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 ABCB1 0 genome.wustl.edu 37 7 87225104 87225104 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 87225104 87225104 G T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.95 p.P32Q 1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 tier1 - - 91 0 0.00 85 7 7.61 ADAM21P1 0 genome.wustl.edu 37 14 70713986 70713986 + RNA DEL C C - TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 14 70713986 70713986 C - DEL ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.553 - - - no_errors ADAM21P1 HGNC ENSG00000235812 tier1 131 0 0.00 108 11 9.24 AFF2 0 genome.wustl.edu 37 X 148044423 148044423 + Missense_Mutation SNP A A C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef X 148044423 148044423 A C SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.2869 p.T957P 0.899 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 93 0 0.00 43 32 42.67 AGAP3 0 genome.wustl.edu 37 7 150835321 150835321 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 150835321 150835321 C A SNP AGAP3 ENST00000397238 human ensembl 74_37 +1 known missense c.1587 p.H529Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 tier1 - - 56 0 0.00 47 11 18.97 AGBL1 0 genome.wustl.edu 37 15 86807659 86807659 + Silent SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 15 86807659 86807659 G T SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known silent c.1119 p.V373 0.921 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 - - 47 0 0.00 57 9 13.64 AGMAT 0 genome.wustl.edu 37 1 15911273 15911273 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 15911273 15911273 C A SNP AGMAT ENST00000375826 human ensembl 74_37 -1 known missense c.190 p.V64L 0.041 NULL pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ENSG00000116771 tier1 - - 10 0 0.00 10 5 33.33 ANKRD30BL 0 genome.wustl.edu 37 2 133015299 133015299 + RNA SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 133015299 133015299 C T SNP ANKRD30BL ENST00000470729 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors ANKRD30BL HGNC ENSG00000163046 tier1 rs79554046 - 13 0 0.00 9 7 43.75 ANKRD30BL 0 genome.wustl.edu 37 2 133015314 133015314 + RNA SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 133015314 133015314 G A SNP ANKRD30BL ENST00000470729 human ensembl 74_37 -1 known rna NULL NULL 0.071 - - - no_errors ANKRD30BL HGNC ENSG00000163046 tier1 rs112315337 - 9 0 0.00 8 7 46.67 ANKRD30BL 0 genome.wustl.edu 37 2 133015325 133015325 + RNA SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 133015325 133015325 G A SNP ANKRD30BL ENST00000470729 human ensembl 74_37 -1 known rna NULL NULL 0.126 - - - no_errors ANKRD30BL HGNC ENSG00000163046 tier1 rs111401445 - 11 0 0.00 10 5 33.33 ARAF 0 genome.wustl.edu 37 X 47429312 47429312 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef X 47429312 47429312 G T SNP ARAF ENST00000377045 human ensembl 74_37 +1 known missense c.1440 p.M480I 1.000 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 34 0 0.00 10 3 23.08 ARAF 0 genome.wustl.edu 37 X 47429313 47429313 + Nonsense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef X 47429313 47429313 C T SNP ARAF ENST00000377045 human ensembl 74_37 +1 known nonsense c.1441 p.Q481* 1.000 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 34 0 0.00 9 3 25.00 ARID1A 0 genome.wustl.edu 37 1 27058048 27058048 + Nonsense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 27058048 27058048 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.1756 p.Q586* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 370 0 0.00 130 104 44.44 ARMC4 0 genome.wustl.edu 37 10 28270418 28270418 + Missense_Mutation SNP A A C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 10 28270418 28270418 A C SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.913 p.F305V 0.991 superfamily_GSKIP_dom pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 tier1 - - 104 0 0.00 80 13 13.83 ATM 0 genome.wustl.edu 37 11 108196196 108196196 + Silent SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 11 108196196 108196196 A G SNP ATM ENST00000278616 human ensembl 74_37 +1 known silent c.6732 p.R2244 0.620 pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT 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 tier1 - - 128 0 0.00 97 7 6.73 BPIFB2 0 genome.wustl.edu 37 20 31606879 31606879 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 20 31606879 31606879 C A SNP BPIFB2 ENST00000170150 human ensembl 74_37 +1 known missense c.867 p.D289E 0.948 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC ENSG00000078898 tier1 - - 207 0 0.00 157 49 23.79 C2orf78 0 genome.wustl.edu 37 2 74043291 74043291 + Missense_Mutation SNP A A C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 74043291 74043291 A C SNP C2orf78 ENST00000409561 human ensembl 74_37 +1 novel missense c.1941 p.K647N 0.000 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 tier1 - - 94 0 0.00 61 35 36.46 C4orf26 0 genome.wustl.edu 37 4 76489417 76489417 + Nonsense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 4 76489417 76489417 C T SNP C4orf26 ENST00000435974 human ensembl 74_37 +1 putative nonsense c.205 p.R69* 0.036 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 tier1 - - 181 0 0.00 146 22 13.10 CDYL 0 genome.wustl.edu 37 6 4716083 4716083 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 6 4716083 4716083 C A SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.71 p.P24Q 0.000 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 tier1 - - 66 0 0.00 49 5 9.26 CDYL 0 genome.wustl.edu 37 6 4952584 4952584 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 6 4952584 4952584 G A SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.1579 p.G527R 0.999 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 tier1 - - 123 0 0.00 66 45 40.18 CHD9 0 genome.wustl.edu 37 16 53190619 53190619 + Silent SNP T T C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 53190619 53190619 T C SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known silent c.618 p.H206 0.877 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 tier1 - - 258 0 0.00 138 79 36.41 CHRM3 0 genome.wustl.edu 37 1 240071671 240071671 + Missense_Mutation SNP A A C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 240071671 240071671 A C SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known missense c.920 p.K307T 0.945 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 tier1 - - 76 0 0.00 69 31 31.00 CNTN6 0 genome.wustl.edu 37 3 1337472 1337472 + Silent SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 1337472 1337472 A G SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.642 p.L214 0.608 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 68 0 0.00 48 7 12.73 COL27A1 0 genome.wustl.edu 37 9 117062896 117062896 + RNA SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 9 117062896 117062896 C T SNP COL27A1 ENST00000494780 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL27A1 HGNC ENSG00000196739 tier1 - - 59 0 0.00 56 5 8.20 CSGALNACT1 0 genome.wustl.edu 37 8 19362917 19362917 + Nonsense_Mutation SNP A A T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 8 19362917 19362917 A T SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known nonsense c.429 p.Y143* 0.261 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 tier1 - - 120 0 0.00 135 18 11.76 CTAGE1 0 genome.wustl.edu 37 18 19995825 19995825 + Silent SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 18 19995825 19995825 G A SNP CTAGE1 ENST00000391403 human ensembl 74_37 -1 known silent c.1950 p.P650 0.390 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 tier1 - - 385 0 0.00 572 137 19.27 CTH 0 genome.wustl.edu 37 1 70899633 70899633 + Splice_Site SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 70899633 70899633 G T SNP CTH ENST00000370938 human ensembl 74_37 +1 known splice_site c.999+1 e9+1 1.000 - - - no_errors CTH HGNC ENSG00000116761 tier1 - - 58 0 0.00 52 17 24.64 CYP11B1 0 genome.wustl.edu 37 8 143961062 143961062 + Missense_Mutation SNP C C G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 8 143961062 143961062 C G SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.168 p.W56C 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 tier1 - - 106 0 0.00 94 30 24.19 DMD 0 genome.wustl.edu 37 X 32591740 32591740 + Silent SNP T T G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef X 32591740 32591740 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.1719 p.A573 0.125 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 tier1 - - 133 0 0.00 80 5 5.88 DUOXA2 0 genome.wustl.edu 37 15 45408874 45408874 + Silent SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 15 45408874 45408874 C T SNP DUOXA2 ENST00000323030 human ensembl 74_37 +1 known silent c.501 p.C167 0.996 pfam_Dual_oxidase_maturation_fac pfam_Dual_oxidase_maturation_fac - no_errors DUOXA2 HGNC ENSG00000140274 tier1 - - 91 0 0.00 77 19 19.79 DZIP1L 0 genome.wustl.edu 37 3 137781750 137781750 + Missense_Mutation SNP C C G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 137781750 137781750 C G SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.2212 p.E738Q 0.005 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 tier1 - - 119 0 0.00 88 12 11.88 ENSG00000161103 0 genome.wustl.edu 37 22 18842337 18842337 + RNA SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 22 18842337 18842337 G A SNP ENSG00000161103 ENST00000416498 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 tier1 - - 14 0 0.00 4 3 42.86 ENSG00000225411 0 genome.wustl.edu 37 9 68400239 68400239 + RNA SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 9 68400239 68400239 C A SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 rs113560765 - 18 0 0.00 13 4 23.53 ENSG00000234232 0 genome.wustl.edu 37 1 149719221 149719221 + RNA SNP G G C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 149719221 149719221 G C SNP ENSG00000234232 ENST00000608683 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-353N4.5 Clone_based_vega_gene ENSG00000234232 tier1 rs633047 - 9 0 0.00 2 4 66.67 ENSG00000263854 0 genome.wustl.edu 37 GL000224.1 47283 47283 + RNA SNP T T C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef GL000224.1 47283 47283 T C SNP ENSG00000263854 ENST00000584224 human ensembl 74_37 +1 novel rna NULL NULL NULL - - - no_errors AL591856.5 Clone_based_ensembl_gene ENSG00000263854 tier1 - - 13 0 0.00 3 4 57.14 ETNPPL 0 genome.wustl.edu 37 4 109664983 109664983 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 4 109664983 109664983 C T SNP ETNPPL ENST00000296486 human ensembl 74_37 -1 known missense c.1333 p.E445K 0.000 NULL pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors ETNPPL HGNC ENSG00000164089 tier1 - - 123 0 0.00 99 17 14.66 EZH1 0 genome.wustl.edu 37 17 40871153 40871153 + Missense_Mutation SNP T T C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 17 40871153 40871153 T C SNP EZH1 ENST00000428826 human ensembl 74_37 -1 known missense c.737 p.E246G 1.000 smart_SANT/Myb pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 tier1 - - 344 0 0.00 390 36 8.45 FAM111B 0 genome.wustl.edu 37 11 58892180 58892180 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 11 58892180 58892180 C A SNP FAM111B ENST00000343597 human ensembl 74_37 +1 known missense c.610 p.L204I 0.218 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 tier1 - - 104 0 0.00 111 6 5.13 FAM230C 0 genome.wustl.edu 37 22 21663552 21663552 + RNA SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 22 21663552 21663552 G A SNP FAM230C ENST00000436681 human ensembl 74_37 -1 known rna NULL NULL 0.187 - - - no_errors KB-1183D5.13 Clone_based_vega_gene ENSG00000206142 tier1 rs62236681 - 11 0 0.00 3 5 62.50 FLNB 0 genome.wustl.edu 37 3 58111404 58111404 + Missense_Mutation SNP A A T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 58111404 58111404 A T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.3995 p.Q1332L 0.019 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 tier1 - - 166 0 0.00 138 12 8.00 FOXP2 0 genome.wustl.edu 37 7 114282671 114282671 + Nonsense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 114282671 114282671 C T SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known nonsense c.1057 p.R353* 0.961 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 tier1 rs121908378 - 134 0 0.00 124 10 7.41 GAPDH 0 genome.wustl.edu 37 12 6646855 6646855 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 12 6646855 6646855 A G SNP GAPDH ENST00000229239 human ensembl 74_37 +1 known missense c.631 p.T211A 0.998 pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDH HGNC ENSG00000111640 tier1 - - 74 0 0.00 56 20 25.97 GAS2 0 genome.wustl.edu 37 11 22770786 22770786 + Silent SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 11 22770786 22770786 A G SNP GAS2 ENST00000278187 human ensembl 74_37 +1 known silent c.594 p.T198 0.990 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC ENSG00000148935 tier1 - - 113 0 0.00 81 6 6.90 GAS5 0 genome.wustl.edu 37 1 173833335 173833335 + RNA SNP T T A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 173833335 173833335 T A SNP GAS5 ENST00000363840 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors GAS5 HGNC ENSG00000234741 tier1 - - 57 0 0.00 62 20 24.39 GRID2 0 genome.wustl.edu 37 4 93225752 93225753 + RNA INS - - A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 4 93225752 93225753 - A INS GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors GRID2 HGNC ENSG00000152208 tier1 28 0 0.00 19 2 9.52 GRIPAP1 0 genome.wustl.edu 37 X 48839839 48839839 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef X 48839839 48839839 C T SNP GRIPAP1 ENST00000376441 human ensembl 74_37 -1 known missense c.1286 p.R429Q 1.000 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 tier1 - - 151 0 0.00 101 6 5.61 HBEGF 0 genome.wustl.edu 37 5 139725639 139725639 + Missense_Mutation SNP A A C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 5 139725639 139725639 A C SNP HBEGF ENST00000230990 human ensembl 74_37 -1 known missense c.77 p.L26R 0.995 NULL pfscan_EG-like_dom - no_errors HBEGF HGNC ENSG00000113070 tier1 - - 53 0 0.00 29 11 27.50 HIPK3 0 genome.wustl.edu 37 11 33360383 33360383 + Silent SNP A A T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 11 33360383 33360383 A T SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known silent c.1422 p.V474 1.000 pfam_Prot_kinase_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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK3 HGNC ENSG00000110422 tier1 - - 150 0 0.00 112 6 5.08 HK3 0 genome.wustl.edu 37 5 176314297 176314297 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 5 176314297 176314297 A G SNP HK3 ENST00000292432 human ensembl 74_37 -1 known missense c.1642 p.F548L 1.000 pfam_Hexokinase_N,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 tier1 - - 112 0 0.00 66 8 10.81 HPR 0 genome.wustl.edu 37 16 72110570 72110570 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 72110570 72110570 A G SNP HPR ENST00000228226 human ensembl 74_37 +1 known missense c.748 p.N250D 0.949 pirsf_Haptoglobin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Haptoglobin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors HPR HGNC ENSG00000261701 tier1 - - 157 0 0.00 73 57 43.85 IL20RB 0 genome.wustl.edu 37 3 136714377 136714377 + Silent SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 136714377 136714377 G A SNP IL20RB ENST00000329582 human ensembl 74_37 +1 known silent c.804 p.V268 0.005 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL20RB HGNC ENSG00000174564 tier1 - - 510 0 0.00 508 50 8.96 IMMP2L 0 genome.wustl.edu 37 7 110303717 110303717 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 110303717 110303717 G T SNP IMMP2L ENST00000331762 human ensembl 74_37 -1 known missense c.469 p.Q157K 1.000 superfamily_Peptidase_S24_S26A/B/C pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP2L HGNC ENSG00000184903 tier1 - - 121 0 0.00 118 11 8.46 KCNH5 0 genome.wustl.edu 37 14 63174581 63174581 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 14 63174581 63174581 C T SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.2612 p.S871N 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 tier1 - - 145 0 0.00 149 18 10.71 KIFAP3 0 genome.wustl.edu 37 1 169952006 169952006 + Missense_Mutation SNP A A T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 169952006 169952006 A T SNP KIFAP3 ENST00000361580 human ensembl 74_37 -1 known missense c.1509 p.D503E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 tier1 - - 59 0 0.00 47 31 39.74 KLHL41 0 genome.wustl.edu 37 2 170371206 170371206 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 170371206 170371206 G T SNP KLHL41 ENST00000284669 human ensembl 74_37 +1 known missense c.1233 p.E411D 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL41 HGNC ENSG00000239474 tier1 - - 164 0 0.00 169 16 8.65 KRT79 0 genome.wustl.edu 37 12 53225274 53225274 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 12 53225274 53225274 G A SNP KRT79 ENST00000330553 human ensembl 74_37 -1 known missense c.614 p.T205M 0.992 pfam_IF,superfamily_STAT_TF_coiled-coil pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 tier1 rs149430221 - 208 0 0.00 133 69 34.16 LIMK1 0 genome.wustl.edu 37 7 73534914 73534914 + Silent SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 73534914 73534914 C T SNP LIMK1 ENST00000336180 human ensembl 74_37 +1 known silent c.1569 p.G523 0.988 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 tier1 - - 138 0 0.00 157 12 7.10 LINGO2 0 genome.wustl.edu 37 9 27949053 27949053 + Silent SNP T T C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 9 27949053 27949053 T C SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known silent c.1617 p.K539 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 tier1 - - 176 0 0.00 130 15 10.34 LONRF2 0 genome.wustl.edu 37 2 100938521 100938523 + In_Frame_Del DEL GGC GGC - TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 100938521 100938523 GGC - DEL LONRF2 ENST00000393437 human ensembl 74_37 -1 known in_frame_del c.35_33 p.P12in_frame_del 0.077:0.087:0.087 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC ENSG00000170500 tier1 9 0 0.00 4 2 33.33 MAEL 0 genome.wustl.edu 37 1 166985522 166985522 + Splice_Site SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 166985522 166985522 G A SNP MAEL ENST00000367872 human ensembl 74_37 +1 known splice_site c.908+1 e9+1 1.000 - - - no_errors MAEL HGNC ENSG00000143194 tier1 - - 114 0 0.00 128 15 10.49 MAN2A2 0 genome.wustl.edu 37 15 91461481 91461481 + Missense_Mutation SNP T T A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 15 91461481 91461481 T A SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known missense c.3052 p.Y1018N 0.859 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 tier1 - - 246 0 0.00 222 16 6.72 MAN2B1 0 genome.wustl.edu 37 19 12767813 12767813 + Frame_Shift_Del DEL A A - TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 19 12767813 12767813 A - DEL MAN2B1 ENST00000456935 human ensembl 74_37 -1 known frame_shift_del c.1477 p.C493fs 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 tier1 44 0 0.00 36 2 5.26 MARCO 0 genome.wustl.edu 37 2 119750742 119750742 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 119750742 119750742 G T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.1295 p.R432L 0.791 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 tier1 - - 188 0 0.00 120 46 27.71 MED13 0 genome.wustl.edu 37 17 60040165 60040165 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 17 60040165 60040165 A G SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.5012 p.L1671P 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 tier1 - - 213 0 0.00 140 44 23.91 MT-ATP6 0 genome.wustl.edu 37 MT 9117 9117 + Silent SNP T T C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef MT 9117 9117 T C SNP MT-ATP6 ENST00000361899 human ensembl 74_37 +1 known silent c.591 p.I197 NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 tier1 - - 278 0 0.00 42 268 86.45 MT-ND5 0 genome.wustl.edu 37 MT 12818 12818 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef MT 12818 12818 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.482 p.R161Q NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 281 0 0.00 87 216 71.29 MT-RNR2 0 genome.wustl.edu 37 MT 2573 2573 + RNA SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef MT 2573 2573 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 315 0 0.00 176 85 32.44 MTIF2 0 genome.wustl.edu 37 2 55464532 55464532 + Missense_Mutation SNP T T G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 55464532 55464532 T G SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known missense c.1903 p.T635P 1.000 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 tier1 - - 93 0 0.00 69 7 9.21 MTMR6 0 genome.wustl.edu 37 13 25826019 25826019 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 13 25826019 25826019 C T SNP MTMR6 ENST00000381801 human ensembl 74_37 -1 known missense c.1450 p.E484K 1.000 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 tier1 - - 221 0 0.00 202 30 12.93 MUC16 0 genome.wustl.edu 37 19 9010666 9010666 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 19 9010666 9010666 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38995 p.S12999P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 38 0 0.00 21 12 36.36 MVP 0 genome.wustl.edu 37 16 29855978 29855978 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 29855978 29855978 G A SNP MVP ENST00000357402 human ensembl 74_37 +1 known missense c.1799 p.R600H 1.000 pfam_MVP_shoulder pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 tier1 - - 244 0 0.00 168 76 31.15 NCK1 0 genome.wustl.edu 37 3 136646967 136646967 + Nonsense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 136646967 136646967 C T SNP NCK1 ENST00000288986 human ensembl 74_37 +1 known nonsense c.124 p.R42* 0.999 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK1 HGNC ENSG00000158092 tier1 - - 107 0 0.00 98 11 10.09 NEB 0 genome.wustl.edu 37 2 152466520 152466520 + Silent SNP T T G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 152466520 152466520 T G SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.12133 p.R4045 0.707 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 69 0 0.00 74 9 10.84 NEFH 0 genome.wustl.edu 37 22 29884965 29884965 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 22 29884965 29884965 G T SNP NEFH ENST00000310624 human ensembl 74_37 +1 known missense c.1336 p.V446L 0.507 NULL pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 tier1 - - 116 0 0.00 66 14 17.50 NIPBL 0 genome.wustl.edu 37 5 37016190 37016190 + Missense_Mutation SNP T T A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 5 37016190 37016190 T A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.4694 p.F1565Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 105 0 0.00 69 12 14.81 NPAP1 0 genome.wustl.edu 37 15 24923259 24923259 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 15 24923259 24923259 C T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.2245 p.P749S 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 318 0 0.00 165 30 15.38 NUP210L 0 genome.wustl.edu 37 1 153991488 153991488 + Frame_Shift_Del DEL G G - TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 153991488 153991488 G - DEL NUP210L ENST00000368559 human ensembl 74_37 -1 known frame_shift_del c.4574 p.T1525fs 0.997 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 tier1 99 0 0.00 102 16 13.56 OR10G4 0 genome.wustl.edu 37 11 123887117 123887117 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 11 123887117 123887117 C T SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known missense c.836 p.T279M 0.438 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 OR10G4 HGNC ENSG00000254737 tier1 rs201358968 - 113 0 0.00 94 29 23.58 OR5M3 0 genome.wustl.edu 37 11 56237511 56237511 + Missense_Mutation SNP G G C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 11 56237511 56237511 G C SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.463 p.L155V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 tier1 - - 208 0 0.00 171 16 8.51 PDC 0 genome.wustl.edu 37 1 186413559 186413559 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 186413559 186413559 A G SNP PDC ENST00000340129 human ensembl 74_37 -1 known missense c.293 p.M98T 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDC HGNC ENSG00000116703 tier1 - - 187 0 0.00 200 22 9.91 PDE6A 0 genome.wustl.edu 37 5 149247320 149247320 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 5 149247320 149247320 G T SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known missense c.2242 p.L748M 1.000 pfam_PDEase_catalytic_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 tier1 - - 68 0 0.00 43 15 25.86 PFAS 0 genome.wustl.edu 37 17 8172066 8172066 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 17 8172066 8172066 G T SNP PFAS ENST00000314666 human ensembl 74_37 +1 known missense c.3598 p.G1200W 1.000 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 tier1 - - 100 0 0.00 81 13 13.83 PIWIL1 0 genome.wustl.edu 37 12 130856119 130856119 + Silent SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 12 130856119 130856119 G T SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known silent c.2562 p.L854 0.996 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 tier1 - - 213 0 0.00 183 15 7.50 PLAG1 0 genome.wustl.edu 37 8 57079437 57079437 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 8 57079437 57079437 G A SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known missense c.868 p.L290F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 tier1 - - 296 0 0.00 212 85 28.62 PPIG 0 genome.wustl.edu 37 2 170488304 170488304 + Missense_Mutation SNP C C G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 170488304 170488304 C G SNP PPIG ENST00000260970 human ensembl 74_37 +1 known missense c.790 p.L264V 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 tier1 - - 171 0 0.00 116 40 25.64 PPM1L 0 genome.wustl.edu 37 3 160786805 160786805 + Missense_Mutation SNP C C G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 160786805 160786805 C G SNP PPM1L ENST00000498165 human ensembl 74_37 +1 known missense c.943 p.R315G 0.998 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1L HGNC ENSG00000163590 tier1 - - 139 0 0.00 160 16 9.04 PRKCQ 0 genome.wustl.edu 37 10 6472894 6472894 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 10 6472894 6472894 C T SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.1843 p.V615M 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,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 tier1 - - 79 0 0.00 43 29 40.28 PSRC1 0 genome.wustl.edu 37 1 109823568 109823568 + Missense_Mutation SNP A A T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 109823568 109823568 A T SNP PSRC1 ENST00000409138 human ensembl 74_37 -1 known missense c.825 p.S275R 0.974 NULL NULL - no_errors PSRC1 HGNC ENSG00000134222 tier1 - - 88 0 0.00 51 25 32.89 PTPDC1 0 genome.wustl.edu 37 9 96857666 96857666 + Silent SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 9 96857666 96857666 G T SNP PTPDC1 ENST00000375360 human ensembl 74_37 +1 known silent c.522 p.V174 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPDC1 HGNC ENSG00000158079 tier1 - - 192 0 0.00 212 28 11.67 PTPRC 0 genome.wustl.edu 37 1 198685920 198685920 + Silent SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 198685920 198685920 G A SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known silent c.1401 p.V467 0.000 pirsf_Leukocyte_common_ag,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 tier1 - - 80 0 0.00 57 5 8.06 RAPGEF4 0 genome.wustl.edu 37 2 173894949 173894949 + Silent SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 173894949 173894949 C T SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known silent c.2616 p.N872 0.990 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 tier1 - - 100 0 0.00 65 22 25.29 RBMXL1 0 genome.wustl.edu 37 1 89448733 89448733 + Silent SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 89448733 89448733 G T SNP RBMXL1 ENST00000321792 human ensembl 74_37 -1 known silent c.777 p.G259 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 tier1 rs139696847 - 246 0 0.00 275 21 7.09 RRBP1 0 genome.wustl.edu 37 20 17639836 17639836 + Silent SNP G G C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 20 17639836 17639836 G C SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known silent c.1317 p.G439 0.191 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 tier1 - - 13 0 0.00 4 5 55.56 SAMD9 0 genome.wustl.edu 37 7 92730872 92730872 + Missense_Mutation SNP C C G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 92730872 92730872 C G SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.4539 p.Q1513H 0.973 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 tier1 - - 107 0 0.00 98 12 10.91 SDK1 0 genome.wustl.edu 37 7 4285416 4285416 + Silent SNP G G C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 4285416 4285416 G C SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.6360 p.S2120 0.