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 PKLR 0 genome.wustl.edu 37 1 155263039 155263039 + Silent SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 1 155263039 155263039 G A SNP PKLR ENST00000342741 human ensembl 74_37 -1 known silent c.1365 p.T455 0.053 pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 172 0 0 41 40 49.3827 FCER1G 0 genome.wustl.edu 37 1 161188816 161188816 + RNA SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 1 161188816 161188816 C T SNP FCER1G ENST00000490414 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FCER1G HGNC ENSG00000158869 38 0 0 10 16 61.5385 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 254 0 0 104 30 22.3881 CD34 0 genome.wustl.edu 37 1 208061454 208061454 + Missense_Mutation SNP G G T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 1 208061454 208061454 G T SNP CD34 ENST00000356522 human ensembl 74_37 -1 known missense c.982 p.P328T 1.000 prints_CD34 pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 59 0 0 32 3 8.57143 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 324 1 0.307692 105 45 30 HHIPL2 0 genome.wustl.edu 37 1 222696035 222696035 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 1 222696035 222696035 G A SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known missense c.2083 p.R695C 0.090 NULL pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 447 0 0 183 161 46.8023 WNT9A 0 genome.wustl.edu 37 1 228109319 228109319 + Missense_Mutation SNP C C A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 1 228109319 228109319 C A SNP WNT9A ENST00000272164 human ensembl 74_37 -1 known missense c.998 p.R333L 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a - no_errors WNT9A HGNC ENSG00000143816 59 0 0 41 10 19.6078 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 135 0 0 50 43 46.2366 TARBP1 0 genome.wustl.edu 37 1 234534053 234534053 + RNA SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 1 234534053 234534053 G A SNP TARBP1 ENST00000484454 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TARBP1 HGNC ENSG00000059588 21 0 0 12 17 58.6207 AKT3 0 genome.wustl.edu 37 1 243727110 243727110 + Missense_Mutation SNP A A C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 1 243727110 243727110 A C SNP AKT3 ENST00000263826 human ensembl 74_37 -1 known missense c.860 p.I287S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT3 HGNC ENSG00000117020 75 0 0 38 39 50.6494 LRRC41 0 genome.wustl.edu 37 1 46746843 46746843 + Silent SNP C C G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 1 46746843 46746843 C G SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known silent c.1710 p.G570 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 84 0 0 40 18 31.0345 GBP4 0 genome.wustl.edu 37 1 89657071 89657071 + Silent SNP A A G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 1 89657071 89657071 A G SNP GBP4 ENST00000355754 human ensembl 74_37 -1 known silent c.789 p.H263 0.002 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP4 HGNC ENSG00000162654 115 0 0 61 16 20.7792 C10orf2 0 genome.wustl.edu 37 10 102748044 102748044 + Missense_Mutation SNP G G C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 10 102748044 102748044 G C SNP C10orf2 ENST00000311916 human ensembl 74_37 +1 known missense c.77 p.G26A 1.000 NULL pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 136 0 0 66 21 24.1379 NCOA4 0 genome.wustl.edu 37 10 51580946 51580946 + Nonsense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 10 51580946 51580946 C T SNP NCOA4 ENST00000452682 human ensembl 74_37 +1 known nonsense c.397 p.Q133* 1.000 pfam_ARA70 pfam_ARA70 - no_errors NCOA4 HGNC ENSG00000138293 61 0 0 34 16 32 ATM 0 genome.wustl.edu 37 11 108121429 108121429 + Missense_Mutation SNP C C A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 11 108121429 108121429 C A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.1237 p.L413I 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 106 0 0 60 10 14.2857 MICALCL 0 genome.wustl.edu 37 11 12315180 12315180 + Missense_Mutation SNP C C G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 11 12315180 12315180 C G SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.202 p.R68G 0.003 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 376 0 0 197 25 11.2613 NTM 0 genome.wustl.edu 37 11 132016184 132016184 + Missense_Mutation SNP T T G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 11 132016184 132016184 T G SNP NTM ENST00000539799 human ensembl 74_37 +1 known missense c.176 p.I59S 1.000 pfam_Ig_I-set,pfam_Ig_V-set,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 NTM HGNC ENSG00000182667 52 0 0 30 13 30.2326 QSER1 0 genome.wustl.edu 37 11 32956285 32956285 + Missense_Mutation SNP A A T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 11 32956285 32956285 A T SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known missense c.3094 p.S1032C 0.026 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 100 0 0 41 37 47.4359 OR4C15 0 genome.wustl.edu 37 11 55322539 55322539 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 11 55322539 55322539 G A SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.757 p.V253I 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 84 0 0 55 4 6.77966 TNKS1BP1 0 genome.wustl.edu 37 11 57077351 57077351 + Missense_Mutation SNP G G C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 11 57077351 57077351 G C SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.2834 p.A945G 0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 288 0 0 134 20 12.987 GANAB 0 genome.wustl.edu 37 11 62400952 62400952 + Missense_Mutation SNP C C G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 11 62400952 62400952 C G SNP GANAB ENST00000346178 human ensembl 74_37 -1 known missense c.661 p.A221P 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 164 0 0 61 15 19.7368 FAM86C2P 0 genome.wustl.edu 37 11 67564181 67564181 + RNA SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 11 67564181 67564181 G A SNP FAM86C2P ENST00000525180 human ensembl 74_37 -1 known rna NULL NULL 0.867 - - - no_errors FAM86C2P HGNC ENSG00000160172 167 0 0 80 5 5.88235 TYR 0 genome.wustl.edu 37 11 89028354 89028354 + Missense_Mutation SNP A A C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 11 89028354 89028354 A C SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.1410 p.Q470H 1.000 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 68 0 0 54 12 18.1818 ZNF143 0 genome.wustl.edu 37 11 9534124 9534124 + Missense_Mutation SNP C C A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 11 9534124 9534124 C A SNP ZNF143 ENST00000396602 human ensembl 74_37 +1 known missense c.1505 p.S502Y 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 143 0 0 72 30 29.4118 ASCL1 0 genome.wustl.edu 37 12 103352565 103352565 + Silent SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 12 103352565 103352565 C T SNP ASCL1 ENST00000266744 human ensembl 74_37 +1 known silent c.543 p.S181 1.000 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL1 HGNC ENSG00000139352 92 0 0 58 6 9.375 GABARAPL1 0 genome.wustl.edu 37 12 10373115 10373115 + Silent SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 12 10373115 10373115 C T SNP GABARAPL1 ENST00000266458 human ensembl 74_37 +1 known silent c.246 p.N82 1.000 pfam_Atg8_fam,pfam_Atg12 pfam_Atg8_fam,pfam_Atg12 - no_errors GABARAPL1 HGNC ENSG00000139112 96 0 0 77 12 13.4831 KLRC3 0 genome.wustl.edu 37 12 10573147 10573147 + Missense_Mutation SNP C C A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 12 10573147 10573147 C A SNP KLRC3 ENST00000381903 human ensembl 74_37 -1 known missense c.3 p.M1I 0.603 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC3 HGNC ENSG00000205810 78 0 0 62 19 23.4568 ENSG00000255641 0 genome.wustl.edu 37 12 10588583 10588583 + Missense_Mutation SNP C C A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 12 10588583 10588583 C A SNP ENSG00000255641 ENST00000539033 human ensembl 74_37 -1 known missense c.3 p.M1I 0.879 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors NKG2-E Uniprot_gn ENSG00000255641 192 0 0 139 22 13.6646 POLR3B 0 genome.wustl.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 12 106820987 106820987 C T SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known missense c.1114 p.L372F 1.000 pfam_RNA_pol_bsu_protrusion pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 23 0 0 24 11 31.4286 ACACB 0 genome.wustl.edu 37 12 109680320 109680320 + Missense_Mutation SNP C C G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 12 109680320 109680320 C G SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.5101 p.L1701V 0.998 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 141 0 0 81 12 12.9032 PLA2G1B 0 genome.wustl.edu 37 12 120763699 120763699 + Missense_Mutation SNP C C A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 12 120763699 120763699 C A SNP PLA2G1B ENST00000308366 human ensembl 74_37 -1 known missense c.159 p.L53F 0.998 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G1B HGNC ENSG00000170890 261 0 0 132 35 20.9581 BICD1 0 genome.wustl.edu 37 12 32481286 32481286 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 12 32481286 32481286 C T SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.1897 p.R633W 0.983 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 182 0 0 85 64 42.953 RPAP3 0 genome.wustl.edu 37 12 48091496 48091496 + Missense_Mutation SNP T T C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 12 48091496 48091496 T C SNP RPAP3 ENST00000005386 human ensembl 74_37 -1 known missense c.301 p.I101V 0.998 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors RPAP3 HGNC ENSG00000005175 99 0 0 69 30 30.303 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 147 0 0 38 30 44.1176 RDH16 0 genome.wustl.edu 37 12 57348759 57348759 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 12 57348759 57348759 C T SNP RDH16 ENST00000398138 human ensembl 74_37 -1 known missense c.503 p.R168Q 0.984 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH16 HGNC ENSG00000139547 106 1 0.934579 62 14 18.4211 TSPAN31 0 genome.wustl.edu 37 12 58139600 58139600 + Missense_Mutation SNP A A G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 12 58139600 58139600 A G SNP TSPAN31 ENST00000257910 human ensembl 74_37 +1 known missense c.136 p.I46V 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,prints_Tetraspanin - no_errors TSPAN31 HGNC ENSG00000135452 168 0 0 69 31 31 VWF 0 genome.wustl.edu 37 12 6232000 6232000 + Silent SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 12 6232000 6232000 G A