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 ABI1 0 genome.wustl.edu 37 10 27066072 27066072 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 10 27066072 27066072 C T SNP ABI1 ENST00000355394 human ensembl 74_37 -1 known silent c.384 p.A128 0.998 pfam_Abl-interactor_HHR_dom pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI1 HGNC ENSG00000136754 tier1 - - 70 0 0.00 49 14 21.88 ACAD11 0 genome.wustl.edu 37 3 132277827 132277827 + Silent SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 3 132277827 132277827 T C SNP ACAD11 ENST00000264990 human ensembl 74_37 -1 known silent c.2331 p.T777 0.231 NULL pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 tier1 - - 91 0 0.00 70 15 17.65 ACSM2A 0 genome.wustl.edu 37 16 20492165 20492165 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 16 20492165 20492165 G T SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.1431 p.E477D 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 tier1 - - 94 0 0.00 83 8 8.79 ACTA2 0 genome.wustl.edu 37 10 90701066 90701066 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 10 90701066 90701066 C T SNP ACTA2 ENST00000224784 human ensembl 74_37 -1 known missense c.536 p.R179H 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 tier1 - - 86 0 0.00 51 10 16.39 ADAM12 0 genome.wustl.edu 37 10 127708387 127708387 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 10 127708387 127708387 C T SNP ADAM12 ENST00000368679 human ensembl 74_37 -1 known missense c.2546 p.C849Y 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM12 HGNC ENSG00000148848 44 0 0.00 34 3 8.11 AGL 0 genome.wustl.edu 37 1 100361905 100361905 + Missense_Mutation SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 100361905 100361905 G C SNP AGL ENST00000294724 human ensembl 74_37 +1 known missense c.3323 p.R1108T 1.000 pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 82 0 0.00 65 4 5.80 AHNAK 0 genome.wustl.edu 37 11 62290215 62290215 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 11 62290215 62290215 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.11674 p.D3892N 0.854 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 142 0 0.00 107 6 5.31 AKAP11 0 genome.wustl.edu 37 13 42876108 42876108 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 13 42876108 42876108 G T SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known missense c.3226 p.A1076S 0.819 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 tier1 - - 54 0 0.00 37 4 9.76 AKNA 0 genome.wustl.edu 37 9 117139229 117139229 + Silent SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 9 117139229 117139229 T C SNP AKNA ENST00000307564 human ensembl 74_37 -1 known silent c.858 p.R286 0.061 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 tier1 - - 34 0 0.00 13 7 35.00 ALKBH5 0 genome.wustl.edu 37 17 18110203 18110203 + Missense_Mutation SNP A A T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 18110203 18110203 A T SNP ALKBH5 ENST00000399138 human ensembl 74_37 +1 known missense c.926 p.D309V 1.000 NULL NULL - no_errors ALKBH5 HGNC ENSG00000091542 tier1 - - 52 0 0.00 25 6 19.35 ANKRD18B 0 genome.wustl.edu 37 9 33548488 33548488 + Missense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 9 33548488 33548488 C G SNP ANKRD18B ENST00000290943 human ensembl 74_37 +1 known missense c.1516 p.L506V 0.996 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ENSG00000230453 tier1 - - 71 0 0.00 43 30 41.10 AQP12A 0 genome.wustl.edu 37 2 241631539 241631539 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 241631539 241631539 G A SNP AQP12A ENST00000429564 human ensembl 74_37 +1 known missense c.208 p.D70N 0.991 superfamily_Aquaporin-like,pirsf_Aquaporin_11/12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12A HGNC ENSG00000184945 68 0 0.00 48 3 5.88 ARHGAP33 0 genome.wustl.edu 37 19 36270045 36270045 + RNA SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 19 36270045 36270045 C T SNP ARHGAP33 ENST00000221905 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ARHGAP33 HGNC ENSG00000004777 tier1 - - 30 0 0.00 13 6 31.58 ARHGEF9 0 genome.wustl.edu 37 X 62875450 62875450 + Missense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c X 62875450 62875450 C G SNP ARHGEF9 ENST00000253401 human ensembl 74_37 -1 known missense c.1224 p.K408N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 tier1 - - 32 0 0.00 33 4 10.81 ARID1B 0 genome.wustl.edu 37 6 157528050 157528050 + Missense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 6 157528050 157528050 C G SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.5895 p.S1965R 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 ARID1B HGNC ENSG00000049618 44 0 0.00 31 3 8.82 ARSJ 0 genome.wustl.edu 37 4 114823722 114823722 + Missense_Mutation SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 4 114823722 114823722 T C SNP ARSJ ENST00000315366 human ensembl 74_37 -1 known missense c.1508 p.Y503C 0.994 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 tier1 - - 56 0 0.00 61 5 7.58 ARX 0 genome.wustl.edu 37 X 25028418 25028418 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c X 25028418 25028418 C T SNP ARX ENST00000379044 human ensembl 74_37 -1 known missense c.1078 p.E360K 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_Antifreeze_1 - no_errors ARX HGNC ENSG00000004848 tier1 - - 31 0 0.00 36 6 14.29 ASPA 0 genome.wustl.edu 37 17 3384928 3384928 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 3384928 3384928 G T SNP ASPA ENST00000263080 human ensembl 74_37 +1 known missense c.268 p.V90L 1.000 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ASPA HGNC ENSG00000108381 tier1 - - 72 0 0.00 50 4 7.41 ATXN7L1 0 genome.wustl.edu 37 7 105401875 105401875 + Silent SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 7 105401875 105401875 G T SNP ATXN7L1 ENST00000318724 human ensembl 74_37 -1 known silent c.390 p.I130 0.998 NULL NULL - no_errors ATXN7L1 HGNC ENSG00000146776 tier1 - - 126 0 0.00 132 14 9.59 BCAP29 0 genome.wustl.edu 37 7 107258830 107258830 + Missense_Mutation SNP A A G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 7 107258830 107258830 A G SNP BCAP29 ENST00000379119 human ensembl 74_37 +1 known missense c.827 p.N276S 0.000 NULL pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 tier1 - - 53 0 0.00 36 38 51.35 BCAR1 0 genome.wustl.edu 37 16 75271130 75271130 + Missense_Mutation SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 16 75271130 75271130 T C SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.884 p.Y295C 0.997 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 tier1 - - 52 0 0.00 45 9 16.67 BCL9 0 genome.wustl.edu 37 1 147091780 147091780 + Missense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 147091780 147091780 C G SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.1819 p.P607A 0.998 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 tier1 - - 109 0 0.00 89 5 5.32 BCOR 0 genome.wustl.edu 37 X 39909246 39909246 + Splice_Site SNP T T A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c X 39909246 39909246 T A SNP BCOR ENST00000378463 human ensembl 74_37 -1 known splice_site c.1794-2 e10-2 0.003 - - - no_errors BCOR HGNC ENSG00000183337 tier1 - - 52 0 0.00 24 27 52.94 C17orf104 0 genome.wustl.edu 37 17 42745202 42745202 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 42745202 42745202 G T SNP C17orf104 ENST00000409122 human ensembl 74_37 +1 known missense c.1923 p.Q641H 0.997 NULL NULL - no_errors C17orf104 HGNC ENSG00000180336 tier1 - - 41 0 0.00 45 4 8.16 C1GALT1 0 genome.wustl.edu 37 7 7278131 7278131 + Missense_Mutation SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 7 7278131 7278131 G C SNP C1GALT1 ENST00000223122 human ensembl 74_37 +1 known missense c.466 p.E156Q 1.000 pfam_Fringe-like,pfam_Glyco_trans_31 pfam_Fringe-like,pfam_Glyco_trans_31 - no_errors C1GALT1 HGNC ENSG00000106392 tier1 - - 52 0 0.00 39 4 9.30 CA7 0 genome.wustl.edu 37 16 66887278 66887278 + Splice_Site SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 16 66887278 66887278 G C SNP CA7 ENST00000338437 human ensembl 74_37 +1 known splice_site c.673-1 e7-1 1.000 - - - no_errors CA7 HGNC ENSG00000168748 tier1 - - 62 0 0.00 59 5 7.69 CA8 0 genome.wustl.edu 37 8 61178529 61178529 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 8 61178529 61178529 C T SNP CA8 ENST00000317995 human ensembl 74_37 -1 known silent c.372 p.Q124 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA8 HGNC ENSG00000178538 tier1 - - 36 0 0.00 20 10 33.33 CACNA1S 0 genome.wustl.edu 37 1 201042678 201042678 + Missense_Mutation SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 201042678 201042678 T C SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.2156 p.K719R 1.000 prints_VDCC_L_a1ssu pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 tier1 - - 36 0 0.00 22 5 18.52 CAPN13 0 genome.wustl.edu 37 2 31010080 31010080 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 31010080 31010080 C T SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known missense c.112 p.E38K 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 tier1 - - 42 0 0.00 38 9 18.75 