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 100 0 0.00 102 9 7.96 SESN3 0 genome.wustl.edu 37 11 94917632 94917633 + Frame_Shift_Del DEL TT TT - TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 11 94917632 94917633 TT - DEL SESN3 ENST00000536441 human ensembl 74_37 -1 known frame_shift_del c.889_888 p.L298fs 1.000:0.990 pfam_PA26 pfam_PA26 - no_errors SESN3 HGNC ENSG00000149212 tier1 111 0 0.00 76 10 11.63 SLC44A4 0 genome.wustl.edu 37 6 31833680 31833680 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 6 31833680 31833680 G A SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.1457 p.P486L 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 tier1 - - 120 0 0.00 137 14 9.27 SLC6A11 0 genome.wustl.edu 37 3 10960116 10960116 + Silent SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 10960116 10960116 C A SNP SLC6A11 ENST00000254488 human ensembl 74_37 +1 known silent c.1098 p.P366 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 tier1 - - 84 0 0.00 39 11 22.00 SLITRK1 0 genome.wustl.edu 37 13 84454800 84454800 + Frame_Shift_Del DEL A A - TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 13 84454800 84454800 A - DEL SLITRK1 ENST00000377084 human ensembl 74_37 -1 known frame_shift_del c.843 p.F281fs 0.995 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 tier1 83 0 0.00 64 8 11.11 SMAD4 0 genome.wustl.edu 37 18 48591900 48591900 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 18 48591900 48591900 G T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1063 p.D355Y 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,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 SMAD4 HGNC ENSG00000141646 tier1 - - 159 0 0.00 75 40 34.48 SMOC2 0 genome.wustl.edu 37 6 168927117 168927117 + Silent SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 6 168927117 168927117 C T SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known silent c.348 p.D116 0.990 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 tier1 - - 130 0 0.00 72 6 7.69 SNAI2 0 genome.wustl.edu 37 8 49832582 49832582 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 8 49832582 49832582 C A SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.498 p.K166N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 tier1 - - 117 0 0.00 88 7 7.37 SOX8 0 genome.wustl.edu 37 16 1034859 1034859 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 1034859 1034859 G A SNP SOX8 ENST00000293894 human ensembl 74_37 +1 known missense c.814 p.E272K 1.000 NULL pfam_HMG_box_dom,pfam_Sox_N,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX8 HGNC ENSG00000005513 tier1 - - 80 0 0.00 62 19 23.46 SPARC 0 genome.wustl.edu 37 5 151051233 151051233 + Nonsense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 5 151051233 151051233 G T SNP SPARC ENST00000231061 human ensembl 74_37 -1 known nonsense c.231 p.C77* 1.000 pfam_Follistatin/Osteonectin_EGF,smart_Fol_N pfam_SPARC/Testican_Ca-bd-dom,pfam_Follistatin/Osteonectin_EGF,pfam_Kazal_dom,smart_Fol_N,smart_Kazal_dom - no_errors SPARC HGNC ENSG00000113140 tier1 - - 173 0 0.00 148 25 14.45 SPAST 0 genome.wustl.edu 37 2 32370026 32370026 + Missense_Mutation SNP G G C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 32370026 32370026 G C SNP SPAST ENST00000315285 human ensembl 74_37 +1 known missense c.1637 p.G546A 1.000 superfamily_P-loop_NTPase,pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 tier1 - - 44 0 0.00 58 5 7.94 SPATA31D4 0 genome.wustl.edu 37 9 84547312 84547312 + RNA SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 9 84547312 84547312 G A SNP SPATA31D4 ENST00000341875 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D4 HGNC ENSG00000189357 tier1 rs201894691 - 11 0 0.00 6 9 60.00 SRC 0 genome.wustl.edu 37 20 36031709 36031709 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 20 36031709 36031709 A G SNP SRC ENST00000360723 human ensembl 74_37 +1 known missense c.1556 p.E519G 1.000 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 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 SRC HGNC ENSG00000197122 26 0 0.00 33 4 10.81 STAG3L4 0 genome.wustl.edu 37 7 66767610 66767611 + RNA INS - - G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 66767610 66767611 - G INS STAG3L4 ENST00000416602 human ensembl 74_37 +1 known rna NULL NULL 0.046:0.034 - - - no_errors STAG3L4 HGNC ENSG00000106610 tier1 13 0 0.00 6 8 57.14 SYNE1 0 genome.wustl.edu 37 6 152560818 152560818 + Silent SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 6 152560818 152560818 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.19917 p.S6639 0.947 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 106 0 0.00 76 22 22.45 SYNE2 0 genome.wustl.edu 37 14 64560097 64560097 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 14 64560097 64560097 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.12007 p.E4003K 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 101 0 0.00 114 17 12.98 SYNE4 0 genome.wustl.edu 37 19 36498123 36498123 + Silent SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 19 36498123 36498123 C A SNP SYNE4 ENST00000324444 human ensembl 74_37 -1 known silent c.327 p.L109 0.262 NULL pfam_KASH,pfscan_KASH - no_errors SYNE4 HGNC ENSG00000181392 tier1 - - 10 0 0.00 8 4 33.33 TCF25 0 genome.wustl.edu 37 16 89965030 89965030 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 89965030 89965030 C T SNP TCF25 ENST00000263346 human ensembl 74_37 +1 known missense c.1088 p.A363V 0.999 pfam_TCF25 pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 tier1 - - 210 0 0.00 77 45 36.89 TIGD7 0 genome.wustl.edu 37 16 3350502 3350502 + Missense_Mutation SNP C C G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 3350502 3350502 C G SNP TIGD7 ENST00000268674 human ensembl 74_37 -1 known missense c.113 p.S38T 1.000 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 tier1 - - 122 0 0.00 116 22 15.83 TMEM51 0 genome.wustl.edu 37 1 15541793 15541794 + Frame_Shift_Ins INS - - G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 15541793 15541794 - G INS TMEM51 ENST00000376008 human ensembl 74_37 +1 known frame_shift_ins c.210_211 p.A71fs 0.198:1.000 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 tier1 200 0 0.00 141 19 11.88 TNFRSF11B 0 genome.wustl.edu 37 8 119945315 119945315 + Silent SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 8 119945315 119945315 G A SNP TNFRSF11B ENST00000297350 human ensembl 74_37 -1 known silent c.255 p.P85 0.000 pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11B,pfscan_TNFR/NGFR_Cys_rich_reg pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11B HGNC ENSG00000164761 tier1 - - 142 0 0.00 126 10 7.35 TRIM27 0 genome.wustl.edu 37 6 28879436 28879436 + RNA SNP A A C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 6 28879436 28879436 A C SNP TRIM27 ENST00000498117 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRIM27 HGNC ENSG00000204713 tier1 - - 84 0 0.00 54 21 28.00 TSPAN7 0 genome.wustl.edu 37 X 38533552 38533552 + Frame_Shift_Del DEL G G - TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef X 38533552 38533552 G - DEL TSPAN7 ENST00000422612 human ensembl 74_37 +1 known frame_shift_del c.501 p.D168fs 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN7 HGNC ENSG00000156298 tier1 18 0 0.00 4 2 33.33 TUBBP5 0 genome.wustl.edu 37 9 141070687 141070687 + RNA SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 9 141070687 141070687 C T SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 34 0 0.00 32 5 13.51 TYROBP 0 genome.wustl.edu 37 19 36398182 36398182 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 19 36398182 36398182 G T SNP TYROBP ENST00000585901 human ensembl 74_37 -1 putative missense c.307 p.H103N 0.000 NULL NULL - no_errors TYROBP HGNC ENSG00000011600 tier1 - - 40 0 0.00 24 7 22.58 UBE4B 0 genome.wustl.edu 37 1 10192505 10192505 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 10192505 10192505 G A SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.1990 p.V664I 0.825 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 tier1 - - 80 0 0.00 50 7 12.28 USH2A 0 genome.wustl.edu 37 1 216498831 216498831 + Missense_Mutation SNP A A T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 216498831 216498831 A T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.959 p.I320N 1.000 smart_Laminin_N,pfscan_Laminin_N 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 tier1 - - 118 0 0.00 114 23 16.79 VASN 0 genome.wustl.edu 37 16 4432313 4432313 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 4432313 4432313 G T SNP VASN ENST00000304735 human ensembl 74_37 +1 known missense c.1435 p.G479W 0.899 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors VASN HGNC ENSG00000168140 tier1 - - 28 0 0.00 25 8 24.24 VWA9 0 genome.wustl.edu 37 15 65871770 65871770 + Silent SNP A A C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 15 65871770 65871770 A C SNP VWA9 ENST00000567744 human ensembl 74_37 -1 known silent c.1641 p.S547 0.561 NULL NULL - no_errors VWA9 HGNC ENSG00000138614 tier1 - - 182 0 0.00 175 21 10.66 WLS 0 genome.wustl.edu 37 1 68611569 68611569 + Missense_Mutation SNP G G C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 68611569 68611569 G C SNP WLS ENST00000540432 human ensembl 74_37 -1 known missense c.1261 p.R421G 1.000 NULL NULL - no_errors WLS HGNC ENSG00000116729 tier1 - - 173 0 0.00 143 29 16.86 ZFP3 0 genome.wustl.edu 37 17 4996147 4996147 + Nonsense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 17 4996147 4996147 G T SNP ZFP3 ENST00000318833 human ensembl 74_37 +1 known nonsense c.1348 p.E450* 0.285 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP3 HGNC ENSG00000180787 tier1 - - 102 0 0.00 86 40 31.75 ZFP57 0 genome.wustl.edu 37 6 29640633 29640633 + Missense_Mutation SNP T T G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 6 29640633 29640633 T G SNP ZFP57 ENST00000488757 human ensembl 74_37 -1 known missense c.1255 p.K419Q 0.997 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 ZFP57 HGNC ENSG00000204644 tier1 - - 315 0 0.00 314 34 9.77 ZNF212 0 genome.wustl.edu 37 7 148947364 148947364 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 148947364 148947364 G A SNP ZNF212 ENST00000335870 human ensembl 74_37 +1 known missense c.139 p.A47T 0.797 pfam_DUF3669_Znf pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF212 HGNC ENSG00000170260 tier1 - - 82 0 0.00 70 18 20.45 ZNF567 0 genome.wustl.edu 37 19 37203737 37203737 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 19 37203737 37203737 C A SNP ZNF567 ENST00000536254 human ensembl 74_37 +1 known missense c.191 p.P64Q 1.