SNP VWF ENST00000572068 human ensembl 74_37 -1 known silent c.57 p.F19 0.000 NULL pfam_VWF_type-D,smart_VWF_type-D - no_errors VWF HGNC ENSG00000110799 116 0 0 45 41 47.6744 SERPINE3 0 genome.wustl.edu 37 13 51921358 51921358 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 13 51921358 51921358 G A SNP SERPINE3 ENST00000521255 human ensembl 74_37 +1 known missense c.688 p.E230K 0.995 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE3 HGNC ENSG00000253309 43 0 0 24 4 14.2857 COMMD6 0 genome.wustl.edu 37 13 76111694 76111694 + RNA SNP G G C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 13 76111694 76111694 G C SNP COMMD6 ENST00000471682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC ENSG00000188243 25 0 0 6 21 77.7778 SLITRK1 0 genome.wustl.edu 37 13 84454740 84454740 + Silent SNP T T C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 13 84454740 84454740 T C SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known silent c.903 p.P301 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 55 0 0 68 6 8.10811 KIF26A 0 genome.wustl.edu 37 14 104624226 104624226 + Silent SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 14 104624226 104624226 G A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known silent c.870 p.P290 0.116 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 40 0 0 10 6 37.5 PLEKHH1 0 genome.wustl.edu 37 14 68042574 68042574 + Missense_Mutation SNP A A G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 14 68042574 68042574 A G SNP PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known missense c.2204 p.H735R 0.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 54 0 0 33 4 10.8108 GABRA5 0 genome.wustl.edu 37 15 27128531 27128531 + Missense_Mutation SNP G G T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 15 27128531 27128531 G T SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known missense c.324 p.R108S 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 208 0 0 39 58 59.7938 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 89 0 0 32 36 52.9412 LINGO1 0 genome.wustl.edu 37 15 77907869 77907869 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 15 77907869 77907869 C T SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.380 p.R127H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 54 0 0 39 6 13.3333 ACSBG1 0 genome.wustl.edu 37 15 78526816 78526816 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 15 78526816 78526816 C T SNP ACSBG1 ENST00000258873 human ensembl 74_37 -1 known missense c.28 p.G10S 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 385 0 0 104 63 37.7246 KSR1 0 genome.wustl.edu 37 17 25924413 25924413 + Silent SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 17 25924413 25924413 G A SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known silent c.1419 p.T473 0.449 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 57 0 0 32 4 11.1111 JUP 0 genome.wustl.edu 37 17 39919515 39919515 + Missense_Mutation SNP T T C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 17 39919515 39919515 T C SNP JUP ENST00000310706 human ensembl 74_37 -1 known missense c.1217 p.N406S 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 118 0 0 32 22 40.7407 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 55 0 0 14 8 36.3636 ALYREF 0 genome.wustl.edu 37 17 79846121 79846121 + Missense_Mutation SNP G G C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 17 79846121 79846121 G C SNP ALYREF ENST00000505490 human ensembl 74_37 -1 known missense c.776 p.A259G 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ALYREF HGNC ENSG00000183684 48 0 0 31 19 38 DTNA 0 genome.wustl.edu 37 18 32398276 32398276 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 18 32398276 32398276 G A SNP DTNA ENST00000269190 human ensembl 74_37 +1 known missense c.858 p.M286I 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC ENSG00000134769 43 0 0 26 11 29.7297 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 60 0 0 4 16 80 NPHS1 0 genome.wustl.edu 37 19 36336437 36336437 + Missense_Mutation SNP T T C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 19 36336437 36336437 T C SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.1763 p.E588G 0.908 pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 32 0 0 12 10 45.4545 TMEM91 0 genome.wustl.edu 37 19 41888765 41888765 + Missense_Mutation SNP T T C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 19 41888765 41888765 T C SNP TMEM91 ENST00000392002 human ensembl 74_37 +1 known missense c.299 p.V100A 0.998 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors TMEM91 HGNC ENSG00000142046 1116 0 0 529 55 9.41781 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 226 1 0.440529 78 32 29.0909 DBP 0 genome.wustl.edu 37 19 49136834 49136834 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 19 49136834 49136834 G A SNP DBP ENST00000222122 human ensembl 74_37 -1 known missense c.629 p.A210V 0.960 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors DBP HGNC ENSG00000105516 242 0 0 80 57 41.6058 SHANK1 0 genome.wustl.edu 37 19 51192535 51192535 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 19 51192535 51192535 C T SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.1966 p.D656N 1.000 superfamily_PDZ pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 