CARS 0 genome.wustl.edu 37 11 3022364 3022364 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 11 3022364 3022364 G T SNP CARS ENST00000380525 human ensembl 74_37 -1 known missense c.2476 p.Q826K 0.971 NULL pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 72 0 0.00 38 2 5.00 CCDC102A 0 genome.wustl.edu 37 16 57546752 57546752 + Silent SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 16 57546752 57546752 G A SNP CCDC102A ENST00000258214 human ensembl 74_37 -1 known silent c.1554 p.L518 1.000 NULL NULL - no_errors CCDC102A HGNC ENSG00000135736 tier1 - - 61 0 0.00 50 6 10.71 CCDC113 0 genome.wustl.edu 37 16 58287930 58287930 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 16 58287930 58287930 G A SNP CCDC113 ENST00000219299 human ensembl 74_37 +1 known missense c.257 p.R86Q 0.989 NULL NULL - no_errors CCDC113 HGNC ENSG00000103021 tier1 - - 149 0 0.00 92 12 11.54 CCDC30 0 genome.wustl.edu 37 1 43102995 43102995 + Missense_Mutation SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 43102995 43102995 G C SNP CCDC30 ENST00000340612 human ensembl 74_37 +1 known missense c.1584 p.K528N 0.975 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 35 0 0.00 57 3 5.00 CCDC83 0 genome.wustl.edu 37 11 85597383 85597383 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 11 85597383 85597383 G T SNP CCDC83 ENST00000280245 human ensembl 74_37 +1 known missense c.484 p.V162F 0.864 NULL NULL - no_errors CCDC83 HGNC ENSG00000150676 34 0 0.00 27 2 6.90 CCT5 0 genome.wustl.edu 37 5 10254857 10254857 + Missense_Mutation SNP A A G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 5 10254857 10254857 A G SNP CCT5 ENST00000280326 human ensembl 74_37 +1 known missense c.238 p.M80V 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC ENSG00000150753 tier1 - - 92 0 0.00 50 27 35.06 CDC37L1 0 genome.wustl.edu 37 9 4697769 4697769 + Missense_Mutation SNP A A G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 9 4697769 4697769 A G SNP CDC37L1 ENST00000381854 human ensembl 74_37 +1 known missense c.637 p.M213V 1.000 pfam_Cdc37_Hsp90-bd pfam_Cdc37_Hsp90-bd - no_errors CDC37L1 HGNC ENSG00000106993 52 0 0.00 50 3 5.66 CDC6 0 genome.wustl.edu 37 17 38445741 38445741 + Missense_Mutation SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 38445741 38445741 G C SNP CDC6 ENST00000209728 human ensembl 74_37 +1 known missense c.69 p.L23F 0.000 pirsf_Cell_div_Cdc6/18 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 - no_errors CDC6 HGNC ENSG00000094804 tier1 - - 84 0 0.00 82 10 10.87 CDH10 0 genome.wustl.edu 37 5 24537678 24537678 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 5 24537678 24537678 C T SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.337 p.A113T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 - - 83 0 0.00 62 10 13.89 CEL 0 genome.wustl.edu 37 9 135942474 135942474 + Splice_Site SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 9 135942474 135942474 G T SNP CEL ENST00000372080 human ensembl 74_37 +1 known splice_site c.787-1 e7-1 0.984 - - - no_errors CEL HGNC ENSG00000170835 tier1 - - 78 0 0.00 60 4 6.25 CENPO 0 genome.wustl.edu 37 2 25038427 25038427 + Silent SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 25038427 25038427 G T SNP CENPO ENST00000260662 human ensembl 74_37 +1 known silent c.396 p.G132 0.972 pfam_CENP-O pfam_CENP-O - no_errors CENPO HGNC ENSG00000138092 tier1 - - 78 0 0.00 83 8 8.79 CEP135 0 genome.wustl.edu 37 4 56837473 56837473 + Missense_Mutation SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 4 56837473 56837473 G C SNP CEP135 ENST00000257287 human ensembl 74_37 +1 known missense c.1148 p.S383T 0.202 NULL superfamily_Prefoldin,superfamily_EB1_C - no_errors CEP135 HGNC ENSG00000174799 tier1 - - 47 0 0.00 30 12 28.57 CEP290 0 genome.wustl.edu 37 12 88474063 88474063 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 12 88474063 88474063 G A SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.5128 p.L1710F 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 99 0 0.00 48 5 9.43 CEP290 0 genome.wustl.edu 37 12 88512305 88512305 + Frame_Shift_Del DEL T T - TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 12 88512305 88512305 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.1672 p.I558fs 0.983 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 57 0 0.00 34 10 22.73 CFB 0 genome.wustl.edu 37 6 31914956 31914956 + Silent SNP C C A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 6 31914956 31914956 C A SNP CFB ENST00000556679 human ensembl 74_37 +1 known silent c.1977 p.I659 1.000 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CFB HGNC ENSG00000243649 41 0 0.00 16 3 15.79 CHRNA5 0 genome.wustl.edu 37 15 78882187 78882187 + Missense_Mutation SNP A A T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 15 78882187 78882187 A T SNP CHRNA5 ENST00000299565 human ensembl 74_37 +1 known missense c.454 p.I152F 0.976 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA5 HGNC ENSG00000169684 tier1 - - 92 0 0.00 70 12 14.63 CLCN2 0 genome.wustl.edu 37 3 184075806 184075806 + Missense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 3 184075806 184075806 C G SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known missense c.559 p.A187P 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 tier1 - - 34 0 0.00 9 10 52.63 CNTN1 0 genome.wustl.edu 37 12 41337880 41337880 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 12 41337880 41337880 G T SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.1591 p.D531Y 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 CNTN1 HGNC ENSG00000018236 tier1 - - 51 0 0.00 49 4 7.55 CNTN6 0 genome.wustl.edu 37 3 1363426 1363426 + Missense_Mutation SNP C C A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 3 1363426 1363426 C A SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.854 p.P285Q 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 30 0 0.00 25 3 10.71 COL28A1 0 genome.wustl.edu 37 7 7572463 7572463 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 7 7572463 7572463 G A SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known missense c.44 p.A15V 0.398 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 tier1 - - 13 0 0.00 15 4 21.05 COL2A1 0 genome.wustl.edu 37 12 48380220 48380220 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 12 48380220 48380220 C T SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known missense c.1426 p.A476T 0.999 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 tier1 - - 47 0 0.00 51 9 15.00 COL5A2 0 genome.wustl.edu 37 2 189917478 189917478 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 189917478 189917478 C T SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known silent c.2712 p.P904 0.998 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 tier1 - - 40 0 0.00 32 16 33.33 COMP 0 genome.wustl.edu 37 19 18899660 18899660 + Silent SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 19 18899660 18899660 G A SNP COMP ENST00000222271 human ensembl 74_37 -1 known silent c.591 p.C197 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 31 0 0.00 26 3 10.34 CPED1 0 genome.wustl.edu 37 7 120906460 120906460 + Silent SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 7 120906460 120906460 G A SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known silent c.2490 p.L830 0.995 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 79 0 0.00 51 4 7.27 CSMD2 0 genome.wustl.edu 37 1 34164367 34164367 + Missense_Mutation SNP A A G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 34164367 34164367 A G SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.3911 p.L1304P 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 31 0 0.00 25 8 24.24 CSMD3 0 genome.wustl.edu 37 8 113326823 113326823 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 8 113326823 113326823 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.7384 p.R2462W 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 rs199998952 - 40 0 0.00 39 13 25.00 CTNND1 0 genome.wustl.edu 37 11 57583408 57583408 + Missense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 11 57583408 57583408 C G SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.2830 p.L944V 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 tier1 - - 107 0 0.00 78 6 7.14 CYSLTR2 0 genome.wustl.edu 37 13 49281211 49281211 + Silent SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 13 49281211 49281211 G T SNP CYSLTR2 ENST00000282018 human ensembl 74_37 +1 known silent c.258 p.L86 0.992 pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_Protea_act_rcpt - no_errors CYSLTR2 HGNC ENSG00000152207 tier1 - - 40 0 0.00 25 3 10.71 DCC 0 genome.wustl.edu 37 18 51025708 51025708 + Silent SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 18 51025708 51025708 G C SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3939 p.L1313 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,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 DCC HGNC ENSG00000187323 tier1 - - 104 0 0.00 53 16 23.19 DCHS2 0 genome.wustl.edu 37 4 155226327 155226327 + Missense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 