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF567 HGNC ENSG00000189042 tier1 - - 79 0 0.00 109 6 5.22 ZNF592 0 genome.wustl.edu 37 15 85327539 85327539 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 15 85327539 85327539 A G SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known missense c.1633 p.K545E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 tier1 - - 152 0 0.00 157 18 10.23 ZNF667 0 genome.wustl.edu 37 19 56953039 56953039 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 19 56953039 56953039 G A SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.1709 p.P570L 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 tier1 - - 76 0 0.00 66 12 15.38 ZSCAN29 0 genome.wustl.edu 37 15 43658446 43658446 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 15 43658446 43658446 G A SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known missense c.1084 p.P362S 0.911 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 tier1 - - 118 0 0.00 84 15 15.15 UBE4B 0 genome.wustl.edu 37 1 10192505 10192505 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 10192505 10192505 G A SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.1990 p.V664I 0.825 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 60 0 0 43 6 12.2449 PSRC1 0 genome.wustl.edu 37 1 109823568 109823568 + Missense_Mutation SNP A A T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 109823568 109823568 A T SNP PSRC1 ENST00000409138 human ensembl 74_37 -1 known missense c.825 p.S275R 0.974 NULL NULL - no_errors PSRC1 HGNC ENSG00000134222 79 0 0 47 23 32.8571 AGMAT 0 genome.wustl.edu 37 1 15911273 15911273 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 15911273 15911273 C A SNP AGMAT ENST00000375826 human ensembl 74_37 -1 known missense c.190 p.V64L 0.041 NULL pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ENSG00000116771 9 0 0 9 5 35.7143 MAEL 0 genome.wustl.edu 37 1 166985522 166985522 + Splice_Site SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 166985522 166985522 G A SNP MAEL ENST00000367872 human ensembl 74_37 +1 known splice_site c.908+1 e9+1 1.000 - - - no_errors MAEL HGNC ENSG00000143194 105 0 0 113 14 11.0236 KIFAP3 0 genome.wustl.edu 37 1 169952006 169952006 + Missense_Mutation SNP A A T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 169952006 169952006 A T SNP KIFAP3 ENST00000361580 human ensembl 74_37 -1 known missense c.1509 p.D503E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 57 0 0 46 29 38.6667 GAS5 0 genome.wustl.edu 37 1 173833335 173833335 + RNA SNP T T A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 173833335 173833335 T A SNP GAS5 ENST00000363840 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors GAS5 HGNC ENSG00000234741 53 0 0 58 19 24.6753 PDC 0 genome.wustl.edu 37 1 186413559 186413559 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 186413559 186413559 A G SNP PDC ENST00000340129 human ensembl 74_37 -1 known missense c.293 p.M98T 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDC HGNC ENSG00000116703 167 0 0 177 20 10.1523 PTPRC 0 genome.wustl.edu 37 1 198685920 198685920 + Silent SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 198685920 198685920 G A SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known silent c.1401 p.V467 0.000 pirsf_Leukocyte_common_ag,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 71 0 0 52 4 7.14286 CHI3L1 0 genome.wustl.edu 37 1 203150364 203150364 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 203150364 203150364 G A SNP CHI3L1 ENST00000255409 human ensembl 74_37 -1 known missense c.637 p.R213C 0.997 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 121 0 0 120 10 7.69231 USH2A 0 genome.wustl.edu 37 1 216498831 216498831 + Missense_Mutation SNP A A T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 216498831 216498831 A T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.959 p.I320N 1.000 smart_Laminin_N,pfscan_Laminin_N 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 109 0 0 104 20 16.129 CHRM3 0 genome.wustl.edu 37 1 240071671 240071671 + Missense_Mutation SNP A A C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 240071671 240071671 A C SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known missense c.920 p.K307T 0.945 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 65 0 0 64 30 31.9149 ARID1A 0 genome.wustl.edu 37 1 27058048 27058048 + Nonsense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 27058048 27058048 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.1756 p.Q586* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 337 0 0 123 93 43.0556 WLS 0 genome.wustl.edu 37 1 68611569 68611569 + Missense_Mutation SNP G G C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 68611569 68611569 G C SNP WLS ENST00000540432 human ensembl 74_37 -1 known missense c.1261 p.R421G 1.000 NULL NULL - no_errors WLS HGNC ENSG00000116729 149 0 0 132 25 15.9236 CTH 0 genome.wustl.edu 37 1 70899633 70899633 + Splice_Site SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 70899633 70899633 G T SNP CTH ENST00000370938 human ensembl 74_37 +1 known splice_site c.999+1 e9+1 1.000 - - - no_errors CTH HGNC ENSG00000116761 52 0 0 47 14 22.9508 RBMXL1 0 genome.wustl.edu 37 1 89448733 89448733 + Silent SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 89448733 89448733 G T SNP RBMXL1 ENST00000321792 human ensembl 74_37 -1 known silent c.777 p.G259 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 228 0 0 249 20 7.43494 EBF3 0 genome.wustl.edu 37 10 131665478 131665478 + Silent SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 10 131665478 131665478 G A SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known silent c.966 p.G322 0.988 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 68 0 0 40 35 46.6667 ARMC4 0 genome.wustl.edu 37 10 28270418 28270418 + Missense_Mutation SNP A A C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 10 28270418 28270418 A C SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.913 p.F305V 0.991 superfamily_GSKIP_dom pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 102 0 0 77 13 14.4444 ZNF365 0 genome.wustl.edu 37 10 64135979 64135979 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 10 64135979 64135979 C A SNP ZNF365 ENST00000410046 human ensembl 74_37 +1 known missense c.27 p.S9R 1.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 161 0 0 133 12 8.27586 PRKCQ 0 genome.wustl.edu 37 10 6472894 6472894 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 10 6472894 6472894 C T SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.1843 p.V615M 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,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 71 0 0 37 26 41.2698 ATM 0 genome.wustl.edu 37 11 108196196 108196196 + Silent SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 11 108196196 108196196 A G SNP ATM ENST00000278616 human ensembl 74_37 +1 known silent c.6732 p.R2244 0.620 pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT 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 116 0 0 91 6 6.18557 OR10G4 0 genome.wustl.edu 37 11 123887117 123887117 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 11 123887117 123887117 C T SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known missense c.836 p.T279M 0.438 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 OR10G4 HGNC ENSG00000254737 100 0 0 85 26 23.4234 KIRREL3 0 genome.wustl.edu 37 11 126294781 126294781 + Silent SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 11 126294781 126294781 G A SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known silent c.2031 p.N677 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 40 0 0 45 5 10 GAS2 0 genome.wustl.edu 37 11 22770786 22770786 + Silent SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 11 22770786 22770786 A G SNP GAS2 ENST00000278187 human ensembl 74_37 +1 known silent c.594 p.T198 0.990 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC ENSG00000148935 95 0 0 70 6 7.89474 HIPK3 0 genome.wustl.edu 37 11 33360383 33360383 + Silent SNP A A T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 11 33360383 33360383 A T SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known silent c.1422 p.V474 1.000 pfam_Prot_kinase_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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK3 HGNC ENSG00000110422 126 0 0 101 6 5.60748 OR5M3 0 genome.wustl.edu 37 11 56237511 56237511 + Missense_Mutation SNP G G C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 11 56237511 56237511 G C SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.463 p.L155V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 192 0 0 161 15 8.52273 FAM111B 0 genome.wustl.edu 37 11 58892180 58892180 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 11 58892180 58892180 C A SNP FAM111B ENST00000343597 human ensembl 74_37 +1 known missense c.610 p.L204I 0.218 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 91 0 0 100 6 5.66038 PIWIL1 0 genome.wustl.edu 37 12 130856119 130856119 + Silent SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 12 130856119 130856119 G T SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known silent c.2562 p.L854 0.996 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 180 0 0 157 15 8.72093 DDX11 0 genome.wustl.edu 37 12 31238020 31238020 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 12 31238020 31238020 G A SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known missense c.598 p.A200T 0.563 superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 21 0 0 18 5 21.7391 DDX11 0 genome.wustl.edu 37 12 31238023 31238023 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 12 31238023 31238023 G A SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known missense c.601 p.E201K 0.986 superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 20 0 0 17 4 19.0476 KRT79 0 genome.wustl.edu 37 12 53225274 53225274 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 12 53225274 53225274 G A SNP KRT79 ENST00000330553 human ensembl 74_37 -1 known missense c.614 p.T205M 0.992 pfam_IF,superfamily_STAT_TF_coiled-coil pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 191 0 0 125 59 32.0652 GAPDH 0 genome.wustl.edu 37 12 6646855 6646855 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 12 6646855 6646855 A G SNP GAPDH ENST00000229239 human ensembl 74_37 +1 known missense c.631 p.T211A 0.998 pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDH HGNC ENSG00000111640 68 0 0 52 20 27.7778 SPACA7 0 genome.wustl.edu 37 13 113030732 113030732 + Nonsense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 13 113030732 113030732 C A SNP SPACA7 ENST00000283550 human ensembl 74_37 +1 known nonsense c.33 p.C11* 0.026 NULL NULL - no_errors SPACA7 HGNC ENSG00000153498 30 0 0 34 3 8.10811 MTMR6 0 genome.wustl.edu 37 13 25826019 25826019 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 13 25826019 25826019 C T SNP MTMR6 ENST00000381801 human ensembl 74_37 -1 known missense c.1450 p.E484K 1.000 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 196 0 0 177 28 13.6585 KCNH5 0 genome.wustl.edu 37 14 63174581 63174581 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 