45870858 G A SNP CLIC5 ENST00000185206 human ensembl 74_37 -1 known silent c.1200 p.Y400 0.980 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 133 0 0 70 25 26.3158 PKHD1 0 genome.wustl.edu 37 6 51524237 51524237 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 6 51524237 51524237 A C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.10687 p.L3563V 1.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 119 0 0 53 17 24.2857 PKHD1 0 genome.wustl.edu 37 6 51611659 51611659 + Missense_Mutation SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 6 51611659 51611659 A C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.9858 p.S3286R 0.998 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 77 0 0 30 11 26.8293 DST 0 genome.wustl.edu 37 6 56391317 56391317 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 6 56391317 56391317 T G SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.17878 p.N5960H 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 253 0 0 193 32 14.2222 RIMS1 0 genome.wustl.edu 37 6 72678732 72678732 + Missense_Mutation SNP A A G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 6 72678732 72678732 A G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.211 p.R71G 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 172 0 0 75 8 9.63855 COL12A1 0 genome.wustl.edu 37 6 75797317 75797317 + Missense_Mutation SNP G G C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 6 75797317 75797317 G C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.9157 p.P3053A 1.000 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 161 0 0 123 8 6.10687 SPACA1 0 genome.wustl.edu 37 6 88768524 88768524 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 6 88768524 88768524 T G SNP SPACA1 ENST00000237201 human ensembl 74_37 +1 known missense c.458 p.L153R 0.971 NULL NULL - no_errors SPACA1 HGNC ENSG00000118434 96 0 0 41 17 29.3103 FOXP2 0 genome.wustl.edu 37 7 114268850 114268850 + RNA SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 7 114268850 114268850 C T SNP FOXP2 ENST00000459666 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FOXP2 HGNC ENSG00000128573 36 0 0 22 5 18.5185 THSD7A 0 genome.wustl.edu 37 7 11485942 11485942 + Missense_Mutation SNP T T A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 7 11485942 11485942 T A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.2810 p.K937I 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 310 0 0 169 30 15.0754 GRM8 0 genome.wustl.edu 37 7 126173313 126173313 + Missense_Mutation SNP A A T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 7 126173313 126173313 A T SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.2123 p.L708H 0.984 pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 75 0 0 34 24 41.3793 CNTNAP2 0 genome.wustl.edu 37 7 146825791 146825791 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 7 146825791 146825791 T G SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.946 p.F316V 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 180 0 0 98 16 14.0351 NOS3 0 genome.wustl.edu 37 7 150707215 150707215 + Missense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 7 150707215 150707215 C T SNP NOS3 ENST00000297494 human ensembl 74_37 +1 known missense c.2525 p.P842L 0.957 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 108 0 0 67 11 14.1026 ADCYAP1R1 0 genome.wustl.edu 37 7 31132307 31132307 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 7 31132307 31132307 T G SNP ADCYAP1R1 ENST00000304166 human ensembl 74_37 +1 known missense c.1004 p.L335R 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 130 0 0 67 13 16.25 SLC29A4 0 genome.wustl.edu 37 7 5338715 5338715 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 7 5338715 5338715 G A SNP SLC29A4 ENST00000297195 human ensembl 74_37 +1 known missense c.979 p.V327M 0.984 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 32 0 0 15 7 31.8182 PCLO 0 genome.wustl.edu 37 7 82582652 82582652 + Silent SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 7 82582652 82582652 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.7617 p.T2539 0.673 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 155 1 0.641026 65 48 42.4779 KIAA1324L 0 genome.wustl.edu 37 7 86522399 86522399 + Nonsense_Mutation SNP C C T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 7 86522399 86522399 C T SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known nonsense c.2703 p.W901* 1.000 NULL superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 274 0 0 147 11 6.96203 TSNARE1 0 genome.wustl.edu 37 8 143381807 143381807 + RNA SNP G G C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 8 143381807 143381807 G C SNP TSNARE1 ENST00000518928 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TSNARE1 HGNC ENSG00000171045 50 0 0 24 6 20 CLVS1 0 genome.wustl.edu 37 8 62212731 62212731 + Silent SNP T T C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 8 62212731 62212731 T C SNP CLVS1 ENST00000325897 human ensembl 74_37 +1 known silent c.345 p.D115 0.981 NULL pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS1 HGNC ENSG00000177182 95 0 0 39 13 25 PRDM14 0 genome.wustl.edu 37 8 70981820 70981820 + Silent SNP C C A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 8 70981820 70981820 C A SNP PRDM14 ENST00000276594 human ensembl 74_37 -1 known silent c.276 p.L92 0.243 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 16 0 0 12 57 82.6087 CPQ 0 genome.wustl.edu 37 8 97797431 97797431 + Silent SNP A A G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 8 97797431 97797431 A G SNP CPQ ENST00000220763 human ensembl 74_37 +1 known silent c.306 p.K102 0.558 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 92 0 0 69 7 9.21053 NIPSNAP3A 0 genome.wustl.edu 37 9 107513407 107513407 + Silent SNP T T C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 9 107513407 