4 155226327 155226327 C G SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.3952 p.E1318Q 0.038 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 30 0 0.00 31 6 16.22 DCHS2 0 genome.wustl.edu 37 4 155298454 155298454 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 4 155298454 155298454 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.377 p.R126K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 53 0 0.00 42 6 12.50 DEPDC7 0 genome.wustl.edu 37 11 33047376 33047376 + Missense_Mutation SNP A A G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 11 33047376 33047376 A G SNP DEPDC7 ENST00000241051 human ensembl 74_37 +1 known missense c.245 p.N82S 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC7 HGNC ENSG00000121690 tier1 - - 83 0 0.00 47 10 17.54 DNAJA3 0 genome.wustl.edu 37 16 4493076 4493076 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 16 4493076 4493076 G A SNP DNAJA3 ENST00000262375 human ensembl 74_37 +1 known missense c.842 p.R281H 0.968 pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,pfscan_HSP_DnaJ_Cys-rich_dom pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA3 HGNC ENSG00000103423 tier1 - - 76 0 0.00 89 8 8.25 DNMT3L 0 genome.wustl.edu 37 21 45668946 45668946 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 21 45668946 45668946 C T SNP DNMT3L ENST00000270172 human ensembl 74_37 -1 known missense c.958 p.A320T 0.035 NULL superfamily_Znf_FYVE_PHD - no_errors DNMT3L HGNC ENSG00000142182 79 0 0.00 51 4 7.27 DPYD 0 genome.wustl.edu 37 1 97771791 97771791 + Frame_Shift_Del DEL A A - TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 97771791 97771791 A - DEL DPYD ENST00000370192 human ensembl 74_37 -1 known frame_shift_del c.2121 p.F707fs 1.000 pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 tier1 33 0 0.00 36 2 5.26 DRC1 0 genome.wustl.edu 37 2 26653551 26653551 + RNA SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 26653551 26653551 T C SNP DRC1 ENST00000483675 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DRC1 HGNC ENSG00000157856 tier1 - - 88 0 0.00 59 15 20.27 DST 0 genome.wustl.edu 37 6 56426280 56426280 + Silent SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 6 56426280 56426280 G C SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.14043 p.L4681 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 79 0 0.00 102 6 5.56 E2F7 0 genome.wustl.edu 37 12 77440035 77440035 + Missense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 12 77440035 77440035 C G SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.612 p.K204N 1.000 pfam_E2F_TDP pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 tier1 - - 78 0 0.00 54 5 8.47 ECEL1 0 genome.wustl.edu 37 2 233347866 233347866 + Silent SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 233347866 233347866 G T SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known silent c.1530 p.V510 0.037 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 tier1 - - 84 0 0.00 57 4 6.56 ECT2L 0 genome.wustl.edu 37 6 139170415 139170415 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 6 139170415 139170415 G A SNP ECT2L ENST00000367682 human ensembl 74_37 +1 known missense c.913 p.E305K 1.000 NULL pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 tier1 - - 78 0 0.00 61 5 7.58 EDC4 0 genome.wustl.edu 37 16 67914539 67914539 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 16 67914539 67914539 G A SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.2177 p.R726H 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 tier1 rs151306360 - 77 0 0.00 60 21 25.61 ENSG00000244327 0 genome.wustl.edu 37 3 142184164 142184164 + RNA DEL A A - TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 3 142184164 142184164 A - DEL ENSG00000244327 ENST00000460977 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 tier1 22 0 0.00 23 3 11.54 EPB41L4A 0 genome.wustl.edu 37 5 111481696 111481696 + Splice_Site SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 5 111481696 111481696 C T SNP EPB41L4A ENST00000507810 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.000 - - - no_errors EPB41L4A HGNC ENSG00000129595 80 0 0.00 54 3 5.17 ESYT1 0 genome.wustl.edu 37 12 56536626 56536626 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 12 56536626 56536626 G A SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known missense c.2926 p.E976K 0.086 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 tier1 - - 42 0 0.00 14 3 17.65 F7 0 genome.wustl.edu 37 13 113765088 113765088 + Missense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 13 113765088 113765088 C G SNP F7 ENST00000375581 human ensembl 74_37 +1 known missense c.215 p.S72C 0.022 pirsf_Pept_S1A_FX,pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F7 HGNC ENSG00000057593 tier1 - - 58 0 0.00 23 7 23.33 FAM149A 0 genome.wustl.edu 37 4 187075717 187075717 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 4 187075717 187075717 G T SNP FAM149A ENST00000356371 human ensembl 74_37 +1 known missense c.1181 p.R394L 0.000 NULL pfam_DUF3719 - no_errors FAM149A HGNC ENSG00000109794 40 0 0.00 54 5 8.47 FAM21C 0 genome.wustl.edu 37 10 46272800 46272800 + Missense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 10 46272800 46272800 C G SNP FAM21C ENST00000374362 human ensembl 74_37 +1 known missense c.2222 p.S741C 0.132 NULL NULL - no_errors FAM21C HGNC ENSG00000172661 tier1 - - 89 0 0.00 77 19 19.79 FAM53C 0 genome.wustl.edu 37 5 137681156 137681156 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 5 137681156 137681156 G T SNP FAM53C ENST00000239906 human ensembl 74_37 +1 known missense c.779 p.W260L 1.000 NULL NULL - no_errors FAM53C HGNC ENSG00000120709 41 0 0.00 36 2 5.26 FAT3 0 genome.wustl.edu 37 11 92532190 92532190 + Missense_Mutation SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 11 92532190 92532190 T C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.6011 p.V2004A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 37 0 0.00 25 20 44.44 FCGR2A 0 genome.wustl.edu 37 1 161487943 161487943 + RNA SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 161487943 161487943 T C SNP FCGR2A ENST00000461298 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors FCGR2A HGNC ENSG00000143226 tier1 - - 36 0 0.00 35 5 12.50 FHOD1 0 genome.wustl.edu 37 16 67265981 67265981 + Silent SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 16 67265981 67265981 G C SNP FHOD1 ENST00000258201 human ensembl 74_37 -1 known silent c.2163 p.L721 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 tier1 - - 105 0 0.00 93 5 5.10 FRMD4A 0 genome.wustl.edu 37 10 13749049 13749049 + Missense_Mutation SNP T T A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 10 13749049 13749049 T A SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known missense c.824 p.H275L 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 tier1 - - 60 0 0.00 35 10 22.22 FUNDC2P2 0 genome.wustl.edu 37 2 84518145 84518145 + RNA SNP A A C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 84518145 84518145 A C SNP FUNDC2P2 ENST00000331369 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FUNDC2P2 HGNC ENSG00000182814 tier1 - - 104 0 0.00 86 14 14.00 GBAP1 0 genome.wustl.edu 37 1 155184051 155184051 + RNA SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 155184051 155184051 G A SNP GBAP1 ENST00000368374 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GBAP1 HGNC ENSG00000160766 tier1 - - 32 0 0.00 21 5 19.23 GLUL 0 genome.wustl.edu 37 1 182357713 182357713 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 182357713 182357713 C T SNP GLUL ENST00000311223 human ensembl 74_37 -1 known missense c.160 p.V54M 0.666 pfam_Gln_synt_beta,superfamily_Gln_synt_beta pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors GLUL HGNC ENSG00000135821 tier1 - - 66 0 0.00 60 10 14.29 GP2 0 genome.wustl.edu 37 16 20335452 20335452 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 16 20335452 20335452 C T SNP GP2 ENST00000381362 human ensembl 74_37 -1 known missense c.221 p.R74Q 1.