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 ANKRD34A 0 genome.wustl.edu 37 1 145474330 145474330 + Silent SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 145474330 145474330 C T SNP ANKRD34A ENST00000323397 human ensembl 74_37 +1 known silent c.1002 p.S334 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 30 0 0 31 7 18.4211 RPTN 0 genome.wustl.edu 37 1 152128681 152128681 + Silent SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 152128681 152128681 C T SNP RPTN ENST00000316073 human ensembl 74_37 -1 known silent c.894 p.T298 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors RPTN HGNC ENSG00000215853 735 2 0.27137 652 102 13.5279 SPTA1 0 genome.wustl.edu 37 1 158623143 158623143 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 158623143 158623143 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3109 p.D1037N 0.994 superfamily_SH3_domain,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 97 0 0 99 17 14.6552 BRINP2 0 genome.wustl.edu 37 1 177199156 177199156 + Silent SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 177199156 177199156 C T SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known silent c.144 p.S48 0.272 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 65 0 0 53 7 11.6667 EPHA8 0 genome.wustl.edu 37 1 22924249 22924249 + Missense_Mutation SNP G G T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 22924249 22924249 G T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.2011 p.A671S 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 89 0 0 84 13 13.4021 HNRNPR 0 genome.wustl.edu 37 1 23637402 23637402 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 23637402 23637402 G A SNP HNRNPR ENST00000374616 human ensembl 74_37 -1 known missense c.1456 p.R486C 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 142 0 0 127 24 15.894 RPS6KA1 0 genome.wustl.edu 37 1 26898396 26898396 + Silent SNP G G T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 26898396 26898396 G T SNP RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known silent c.1836 p.L612 0.995 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 25 0 0 24 7 22.5806 ARID1A 0 genome.wustl.edu 37 1 27107151 27107151 + Nonsense_Mutation SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 27107151 27107151 C A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.6762 p.Y2254* 0.857 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 110 0 0 98 30 23.4375 KIAA0754 0 genome.wustl.edu 37 1 39877622 39877622 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 39877622 39877622 G A SNP KIAA0754 ENST00000530275 human ensembl 74_37 +1 known missense c.1277 p.R426K 0.753 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 87 0 0 77 14 15.3846 UQCRH 0 genome.wustl.edu 37 1 46782256 46782256 + Silent SNP A A G TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 46782256 46782256 A G SNP UQCRH ENST00000311672 human ensembl 74_37 +1 known silent c.276 p.*92 0.990 NULL pfam_Ubol_cytC_Rdtase_hinge_dom,superfamily_Ubol_cytC_Rdtase_hinge_dom - no_errors UQCRH HGNC ENSG00000173660 119 0 0 132 14 9.58904 NEGR1 0 genome.wustl.edu 37 1 72058615 72058615 + Missense_Mutation SNP A A C TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 72058615 72058615 A C SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known missense c.825 p.N275K 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NEGR1 HGNC ENSG00000172260 49 0 0 50 10 16.6667 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74836071 74836071 + Missense_Mutation SNP G G T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 74836071 74836071 G T SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.2109 p.L703F 0.996 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 30 0 0 49 5 9.25926 C1orf173 0 genome.wustl.edu 37 1 75037596 75037596 + Silent SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 75037596 75037596 G A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known silent c.3798 p.V1266 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 152 0 0 132 22 14.2857 PKN2 0 genome.wustl.edu 37 1 89236101 89236101 + Nonsense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 89236101 89236101 C T SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known nonsense c.571 p.R191* 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 71 0 0 80 15 15.7895 CUEDC2 0 genome.wustl.edu 37 10 104184490 104184490 + Nonsense_Mutation SNP G G T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 10 104184490 104184490 G T SNP CUEDC2 ENST00000369937 human ensembl 74_37 -1 known nonsense c.134 p.S45* 0.992 NULL pfam_CUE,superfamily_UBA-like,pfscan_CUE - no_errors CUEDC2 HGNC ENSG00000107874 95 0 0 98 7 6.66667 CTBP2 0 genome.wustl.edu 37 10 126715832 126715832 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 10 126715832 126715832 C T SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.497 p.R166Q 1.000 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 53 0 0 42 4 8.69565 STK32C 