107513407 T C SNP NIPSNAP3A ENST00000374767 human ensembl 74_37 +1 known silent c.231 p.F77 1.000 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP3A HGNC ENSG00000136783 327 0 0 216 15 6.49351 PALM2-AKAP2 0 genome.wustl.edu 37 9 112899340 112899340 + Missense_Mutation SNP C C A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 9 112899340 112899340 C A SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.1516 p.Q506K 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 51 0 0 41 10 19.6078 PAPPA 0 genome.wustl.edu 37 9 119106909 119106909 + Nonsense_Mutation SNP C C A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 9 119106909 119106909 C A SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known nonsense c.3699 p.Y1233* 1.000 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 122 1 0.813008 75 20 21.0526 PHF19 0 genome.wustl.edu 37 9 123620323 123620323 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 9 123620323 123620323 G A SNP PHF19 ENST00000373896 human ensembl 74_37 -1 known missense c.1642 p.R548W 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD - no_errors PHF19 HGNC ENSG00000119403 147 0 0 87 28 24.3478 NACC2 0 genome.wustl.edu 37 9 138903451 138903451 + Missense_Mutation SNP A A G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 9 138903451 138903451 A G SNP NACC2 ENST00000277554 human ensembl 74_37 -1 known missense c.1675 p.F559L 0.998 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC2 HGNC ENSG00000148411 25 0 0 6 8 57.1429 SNAPC4 0 genome.wustl.edu 37 9 139273707 139273707 + Missense_Mutation SNP C C A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 9 139273707 139273707 C A SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known missense c.2572 p.A858S 0.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 25 0 0 11 3 21.4286 ALDH1A1 0 genome.wustl.edu 37 9 75541999 75541999 + RNA SNP T T C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 9 75541999 75541999 T C SNP ALDH1A1 ENST00000493113 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ALDH1A1 HGNC ENSG00000165092 83 0 0 36 10 21.7391 NRK 0 genome.wustl.edu 37 X 105153078 105153078 + Missense_Mutation SNP A A G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 X 105153078 105153078 A G SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.1448 p.Q483R 0.892 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 31 0 0 11 10 47.619 DCAF12L2 0 genome.wustl.edu 37 X 125299786 125299786 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 X 125299786 125299786 T G SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.122 p.K41T 0.251 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 15 0 0 7 18 72 IGSF1 0 genome.wustl.edu 37 X 130417042 130417042 + Silent SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 X 130417042 130417042 G A SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known silent c.864 p.I288 0.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 84 0 0 136 21 13.3758 MCF2 0 genome.wustl.edu 37 X 138689844 138689844 + RNA SNP G G T TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 X 138689844 138689844 G T SNP MCF2 ENST00000483690 human ensembl 74_37 -1 known rna NULL NULL 0.278 - - - no_errors MCF2 HGNC ENSG00000101977 34 0 0 5 10 66.6667 CNKSR2 0 genome.wustl.edu 37 X 21670583 21670583 + Missense_Mutation SNP G G C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 X 21670583 21670583 G C SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known missense c.3049 p.D1017H 1.000 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 112 0 0 16 45 73.7705 MAGEB6 0 genome.wustl.edu 37 X 26212089 26212089 + Silent SNP A A C TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 X 26212089 26212089 A C SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known silent c.126 p.S42 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 62 0 0 28 20 41.6667 DMD 0 genome.wustl.edu 37 X 32662249 32662249 + Missense_Mutation SNP T T G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 X 32662249 32662249 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.1331 p.N444T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 91 0 0 33 18 35.2941 PCDH11X 0 genome.wustl.edu 37 X 91131988 91131988 + Missense_Mutation SNP A A G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 X 91131988 91131988 A G SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.749 p.K250R 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 117 0 0 150 8 5.06329 PCDH11X 0 genome.wustl.edu 37 X 91133430 91133430 + Missense_Mutation SNP G G A TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 X 91133430 91133430 G A SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.2191 p.G731S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 92 0 0 27 103 79.2308 FGGY 0 genome.wustl.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 1 59812016 59812017 - G INS FGGY ENST00000303721 human ensembl 74_37 +1 known frame_shift_ins c.411_412 p.V139fs 0.394:0.997 pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 76 0 0 46 13 22.0339 ZWINT 0 genome.wustl.edu 37 10 58118340 58118340 + Frame_Shift_Del DEL T T - TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 10 58118340 58118340 T - DEL ZWINT ENST00000373944 human ensembl 74_37 -1 known frame_shift_del c.769 p.R257fs 0.002 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 218 0 0 172 21 10.8808 TRANK1 0 genome.wustl.edu 37 3 36898133 36898135 + In_Frame_Del DEL ATG ATG - TCGA-CG-4444-01A-01D-1158-08 TCGA-CG-4444-10A-01D-1158-08 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3371f62e-5697-420b-9420-a5076ce77fc1 80c8f666-d087-4d69-87fa-a9072901d925 3 36898133 36898135 ATG - DEL TRANK1 ENST00000429976 human ensembl 74_37 -1 known in_frame_del c.2948_2946 p.I982in_frame_del 1.000:1.000:1.000 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 353 0 0 206 18 8.03571