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors GP2 HGNC ENSG00000169347 tier1 - - 41 0 0.00 30 24 43.64 GREM1 0 genome.wustl.edu 37 15 33022942 33022942 + Silent SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 15 33022942 33022942 C G SNP GREM1 ENST00000300177 human ensembl 74_37 +1 known silent c.51 p.T17 0.998 pirsf_Gremlin_precursor pfam_DAN,smart_Cys_knot_C,pirsf_Gremlin_precursor - no_errors GREM1 HGNC ENSG00000166923 tier1 - - 31 0 0.00 15 5 25.00 H2AFJ 0 genome.wustl.edu 37 12 14927628 14927628 + Missense_Mutation SNP A A G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 12 14927628 14927628 A G SNP H2AFJ ENST00000389078 human ensembl 74_37 +1 known missense c.224 p.K75R 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFJ HGNC ENSG00000246705 tier1 - - 63 0 0.00 50 4 7.41 HCRTR2 0 genome.wustl.edu 37 6 55142326 55142326 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 6 55142326 55142326 G T SNP HCRTR2 ENST00000370862 human ensembl 74_37 +1 known missense c.911 p.R304L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 tier1 - - 46 0 0.00 52 4 7.14 HDAC9 0 genome.wustl.edu 37 7 18633636 18633636 + Missense_Mutation SNP C C A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 7 18633636 18633636 C A SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.648 p.F216L 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 67 0 0.00 70 4 5.41 HERPUD1 0 genome.wustl.edu 37 16 56977366 56977366 + RNA SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 16 56977366 56977366 G A SNP HERPUD1 ENST00000570273 human ensembl 74_37 +1 known rna NULL NULL 0.876 - - - no_errors HERPUD1 HGNC ENSG00000051108 tier1 - - 37 0 0.00 25 4 13.79 HK1 0 genome.wustl.edu 37 10 71144261 71144261 + RNA SNP A A T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 10 71144261 71144261 A T SNP HK1 ENST00000494253 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HK1 HGNC ENSG00000156515 tier1 - - 32 0 0.00 23 12 34.29 HOGA1 0 genome.wustl.edu 37 10 99371273 99371273 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 10 99371273 99371273 C T SNP HOGA1 ENST00000370646 human ensembl 74_37 +1 known missense c.841 p.R281W 0.998 pfam_DapA-like pfam_DapA-like,prints_DapA-like - no_errors HOGA1 HGNC ENSG00000241935 tier1 - - 69 0 0.00 45 11 19.64 HOXB13 0 genome.wustl.edu 37 17 46805780 46805780 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 46805780 46805780 G T SNP HOXB13 ENST00000290295 human ensembl 74_37 -1 known missense c.176 p.P59Q 0.937 pfam_HoxA13_N pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXB13 HGNC ENSG00000159184 93 0 0.00 75 4 5.06 HOXD13 0 genome.wustl.edu 37 2 176958115 176958115 + Missense_Mutation SNP A A G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 176958115 176958115 A G SNP HOXD13 ENST00000392539 human ensembl 74_37 +1 putative missense c.497 p.K166R 1.000 pfam_HoxA13_N pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXD13 HGNC ENSG00000128714 tier1 - - 103 0 0.00 79 6 7.06 HPS5 0 genome.wustl.edu 37 11 18305401 18305401 + Missense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 11 18305401 18305401 C G SNP HPS5 ENST00000349215 human ensembl 74_37 -1 known missense c.2999 p.R1000T 0.982 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 tier1 - - 75 0 0.00 41 5 10.87 ICT1 0 genome.wustl.edu 37 17 73015819 73015819 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 73015819 73015819 G A SNP ICT1 ENST00000301585 human ensembl 74_37 +1 known missense c.248 p.R83Q 0.997 pfam_Pep_chain_release_fac_I_II pfam_Pep_chain_release_fac_I_II - no_errors ICT1 HGNC ENSG00000167862 tier1 - - 102 0 0.00 84 12 12.50 IDH3G 0 genome.wustl.edu 37 X 153051695 153051695 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c X 153051695 153051695 G A SNP IDH3G ENST00000217901 human ensembl 74_37 -1 known missense c.1052 p.A351V 0.999 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3G HGNC ENSG00000067829 tier1 - - 17 0 0.00 3 5 62.50 IFIT1 0 genome.wustl.edu 37 10 91162762 91162762 + Missense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 10 91162762 91162762 C G SNP IFIT1 ENST00000371804 human ensembl 74_37 +1 known missense c.730 p.L244V 0.058 pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1 HGNC ENSG00000185745 tier1 - - 61 0 0.00 42 7 14.29 IL27RA 0 genome.wustl.edu 37 19 14157366 14157366 + Silent SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 19 14157366 14157366 G T SNP IL27RA ENST00000263379 human ensembl 74_37 +1 known silent c.1077 p.G359 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 59 0 0.00 55 4 6.78 INO80B 0 genome.wustl.edu 37 2 74683272 74683272 + Nonsense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 74683272 74683272 C G SNP INO80B ENST00000452361 human ensembl 74_37 +1 known nonsense c.413 p.S138* 0.951 NULL pfam_INO80B_C,pfam_Znf_HIT - no_errors INO80B HGNC ENSG00000115274 tier1 - - 84 0 0.00 70 4 5.41 INTS3 0 genome.wustl.edu 37 1 153746463 153746463 + RNA DEL T T - TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 153746463 153746463 T - DEL INTS3 ENST00000476843 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors INTS3 HGNC ENSG00000143624 tier1 35 0 0.00 28 4 12.50 ITK 0 genome.wustl.edu 37 5 156671337 156671337 + Missense_Mutation SNP T T G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 5 156671337 156671337 T G SNP ITK ENST00000422843 human ensembl 74_37 +1 known missense c.1298 p.L433R 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_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 tier1 - - 63 0 0.00 32 7 17.95 ITPR3 0 genome.wustl.edu 37 6 33653186 33653186 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 6 33653186 33653186 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.5358 p.F1786 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 tier1 - - 51 0 0.00 39 5 11.11 IVD 0 genome.wustl.edu 37 15 40703768 40703768 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 15 40703768 40703768 C T SNP IVD ENST00000487418 human ensembl 74_37 +1 known silent c.574 p.L192 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors IVD HGNC ENSG00000128928 tier1 - - 78 0 0.00 52 8 13.33 KCTD14 0 genome.wustl.edu 37 11 77727683 77727683 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 11 77727683 77727683 C T SNP KCTD14 ENST00000353172 human ensembl 74_37 -1 known missense c.724 p.E242K 0.001 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD14 HGNC ENSG00000151364 tier1 - - 41 0 0.00 26 8 23.53 KCTD8 0 genome.wustl.edu 37 4 44176944 44176944 + Missense_Mutation SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 4 44176944 44176944 T C SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.1285 p.K429E 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 tier1 - - 99 0 0.00 82 6 6.82 KIF26B 0 genome.wustl.edu 37 1 245865807 245865807 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 245865807 245865807 G T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.6226 p.A2076S 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 48 0 0.00 54 3 5.26 KIFAP3 0 genome.wustl.edu 37 1 169947249 169947249 + Missense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 169947249 169947249 C G SNP KIFAP3 ENST00000361580 human ensembl 74_37 -1 known missense c.1874 p.R625T 1.000 superfamily_ARM-type_fold,pfscan_Armadillo superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 tier1 - - 57 0 0.00 59 8 11.94 KMT2D 0 genome.wustl.edu 37 12 49444573 49444573 + Frame_Shift_Del DEL T T - TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 12 49444573 49444573 T - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.2798 p.D933fs 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 45 0 0.00 27 8 22.86 LDHAL6A 0 genome.wustl.edu 37 11 18499176 18499176 + Missense_Mutation SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 11 18499176 18499176 G C SNP LDHAL6A ENST00000280706 human ensembl 74_37 +1 known missense c.720 p.E240D 0.998 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6A HGNC ENSG00000166800 tier1 - - 93 0 0.00 60 6 9.09 LEO1 0 genome.wustl.edu 37 15 52258503 52258503 + Missense_Mutation SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 15 52258503 52258503 T C SNP LEO1 ENST00000299601 human ensembl 74_37 -1 known missense c.257 p.N86S 1.000 NULL pfam_Leo1 - no_errors LEO1 HGNC ENSG00000166477 tier1 - - 63 0 0.00 49 16 24.62 LINC00700 0 genome.wustl.edu 37 10 2056458 2056458 + RNA SNP T T A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 10 2056458 2056458 T A SNP LINC00700 ENST00000413603 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00700 HGNC ENSG00000234962 tier1 - - 76 0 0.00 63 7 10.00 LOC100128006 0 genome.wustl.edu 37 17 12666384 12666384 + RNA SNP C C A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 12666384 12666384 C A SNP LOC100128006 ENST00000584772 human ensembl 74_37 -1 known rna NULL NULL 0.696 - - - no_errors RP11-1090M7.1 Clone_based_vega_gene ENSG00000265489 tier1 - - 32 0 0.00 29 8 21.62 LOC100293748 0 genome.wustl.edu 37 1 149265408 149265411 + RNA DEL TTTG TTTG - TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 TTTG TTTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 149265408 149265411 TTTG - DEL LOC100293748 ENST00000325963 human ensembl 74_37 +1 known rna NULL NULL 0.054:0.053:0.077:0.148 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 tier1 19 0 0.00 24 5 17.24 LOC100653515 0 genome.wustl.edu 37 17 76887157 76887157 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 76887157 76887157 G T SNP LOC100653515 ENST00000322630 human ensembl 74_37 -1 putative missense c.1429 p.L477M 0.000 NULL NULL - no_errors DDC8 Uniprot_gn ENSG00000178404 tier1 - - 48 0 0.00 63 4 5.97 LOC101929274 0 genome.wustl.edu 37 16 11540490 11540490 + Silent SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 16 11540490 11540490 G A SNP LOC101929274 ENST00000344649 human ensembl 74_37 -1 known silent c.1527 p.V509 0.994 NULL NULL - no_errors CTD-3088G3.8 Clone_based_vega_gene ENSG00000188897 tier1 - - 54 0 0.00 54 4 6.90 LOC440040 0 genome.wustl.edu 37 11 49597796 49597796 + RNA SNP A A T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 11 49597796 49597796 A T SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 