155 0 0 51 16 23.8806 SIGLEC10 0 genome.wustl.edu 37 19 51918541 51918541 + Silent SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 19 51918541 51918541 C T SNP SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known silent c.1224 p.G408 0.999 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 107 0 0 64 19 22.8916 NLRP7 0 genome.wustl.edu 37 19 55451653 55451653 + Silent SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 19 55451653 55451653 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.618 p.G206 0.001 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 212 0 0 139 31 18.2353 NLRP13 0 genome.wustl.edu 37 19 56419268 56419268 + Missense_Mutation SNP C C A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 19 56419268 56419268 C A SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.2337 p.Q779H 0.005 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 219 0 0 55 62 52.9915 ZNF551 0 genome.wustl.edu 37 19 58199305 58199305 + Silent SNP T T A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 19 58199305 58199305 T A SNP ZNF551 ENST00000282296 human ensembl 74_37 +1 known silent c.1662 p.T554 0.987 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 ZNF551 HGNC ENSG00000204519 118 0 0 105 9 7.89474 CCDC74B 0 genome.wustl.edu 37 2 130897234 130897234 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 2 130897234 130897234 C T SNP CCDC74B ENST00000392984 human ensembl 74_37 -1 known missense c.1343 p.R448H 0.382 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 39 0 0 15 3 16.6667 ITGA6 0 genome.wustl.edu 37 2 173335747 173335747 + Missense_Mutation SNP A A C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 2 173335747 173335747 A C SNP ITGA6 ENST00000264106 human ensembl 74_37 +1 known missense c.689 p.N230T 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 100 0 0 69 7 9.21053 TTN 0 genome.wustl.edu 37 2 179634421 179634421 + Missense_Mutation SNP T T G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 2 179634421 179634421 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.8887 p.T2963P 1.000 superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 105 1 0.943396 33 54 62.069 DOCK10 0 genome.wustl.edu 37 2 225714253 225714253 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 2 225714253 225714253 G A SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.2206 p.H736Y 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 24 0 0 8 9 52.9412 COL6A3 0 genome.wustl.edu 37 2 238303388 238303388 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 2 238303388 238303388 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.551 p.A184V 0.983 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 112 0 0 103 6 5.50459 SOS1 0 genome.wustl.edu 37 2 39213093 39213093 + Missense_Mutation SNP C C A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 2 39213093 39213093 C A SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known missense c.3874 p.V1292F 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 234 0 0 149 14 8.58896 FAM110C 0 genome.wustl.edu 37 2 41585 41585 + RNA SNP T T A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 2 41585 41585 T A SNP FAM110C ENST00000460464 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM110C HGNC ENSG00000184731 141 0 0 69 27 28.125 ADAM17 0 genome.wustl.edu 37 2 9676834 9676834 + Silent SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 2 9676834 9676834 G A SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known silent c.354 p.H118 0.997 pfam_Peptidase_M12B_N pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 150 0 0 58 15 20.5479 HCK 0 genome.wustl.edu 37 20 30671747 30671747 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 20 30671747 30671747 G A SNP HCK ENST00000375852 human ensembl 74_37 +1 known missense c.583 p.V195M 0.994 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 155 1 0.641026 47 75 61.4754 NPEPL1 0 genome.wustl.edu 37 20 57269511 57269511 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 20 57269511 57269511 G A SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known missense c.370 p.A124T 0.892 NULL pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 195 0 0 95 35 26.9231 BHLHE23 0 genome.wustl.edu 37 20 61637750 61637750 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 20 61637750 61637750 C T SNP BHLHE23 ENST00000370346 human ensembl 74_37 -1 known missense c.329 p.R110Q 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE23 HGNC ENSG00000125533 20 0 0 12 6 33.3333 CHRNA4 0 genome.wustl.edu 37 20 61981757 61981757 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 20 61981757 61981757 G A SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known missense c.1006 p.R336C 0.995 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 138 0 0 63 38 37.6238 TPTE 0 genome.wustl.edu 37 21 10934966 10934966 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 21 10934966 10934966 C T SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.827 p.R276Q 0.567 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 179 0 0 173 23 11.7347 APP 0 genome.wustl.edu 37 21 27254029 27254029 + Silent SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 21 27254029 27254029 G A SNP APP ENST00000346798 human ensembl 74_37 -1 known silent c.2265 