0 genome.wustl.edu 37 10 134021591 134021591 + Nonsense_Mutation SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 10 134021591 134021591 C A SNP STK32C ENST00000368625 human ensembl 74_37 -1 known nonsense c.1423 p.E475* 0.140 NULL 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 STK32C HGNC ENSG00000165752 23 0 0 29 2 6.45161 ABI1 0 genome.wustl.edu 37 10 27040626 27040626 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 10 27040626 27040626 G A SNP ABI1 ENST00000355394 human ensembl 74_37 -1 known missense c.1255 p.P419S 0.999 superfamily_SH3_domain 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 56 0 0 58 7 10.7692 PCDH15 0 genome.wustl.edu 37 10 55569287 55569287 + Nonsense_Mutation SNP T T A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 10 55569287 55569287 T A SNP PCDH15 ENST00000409834 human ensembl 74_37 -1 putative nonsense c.3406 p.K1136* 0.992 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 216 0 0 239 22 8.42912 PDGFD 0 genome.wustl.edu 37 11 103797732 103797732 + Missense_Mutation SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 11 103797732 103797732 C A SNP PDGFD ENST00000393158 human ensembl 74_37 -1 known missense c.895 p.V299L 0.999 pfam_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFD HGNC ENSG00000170962 60 0 0 67 4 5.6338 TECTA 0 genome.wustl.edu 37 11 121028582 121028582 + Silent SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 11 121028582 121028582 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.4338 p.T1446 0.996 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 72 0 0 82 10 10.8696 IGSF9B 0 genome.wustl.edu 37 11 133801565 133801565 + Silent SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 11 133801565 133801565 C A SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known silent c.1236 p.A412 0.913 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 27 0 0 27 2 6.89655 NCAPD3 0 genome.wustl.edu 37 11 134062600 134062600 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 11 134062600 134062600 C T SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.2029 p.E677K 0.995 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 82 0 0 68 13 16.0494 OR4C13 0 genome.wustl.edu 37 11 49974543 49974543 + Missense_Mutation SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 11 49974543 49974543 C A SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known missense c.569 p.T190N 0.413 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 150 0 0 151 21 12.2093 OR51Q1 0 genome.wustl.edu 37 11 5443929 5443929 + Nonsense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 11 5443929 5443929 C T SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known nonsense c.499 p.R167* 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51Q1 HGNC ENSG00000167360 245 0 0 234 26 10 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 99 0 0 104 8 7.14286 TRIM3 0 genome.wustl.edu 37 11 6478559 6478559 + Silent SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 11 6478559 6478559 G A SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known silent c.663 p.S221 0.985 smart_Bbox_C pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 125 0 0 135 19 12.3377 MAP3K11 0 genome.wustl.edu 37 11 65374207 65374207 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 11 65374207 65374207 C T SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known missense c.1558 p.G520R 0.784 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 107 0 0 107 19 15.0794 CABP2 0 genome.wustl.edu 37 11 67287547 67287547 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 11 67287547 67287547 C T SNP CABP2 ENST00000294288 human ensembl 74_37 -1 known missense c.464 p.R155Q 0.994 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP2 HGNC ENSG00000167791 39 0 0 42 4 8.69565 CPT1A 0 genome.wustl.edu 37 11 68560791 68560791 + Missense_Mutation SNP T T C TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 11 68560791 68560791 T C SNP CPT1A ENST00000265641 human ensembl 74_37 -1 known missense c.959 p.E320G 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 16 0 0 16 4 20 FOLH1B 0 genome.wustl.edu 37 11 89424640 89424640 + RNA SNP T T A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 11 89424640 89424640 T A SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 76 0 0 61 10 14.0845 HEPHL1 0 genome.wustl.edu 37 11 93796676 93796676 + Missense_Mutation SNP G G T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 11 93796676 93796676 G T SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.418 p.A140S 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 16 0 0 11 3 21.4286 POLR3B 0 genome.wustl.edu 37 12 106897897 106897897 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 12 106897897 106897897 G A SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known missense c.3137 p.R1046H 1.000 pfam_RNA_pol_Rpb2_7 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 149 0 0 133 26 16.3522 ACACB 0 genome.wustl.edu 37 