tier1 - - 54 0 0.00 34 8 19.05 LONP1 0 genome.wustl.edu 37 19 5694527 5694527 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 19 5694527 5694527 C T SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known missense c.2191 p.E731K 0.468 superfamily_P-loop_NTPase,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 tier1 - - 34 0 0.00 12 8 40.00 LRP1B 0 genome.wustl.edu 37 2 141215110 141215110 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 141215110 141215110 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9736 p.A3246T 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 84 0 0.00 47 6 11.32 LRRC43 0 genome.wustl.edu 37 12 122677396 122677396 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 12 122677396 122677396 C T SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known silent c.1194 p.V398 0.000 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 66 0 0.00 49 4 7.55 LRRN3 0 genome.wustl.edu 37 7 110764419 110764419 + Missense_Mutation SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 7 110764419 110764419 G C SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.1591 p.D531H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 tier1 - - 34 0 0.00 37 5 11.90 MAGED1 0 genome.wustl.edu 37 X 51636756 51636756 + RNA SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c X 51636756 51636756 G T SNP MAGED1 ENST00000470461 human ensembl 74_37 +1 known rna NULL NULL 0.551 - - - no_errors MAGED1 HGNC ENSG00000179222 tier1 - - 37 0 0.00 37 11 22.92 MAN1C1 0 genome.wustl.edu 37 1 26104684 26104684 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 26104684 26104684 G T SNP MAN1C1 ENST00000374332 human ensembl 74_37 +1 known missense c.1346 p.G449V 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 tier1 - - 43 0 0.00 17 13 43.33 MGAT4A 0 genome.wustl.edu 37 2 99342758 99342758 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 99342758 99342758 G A SNP MGAT4A ENST00000264968 human ensembl 74_37 -1 known missense c.38 p.A13V 0.991 NULL pfam_Glyco_transf_54 - no_errors MGAT4A HGNC ENSG00000071073 tier1 - - 88 0 0.00 68 18 20.93 MIR3613 0 genome.wustl.edu 37 13 50570574 50570574 + RNA DEL T T - TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 13 50570574 50570574 T - DEL MIR3613 ENST00000579844 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR3613 HGNC ENSG00000264864 tier1 48 0 0.00 26 4 13.33 MIR498 0 genome.wustl.edu 37 19 54177477 54177477 + RNA SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 19 54177477 54177477 G A SNP MIR498 ENST00000385134 human ensembl 74_37 +1 known rna NULL NULL 0.080 - - - no_errors MIR498 HGNC ENSG00000207869 tier1 - - 44 0 0.00 20 13 39.39 MMP11 0 genome.wustl.edu 37 22 24122846 24122846 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 22 24122846 24122846 G A SNP MMP11 ENST00000215743 human ensembl 74_37 +1 known missense c.560 p.R187Q 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP11 HGNC ENSG00000099953 tier1 - - 52 0 0.00 27 5 15.62 MMP20 0 genome.wustl.edu 37 11 102496048 102496048 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 11 102496048 102496048 C T SNP MMP20 ENST00000260228 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP20 HGNC ENSG00000137674 27 0 0.00 19 4 17.39 MOCS3 0 genome.wustl.edu 37 20 49576374 49576374 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 20 49576374 49576374 C T SNP MOCS3 ENST00000244051 human ensembl 74_37 +1 known missense c.995 p.P332L 0.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MOCS3 HGNC ENSG00000124217 tier1 - - 42 0 0.00 34 12 26.09 MOK 0 genome.wustl.edu 37 14 102732205 102732205 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 14 102732205 102732205 C T SNP MOK ENST00000361847 human ensembl 74_37 -1 known missense c.167 p.R56H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MOK HGNC ENSG00000080823 tier1 - - 63 0 0.00 68 19 21.84 MSTO1 0 genome.wustl.edu 37 1 155582929 155582929 + Silent SNP A A G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 155582929 155582929 A G SNP MSTO1 ENST00000245564 human ensembl 74_37 +1 known silent c.1188 p.P396 0.769 NULL pfam_Misato_II_tubulin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase - no_errors MSTO1 HGNC ENSG00000125459 tier1 - - 66 0 0.00 44 10 18.52 MTUS2 0 genome.wustl.edu 37 13 29600389 29600389 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 13 29600389 29600389 G T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.1584 p.K528N 0.029 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 42 0 0.00 28 5 15.15 MUC21 0 genome.wustl.edu 37 6 30955265 30955265 + Missense_Mutation SNP C C G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 6 30955265 30955265 C G SNP MUC21 ENST00000376296 human ensembl 74_37 +1 known missense c.1313 p.S438C 0.004 NULL NULL - no_errors MUC21 HGNC ENSG00000204544 tier1 - - 108 0 0.00 84 8 8.70 MUSK 0 genome.wustl.edu 37 9 113459655 113459655 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 9 113459655 113459655 C T SNP MUSK ENST00000374448 human ensembl 74_37 +1 known silent c.537 p.N179 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 51 0 0.00 54 3 5.26 MYO9B 0 genome.wustl.edu 37 19 17212764 17212764 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 19 17212764 17212764 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known silent c.237 p.D79 0.284 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 30 0 0.00 28 3 9.68 MYO9B 0 genome.wustl.edu 37 19 17316815 17316815 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 19 17316815 17316815 G A SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.5111 p.S1704N 0.989 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 69 0 0.00 47 3 6.00 NBPF15 0 genome.wustl.edu 37 1 148579636 148579636 + Missense_Mutation SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 148579636 148579636 T C SNP NBPF15 ENST00000369187 human ensembl 74_37 +1 known missense c.206 p.F69S 0.009 NULL pfam_NBPF_dom - no_errors NBPF15 HGNC ENSG00000243452 tier1 rs200012164 - 33 0 0.00 20 3 13.04 NDST2 0 genome.wustl.edu 37 10 75564538 75564538 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 10 75564538 75564538 C T SNP NDST2 ENST00000309979 human ensembl 74_37 -1 known silent c.1836 p.Q612 0.999 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 tier1 - - 71 0 0.00 61 6 8.96 NDUFAF7 0 genome.wustl.edu 37 2 37468805 37468805 + Nonsense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 37468805 37468805 C T SNP NDUFAF7 ENST00000002125 human ensembl 74_37 +1 known nonsense c.493 p.Q165* 1.000 pfam_MidA pfam_MidA - no_errors NDUFAF7 HGNC ENSG00000003509 tier1 - - 43 0 0.00 41 6 12.50 NEK7 0 genome.wustl.edu 37 1 198222262 198222262 + Missense_Mutation SNP A A T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 198222262 198222262 A T SNP NEK7 ENST00000367385 human ensembl 74_37 +1 known missense c.150 p.R50S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK7 HGNC ENSG00000151414 tier1 - - 54 0 0.00 37 17 31.48 NKIRAS1 0 genome.wustl.edu 37 3 23942371 23942371 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 3 23942371 23942371 C T SNP NKIRAS1 ENST00000388759 human ensembl 74_37 -1 known silent c.264 p.V88 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NKIRAS1 HGNC ENSG00000197885 tier1 - - 54 0 0.00 53 6 10.17 NLRC3 0 genome.wustl.edu 37 16 3607659 3607659 + Silent SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 16 3607659 3607659 G A SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known silent c.2175 p.I725 0.977 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 tier1 - - 58 0 0.00 42 8 16.00 NPY1R 0 genome.wustl.edu 37 4 164247644 164247644 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 4 164247644 164247644 C T SNP NPY1R ENST00000296533 human ensembl 74_37 -1 known silent c.63 p.K21 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY1R HGNC ENSG00000164128 tier1 - - 39 0 0.00 21 4 16.00 NRXN3 0 genome.wustl.edu 37 14 79434617 79434617 + Silent SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 14 79434617 79434617 T C SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known silent c.3037 p.L1013 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 84 0 0.00 46 7 13.21 OR6B1 0 genome.wustl.edu 37 7 143701769 143701769 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 7 143701769 143701769 G A SNP OR6B1 ENST00000408922 human ensembl 74_37 +1 known missense c.680 p.C227Y 0.016 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B1 HGNC ENSG00000221813 tier1 - - 62 0 0.00 37 16 30.19 OR6C68 0 genome.wustl.edu 37 12 55886520 55886520 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 12 55886520 55886520 G A SNP OR6C68 ENST00000379662 human ensembl 74_37 +1 known missense c.374 p.R125H 0.990 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C68 HGNC ENSG00000205327 tier1 rs145845899 - 71 0 0.00 45 11 19.64 OSBPL9 0 genome.wustl.edu 37 1 52246895 52246895 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 52246895 52246895 C T SNP OSBPL9 ENST00000371710 human ensembl 74_37 +1 known missense c.1370 p.S457L 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 