p.N755 0.990 pfam_APP_amyloid_C,prints_Amyloid_glyco pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 167 0 0 55 5 8.33333 ADAMTS1 0 genome.wustl.edu 37 21 28214836 28214836 + Missense_Mutation SNP T T C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 21 28214836 28214836 T C SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.899 p.N300S 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 62 0 0 41 17 29.3103 OR11H1 0 genome.wustl.edu 37 22 16449180 16449180 + Silent SNP T T G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 22 16449180 16449180 T G SNP OR11H1 ENST00000252835 human ensembl 74_37 -1 known silent c.625 p.R209 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H1 HGNC ENSG00000130538 60 0 0 36 6 14.2857 HMOX1 0 genome.wustl.edu 37 22 35789509 35789509 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 22 35789509 35789509 G A SNP HMOX1 ENST00000216117 human ensembl 74_37 +1 known missense c.785 p.R262H 0.000 pirsf_Haem_Oase pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX1 HGNC ENSG00000100292 359 0 0 162 42 20.5882 APOBEC3H 0 genome.wustl.edu 37 22 39498015 39498015 + Missense_Mutation SNP C C G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 22 39498015 39498015 C G SNP APOBEC3H ENST00000442487 human ensembl 74_37 +1 known missense c.511 p.R171G 0.000 pfam_APOBEC_C pfam_APOBEC_N,pfam_APOBEC_C,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors APOBEC3H HGNC ENSG00000100298 119 1 0.833333 34 22 39.2857 HPS3 0 genome.wustl.edu 37 3 148889990 148889990 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 3 148889990 148889990 G A SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known missense c.2996 p.R999Q 0.984 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 38 0 0 42 9 17.6471 GPR149 0 genome.wustl.edu 37 3 154139263 154139263 + Silent SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 3 154139263 154139263 G A SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known silent c.1188 p.G396 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 16 0 0 25 16 39.0244 TMPPE 0 genome.wustl.edu 37 3 33135527 33135527 + Missense_Mutation SNP G G C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 3 33135527 33135527 G C SNP TMPPE ENST00000342462 human ensembl 74_37 -1 known missense c.161 p.S54W 0.997 NULL pfam_PEstase_dom - no_errors TMPPE HGNC ENSG00000188167 59 0 0 37 5 11.9048 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 255 0 0 64 13 16.8831 EGF 0 genome.wustl.edu 37 4 110882065 110882065 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 4 110882065 110882065 G A SNP EGF ENST00000265171 human ensembl 74_37 +1 known missense c.1109 p.G370E 0.997 pirsf_Pro-epidermal_GF,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 62 0 0 33 7 17.5 DCHS2 0 genome.wustl.edu 37 4 155254019 155254019 + Missense_Mutation SNP T T C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 4 155254019 155254019 T C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.1844 p.Q615R 0.001 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 49 0 0 30 16 34.7826 LETM1 0 genome.wustl.edu 37 4 1843118 1843118 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 4 1843118 1843118 G A SNP LETM1 ENST00000302787 human ensembl 74_37 -1 known missense c.550 p.R184C 1.000 pfam_LETM1 pfam_LETM1,pfscan_EF_hand_dom - no_errors LETM1 HGNC ENSG00000168924 59 0 0 25 10 28.5714 WDFY3 0 genome.wustl.edu 37 4 85701357 85701357 + Silent SNP A A G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 4 85701357 85701357 A G SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.4269 p.D1423 0.999 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 168 0 0 88 34 27.8689 SLC26A1 0 genome.wustl.edu 37 4 983161 983161 + Silent SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 4 983161 983161 G A SNP SLC26A1 ENST00000361661 human ensembl 74_37 -1 known silent c.1566 p.Y522 1.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 14 0 0 6 3 33.3333 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 181 0 0 52 49 48.5149 PCDHGA4 0 genome.wustl.edu 37 5 140736646 140736646 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 5 140736646 140736646 C T SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.1879 p.R627C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 94 0 0 20 40 66.6667 PDGFRB 0 genome.wustl.edu 37 5 149505106 149505106 + Missense_Mutation SNP T T G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 5 149505106 149505106 T G SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known missense c.1709 p.E570A 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 156 0 0 62 10 13.8889 FNDC9 0 genome.wustl.edu 37 5 156770404 156770404 + Silent SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 5 156770404 156770404 G A SNP FNDC9 ENST00000312349 human ensembl 74_37 -1 known silent c.141 p.S47 1.000 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors FNDC9 HGNC ENSG00000172568 130 0 0 32 54 62.7907 GABRA1 0 genome.wustl.edu 37 5 161300176 161300176 + Missense_Mutation SNP A A C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 5 161300176 161300176 A C SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.309 p.K103N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 174 0 0 31 79 71.8182 FOXI1 0 genome.wustl.edu 37 5 169535494 