14 63174581 63174581 C T SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.2612 p.S871N 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 138 0 0 142 18 11.25 SYNE2 0 genome.wustl.edu 37 14 64560097 64560097 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 14 64560097 64560097 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.12007 p.E4003K 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 100 0 0 108 17 13.6 NPAP1 0 genome.wustl.edu 37 15 24923259 24923259 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 15 24923259 24923259 C T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.2245 p.P749S 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 289 0 0 153 28 15.4696 ZSCAN29 0 genome.wustl.edu 37 15 43658446 43658446 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 15 43658446 43658446 G A SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known missense c.1084 p.P362S 0.911 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 115 0 0 81 15 15.625 DUOXA2 0 genome.wustl.edu 37 15 45408874 45408874 + Silent SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 15 45408874 45408874 C T SNP DUOXA2 ENST00000323030 human ensembl 74_37 +1 known silent c.501 p.C167 0.996 pfam_Dual_oxidase_maturation_fac pfam_Dual_oxidase_maturation_fac - no_errors DUOXA2 HGNC ENSG00000140274 81 0 0 71 17 19.3182 VWA9 0 genome.wustl.edu 37 15 65871770 65871770 + Silent SNP A A C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 15 65871770 65871770 A C SNP VWA9 ENST00000567744 human ensembl 74_37 -1 known silent c.1641 p.S547 0.561 NULL NULL - no_errors VWA9 HGNC ENSG00000138614 161 0 0 157 18 10.2857 ZNF592 0 genome.wustl.edu 37 15 85327539 85327539 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 15 85327539 85327539 A G SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known missense c.1633 p.K545E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 147 0 0 147 17 10.3659 AGBL1 0 genome.wustl.edu 37 15 86807659 86807659 + Silent SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 15 86807659 86807659 G T SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known silent c.1119 p.V373 0.921 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 44 0 0 53 8 13.1148 MAN2A2 0 genome.wustl.edu 37 15 91461481 91461481 + Missense_Mutation SNP T T A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 15 91461481 91461481 T A SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known missense c.3052 p.Y1018N 0.859 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 213 0 0 199 11 5.2381 SOX8 0 genome.wustl.edu 37 16 1034859 1034859 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 1034859 1034859 G A SNP SOX8 ENST00000293894 human ensembl 74_37 +1 known missense c.814 p.E272K 1.000 NULL pfam_HMG_box_dom,pfam_Sox_N,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX8 HGNC ENSG00000005513 68 0 0 52 18 25.7143 HS3ST4 0 genome.wustl.edu 37 16 26147374 26147374 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 26147374 26147374 G T SNP HS3ST4 ENST00000331351 human ensembl 74_37 +1 known missense c.1176 p.K392N 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST4 HGNC ENSG00000182601 51 0 0 51 5 8.92857 MVP 0 genome.wustl.edu 37 16 29855978 29855978 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 29855978 29855978 G A SNP MVP ENST00000357402 human ensembl 74_37 +1 known missense c.1799 p.R600H 1.000 pfam_MVP_shoulder pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 226 0 0 150 64 29.9065 TIGD7 0 genome.wustl.edu 37 16 3350502 3350502 + Missense_Mutation SNP C C G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 3350502 3350502 C G SNP TIGD7 ENST00000268674 human ensembl 74_37 -1 known missense c.113 p.S38T 1.000 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 119 0 0 110 21 16.0305 VASN 0 genome.wustl.edu 37 16 4432313 4432313 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 4432313 4432313 G T SNP VASN ENST00000304735 human ensembl 74_37 +1 known missense c.1435 p.G479W 0.899 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors VASN HGNC ENSG00000168140 27 0 0 25 6 19.3548 NMRAL1 0 genome.wustl.edu 37 16 4511878 4511878 + Missense_Mutation SNP G G C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 4511878 4511878 G C SNP NMRAL1 ENST00000283429 human ensembl 74_37 -1 known missense c.803 p.P268R 0.989 NULL pfam_NmrA,pfam_DH_sc/Rdtase_SDR,pfam_RCK_N - no_errors NMRAL1 HGNC ENSG00000153406 307 0 0 275 15 5.17241 CHD9 0 genome.wustl.edu 37 16 53190619 53190619 + Silent SNP T T C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 53190619 53190619 T C SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known silent c.618 p.H206 0.877 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 217 0 0 123 66 34.9206 HPR 0 genome.wustl.edu 37 16 72110570 72110570 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 72110570 72110570 A G SNP HPR ENST00000228226 human ensembl 74_37 +1 known missense c.748 p.N250D 0.949 pirsf_Haptoglobin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Haptoglobin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors HPR HGNC ENSG00000261701 144 0 0 61 51 45.5357 TCF25 0 genome.wustl.edu 37 16 89965030 89965030 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 16 89965030 89965030 C T SNP TCF25 ENST00000263346 human ensembl 74_37 +1 known missense c.1088 p.A363V 0.999 pfam_TCF25 pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 199 0 0 72 41 36.2832 EZH1 0 genome.wustl.edu 37 17 40871153 40871153 + Missense_Mutation SNP T T C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 17 40871153 40871153 T C SNP EZH1 ENST00000428826 human ensembl 74_37 -1 known missense c.737 p.E246G 1.000 smart_SANT/Myb pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 287 0 0 325 30 8.4507 ZFP3 0 genome.wustl.edu 37 17 4996147 4996147 + Nonsense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 17 4996147 4996147 G T SNP ZFP3 ENST00000318833 human ensembl 74_37 +1 known nonsense c.1348 p.E450* 0.285 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP3 HGNC ENSG00000180787 95 0 0 79 34 30.0885 MED13 0 genome.wustl.edu 37 17 60040165 60040165 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 17 60040165 60040165 A G SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.5012 p.L1671P 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 179 0 0 118 41 25.7862 TBC1D3P2 0 genome.wustl.edu 37 17 60342186 60342186 + RNA SNP T T C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 17 60342186 60342186 T C SNP TBC1D3P2 ENST00000581291 human ensembl 74_37 -1 known rna NULL NULL 0.062 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 19 0 0 20 4 16.6667 PFAS 0 genome.wustl.edu 37 17 8172066 8172066 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 17 8172066 8172066 G T SNP PFAS ENST00000314666 human ensembl 74_37 +1 known missense c.3598 p.G1200W 1.000 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 95 0 0 74 12 13.9535 CTAGE1 0 genome.wustl.edu 37 18 19995825 19995825 + Silent SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 18 19995825 19995825 G A SNP CTAGE1 ENST00000391403 human ensembl 74_37 -1 known silent c.1950 p.P650 0.390 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 336 0 0 499 120 19.3861 SMAD4 0 genome.wustl.edu 37 18 48591900 48591900 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 18 48591900 48591900 G T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1063 p.D355Y 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,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 SMAD4 HGNC ENSG00000141646 151 0 0 66 39 37.1429 SYNE4 0 genome.wustl.edu 37 19 36498123 36498123 + Silent SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 19 36498123 36498123 C A SNP SYNE4 ENST00000324444 human ensembl 74_37 -1 known silent c.327 p.L109 0.262 NULL pfam_KASH,pfscan_KASH - no_errors SYNE4 HGNC ENSG00000181392 9 0 0 8 4 33.3333 ZNF567 0 genome.wustl.edu 37 19 37203737 37203737 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 19 37203737 37203737 C A SNP ZNF567 ENST00000536254 human ensembl 74_37 +1 known missense c.191 p.P64Q 1.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF567 HGNC ENSG00000189042 72 0 0 92 5 5.15464 ZNF428 0 genome.wustl.edu 37 19 44112042 44112042 + Silent SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 19 44112042 44112042 G A SNP ZNF428 ENST00000300811 human ensembl 74_37 -1 known silent c.294 p.R98 0.983 NULL pfscan_Znf_C2H2 - no_errors ZNF428 HGNC ENSG00000131116 10 0 0 18 3 14.2857 ZNF667 0 genome.wustl.edu 37 19 56953039 56953039 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 19 56953039 56953039 G A SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.1709 p.P570L 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 73 0 0 62 11 15.0685 MUC16 0 genome.wustl.edu 37 19 9010666 9010666 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 19 9010666 9010666 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38995 p.S12999P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 37 0 0 19 10 34.4828 MARCO 0 genome.wustl.edu 37 2 119750742 119750742 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 119750742 119750742 G T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.1295 p.R432L 0.791 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 166 0 0 102 44 30.137 NEB 0 genome.wustl.edu 37 2 152466520 152466520 + Silent SNP T T G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 152466520 152466520 T G SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.12133 p.R4045 0.707 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 66 0 0 70 9 11.3924 KLHL41 0 genome.wustl.edu 37 2 170371206 170371206 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 170371206 170371206 G T SNP KLHL41 ENST00000284669 human ensembl 74_37 +1 known missense c.1233 p.E411D 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL41 HGNC ENSG00000239474 145 0 0 149 15 9.14634 PPIG 0 genome.wustl.edu 37 2 170488304 170488304 + Missense_Mutation SNP C C G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 170488304 170488304 C G SNP PPIG ENST00000260970 human ensembl 74_37 +1 known missense c.790 p.L264V 