67 0 0.00 57 3 5.00 PALM2-AKAP2 0 genome.wustl.edu 37 9 112900341 112900341 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 9 112900341 112900341 G T SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.2517 p.E839D 0.985 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 19 0 0.00 16 2 11.11 PARP9 0 genome.wustl.edu 37 3 122255181 122255181 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 3 122255181 122255181 C T SNP PARP9 ENST00000360356 human ensembl 74_37 -1 known silent c.2019 p.K673 0.000 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 tier1 - - 70 0 0.00 71 6 7.79 PCDHB10 0 genome.wustl.edu 37 5 140574310 140574310 + Missense_Mutation SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 5 140574310 140574310 G C SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.2185 p.V729L 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 tier1 - - 133 0 0.00 77 8 9.41 PCSK5 0 genome.wustl.edu 37 9 78973602 78973602 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 9 78973602 78973602 G T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.5347 p.A1783S 0.270 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 tier1 - - 52 0 0.00 29 7 19.44 PDP1 0 genome.wustl.edu 37 8 94934978 94934978 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 8 94934978 94934978 G A SNP PDP1 ENST00000396200 human ensembl 74_37 +1 known missense c.766 p.D256N 1.000 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 PDP1 HGNC ENSG00000164951 29 0 0.00 33 3 8.33 PI4KA 0 genome.wustl.edu 37 22 21119944 21119944 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 22 21119944 21119944 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.2366 p.P789L 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 67 0 0.00 32 5 13.51 PLAT 0 genome.wustl.edu 37 8 42038181 42038181 + Nonsense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 8 42038181 42038181 G T SNP PLAT ENST00000220809 human ensembl 74_37 -1 known nonsense c.912 p.Y304* 0.002 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAT HGNC ENSG00000104368 29 0 0.00 15 2 11.76 PLEKHG3 0 genome.wustl.edu 37 14 65210415 65210415 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 14 65210415 65210415 C T SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known silent c.3654 p.V1218 0.001 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 tier1 - - 53 0 0.00 33 8 19.51 PLXNA2 0 genome.wustl.edu 37 1 208391109 208391109 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 208391109 208391109 C T SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known silent c.159 p.L53 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 tier1 - - 58 0 0.00 42 6 12.24 POGZ 0 genome.wustl.edu 37 1 151396497 151396497 + Missense_Mutation SNP A A G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 151396497 151396497 A G SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.1451 p.L484P 0.998 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 tier1 - - 76 0 0.00 58 18 23.68 PROB1 0 genome.wustl.edu 37 5 138727840 138727840 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 5 138727840 138727840 C T SNP PROB1 ENST00000434752 human ensembl 74_37 -1 known silent c.2931 p.G977 0.971 NULL NULL - no_errors PROB1 HGNC ENSG00000228672 16 0 0.00 3 3 50.00 PRRC1 0 genome.wustl.edu 37 5 126860507 126860507 + Missense_Mutation SNP A A G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 5 126860507 126860507 A G SNP PRRC1 ENST00000512635 human ensembl 74_37 +1 known missense c.388 p.I130V 0.010 NULL pfam_NTPase/PRRC1 - no_errors PRRC1 HGNC ENSG00000164244 tier1 - - 97 0 0.00 85 10 10.53 PRSS35 0 genome.wustl.edu 37 6 84234264 84234264 + Silent SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 6 84234264 84234264 G T SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known silent c.1104 p.A368 0.007 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 tier1 - - 33 0 0.00 13 3 18.75 PSPN 0 genome.wustl.edu 37 19 6375764 6375764 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 19 6375764 6375764 C T SNP PSPN ENST00000245810 human ensembl 74_37 -1 known missense c.97 p.D33N 0.007 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors PSPN HGNC ENSG00000125650 tier1 - - 80 0 0.00 42 5 10.64 PTPRM 0 genome.wustl.edu 37 18 8378361 8378361 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 18 8378361 8378361 G A SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.3564 p.M1188I 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 tier1 - - 64 0 0.00 79 7 8.14 PTPRZ1 0 genome.wustl.edu 37 7 121650691 121650691 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 7 121650691 121650691 G T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.1591 p.V531L 0.026 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 67 0 0.00 28 4 12.50 RAP2C 0 genome.wustl.edu 37 X 131348451 131348451 + Missense_Mutation SNP T T A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c X 131348451 131348451 T A SNP RAP2C ENST00000342983 human ensembl 74_37 -1 known missense c.297 p.Q99H 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC ENSG00000123728 tier1 - - 34 0 0.00 25 13 34.21 RBBP5 0 genome.wustl.edu 37 1 205068124 205068124 + Missense_Mutation SNP C C A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 205068124 205068124 C A SNP RBBP5 ENST00000264515 human ensembl 74_37 -1 known missense c.1089 p.E363D 1.000 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP5 HGNC ENSG00000117222 tier1 - - 58 0 0.00 35 9 20.45 RCC2 0 genome.wustl.edu 37 1 17747270 17747270 + Missense_Mutation SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 17747270 17747270 T C SNP RCC2 ENST00000375433 human ensembl 74_37 -1 known missense c.799 p.M267V 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors RCC2 HGNC ENSG00000179051 tier1 - - 29 0 0.00 34 5 12.82 RELN 0 genome.wustl.edu 37 7 103151393 103151393 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 7 103151393 103151393 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.8179 p.D2727N 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 64 0 0.00 63 6 8.70 RHCE 0 genome.wustl.edu 37 1 25689023 25689023 + Missense_Mutation SNP A A G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 25689023 25689023 A G SNP RHCE ENST00000294413 human ensembl 74_37 -1 known missense c.1249 p.F417L 0.995 NULL pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCE HGNC ENSG00000188672 tier1 - - 57 0 0.00 46 6 11.54 RND2 0 genome.wustl.edu 37 17 41180632 41180632 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 41180632 41180632 C T SNP RND2 ENST00000544533 human ensembl 74_37 +1 known missense c.622 p.R208W 0.984 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND2 HGNC ENSG00000108830 68 0 0.00 52 3 5.45 RNF148 0 genome.wustl.edu 37 7 122342397 122342397 + Silent SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 7 122342397 122342397 G T SNP RNF148 ENST00000434824 human ensembl 74_37 -1 known silent c.408 p.G136 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 tier1 - - 99 0 0.00 55 4 6.78 RNF43 0 genome.wustl.edu 37 17 56438273 56438273 + Silent SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 56438273 56438273 G A SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known silent c.720 p.I240 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 tier1 - - 40 0 0.00 43 9 17.31 RNPC3 0 genome.wustl.edu 37 1 104093612 104093612 + Missense_Mutation SNP A A C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 104093612 104093612 A C SNP RNPC3 ENST00000423855 human ensembl 74_37 +1 known missense c.1411 p.I471L 0.999 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 tier1 - - 40 0 0.00 19 6 24.00 RP1L1 0 genome.wustl.edu 37 8 10469643 10469643 + Silent SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 8 10469643 10469643 G T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.1965 p.G655 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 38 0 0.00 18 4 18.18 RP2 0 genome.wustl.edu 37 X 46696586 46696586 + Silent SNP C C A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c X 46696586 46696586 C A SNP RP2 ENST00000218340 human ensembl 74_37 +1 known silent c.51 p.P17 0.853 pirsf_Protein_XRP2 pfam_Tubulin-bd_cofactor_C_dom,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 - no_errors RP2 HGNC ENSG00000102218 tier1 - - 46 0 0.00 51 6 10.53 RRAGB 0 genome.wustl.edu 37 X 55748670 55748670 + Missense_Mutation SNP A A T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c X 55748670 55748670 A T SNP RRAGB ENST00000262850 human ensembl 74_37 +1 known missense c.178 p.I60F 1.000 pfam_Gtr1_RagA,superfamily_P-loop_NTPase pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase - no_errors RRAGB HGNC ENSG00000083750 tier1 - - 33 0 0.00 34 8 19.05 RRP15 0 genome.wustl.edu 37 1 218480940 218480940 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 218480940 218480940 C T SNP RRP15 ENST00000366932 human ensembl 74_37 +1 known missense c.671 p.T224I 0.003 NULL pfam_DUF1665 - no_errors RRP15 HGNC ENSG00000067533 tier1 - - 70 0 0.00 37 29 43.94 RTN4RL1 0 genome.wustl.edu 37 17 1840731 1840731 