169535494 + Missense_Mutation SNP A A C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 5 169535494 169535494 A C SNP FOXI1 ENST00000306268 human ensembl 74_37 +1 known missense c.1016 p.N339T 0.985 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 118 0 0 31 43 58.1081 FOXI1 0 genome.wustl.edu 37 5 169535495 169535495 + Missense_Mutation SNP C C A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 5 169535495 169535495 C A SNP FOXI1 ENST00000306268 human ensembl 74_37 +1 known missense c.1017 p.N339K 0.984 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 118 0 0 31 45 59.2105 SLC45A2 0 genome.wustl.edu 37 5 33951681 33951681 + Silent SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 5 33951681 33951681 G A SNP SLC45A2 ENST00000296589 human ensembl 74_37 -1 known silent c.1134 p.S378 0.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 212 0 0 53 74 58.2677 IL31RA 0 genome.wustl.edu 37 5 55203251 55203251 + Silent SNP C C G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 5 55203251 55203251 C G SNP IL31RA ENST00000447346 human ensembl 74_37 +1 known silent c.1317 p.G439 0.538 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 89 0 0 39 7 15.2174 TMEM171 0 genome.wustl.edu 37 5 72419284 72419284 + Silent SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 5 72419284 72419284 C T SNP TMEM171 ENST00000454765 human ensembl 74_37 +1 known silent c.84 p.F28 0.999 NULL NULL - no_errors TMEM171 HGNC ENSG00000157111 149 0 0 27 55 67.0732 KIAA1244 0 genome.wustl.edu 37 6 138617959 138617959 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 6 138617959 138617959 C T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.3515 p.S1172F 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 237 0 0 134 11 7.58621 ECT2L 0 genome.wustl.edu 37 6 139170460 139170460 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 6 139170460 139170460 G A SNP ECT2L ENST00000367682 human ensembl 74_37 +1 known missense c.958 p.V320I 0.011 NULL pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 179 0 0 75 12 13.7931 SHPRH 0 genome.wustl.edu 37 6 146214432 146214432 + Missense_Mutation SNP T T C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 6 146214432 146214432 T C SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.4805 p.H1602R 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 62 0 0 44 6 12 RAET1K 0 genome.wustl.edu 37 6 150322612 150322612 + RNA SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 6 150322612 150322612 G A SNP RAET1K ENST00000533735 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors RAET1K HGNC ENSG00000218358 85 0 0 18 10 35.7143 PDE10A 0 genome.wustl.edu 37 6 165809927 165809927 + Missense_Mutation SNP A A G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 6 165809927 165809927 A G SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.1300 p.S434P 0.999 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 175 0 0 78 10 11.3636 SLC17A1 0 genome.wustl.edu 37 6 25813353 25813353 + Silent SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 6 25813353 25813353 C T SNP SLC17A1 ENST00000244527 human ensembl 74_37 -1 known silent c.705 p.K235 0.930 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt - no_errors SLC17A1 HGNC ENSG00000124568 123 0 0 68 22 24.4444 PRRC2A 0 genome.wustl.edu 37 6 31605358 31605358 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 6 31605358 31605358 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.6469 p.R2157C 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 73 0 0 26 11 29.7297 C4B 0 genome.wustl.edu 37 6 31996297 31996297 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 6 31996297 31996297 G A SNP C4B ENST00000435363 human ensembl 74_37 +1 known missense c.3218 p.G1073D 0.060 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_comp_syst,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C4B HGNC ENSG00000224389 142 0 0 33 3 8.33333 PIM1 0 genome.wustl.edu 37 6 37139029 37139029 + Silent SNP C C G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 6 37139029 37139029 C G SNP PIM1 ENST00000373509 human ensembl 74_37 +1 known silent c.369 p.P123 0.976 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PIM1 HGNC ENSG00000137193 342 0 0 184 18 8.91089 MCM3 0 genome.wustl.edu 37 6 52137104 52137104 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 6 52137104 52137104 C T SNP MCM3 ENST00000596288 human ensembl 74_37 -1 known missense c.1957 p.A653T 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3 - no_errors MCM3 HGNC ENSG00000112118 129 0 0 62 16 20.5128 BAI3 0 genome.wustl.edu 37 6 70049284 70049284 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 6 70049284 70049284 C T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.3347 p.A1116V 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 245 0 0 93 67 41.875 FILIP1 0 genome.wustl.edu 37 6 76023075 76023075 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 6 76023075 76023075 G A SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.2473 p.R825W 0.680 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 361 1 0.276243 149 109 42.2481 MDN1 0 genome.wustl.edu 37 6 90387382 90387382 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 6 90387382 90387382 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.12446 p.R4149H 