12 109617013 109617013 + Missense_Mutation SNP G G T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 12 109617013 109617013 G T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.1558 p.D520Y 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 32 0 0 29 2 6.45161 FOXN4 0 genome.wustl.edu 37 12 109723285 109723285 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 12 109723285 109723285 C T SNP FOXN4 ENST00000299162 human ensembl 74_37 -1 known missense c.725 p.R242Q 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN4 HGNC ENSG00000139445 66 0 0 50 4 7.40741 MYO1H 0 genome.wustl.edu 37 12 109872885 109872885 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 12 109872885 109872885 G A SNP MYO1H ENST00000431443 human ensembl 74_37 +1 known missense c.2089 p.E697K 1.000 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 33 0 0 37 6 13.9535 GOLGA3 0 genome.wustl.edu 37 12 133358998 133358998 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 12 133358998 133358998 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.3349 p.E1117K 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 184 0 0 149 22 12.8655 ADAMTS20 0 genome.wustl.edu 37 12 43750286 43750286 + Splice_Site SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 12 43750286 43750286 C T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known splice_site c.5643+1 e38+1 0.993 - - - no_errors ADAMTS20 HGNC ENSG00000173157 17 0 0 15 6 28.5714 KRT81 0 genome.wustl.edu 37 12 52682158 52682158 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 12 52682158 52682158 C T SNP KRT81 ENST00000327741 human ensembl 74_37 -1 known missense c.722 p.R241Q 0.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT81 HGNC ENSG00000205426 88 0 0 84 12 12.5 KRT73 0 genome.wustl.edu 37 12 53002086 53002086 + Missense_Mutation SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 12 53002086 53002086 C A SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.1517 p.S506I 0.986 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 81 0 0 62 12 16.2162 FAM90A1 0 genome.wustl.edu 37 12 8376676 8376676 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 12 8376676 8376676 G A SNP FAM90A1 ENST00000307435 human ensembl 74_37 -1 known missense c.259 p.P87S 0.000 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 184 0 0 135 21 13.4615 ZIC5 0 genome.wustl.edu 37 13 100622658 100622658 + Silent SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 13 100622658 100622658 C T SNP ZIC5 ENST00000267294 human ensembl 74_37 -1 known silent c.1272 p.P424 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 10 0 0 7 5 41.6667 SLITRK1 0 genome.wustl.edu 37 13 84454165 84454165 + Missense_Mutation SNP C C G TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 13 84454165 84454165 C G SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1478 p.G493A 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 SLITRK1 HGNC ENSG00000178235 52 0 0 71 8 10.1266 SLITRK6 0 genome.wustl.edu 37 13 86370028 86370028 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 13 86370028 86370028 G A SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.616 p.H206Y 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 SLITRK6 HGNC ENSG00000184564 55 0 0 82 16 16.3265 NIN 0 genome.wustl.edu 37 14 51226755 51226755 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 14 51226755 51226755 C T SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.2219 p.R740Q 0.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 149 0 0 147 16 9.81595 NID2 0 genome.wustl.edu 37 14 52478332 52478332 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 14 52478332 52478332 G A SNP NID2 ENST00000216286 human ensembl 74_37 -1 known missense c.3490 p.R1164W 0.930 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 111 1 0.892857 125 20 13.7931 SYT16 0 genome.wustl.edu 37 14 62567184 62567184 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 14 62567184 62567184 G A SNP SYT16 ENST00000430451 human ensembl 74_37 +1 novel missense c.1697 p.R566H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT16 HGNC ENSG00000139973 30 0 0 27 9 25 ESR2 0 genome.wustl.edu 37 14 64723960 64723960 + Missense_Mutation SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 14 64723960 64723960 C A SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known missense c.1075 p.D359Y 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR2 HGNC ENSG00000140009 119 1 0.833333 133 29 17.9012 LTBP2 0 genome.wustl.edu 37 14 74976494 74976494 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 14 74976494 74976494 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known missense c.3220 p.A1074T 0.002 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 88 0 0 80 11 12.0879 SPTBN5 0 genome.wustl.edu 37 15 42164501 42164501 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 15 42164501 42164501 G A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.5164 p.R1722W 0.682 