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 1840731 1840731 C T SNP RTN4RL1 ENST00000331238 human ensembl 74_37 -1 known missense c.385 p.A129T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 tier1 - - 42 0 0.00 24 4 14.29 SAPCD1 0 genome.wustl.edu 37 6 31731219 31731219 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 6 31731219 31731219 G A SNP SAPCD1 ENST00000415669 human ensembl 74_37 +1 known missense c.142 p.E48K 0.230 pfam_APC_dom pfam_APC_dom - no_errors SAPCD1 HGNC ENSG00000228727 tier1 - - 68 0 0.00 58 4 6.45 SCAPER 0 genome.wustl.edu 37 15 76673829 76673829 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 15 76673829 76673829 G T SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known missense c.3595 p.P1199T 0.998 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 tier1 - - 51 0 0.00 25 4 13.79 SEC24C 0 genome.wustl.edu 37 10 75525889 75525889 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 10 75525889 75525889 G T SNP SEC24C ENST00000339365 human ensembl 74_37 +1 known missense c.1528 p.V510F 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 tier1 - - 78 0 0.00 93 7 7.00 SELE 0 genome.wustl.edu 37 1 169696946 169696946 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 169696946 169696946 G T SNP SELE ENST00000333360 human ensembl 74_37 -1 known missense c.1402 p.H468N 0.002 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 39 0 0.00 37 2 5.13 SEMA4C 0 genome.wustl.edu 37 2 97530540 97530540 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 97530540 97530540 C T SNP SEMA4C ENST00000305476 human ensembl 74_37 -1 known silent c.864 p.P288 0.015 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 tier1 rs141614070 - 69 0 0.00 54 10 15.62 SENP3-EIF4A1 0 genome.wustl.edu 37 17 7481906 7481907 + RNA INS - - T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 7481906 7481907 - T INS SENP3-EIF4A1 ENST00000579777 human ensembl 74_37 +1 known rna NULL NULL 0.349:0.653 - - - no_errors SENP3-EIF4A1 HGNC ENSG00000265500 tier1 49 0 0.00 28 3 9.68 SENP6 0 genome.wustl.edu 37 6 76376449 76376449 + Missense_Mutation SNP A A T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 6 76376449 76376449 A T SNP SENP6 ENST00000370014 human ensembl 74_37 +1 known missense c.1016 p.D339V 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 15 0 0.00 9 2 18.18 SERPING1 0 genome.wustl.edu 37 11 57373936 57373936 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 11 57373936 57373936 C T SNP SERPING1 ENST00000278407 human ensembl 74_37 +1 known silent c.945 p.F315 0.002 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC ENSG00000149131 tier1 - - 66 0 0.00 46 10 17.86 SH3GL2 0 genome.wustl.edu 37 9 17761480 17761480 + Missense_Mutation SNP A A T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 9 17761480 17761480 A T SNP SH3GL2 ENST00000380607 human ensembl 74_37 +1 known missense c.160 p.T54S 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3GL2 HGNC ENSG00000107295 tier1 - - 132 0 0.00 110 8 6.78 SLC35G5 0 genome.wustl.edu 37 8 11188922 11188922 + Missense_Mutation SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 8 11188922 11188922 T C SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known missense c.307 p.W103R 0.984 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 102 0 0.00 73 10 12.05 SLC39A4 0 genome.wustl.edu 37 8 145640648 145640648 + Silent SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 8 145640648 145640648 G A SNP SLC39A4 ENST00000301305 human ensembl 74_37 -1 known silent c.630 p.F210 0.103 NULL pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 tier1 - - 23 0 0.00 25 11 30.56 SLC4A9 0 genome.wustl.edu 37 5 139743984 139743984 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 5 139743984 139743984 G T SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known missense c.1497 p.W499C 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 tier1 - - 98 0 0.00 67 4 5.63 SLC7A7 0 genome.wustl.edu 37 14 23245096 23245096 + Nonsense_Mutation SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 14 23245096 23245096 G C SNP SLC7A7 ENST00000285850 human ensembl 74_37 -1 known nonsense c.944 p.S315* 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A7 HGNC ENSG00000155465 tier1 - - 36 0 0.00 14 4 22.22 SLITRK2 0 genome.wustl.edu 37 X 144904330 144904330 + Silent SNP C C A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c X 144904330 144904330 C A SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known silent c.387 p.T129 0.552 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 tier1 - - 28 0 0.00 37 5 11.90 SMPD3 0 genome.wustl.edu 37 16 68405671 68405671 + Silent SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 16 68405671 68405671 G T SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known silent c.414 p.L138 0.988 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 47 0 0.00 29 2 6.45 SNORD115-11 0 genome.wustl.edu 37 15 25434591 25434591 + RNA SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 15 25434591 25434591 G A SNP SNORD115-11 ENST00000363616 human ensembl 74_37 +1 known rna NULL NULL 0.093 - - - no_errors SNORD115-11 HGNC ENSG00000200486 84 0 0.00 52 3 5.45 SORL1 0 genome.wustl.edu 37 11 121340776 121340776 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 11 121340776 121340776 G T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.346 p.V116L 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 50 0 0.00 27 2 6.90 STON2 0 genome.wustl.edu 37 14 81744226 81744226 + Nonsense_Mutation SNP C C A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 14 81744226 81744226 C A SNP STON2 ENST00000267540 human ensembl 74_37 -1 known nonsense c.1429 p.E477* 1.000 pirsf_Stonin,pfscan_SHD pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 tier1 - - 50 0 0.00 49 5 9.26 STON2 0 genome.wustl.edu 37 14 81744227 81744227 + Silent SNP C C A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 14 81744227 81744227 C A SNP STON2 ENST00000267540 human ensembl 74_37 -1 known silent c.1428 p.L476 0.998 pirsf_Stonin,pfscan_SHD pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 tier1 - - 50 0 0.00 49 5 9.26 STRIP1 0 genome.wustl.edu 37 1 110590208 110590208 + Missense_Mutation SNP A A T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 110590208 110590208 A T SNP STRIP1 ENST00000369795 human ensembl 74_37 +1 known missense c.1533 p.Q511H 1.000 pfam_DUF3402 pfam_DUF3402,pfam_N1221 - no_errors STRIP1 HGNC ENSG00000143093 tier1 - - 48 0 0.00 39 10 20.00 SUV420H2 0 genome.wustl.edu 37 19 55855145 55855145 + Missense_Mutation SNP A A T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 19 55855145 55855145 A T SNP SUV420H2 ENST00000255613 human ensembl 74_37 +1 known missense c.484 p.I162F 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H2 HGNC ENSG00000133247 tier1 - - 41 0 0.00 27 4 12.90 TAF3 0 genome.wustl.edu 37 10 8006229 8006229 + Silent SNP T T A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 10 8006229 8006229 T A SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known silent c.756 p.V252 0.951 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 tier1 - - 27 0 0.00 23 4 14.81 TANGO2 0 genome.wustl.edu 37 22 20049072 20049072 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 22 20049072 20049072 C T SNP TANGO2 ENST00000456048 human ensembl 74_37 +1 known silent c.486 p.N162 0.679 pfam_DUF833 pfam_DUF833 - no_errors TANGO2 HGNC ENSG00000183597 tier1 rs148730599 - 51 0 0.00 34 6 15.00 TCTEX1D2 0 genome.wustl.edu 37 3 196044938 196044938 + Missense_Mutation SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 3 196044938 196044938 T C SNP TCTEX1D2 ENST00000325318 human ensembl 74_37 -1 known missense c.86 p.Y29C 0.992 NULL pfam_Tctex - no_errors TCTEX1D2 HGNC ENSG00000213123 tier1 - - 60 0 0.00 52 9 14.75 TECRL 0 genome.wustl.edu 37 4 65180404 65180404 + Silent SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 4 65180404 65180404 T C SNP TECRL ENST00000381210 human ensembl 74_37 -1 known silent c.513 p.G171 0.005 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 tier1 - - 30 0 0.00 19 12 38.71 TEX10 0 genome.wustl.edu 37 9 103108464 103108464 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 9 103108464 103108464 G T SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known missense c.1027 p.P343T 0.006 superfamily_ARM-type_fold pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 tier1 - - 44 0 0.00 17 3 15.00 TJP1 0 genome.wustl.edu 37 15 30012102 30012102 + Frame_Shift_Del DEL G G - TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 15 30012102 30012102 G - DEL TJP1 ENST00000346128 human ensembl 74_37 -1 known frame_shift_del c.2882 p.P961fs 0.342 NULL pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 tier1 85 0 0.00 35 14 28.57 TMC4 0 genome.wustl.edu 37 19 54669176 54669176 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 19 54669176 54669176 G A SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.922 p.R308C 0.565 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 50 0 0.00 26 3 10.34 TMEM95 0 genome.wustl.edu 37 17 7259742 7259742 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 7259742 7259742 G T SNP TMEM95 ENST00000389982 human ensembl 74_37 +1 known missense c.433 p.A145S 0.997 NULL NULL - no_errors TMEM95 HGNC ENSG00000182896 tier1 - - 58 0 0.00 44 4 8.33 TP53 0 genome.wustl.