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 148 0 0 102 37 26.6187 RAPGEF4 0 genome.wustl.edu 37 2 173894949 173894949 + Silent SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 173894949 173894949 C T SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known silent c.2616 p.N872 0.990 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 84 0 0 56 19 25.3333 SPAST 0 genome.wustl.edu 37 2 32370026 32370026 + Missense_Mutation SNP G G C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 32370026 32370026 G C SNP SPAST ENST00000315285 human ensembl 74_37 +1 known missense c.1637 p.G546A 1.000 superfamily_P-loop_NTPase,pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 35 0 0 48 5 9.43396 MTIF2 0 genome.wustl.edu 37 2 55464532 55464532 + Missense_Mutation SNP T T G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 55464532 55464532 T G SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known missense c.1903 p.T635P 1.000 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 78 0 0 62 7 10.1449 C2orf78 0 genome.wustl.edu 37 2 74043291 74043291 + Missense_Mutation SNP A A C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 2 74043291 74043291 A C SNP C2orf78 ENST00000409561 human ensembl 74_37 +1 novel missense c.1941 p.K647N 0.000 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 88 0 0 55 33 37.5 BPIFB2 0 genome.wustl.edu 37 20 31606879 31606879 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 20 31606879 31606879 C A SNP BPIFB2 ENST00000170150 human ensembl 74_37 +1 known missense c.867 p.D289E 0.948 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC ENSG00000078898 180 0 0 145 42 22.4599 SRC 0 genome.wustl.edu 37 20 36031709 36031709 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 20 36031709 36031709 A G SNP SRC ENST00000360723 human ensembl 74_37 +1 known missense c.1556 p.E519G 1.000 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 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 SRC HGNC ENSG00000197122 23 0 0 29 3 9.375 CLTCL1 0 genome.wustl.edu 37 22 19223386 19223386 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 22 19223386 19223386 C A SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.802 p.A268S 0.055 superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 65 0 0 36 4 10 NEFH 0 genome.wustl.edu 37 22 29884965 29884965 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 22 29884965 29884965 G T SNP NEFH ENST00000310624 human ensembl 74_37 +1 known missense c.1336 p.V446L 0.507 NULL pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 103 0 0 61 12 16.4384 CNTN6 0 genome.wustl.edu 37 3 1337472 1337472 + Silent SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 1337472 1337472 A G SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.642 p.L214 0.608 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 60 0 0 43 7 14 NCK1 0 genome.wustl.edu 37 3 136646967 136646967 + Nonsense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 136646967 136646967 C T SNP NCK1 ENST00000288986 human ensembl 74_37 +1 known nonsense c.124 p.R42* 0.999 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK1 HGNC ENSG00000158092 99 0 0 96 11 10.2804 IL20RB 0 genome.wustl.edu 37 3 136714377 136714377 + Silent SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 136714377 136714377 G A SNP IL20RB ENST00000329582 human ensembl 74_37 +1 known silent c.804 p.V268 0.005 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL20RB HGNC ENSG00000174564 451 0 0 427 41 8.76068 DZIP1L 0 genome.wustl.edu 37 3 137781750 137781750 + Missense_Mutation SNP C C G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 137781750 137781750 C G SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.2212 p.E738Q 0.005 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 108 0 0 85 12 12.3711 PPM1L 0 genome.wustl.edu 37 3 160786805 160786805 + Missense_Mutation SNP C C G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 160786805 160786805 C G SNP PPM1L ENST00000498165 human ensembl 74_37 +1 known missense c.943 p.R315G 0.998 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1L HGNC ENSG00000163590 134 0 0 154 14 8.33333 LINC00969 0 genome.wustl.edu 37 3 195400848 195400848 + RNA SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 195400848 195400848 G A SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 0.725 - - - no_errors LINC00969 HGNC ENSG00000242086 23 0 0 13 4 23.5294 MUC4 0 genome.wustl.edu 37 3 195505870 195505870 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 195505870 195505870 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.12581 p.P4194L 0.476 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 9 0 0 16 3 15.7895 MUC4 0 genome.wustl.edu 37 3 195508133 195508133 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 195508133 195508133 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.10318 p.P3440S 0.010 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 11 0 0 9 4 30.7692 WDR48 0 genome.wustl.edu 37 3 39108243 39108243 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 39108243 39108243 G A SNP WDR48 ENST00000302313 human ensembl 74_37 +1 known missense c.358 p.V120I 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR48 HGNC ENSG00000114742 162 1 0.613497 69 44 38.9381 FLNB 0 genome.wustl.edu 37 3 58111404 58111404 + Missense_Mutation SNP A A T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 3 58111404 58111404 A T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.3995 p.Q1332L 0.019 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 148 0 0 128 10 7.24638 DKK2 0 genome.wustl.edu 37 4 107846967 107846967 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 4 107846967 107846967 C T SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel missense c.362 p.R121H 1.000 pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 173 0 0 135 9 6.25 ETNPPL 0 genome.wustl.edu 37 4 109664983 109664983 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 4 109664983 109664983 C T SNP ETNPPL ENST00000296486 human ensembl 74_37 -1 known missense c.1333 p.E445K 0.000 NULL pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors ETNPPL HGNC ENSG00000164089 100 0 0 81 13 13.8298 C4orf26 0 genome.wustl.edu 37 4 76489417 76489417 + Nonsense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 4 76489417 76489417 C T SNP C4orf26 ENST00000435974 human ensembl 74_37 +1 putative nonsense c.205 p.R69* 0.036 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 163 0 0 128 20 13.5135 HBEGF 0 genome.wustl.edu 37 5 139725639 139725639 + Missense_Mutation SNP A A C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 5 139725639 139725639 A C SNP HBEGF ENST00000230990 human ensembl 74_37 -1 known missense c.77 p.L26R 0.995 NULL pfscan_EG-like_dom - no_errors HBEGF HGNC ENSG00000113070 49 0 0 28 10 26.3158 PDE6A 0 genome.wustl.edu 37 5 149247320 149247320 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 5 149247320 149247320 G T SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known missense c.2242 p.L748M 1.000 pfam_PDEase_catalytic_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 62 0 0 38 13 25.4902 SPARC 0 genome.wustl.edu 37 5 151051233 151051233 + Nonsense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 5 151051233 151051233 G T SNP SPARC ENST00000231061 human ensembl 74_37 -1 known nonsense c.231 p.C77* 1.000 pfam_Follistatin/Osteonectin_EGF,smart_Fol_N pfam_SPARC/Testican_Ca-bd-dom,pfam_Follistatin/Osteonectin_EGF,pfam_Kazal_dom,smart_Fol_N,smart_Kazal_dom - no_errors SPARC HGNC ENSG00000113140 161 0 0 136 22 13.9241 HK3 0 genome.wustl.edu 37 5 176314297 176314297 + Missense_Mutation SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 5 176314297 176314297 A G SNP HK3 ENST00000292432 human ensembl 74_37 -1 known missense c.1642 p.F548L 1.000 pfam_Hexokinase_N,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 104 0 0 60 6 9.09091 NIPBL 0 genome.wustl.edu 37 5 37016190 37016190 + Missense_Mutation SNP T T A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 5 37016190 37016190 T A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.4694 p.F1565Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 94 0 0 59 11 15.7143 SYNE1 0 genome.wustl.edu 37 6 152560818 152560818 + Silent SNP A A G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 6 152560818 152560818 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.19917 p.S6639 0.947 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 94 0 0 68 21 23.5955 SMOC2 0 genome.wustl.edu 37 6 168927117 168927117 + Silent SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 6 168927117 168927117 C T SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known silent c.348 p.D116 0.990 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 118 0 0 65 5 7.14286 ZFP57 0 genome.wustl.edu 37 6 29640633 29640633 + Missense_Mutation SNP T T G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 6 29640633 29640633 T G SNP ZFP57 ENST00000488757 human ensembl 74_37 -1 known missense c.1255 p.K419Q 0.997 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 ZFP57 HGNC ENSG00000204644 275 0 0 286 31 9.77918 SLC44A4 0 genome.wustl.edu 37 6 31833680 31833680 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 6 31833680 31833680 G A SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.1457 p.P486L 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 115 0 0 128 13 9.21986 CDYL 0 genome.wustl.edu 37 6 4716083 4716083 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 6 4716083 4716083 C A SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.71 p.P24Q 0.000 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 57 0 0 44 5 10.2041 CDYL 0 genome.wustl.edu 37 6 4952584 4952584 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 6 4952584 4952584 G A SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.1579 p.G527R 0.999 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 105 0 0 57 41 41.8367 IMMP2L 0 genome.wustl.edu 37 7 110303717 110303717 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 110303717 110303717 G T SNP IMMP2L ENST00000331762 human ensembl 74_37 -1 known missense c.469 p.Q157K 1.000 superfamily_Peptidase_S24_S26A/B/C pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP2L HGNC ENSG00000184903 109 0 0 109 10 8.40336 FOXP2 0 genome.wustl.edu 37 7 114282671 114282671 + Nonsense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 114282671 114282671 C T SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known nonsense c.1057 p.R353* 0.961 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 129 0 0 113 8 6.61157 ZNF212 0 genome.wustl.edu 37 7 148947364 148947364 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 148947364 148947364 G A SNP ZNF212 ENST00000335870 human ensembl 74_37 +1 known missense c.139 p.A47T 0.797 pfam_DUF3669_Znf pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF212 HGNC ENSG00000170260 80 0 0 66 17 20.4819 AGAP3 0 genome.wustl.edu 37 7 150835321 150835321 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 150835321 150835321 C A SNP AGAP3 ENST00000397238 human ensembl 74_37 +1 known missense c.1587 p.H529Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 53 0 0 41 10 19.6078 SDK1 0 genome.wustl.edu 37 7 4285416 4285416 + Silent SNP G G C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 4285416 4285416 G C SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.6360 p.S2120 0.