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 33 0 0 32 5 13.5135 NTHL1 0 genome.wustl.edu 37 16 2096147 2096147 + Missense_Mutation SNP G G C TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 16 2096147 2096147 G C SNP NTHL1 ENST00000219066 human ensembl 74_37 -1 known missense c.360 p.D120E 0.754 superfamily_DNA_glycosylase pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors NTHL1 HGNC ENSG00000065057 179 0 0 169 26 13.3333 ORAI3 0 genome.wustl.edu 37 16 30964856 30964856 + Silent SNP G G T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 16 30964856 30964856 G T SNP ORAI3 ENST00000318663 human ensembl 74_37 +1 known silent c.579 p.V193 0.688 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI3 HGNC ENSG00000175938 342 0 0 296 39 11.6418 GPT2 0 genome.wustl.edu 37 16 46943744 46943744 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 16 46943744 46943744 C T SNP GPT2 ENST00000340124 human ensembl 74_37 +1 known missense c.725 p.A242V 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT2 HGNC ENSG00000166123 88 0 0 102 7 6.42202 CYLD 0 genome.wustl.edu 37 16 50830292 50830292 + Missense_Mutation SNP A A G TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 16 50830292 50830292 A G SNP CYLD ENST00000311559 human ensembl 74_37 +1 known missense c.2744 p.Y915C 1.000 pfscan_Peptidase_C19/C67 pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 84 0 0 79 8 9.1954 PLA2G15 0 genome.wustl.edu 37 16 68293500 68293500 + Silent SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 16 68293500 68293500 C T SNP PLA2G15 ENST00000219345 human ensembl 74_37 +1 known silent c.1179 p.I393 0.001 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 64 0 0 55 10 15.3846 TERF2 0 genome.wustl.edu 37 16 69418514 69418514 + Missense_Mutation SNP A A T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 16 69418514 69418514 A T SNP TERF2 ENST00000254942 human ensembl 74_37 -1 known missense c.575 p.V192D 0.169 pfam_Telomere_rpt-bd_fac_dimer_dom,superfamily_Telomere_rpt-bd_fac_dimer_dom,pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF2 HGNC ENSG00000132604 72 0 0 60 12 16.6667 NARFL 0 genome.wustl.edu 37 16 780495 780495 + Silent SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 16 780495 780495 C T SNP NARFL ENST00000251588 human ensembl 74_37 -1 known silent c.1353 p.S451 0.021 pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 102 0 0 86 18 17.3077 KCNG4 0 genome.wustl.edu 37 16 84270705 84270705 + Silent SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 16 84270705 84270705 G A SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known silent c.387 p.A129 0.978 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 61 0 0 52 4 7.14286 USP32P2 0 genome.wustl.edu 37 17 18420672 18420672 + RNA SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 17 18420672 18420672 G A SNP USP32P2 ENST00000412260 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors USP32P2 HGNC ENSG00000233327 45 0 0 35 8 18.6047 PIPOX 0 genome.wustl.edu 37 17 27380077 27380077 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 17 27380077 27380077 C T SNP PIPOX ENST00000323372 human ensembl 74_37 +1 known missense c.403 p.P135S 0.000 pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon - no_errors PIPOX HGNC ENSG00000179761 95 0 0 72 19 20.8791 ASGR1 0 genome.wustl.edu 37 17 7077074 7077074 + Silent SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 17 7077074 7077074 G A SNP ASGR1 ENST00000269299 human ensembl 74_37 -1 known silent c.780 p.D260 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR1 HGNC ENSG00000141505 121 0 0 88 15 14.5631 POLR2A 0 genome.wustl.edu 37 17 7404941 7404941 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 17 7404941 7404941 G A SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.2242 p.A748T 1.000 pfam_RNA_pol_Rpb1_4 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 90 0 0 77 15 16.3043 CCDC42 0 genome.wustl.edu 37 17 8647479 8647479 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 17 8647479 8647479 G A SNP CCDC42 ENST00000293845 human ensembl 74_37 -1 known missense c.107 p.A36V 0.335 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 81 0 0 68 13 16.0494 CDH2 0 genome.wustl.edu 37 18 25572744 25572744 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 18 25572744 25572744 C T SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.1219 p.D407N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 74 0 0 75 13 14.7727 DSC2 0 genome.wustl.edu 37 18 28651744 28651744 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 18 28651744 28651744 G A SNP DSC2 ENST00000280904 human ensembl 74_37 -1 known missense c.1952 p.T651I 0.001 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC2 HGNC ENSG00000134755 29 0 0 26 2 7.14286 ZNF700 0 genome.wustl.edu 37 19 12059220 12059220 + Silent SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 19 12059220 12059220 C T SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known silent c.381 p.D127 