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 7574003 7574003 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.1024 p.R342* 0.307 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 16 0 0.00 8 7 46.67 TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 7578190 7578190 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.659 p.Y220C 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 72 0 0.00 37 6 13.95 TRANK1 0 genome.wustl.edu 37 3 36900302 36900302 + Missense_Mutation SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 3 36900302 36900302 G C SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.1447 p.L483V 0.984 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 46 0 0.00 20 4 16.67 TRERF1 0 genome.wustl.edu 37 6 42233492 42233492 + Nonsense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 6 42233492 42233492 G T SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known nonsense c.1481 p.S494* 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 47 0 0.00 68 4 5.56 TRIP12 0 genome.wustl.edu 37 2 230656615 230656615 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 230656615 230656615 C T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.4157 p.R1386K 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 tier1 - - 51 0 0.00 36 4 9.76 TRPM6 0 genome.wustl.edu 37 9 77377554 77377554 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 9 77377554 77377554 G A SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.4033 p.L1345F 0.998 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 19 0 0.00 17 3 15.00 TSPY10 0 genome.wustl.edu 37 Y 9368183 9368183 + RNA SNP T T G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c Y 9368183 9368183 T G SNP TSPY10 ENST00000489397 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TSPY10 HGNC ENSG00000236424 tier1 - - 142 0 0.00 128 33 20.50 TXNDC2 0 genome.wustl.edu 37 18 9887037 9887037 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 18 9887037 9887037 C T SNP TXNDC2 ENST00000306084 human ensembl 74_37 +1 known silent c.561 p.I187 0.000 pfam_Glutenin pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 tier1 - - 74 0 0.00 82 7 7.87 UGT1A6 0 genome.wustl.edu 37 2 234602073 234602073 + Missense_Mutation SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 234602073 234602073 G C SNP UGT1A6 ENST00000305139 human ensembl 74_37 +1 known missense c.423 p.E141D 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A6 HGNC ENSG00000167165 tier1 - - 66 0 0.00 35 13 27.08 USP5 0 genome.wustl.edu 37 12 6970267 6970267 + Missense_Mutation SNP A A G TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 12 6970267 6970267 A G SNP USP5 ENST00000229268 human ensembl 74_37 +1 known missense c.1495 p.K499E 1.000 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP5 HGNC ENSG00000111667 tier1 - - 42 0 0.00 43 8 15.69 UTY 0 genome.wustl.edu 37 Y 15591138 15591138 + Missense_Mutation SNP C C A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c Y 15591138 15591138 C A SNP UTY ENST00000382896 human ensembl 74_37 -1 known missense c.212 p.G71V 1.000 NULL pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UTY HGNC ENSG00000183878 tier1 - - 27 0 0.00 31 4 11.43 VAV1 0 genome.wustl.edu 37 19 6833625 6833625 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 19 6833625 6833625 G A SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.1697 p.R566Q 0.665 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 tier1 - - 142 0 0.00 60 31 34.07 VCAN 0 genome.wustl.edu 37 5 82838084 82838084 + Missense_Mutation SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 5 82838084 82838084 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.9262 p.P3088S 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 19 0 0.00 11 2 15.38 VPS16 0 genome.wustl.edu 37 20 2846872 2846872 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 20 2846872 2846872 C T SNP VPS16 ENST00000380445 human ensembl 74_37 +1 known silent c.2286 p.I762 1.000 pfam_Vps16_C,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC ENSG00000215305 tier1 - - 116 0 0.00 71 9 11.25 VPS39 0 genome.wustl.edu 37 15 42470518 42470518 + Silent SNP C C A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 15 42470518 42470518 C A SNP VPS39 ENST00000348544 human ensembl 74_37 -1 known silent c.891 p.V297 1.000 smart_Citron pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 tier1 - - 32 0 0.00 13 8 38.10 WDFY2 0 genome.wustl.edu 37 13 52333896 52333896 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 13 52333896 52333896 C T SNP WDFY2 ENST00000298125 human ensembl 74_37 +1 known silent c.1194 p.V398 0.002 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY2 HGNC ENSG00000139668 52 0 0.00 23 3 11.54 WDR26 0 genome.wustl.edu 37 1 224581656 224581656 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 224581656 224581656 G T SNP WDR26 ENST00000414423 human ensembl 74_37 -1 known missense c.1834 p.H612N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR26 HGNC ENSG00000162923 tier1 - - 53 0 0.00 65 4 5.80 XIRP2 0 genome.wustl.edu 37 2 168099825 168099825 + Missense_Mutation SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 2 168099825 168099825 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.1923 p.E641D 0.771 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 63 0 0.00 51 3 5.56 XYLT1 0 genome.wustl.edu 37 16 17202585 17202585 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 16 17202585 17202585 C T SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known silent c.2847 p.L949 1.000 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 tier1 - - 25 0 0.00 27 5 15.62 ZBTB16 0 genome.wustl.edu 37 11 114027093 114027093 + Missense_Mutation SNP G G A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 11 114027093 114027093 G A SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.1303 p.E435K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 tier1 - - 91 0 0.00 65 4 5.80 ZBTB7B 0 genome.wustl.edu 37 1 154975307 154975307 + RNA SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 154975307 154975307 C T SNP ZBTB7B ENST00000487542 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZBTB7B HGNC ENSG00000160685 tier1 - - 27 0 0.00 17 4 19.05 ZDHHC11B 0 genome.wustl.edu 37 5 712139 712139 + RNA SNP T T A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 5 712139 712139 T A SNP ZDHHC11B ENST00000522356 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 rs111351502 - 26 0 0.00 8 3 27.27 ZFP42 0 genome.wustl.edu 37 4 188924012 188924012 + Silent SNP G G T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 4 188924012 188924012 G T SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known silent c.51 p.L17 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 tier1 - - 53 0 0.00 40 13 24.53 ZNF324 0 genome.wustl.edu 37 19 58983245 58983245 + Missense_Mutation SNP C C A TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 19 58983245 58983245 C A SNP ZNF324 ENST00000196482 human ensembl 74_37 +1 known missense c.1386 p.F462L 0.097 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 ZNF324 HGNC ENSG00000083812 tier1 - - 50 0 0.00 31 5 13.89 ZNF337 0 genome.wustl.edu 37 20 25657230 25657231 + Frame_Shift_Ins INS - - TG TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 20 25657230 25657231 - TG INS ZNF337 ENST00000252979 human ensembl 74_37 -1 known frame_shift_ins c.694_693 p.G231fs 0.950:0.945 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 ZNF337 HGNC ENSG00000130684 tier1 70 0 0.00 82 12 12.77 ZNF609 0 genome.wustl.edu 37 15 64966881 64966881 + Missense_Mutation SNP G G C TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 15 64966881 64966881 G C SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known missense c.1828 p.D610H 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 15 0 0.00 14 3 17.65 ZNF644 0 genome.wustl.edu 37 1 91406272 91406272 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 1 91406272 91406272 C T SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known silent c.639 p.K213 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 52 0 0.00 47 3 5.88 ZNF750 0 genome.wustl.edu 37 17 80790319 80790320 + Frame_Shift_Ins INS - - AA TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 17 80790319 80790320 - AA INS ZNF750 ENST00000269394 human ensembl 74_37 -1 known frame_shift_ins c.12_11 p.K5fs 0.970:0.933 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 tier1 121 0 0.00 68 26 27.66 ZSCAN1 0 genome.wustl.edu 37 19 58565137 58565137 + Silent SNP C C T TCGA-LN-A49S-01A-11D-A247-09 TCGA-LN-A49S-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f510b615-094d-4ea3-8f92-09e80905a379 09fb63d6-c76c-4429-9bf7-e7479c4b834c 19 58565137 58565137 C T SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known silent c.945 p.R315 0.023 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 tier1 - - 42 0 0.00 19 6 24.00