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 179 1 0.555556 111 14 11.2 FUT9 0 genome.wustl.edu 37 6 96651315 96651315 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 6 96651315 96651315 C T SNP FUT9 ENST00000302103 human ensembl 74_37 +1 known missense c.284 p.T95M 0.917 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 111 0 0 83 5 5.68182 SLC37A3 0 genome.wustl.edu 37 7 140045671 140045671 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 7 140045671 140045671 C T SNP SLC37A3 ENST00000326232 human ensembl 74_37 -1 known missense c.1124 p.S375N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A3 HGNC ENSG00000157800 173 0 0 80 27 25.2336 PRSS3P2 0 genome.wustl.edu 37 7 142479940 142479940 + RNA SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 7 142479940 142479940 C T SNP PRSS3P2 ENST00000603901 human ensembl 74_37 +1 known rna NULL NULL 0.933 - - - no_errors PRSS3P2 HGNC ENSG00000250606 71 0 0 52 7 11.8644 NOM1 0 genome.wustl.edu 37 7 156755738 156755738 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 7 156755738 156755738 C T SNP NOM1 ENST00000275820 human ensembl 74_37 +1 known missense c.1780 p.R594C 1.000 NULL pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 54 0 0 27 13 32.5 SOSTDC1 0 genome.wustl.edu 37 7 16502239 16502239 + Silent SNP G G T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 7 16502239 16502239 G T SNP SOSTDC1 ENST00000307068 human ensembl 74_37 -1 known silent c.555 p.A185 0.998 pfam_Sclerostin/SOSTDC1 pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfam_DAN,pfscan_Cys_knot_C - no_errors SOSTDC1 HGNC ENSG00000171243 198 1 0.502513 122 34 21.7949 SP8 0 genome.wustl.edu 37 7 20824781 20824781 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 7 20824781 20824781 C T SNP SP8 ENST00000418710 human ensembl 74_37 -1 known missense c.655 p.E219K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 23 0 0 6 3 33.3333 PLEKHA8 0 genome.wustl.edu 37 7 30113706 30113706 + Silent SNP A A G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 7 30113706 30113706 A G SNP PLEKHA8 ENST00000449726 human ensembl 74_37 +1 known silent c.1320 p.T440 0.015 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC ENSG00000106086 76 0 0 33 3 8.33333 ABCA13 0 genome.wustl.edu 37 7 48312083 48312083 + Missense_Mutation SNP A A C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 7 48312083 48312083 A C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.2820 p.E940D 0.003 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 101 0 0 45 18 28.5714 ZDHHC4 0 genome.wustl.edu 37 7 6623050 6623050 + Missense_Mutation SNP T T A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 7 6623050 6623050 T A SNP ZDHHC4 ENST00000335965 human ensembl 74_37 +1 known missense c.484 p.S162T 0.991 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC4 HGNC ENSG00000136247 60 0 0 31 17 35.4167 PMS2CL 0 genome.wustl.edu 37 7 6785797 6785797 + RNA SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 7 6785797 6785797 C T SNP PMS2CL ENST00000431453 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PMS2CL HGNC ENSG00000187953 24 0 0 9 4 30.7692 PEG10 0 genome.wustl.edu 37 7 94293259 94293259 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 7 94293259 94293259 C T SNP PEG10 ENST00000482108 human ensembl 74_37 +1 known missense c.391 p.R131C 0.674 pfam_Retrotrans_gag_dom pfam_Retrotrans_gag_dom,superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PEG10 HGNC ENSG00000242265 122 0 0 85 71 45.5128 DENND3 0 genome.wustl.edu 37 8 142165949 142165949 + Missense_Mutation SNP A A T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 8 142165949 142165949 A T SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.836 p.E279V 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 122 0 0 78 5 6.0241 CYC1 0 genome.wustl.edu 37 8 145150852 145150852 + Silent SNP G G C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 8 145150852 145150852 G C SNP CYC1 ENST00000318911 human ensembl 74_37 +1 known silent c.246 p.V82 0.904 NULL pfam_Cyt_c1,superfamily_Cyt_c-like_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC ENSG00000179091 104 0 0 54 36 40 RPS20 0 genome.wustl.edu 37 8 56986648 56986648 + Missense_Mutation SNP G G T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 8 56986648 56986648 G T SNP RPS20 ENST00000009589 human ensembl 74_37 -1 known missense c.74 p.T25K 1.000 pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom,prints_Ribosomal_S10,tigrfam_Ribosomal_S10_euk/arc pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom,prints_Ribosomal_S10,tigrfam_Ribosomal_S10_euk/arc - no_errors RPS20 HGNC ENSG00000008988 168 1 0.591716 77 48 38.4 XPA 0 genome.wustl.edu 37 9 100447318 100447318 + Missense_Mutation SNP A A G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 9 100447318 100447318 A G SNP XPA ENST00000375128 human ensembl 74_37 -1 known missense c.560 p.V187A 1.000 superfamily_DNA-bd_dom_put,tigrfam_XPA pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA - no_errors XPA HGNC ENSG00000136936 51 0 0 31 20 39.2157 BSPRY 0 genome.wustl.edu 37 9 116132139 116132139 + Missense_Mutation SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 9 116132139 116132139 G A SNP BSPRY ENST00000374183 human ensembl 74_37 +1 known missense c.926 p.R309H 1.000 