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 89 0 0 91 9 9 LIMK1 0 genome.wustl.edu 37 7 73534914 73534914 + Silent SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 73534914 73534914 C T SNP LIMK1 ENST00000336180 human ensembl 74_37 +1 known silent c.1569 p.G523 0.988 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 122 0 0 135 8 5.59441 ABCB1 0 genome.wustl.edu 37 7 87225104 87225104 + Missense_Mutation SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 87225104 87225104 G T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.95 p.P32Q 1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 76 0 0 73 7 8.75 SAMD9 0 genome.wustl.edu 37 7 92730872 92730872 + Missense_Mutation SNP C C G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 92730872 92730872 C G SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.4539 p.Q1513H 0.973 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 97 0 0 88 10 10.2041 TNFRSF11B 0 genome.wustl.edu 37 8 119945315 119945315 + Silent SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 8 119945315 119945315 G A SNP TNFRSF11B ENST00000297350 human ensembl 74_37 -1 known silent c.255 p.P85 0.000 pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11B,pfscan_TNFR/NGFR_Cys_rich_reg pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11B HGNC ENSG00000164761 138 0 0 117 9 7.14286 CYP11B1 0 genome.wustl.edu 37 8 143961062 143961062 + Missense_Mutation SNP C C G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 8 143961062 143961062 C G SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.168 p.W56C 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 97 0 0 87 29 25 CSGALNACT1 0 genome.wustl.edu 37 8 19362917 19362917 + Nonsense_Mutation SNP A A T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 8 19362917 19362917 A T SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known nonsense c.429 p.Y143* 0.261 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 113 0 0 117 16 12.0301 SNAI2 0 genome.wustl.edu 37 8 49832582 49832582 + Missense_Mutation SNP C C A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 8 49832582 49832582 C A SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.498 p.K166N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 114 0 0 85 6 6.59341 PLAG1 0 genome.wustl.edu 37 8 57079437 57079437 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 8 57079437 57079437 G A SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known missense c.868 p.L290F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 270 0 0 190 80 29.6296 GRIN3A 0 genome.wustl.edu 37 9 104499894 104499894 + Nonsense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 9 104499894 104499894 C T SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known nonsense c.368 p.W123* 1.000 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 53 0 0 42 4 8.69565 TUBBP5 0 genome.wustl.edu 37 9 141070687 141070687 + RNA SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 9 141070687 141070687 C T SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 31 0 0 31 5 13.8889 LINGO2 0 genome.wustl.edu 37 9 27949053 27949053 + Silent SNP T T C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 9 27949053 27949053 T C SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known silent c.1617 p.K539 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 157 0 0 119 14 10.5263 PTPDC1 0 genome.wustl.edu 37 9 96857666 96857666 + Silent SNP G G T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 9 96857666 96857666 G T SNP PTPDC1 ENST00000375360 human ensembl 74_37 +1 known silent c.522 p.V174 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPDC1 HGNC ENSG00000158079 172 0 0 185 25 11.9048 MT-ND5 0 genome.wustl.edu 37 MT 12818 12818 + Missense_Mutation SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef MT 12818 12818 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.482 p.R161Q NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 235 0 0 68 180 72.5806 MT-RNR2 0 genome.wustl.edu 37 MT 2573 2573 + RNA SNP G G A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef MT 2573 2573 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 264 0 0 143 72 33.4884 MT-ATP6 0 genome.wustl.edu 37 MT 9117 9117 + Silent SNP T T C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef MT 9117 9117 T C SNP MT-ATP6 ENST00000361899 human ensembl 74_37 +1 known silent c.591 p.I197 NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 234 0 0 38 228 85.7143 AFF2 0 genome.wustl.edu 37 X 148044423 148044423 + Missense_Mutation SNP A A C TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef X 148044423 148044423 A C SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.2869 p.T957P 0.899 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 81 0 0 35 28 44.4444 DMD 0 genome.wustl.edu 37 X 32591740 32591740 + Silent SNP T T G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef X 32591740 32591740 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.1719 p.A573 0.125 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 116 0 0 75 4 5.06329 ARAF 0 genome.wustl.edu 37 X 47429313 47429313 + Nonsense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef X 47429313 47429313 C T SNP ARAF ENST00000377045 human ensembl 74_37 +1 known nonsense c.1441 p.Q481* 1.000 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 28 0 0 9 3 25 GRIPAP1 0 genome.wustl.edu 37 X 48839839 48839839 + Missense_Mutation SNP C C T TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef X 48839839 48839839 C T SNP GRIPAP1 ENST00000376441 human ensembl 74_37 -1 known missense c.1286 p.R429Q 1.000 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 137 0 0 86 5 5.49451 AR 0 genome.wustl.edu 37 X 66765158 66765158 + Missense_Mutation SNP T T A TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef X 66765158 66765158 T A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.170 p.L57Q 0.929 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 68 0 0 49 4 7.54717 NUP210L 0 genome.wustl.edu 37 1 153991488 153991488 + Frame_Shift_Del DEL G G - TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 153991488 153991488 G - DEL NUP210L ENST00000368559 human ensembl 74_37 -1 known frame_shift_del c.4574 p.T1525fs 0.997 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 99 0 0 101 16 13.6752 TMEM51 0 genome.wustl.edu 37 1 15541793 15541794 + Frame_Shift_Ins INS - - G TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 1 15541793 15541794 - G INS TMEM51 ENST00000376008 human ensembl 74_37 +1 known frame_shift_ins c.210_211 p.A71fs 0.198:1.000 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 194 0 0 132 21 13.7255 BMPR1A 0 genome.wustl.edu 37 10 88659639 88659640 + Frame_Shift_Ins INS - - TGTCA TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 10 88659639 88659640 - TGTCA INS BMPR1A ENST00000372037 human ensembl 74_37 +1 known frame_shift_ins c.422_423 p.I143fs 0.943:0.913 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR1A HGNC ENSG00000107779 110 0 0 75 6 7.40741 SLITRK1 0 genome.wustl.edu 37 13 84454800 84454800 + Frame_Shift_Del DEL A A - TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 13 84454800 84454800 A - DEL SLITRK1 ENST00000377084 human ensembl 74_37 -1 known frame_shift_del c.843 p.F281fs 0.995 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 83 0 0 64 8 11.1111 ADAM21P1 0 genome.wustl.edu 37 14 70713986 70713986 + RNA DEL C C - TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 14 70713986 70713986 C - DEL ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.553 - - - no_errors ADAM21P1 HGNC ENSG00000235812 137 0 0 113 11 8.87097 ABCB8 0 genome.wustl.edu 37 7 150730702 150730726 + Frame_Shift_Del DEL GGCTACCGCAGCTCCTCCCTCCTCC GGCTACCGCAGCTCCTCCCTCCTCC - TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 GGCTACCGCAGCTCCTCCCTCCTCC GGCTACCGCAGCTCCTCCCTCCTCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef 7 150730702 150730726 GGCTACCGCAGCTCCTCCCTCCTCC - DEL ABCB8 ENST00000297504 human ensembl 74_37 +1 known frame_shift_del c.157_181 p.Y54fs 0.070:0.059:0.038:0.004:0.000:0.000:0.000:0.000:0.001:0.007:0.194:0.244:0.256:0.282:0.264:0.033:0.001:0.043:0.058:0.057:0.033:0.048:0.049:0.041:0.027 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 148 0 0 133 17 11.3333 SOX3 0 genome.wustl.edu 37 X 139586495 139586515 + In_Frame_Del DEL GCGGCCGCGGCAGCGGCGGCG GCGGCCGCGGCAGCGGCGGCG - TCGA-KB-A6F7-01A-12D-A32N-08 TCGA-KB-A6F7-10A-01D-A32N-08 GCGGCCGCGGCAGCGGCGGCG GCGGCCGCGGCAGCGGCGGCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2fb0e70b-57ff-42ee-9c19-7fc6ce8ed085 ea38bb47-262a-449f-ab5f-18e4292c38ef X 139586495 139586515 GCGGCCGCGGCAGCGGCGGCG - DEL SOX3 ENST00000370536 human ensembl 74_37 -1 known in_frame_del c.731_711 p.AAAAAAA241in_frame_del 0.006:0.010:0.011:0.012:0.014:0.000:0.003:0.006:0.002:0.002:0.001:0.000:0.000:0.001:0.006:0.009:0.008:0.000:0.000:0.000:0.001 pfam_TF_SOX pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX3 HGNC ENSG00000134595 25 0 0 9 12 57.1429