0.000 NULL 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 ZNF700 HGNC ENSG00000196757 190 0 0 164 24 12.766 CILP2 0 genome.wustl.edu 37 19 19655192 19655192 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 19 19655192 19655192 G A SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.1838 p.R613Q 0.988 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 126 0 0 122 18 12.8571 RELB 0 genome.wustl.edu 37 19 45535866 45535866 + Missense_Mutation SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 19 45535866 45535866 C A SNP RELB ENST00000221452 human ensembl 74_37 +1 known missense c.1066 p.Q356K 1.000 superfamily_Ig_E-set,smart_IPT,prints_NF_Rel_Dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 26 0 0 15 2 11.7647 ZNF581 0 genome.wustl.edu 37 19 56156207 56156207 + Silent SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 19 56156207 56156207 C T SNP ZNF581 ENST00000270451 human ensembl 74_37 +1 known silent c.270 p.P90 0.007 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF581 HGNC ENSG00000171425 74 0 0 57 12 17.3913 MAP3K2 0 genome.wustl.edu 37 2 128075265 128075265 + Silent SNP A A G TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 2 128075265 128075265 A G SNP MAP3K2 ENST00000344908 human ensembl 74_37 -1 known silent c.1266 p.Y422 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K2 HGNC ENSG00000169967 13 0 0 21 2 8.69565 CCDC148 0 genome.wustl.edu 37 2 159028732 159028732 + Nonsense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 2 159028732 159028732 G A SNP CCDC148 ENST00000283233 human ensembl 74_37 -1 known nonsense c.1669 p.R557* 0.998 NULL NULL - no_errors CCDC148 HGNC ENSG00000153237 37 0 0 46 5 9.80392 PXDN 0 genome.wustl.edu 37 2 1643087 1643087 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 2 1643087 1643087 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.4060 p.R1354W 0.000 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 28 0 0 21 5 19.2308 LRP2 0 genome.wustl.edu 37 2 170063685 170063685 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 2 170063685 170063685 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.6545 p.R2182H 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 107 0 0 76 18 19.1489 TTN 0 genome.wustl.edu 37 2 179613044 179613044 + Nonsense_Mutation SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 2 179613044 179613044 C A SNP TTN ENST00000360870 human ensembl 74_37 -1 known nonsense c.14083 p.E4695* 0.186 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 73 0 0 110 15 12 BMPR2 0 genome.wustl.edu 37 2 203420137 203420137 + Missense_Mutation SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 2 203420137 203420137 C A SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known missense c.1749 p.N583K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 66 0 0 63 6 8.69565 FEV 0 genome.wustl.edu 37 2 219846752 219846752 + Silent SNP A A G TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 2 219846752 219846752 A G SNP FEV ENST00000295727 human ensembl 74_37 -1 known silent c.354 p.H118 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors FEV HGNC ENSG00000163497 27 0 0 34 4 10.5263 USP40 0 genome.wustl.edu 37 2 234431906 234431906 + Missense_Mutation SNP A A T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 2 234431906 234431906 A T SNP USP40 ENST00000450966 human ensembl 74_37 -1 known missense c.2144 p.I715N 0.033 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP40 HGNC ENSG00000085982 164 0 0 201 31 13.3621 GALNT14 0 genome.wustl.edu 37 2 31165143 31165143 + Silent SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 2 31165143 31165143 G A SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known silent c.855 p.F285 0.676 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 78 0 0 80 18 18.3673 FAM136A 0 genome.wustl.edu 37 2 70527986 70527986 + Missense_Mutation SNP G G C TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 2 70527986 70527986 G C SNP FAM136A ENST00000037869 human ensembl 74_37 -1 known missense c.214 p.L72V 0.998 pfam_DUF842_euk pfam_DUF842_euk - no_errors FAM136A HGNC ENSG00000035141 202 0 0 197 33 14.3478 PTPRA 0 genome.wustl.edu 37 20 2945695 2945695 + Missense_Mutation SNP A A G TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 20 2945695 2945695 A G SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known missense c.295 p.T99A 1.000 pirsf_Tyr_Pase_rcpt_a/e-type pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 98 0 0 104 11 9.56522 BCAS1 0 genome.wustl.edu 37 20 52583468 52583468 + Missense_Mutation SNP G G T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 20 52583468 52583468 G T SNP BCAS1 ENST00000371440 human ensembl 74_37 -1 known missense c.1420 p.L474M 0.776 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 251 1 0.396825 285 23 7.46753 BRWD1 0 genome.wustl.edu 37 21 40608631 40608631 + Nonsense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 21 40608631 40608631 G A SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known nonsense c.2656 p.R886* 0.742 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 66 0 0 63 10 13.6986 SGSM3 0 genome.wustl.edu 37 22 40803534 40803534 + Missense_Mutation SNP G G C TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 22 40803534 40803534 G C SNP SGSM3 ENST00000248929 human ensembl 74_37 +1 known missense c.1486 p.D496H 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 49 0 0 30 5 14.2857 ATP13A3 0 genome.wustl.edu 37 3 194158159 194158159 + Missense_Mutation SNP G G T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 3 194158159 194158159 G T SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known missense c.1880 p.P627Q 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 47 0 0 60 15 20 STAC 0 genome.wustl.edu 37 3 36534690 36534690 + Silent SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 3 36534690 36534690 C T SNP STAC ENST00000273183 human ensembl 74_37 +1 known silent c.735 p.G245 0.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors STAC HGNC ENSG00000144681 118 0 0 122 13 9.62963 CTNNB1 0 genome.wustl.edu 37 3 41266453 41266453 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 3 41266453 41266453 G A SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.250 p.G84R 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 136 0 0 90 17 15.8879 CTNNB1 0 genome.wustl.edu 37 3 41266572 41266572 + Missense_Mutation SNP G G T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 3 41266572 41266572 G T SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.369 p.Q123H 1.000 prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 53 0 0 56 18 24.3243 ADAMTS9 0 genome.wustl.edu 37 3 64633635 64633635 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 3 64633635 64633635 G A SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.1691 p.T564M 1.000 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 135 0 0 99 11 10 ROBO2 0 genome.wustl.edu 37 3 77526667 77526667 + Missense_Mutation SNP C C G TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 3 77526667 77526667 C G SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.491 p.T164S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 104 0 0 91 19 17.2727 ANK2 0 genome.wustl.edu 37 4 114254248 114254248 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 4 114254248 114254248 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.3263 p.R1088Q 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 112 0 0 107 14 11.5702 FAT1 0 genome.wustl.edu 37 4 187516845 187516845 + Missense_Mutation SNP T T C TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 4 187516845 187516845 T C SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.13136 p.N4379S 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,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,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 69 0 0 82 13 13.6842 HARS 0 genome.wustl.edu 37 5 140054699 140054699 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 5 140054699 140054699 C T SNP HARS ENST00000504156 human ensembl 74_37 -1 known missense c.1214 p.R405Q 1.000 pirsf_HisRS/HisZ,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase - no_errors HARS HGNC ENSG00000170445 110 0 0 101 7 6.48148 PCDHB7 0 genome.wustl.edu 37 5 140554375 140554375 + Silent SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 5 140554375 140554375 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.1959 p.S653 0.305 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 115 0 0 106 6 5.35714 PDGFRB 0 genome.wustl.edu 37 5 149499084 149499084 + Missense_Mutation SNP T T C TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 5 149499084 149499084 T C SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known missense c.2744 p.N915S 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 130 0 0 127 13 9.28571 SOX30 0 genome.wustl.edu 37 5 157078284 157078284 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 5 157078284 157078284 G A SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.803 p.P268L 0.532 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 90 0 0 88 11 11.1111 RNF130 0 genome.wustl.edu 37 5 179393912 179393912 + Silent SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 5 179393912 179393912 G A SNP RNF130 ENST00000521389 human ensembl 74_37 -1 known silent c.1044 p.G348 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF130 HGNC ENSG00000113269 94 0 0 84 6 6.66667 GZMA 0 genome.wustl.edu 37 5 54405923 54405923 + Silent SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 5 54405923 54405923 C T SNP GZMA ENST00000274306 human ensembl 74_37 +1 known silent c.702 p.C234 0.288 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMA HGNC ENSG00000145649 71 0 0 85 6 6.59341 KIAA0947 0 genome.wustl.edu 37 5 5463370 5463370 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 5 5463370 5463370 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.3923 p.T1308M 