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_B-box,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors BSPRY HGNC ENSG00000119411 100 0 0 56 3 5.08475 PTRH1 0 genome.wustl.edu 37 9 130478571 130478571 + RNA SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 9 130478571 130478571 G A SNP PTRH1 ENST00000429848 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PTRH1 HGNC ENSG00000187024 22 0 0 17 8 32 ZER1 0 genome.wustl.edu 37 9 131517699 131517699 + Missense_Mutation SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 9 131517699 131517699 C T SNP ZER1 ENST00000291900 human ensembl 74_37 -1 known missense c.146 p.R49Q 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 369 0 0 72 56 43.75 NPR2 0 genome.wustl.edu 37 9 35792588 35792588 + Silent SNP C C T TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 9 35792588 35792588 C T SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known silent c.183 p.P61 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 85 0 0 61 14 18.6667 TJP2 0 genome.wustl.edu 37 9 71852827 71852827 + Missense_Mutation SNP C C G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 9 71852827 71852827 C G SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known missense c.2306 p.P769R 1.000 smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 74 0 0 27 27 50 PCSK5 0 genome.wustl.edu 37 9 78711019 78711019 + Splice_Site SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 9 78711019 78711019 G A SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known splice_site c.1107+1 e8+1 1.000 - - - no_errors PCSK5 HGNC ENSG00000099139 39 0 0 23 8 25.8065 PRUNE2 0 genome.wustl.edu 37 9 79322403 79322403 + Missense_Mutation SNP A A G TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 9 79322403 79322403 A G SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.3710 p.V1237A 0.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 70 0 0 40 10 20 DCAF8L1 0 genome.wustl.edu 37 X 27998138 27998138 + Silent SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 X 27998138 27998138 G A SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known silent c.1314 p.D438 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 33 0 0 33 8 19.5122 NLGN4X 0 genome.wustl.edu 37 X 5821348 5821348 + Silent SNP G G A TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 X 5821348 5821348 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known silent c.1431 p.A477 0.004 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 34 0 0 13 54 80.597 CCPG1 0 genome.wustl.edu 37 15 55657471 55657474 + Frame_Shift_Del DEL CTGA CTGA - TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 CTGA CTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 15 55657471 55657474 CTGA - DEL CCPG1 ENST00000310958 human ensembl 74_37 -1 known frame_shift_del c.743_740 p.V247fs 0.966:0.969:0.969:0.993 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 252 0 0 135 12 8.16327 ZNF626 0 genome.wustl.edu 37 19 20808112 20808116 + Frame_Shift_Del DEL GTGTA GTGTA - TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 GTGTA GTGTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 19 20808112 20808116 GTGTA - DEL ZNF626 ENST00000601440 human ensembl 74_37 -1 known frame_shift_del c.571_567 p.T190fs 0.970:0.106:0.063:0.051:0.048 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 ZNF626 HGNC ENSG00000188171 83 0 0 75 15 16.6667 FKBP7 0 genome.wustl.edu 37 2 179330469 179330469 + RNA DEL A A - TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 2 179330469 179330469 A - DEL FKBP7 ENST00000464248 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FKBP7 HGNC ENSG00000079150 34 0 0 35 5 12.5 LINC00471 0 genome.wustl.edu 37 2 232373610 232373610 + RNA DEL A A - TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 2 232373610 232373610 A - DEL LINC00471 ENST00000313064 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors LINC00471 HGNC ENSG00000181798 8 0 0 6 4 40 CTNNB1 0 genome.wustl.edu 37 3 41266123 41266143 + In_Frame_Del DEL TACCACAGCTCCTTCTCTGAG TACCACAGCTCCTTCTCTGAG - TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 TACCACAGCTCCTTCTCTGAG TACCACAGCTCCTTCTCTGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 3 41266123 41266143 TACCACAGCTCCTTCTCTGAG - DEL CTNNB1 ENST00000349496 human ensembl 74_37 +1 known in_frame_del c.120_140 p.TTAPSLS41in_frame_del 0.465:1.000:1.000:0.999:1.000:1.000:0.982:1.000:1.000:0.599:1.000:1.000:0.985:1.000:1.000:0.992:1.000:1.000:0.998:1.000:1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 71 0 0 29 10 25.641 VEGFC 0 genome.wustl.edu 37 4 177713373 177713375 + In_Frame_Del DEL GGC GGC - TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 4 177713373 177713375 GGC - DEL VEGFC ENST00000280193 human ensembl 74_37 -1 known in_frame_del c.93_91 p.A31in_frame_del 0.984:0.999:1.000 NULL pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 43 0 0 13 2 13.3333 PCMTD1 0 genome.wustl.edu 37 8 52732893 52732894 + RNA INS - - C TCGA-D7-8573-01A-11D-2340-08 TCGA-D7-8573-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d708deec-6b8e-4d4b-ab32-3bbb564038a9 1c3ae5aa-6b14-4794-9910-435917bdf4d4 8 52732893 52732894 - C INS PCMTD1 ENST00000519559 human ensembl 74_37 -1 known rna NULL NULL 0.206:0.021 - - - no_errors PCMTD1 HGNC ENSG00000168300 31 0 0 30 5 14.2857