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 24 0 0 22 4 15.3846 DMGDH 0 genome.wustl.edu 37 5 78347179 78347179 + Missense_Mutation SNP A A G TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 5 78347179 78347179 A G SNP DMGDH ENST00000255189 human ensembl 74_37 -1 known missense c.676 p.S226P 0.534 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 164 0 0 164 21 11.3514 LINC00518 0 genome.wustl.edu 37 6 10430539 10430539 + RNA SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 6 10430539 10430539 C T SNP LINC00518 ENST00000472178 human ensembl 74_37 -1 known rna NULL NULL 0.209 - - - no_errors LINC00518 HGNC ENSG00000183674 107 0 0 92 18 16.3636 GPR6 0 genome.wustl.edu 37 6 110300361 110300361 + Missense_Mutation SNP G G T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 6 110300361 110300361 G T SNP GPR6 ENST00000414000 human ensembl 74_37 +1 known missense c.91 p.V31L 0.018 prints_GPR6 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR6,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn - no_errors GPR6 HGNC ENSG00000146360 37 0 0 40 4 9.09091 REV3L 0 genome.wustl.edu 37 6 111654434 111654434 + Missense_Mutation SNP T T C TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 6 111654434 111654434 T C SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.7817 p.Y2606C 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 38 0 0 28 8 22.2222 HEY2 0 genome.wustl.edu 37 6 126080903 126080903 + Missense_Mutation SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 6 126080903 126080903 C A SNP HEY2 ENST00000368364 human ensembl 74_37 +1 known missense c.969 p.N323K 1.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 105 0 0 85 5 5.55556 SYNE1 0 genome.wustl.edu 37 6 152671459 152671459 + Missense_Mutation SNP G G T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 6 152671459 152671459 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.11745 p.F3915L 0.013 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 68 0 0 70 16 18.6047 SYNE1 0 genome.wustl.edu 37 6 152708291 152708291 + Silent SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 6 152708291 152708291 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.8403 p.Y2801 0.635 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 132 0 0 110 16 12.6984 RPS6KA2 0 genome.wustl.edu 37 6 166844054 166844054 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 6 166844054 166844054 G A SNP RPS6KA2 ENST00000510118 human ensembl 74_37 -1 known missense c.1543 p.R515C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KA2 HGNC ENSG00000071242 43 0 0 57 8 12.3077 CMTR1 0 genome.wustl.edu 37 6 37414202 37414202 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 6 37414202 37414202 G A SNP CMTR1 ENST00000373451 human ensembl 74_37 +1 known missense c.421 p.V141M 0.985 NULL pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_dom,pfscan_G_patch_dom - no_errors CMTR1 HGNC ENSG00000137200 256 0 0 243 40 14.1343 RRP36 0 genome.wustl.edu 37 6 42992783 42992783 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 6 42992783 42992783 C T SNP RRP36 ENST00000244496 human ensembl 74_37 +1 known missense c.191 p.T64M 0.013 NULL pfam_DUF947 - no_errors RRP36 HGNC ENSG00000124541 32 0 0 42 8 16 FBXL13 0 genome.wustl.edu 37 7 102453857 102453857 + Missense_Mutation SNP A A T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 7 102453857 102453857 A T SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known missense c.2140 p.S714T 0.000 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 92 0 0 110 16 12.6984 SLC37A3 0 genome.wustl.edu 37 7 140037083 140037083 + Splice_Site SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 7 140037083 140037083 C T SNP SLC37A3 ENST00000326232 human ensembl 74_37 -1 known splice_site c.1392+1 e13+1 1.000 - - - no_errors SLC37A3 HGNC ENSG00000157800 23 0 0 24 3 11.1111 MGAM 0 genome.wustl.edu 37 7 141727496 141727496 + Silent SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 7 141727496 141727496 G A SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.1182 p.R394 0.161 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 41 0 0 42 7 14.2857 PAPOLB 0 genome.wustl.edu 37 7 4901385 4901385 + Missense_Mutation SNP A A C TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 7 4901385 4901385 A C SNP PAPOLB ENST00000404991 human ensembl 74_37 -1 known missense c.54 p.N18K 0.829 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 11 0 0 10 9 47.3684 TRPS1 0 genome.wustl.edu 37 8 116599450 116599450 + Silent SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 8 116599450 116599450 C A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known silent c.2478 p.L826 0.898 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 197 0 0 237 27 10.2273 TUSC3 0 genome.wustl.edu 37 8 15480613 15480613 + Missense_Mutation SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 8 15480613 15480613 C A SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.163 p.Q55K 1.000 superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 54 0 0 75 5 6.25 DLGAP2 0 genome.wustl.edu 37 8 1626397 1626397 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 8 1626397 1626397 G A SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.2066 p.R689H 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 73 0 0 65 6 8.4507 NKX3-1 0 genome.wustl.edu 37 8 23538802 23538802 + Missense_Mutation SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 8 23538802 23538802 C T SNP NKX3-1 ENST00000380871 human ensembl 74_37 -1 known missense c.637 p.V213M 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX3-1 HGNC ENSG00000167034 72 0 0 87 15 14.7059 KAT6A 0 genome.wustl.edu 37 8 41906091 41906091 + Missense_Mutation SNP G G T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 8 41906091 41906091 G T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.405 p.F135L 1.000 smart_Histone_H1/H5_H15 pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 79 0 0 75 6 7.40741 TGFBR1 0 genome.wustl.edu 37 9 101891357 101891357 + Nonsense_Mutation SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 9 101891357 101891357 C A SNP TGFBR1 ENST00000374994 human ensembl 74_37 +1 known nonsense c.318 p.C106* 1.000 pfam_Activin_rcpt,superfamily_Quinolinate_PRibosylTrfase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TGFBR1 HGNC ENSG00000106799 21 0 0 22 7 24.1379 OR13F1 0 genome.wustl.edu 37 9 107266848 107266848 + Missense_Mutation SNP A A G TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 9 107266848 107266848 A G SNP OR13F1 ENST00000334726 human ensembl 74_37 +1 known missense c.305 p.Y102C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13F1 HGNC ENSG00000186881 88 0 0 48 19 28.3582 PPAPDC3 0 genome.wustl.edu 37 9 134165439 134165439 + Silent SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 9 134165439 134165439 C A SNP PPAPDC3 ENST00000372264 human ensembl 74_37 +1 known silent c.55 p.R19 0.983 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC3 HGNC ENSG00000160539 25 0 0 16 3 15.7895 GLIPR2 0 genome.wustl.edu 37 9 36162426 36162426 + Silent SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 9 36162426 36162426 C T SNP GLIPR2 ENST00000377960 human ensembl 74_37 +1 known silent c.372 p.D124 0.439 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR2 HGNC ENSG00000122694 131 0 0 113 21 15.6716 ZNF510 0 genome.wustl.edu 37 9 99521449 99521449 + Nonsense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 9 99521449 99521449 G A SNP ZNF510 ENST00000223428 human ensembl 74_37 -1 known nonsense c.1663 p.R555* 0.002 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 ZNF510 HGNC ENSG00000081386 125 0 0 115 17 12.8788 TAF7L 0 genome.wustl.edu 37 X 100533036 100533036 + Splice_Site SNP C C T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 X 100533036 100533036 C T SNP TAF7L ENST00000372907 human ensembl 74_37 -1 known splice_site c.835+1 e8+1 1.000 - - - no_errors TAF7L HGNC ENSG00000102387 41 0 0 23 10 30.303 FMR1NB 0 genome.wustl.edu 37 X 147084750 147084750 + Missense_Mutation SNP C C A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 X 147084750 147084750 C A SNP FMR1NB ENST00000370467 human ensembl 74_37 +1 known missense c.307 p.H103N 0.000 NULL superfamily_P_trefoil - no_errors FMR1NB HGNC ENSG00000176988 114 0 0 73 30 29.1262 FLNA 0 genome.wustl.edu 37 X 153580000 153580000 + Silent SNP A A T TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 X 153580000 153580000 A T SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.6972 p.P2324 0.929 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 32 0 0 31 2 6.06061 ENSG00000270726 0 genome.wustl.edu 37 X 155255036 155255036 + RNA SNP C C G TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 X 155255036 155255036 C G SNP ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 0.954 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 22 0 0 34 5 12.8205 ARSE 0 genome.wustl.edu 37 X 2867487 2867487 + Missense_Mutation SNP G G A TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 X 2867487 2867487 G A SNP ARSE ENST00000545496 human ensembl 74_37 -1 known missense c.787 p.L263F 0.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 36 0 0 22 7 24.1379 PKN2 0 genome.wustl.edu 37 1 89237394 89237395 + Frame_Shift_Ins INS - - ATTC TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 1 89237394 89237395 - ATTC INS PKN2 ENST00000370521 human ensembl 74_37 +1 known frame_shift_ins c.817_818 p.L275fs 1.000:1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 62 0 0 58 6 9.375 C16orf59 0 genome.wustl.edu 37 16 2510641 2510641 + Frame_Shift_Del DEL G G - TCGA-D7-6524-01A-11D-1800-08 TCGA-D7-6524-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7d8e93df-a61a-4c2a-bfeb-6668069ea98d fcb9d0d3-39ce-44a2-bc51-b82dff634aa0 16 2510641 2510641 G - DEL C16orf59 ENST00000361837 human ensembl 74_37 +1 known frame_shift_del c.143 p.A49fs 0.000 NULL NULL - no_errors C16orf59 HGNC ENSG00000162062 43 0 0 52 8 13.3333